-
1
-
-
0031731487
-
Genomic disorders: Structural features of the genome can lead to DNA rearrangements and human disease traits
-
DOI 10.1016/S0168-9525(98)01555-8
-
Lupski, J.R. (1998) Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet 14, 417-22. (Pubitemid 28505586)
-
(1998)
Trends in Genetics
, vol.14
, Issue.10
, pp. 417-422
-
-
Lupski, J.R.1
-
2
-
-
67649973564
-
Genomic disorders ten years on
-
Lupski, J.R. (2009) Genomic disorders ten years on. Genome Med 24, 1-42.
-
(2009)
Genome Med
, vol.24
, pp. 1-42
-
-
Lupski, J.R.1
-
3
-
-
17344371740
-
High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays
-
DOI 10.1038/2524
-
Pinkel, D., Segraves, R., Sudar, D., Clark, S., Poole, I., Kowbel, D., Collins, C., Kuo, W.-L., Chen, C., Zhai, Y., Dairkee, S.H., Ljung, B.M., Gray, J.W., Albertson, D.G. (1998) High resolution analysis of DNA copy-number variation using comparative genomic hybridization to microarrays. Nat Genet 20, 207-11. (Pubitemid 28455458)
-
(1998)
Nature Genetics
, vol.20
, Issue.2
, pp. 207-211
-
-
Pinkel, D.1
Segraves, R.2
Sudar, D.3
Clark, S.4
Poole, I.5
Kowbel, D.6
Collins, C.7
Kuo, W.-L.8
Chen, C.9
Zhai, Y.10
Dairkee, S.H.11
Ljung, B.-M.12
Gray, J.W.13
Albertson, D.G.14
-
4
-
-
0030701970
-
Matrix-based comparative genomic hybridization: Biochips to screen for genomic imbalances
-
DOI 10.1002/(SICI)1098-2264(199712)20:4<399::AID-GCC12>3.0.CO;2-I
-
Solinas-Toldo, S., Lampel, S., Stilgenbauer, S., Nickolenko, J., Benner, A., Dohner, H., Cremer, T., Lichter, P. (1997) Matrix-based comparative genomic hybridization: biochips to screen for genomic imbalances. Genes Chromosomes Cancer 20, 399-407. (Pubitemid 27520090)
-
(1997)
Genes Chromosomes and Cancer
, vol.20
, Issue.4
, pp. 399-407
-
-
Solinas-Toldo, S.1
Lampel, S.2
Stilgenbauer, S.3
Nickolenko, J.4
Benner, A.5
Dohner, H.6
Cremer, T.7
Lichter, P.8
-
5
-
-
4444291843
-
Detection of large-scale variation in the human genome
-
DOI 10.1038/ng1416
-
Iafrate, A.J., Feuk, L., Rivera, M.N., Listewnik, M.L., Donahoe, P.K., Qi, Y., Scherer, S.W., Lee, C. (2004) Detection of large-scale variation in the human genome. Nat Genet 36, 949-51. (Pubitemid 39167488)
-
(2004)
Nature Genetics
, vol.36
, Issue.9
, pp. 949-951
-
-
Iafrate, A.J.1
Feuk, L.2
Rivera, M.N.3
Listewnik, M.L.4
Donahoe, P.K.5
Qi, Y.6
Scherer, S.W.7
Lee, C.8
-
6
-
-
3242808027
-
Large-scale copy number polymorphism in the human genome
-
DOI 10.1126/science.1098918
-
Sebat, J., Lakshmi, B., Troge, J., Alexander, J., Young, J., Lundin, P., Månér, S., Massa, H., Walker, M., Chi, M., Navin, N., Lucito, R., Healy, J., Hicks, J., Ye, K., Reiner, A., Gilliam, T.C., Trask, B., Patterson, N., Zetterberg, A., Wigler, M. (2004) Large-scale copy-number polymorphism in the human genome. Science 305, 525-8. (Pubitemid 38971344)
-
(2004)
Science
, vol.305
, Issue.5683
, pp. 525-528
-
-
Sebat, J.1
Lakshmi, B.2
Troge, J.3
Alexander, J.4
Young, J.5
Lundin, P.6
Maner, S.7
Massa, H.8
Walker, M.9
Chi, M.10
Navin, N.11
Lucito, R.12
Healy, J.13
Hicks, J.14
Ye, K.15
Reiner, A.16
Gilliam, T.C.17
Trask, B.18
Patterson, N.19
Zetterberg, A.20
Wigler, M.21
more..
-
7
-
-
33751329250
-
Global variation in copy number in the human genome
-
DOI 10.1038/nature05329, PII NATURE05329
-
Redon, R., Ishikawa, S., Fitch, K.R., Feuk, L., Perry, G.H., Andrews, T.D., Fiegler, H., Shapero, M.H., Carson, A.R., Chen, W., Cho, E.K., Dallaire, S., Freeman, J.L., González, J.R., Gratacòs, M., Huang, J., Kalaitzopoulos, D., Komura, D., MacDonald, J.R., Marshall, C.R., Mei, R., Montgomery, L., Nishimura, K., Okamura, K., Shen, F., Somerville, M.J., Tchinda, J., Valsesia, A., Woodwark, C., Yang, F., Zhang, J., Zerjal, T., Zhang, J., Armengol, L., Conrad, D.F., Estivill, X., Tyler-Smith, C., Carter, N.P., Aburatani, H., Lee, C., Jones, K.W., Scherer, S.W., Hurles, M.E. (2006) Global variation in copy-number in the human genome. Nature 444, 444-54. (Pubitemid 44809057)
-
(2006)
Nature
, vol.444
, Issue.7118
, pp. 444-454
-
-
Redon, R.1
Ishikawa, S.2
Fitch, K.R.3
Feuk, L.4
Perry, G.H.5
Andrews, T.D.6
Fiegler, H.7
Shapero, M.H.8
Carson, A.R.9
Chen, W.10
Cho, E.K.11
Dallaire, S.12
Freeman, J.L.13
Gonzalez, J.R.14
Gratacos, M.15
Huang, J.16
Kalaitzopoulos, D.17
Komura, D.18
MacDonald, J.R.19
Marshall, C.R.20
Mei, R.21
Montgomery, L.22
Nishimura, K.23
Okamura, K.24
Shen, F.25
Somerville, M.J.26
Tchinda, J.27
Valsesia, A.28
Woodwark, C.29
Yang, F.30
Zhang, J.31
Zerjal, T.32
Zhang, J.33
Armengol, L.34
Conrad, D.F.35
Estivill, X.36
Tyler-Smith, C.37
Carter, N.P.38
Aburatani, H.39
Lee, C.40
Jones, K.W.41
Scherer, S.W.42
Hurles, M.E.43
more..
-
8
-
-
34249680839
-
Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation
-
DOI 10.1016/j.gde.2007.04.009, PII S0959437X07000743
-
Stankiewicz, P., Beaudet, A.L. (2007) Use of arrayCGHin the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation. Curr Opin Genet Dev 17, 182-92. (Pubitemid 46843553)
-
(2007)
Current Opinion in Genetics and Development
, vol.17
, Issue.3
, pp. 182-192
-
-
Stankiewicz, P.1
Beaudet, A.L.2
-
9
-
-
44249121777
-
Novel microdeletion syndromes detected by chromosome microarrays
-
Slavotinek, A.M. (2008) Novel microdeletion syndromes detected by chromosome microarrays. Hum Genet 124, 1-17.
-
(2008)
Hum Genet
, vol.124
, pp. 1-17
-
-
Slavotinek, A.M.1
-
10
-
-
77949831756
-
Structural variation in the human genome and its role in disease
-
Stankiewicz, P., Lupski, J.R. (2010) Structural variation in the human genome and its role in disease. Annu Rev Med 61, 437-55.
-
(2010)
Annu Rev Med
, vol.61
, pp. 437-55
-
-
Stankiewicz, P.1
Lupski, J.R.2
-
11
-
-
76549100511
-
Evolution in Health and Medicine Sackler Colloquium : Genomic disorders: A window into human gene and genome evolution
-
Carvalho, C.M.B., Zhang, F., Lupski JR. (2010) Evolution in Health and Medicine Sackler Colloquium : Genomic disorders: A window into human gene and genome evolution. PNAS 107, 1765-71.
-
(2010)
PNAS
, vol.107
, pp. 1765-71
-
-
Carvalho, C.M.B.1
Zhang, F.2
Lupski, J.R.3
-
12
-
-
0036468807
-
Genome architecture, rearrangements and genomic disorders
-
DOI 10.1016/S0168-9525(02)02592-1, PII S0168952501025926
-
Stankiewicz, P., Lupski, J.R. (2002) Genome architecture, rearrangements and genomic disorders. Trends Genet 18, 74-82. (Pubitemid 34127806)
-
(2002)
Trends in Genetics
, vol.18
, Issue.2
, pp. 74-82
-
-
Stankiewicz, P.1
Lupski, J.R.2
-
13
-
-
0034831138
-
Segmental duplications: Organization and impact within the current human genome project assembly
-
DOI 10.1101/gr.GR-1871R
-
Bailey, J.A., Yavor, A.M., Massa, H.F., Trask, B.J., Eichler, E.E. (2001) Segmental duplications: organization and impact within the current Human Genome Project assembly. Genome Res 11, 1005-17. (Pubitemid 32834546)
-
(2001)
Genome Research
, vol.11
, Issue.6
, pp. 1005-1017
-
-
Bailey, J.A.1
Yavor, A.M.2
Massa, H.F.3
Trask, B.J.4
Eichler, E.E.5
-
14
-
-
0035500899
-
Recent duplication, domain accretion and the dynamic mutation of the human genome
-
DOI 10.1016/S0168-9525(01)02492-1, PII S0168952501024921
-
Eichler, E.E. (2001) Recent duplication, domain accretion and the dynamic mutation of the human genome. Trends Genet 17, 661-9. (Pubitemid 32973826)
-
(2001)
Trends in Genetics
, vol.17
, Issue.11
, pp. 661-669
-
-
Eichler, E.E.1
-
15
-
-
33646490411
-
On the mechanism of gene amplification induced under stress in Escherichia coli
-
Slack, A., Thornton, P.C., Magner, D.B., Rosenberg, S.M., Hastings, P.J. (2006) On the mechanism of gene amplification induced under stress in Escherichia coli. PLoS Genet 2, e48.
-
(2006)
PLoS Genet
, vol.2
-
-
Slack, A.1
Thornton, P.C.2
Magner, D.B.3
Rosenberg, S.M.4
Hastings, P.J.5
-
16
-
-
37349109667
-
A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders
-
DOI 10.1016/j.cell.2007.11.037, PII S0092867407015413
-
Lee, J.A., Carvalho, C.M., Lupski, J.R. (2007) A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. Cell 131, 1235-47. (Pubitemid 350297419)
-
(2007)
Cell
, vol.131
, Issue.7
, pp. 1235-1247
-
-
Lee, J.A.1
Carvalho, C.M.B.2
Lupski, J.R.3
-
17
-
-
59249105978
-
A microhomology-mediated break-induced replication model for the origin of human copy number variation
-
Hastings, P.J., Ira, G., Lupski, J.R. (2009) A microhomology-mediated break-induced replication model for the origin of human copy number variation. PLoS Genet 5, e1000327.
-
(2009)
PLoS Genet
, vol.5
-
-
Hastings, P.J.1
Ira, G.2
Lupski, J.R.3
-
18
-
-
0022916035
-
Contiguous gene syndromes: A component of recognizable syndromes
-
Schmickel, R.D. (1986) Contiguous gene syndromes: a component of recognizable syndromes. J Pediatr 109, 231-41. (Pubitemid 16032516)
-
(1986)
Journal of Pediatrics
, vol.109
, Issue.2
, pp. 231-241
-
-
Schmickel, R.D.1
-
19
-
-
0035929273
-
Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder
-
DOI 10.1126/science.1063525
-
Katsanis, N., Ansley, S.J., Badano, J.L., Eichers, E.R., Lewis, R.A., Hoskins, B.E., Scambler, P.J., Davidson, W.S., Beales, P.L., Lupski, J.R. (2001) Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. Science 293, 2256-9. (Pubitemid 32900235)
-
(2001)
Science
, vol.293
, Issue.5538
, pp. 2256-2259
-
-
Katsanis, N.1
Ansley, S.J.2
Badano, J.L.3
Eichers, E.R.4
Lewis, R.A.5
Hoskins, B.E.6
Scambler, P.J.7
Davidson, W.S.8
Beales, P.L.9
Lupski, J.R.10
-
20
-
-
70350221909
-
Copy number variation in human health, disease, and evolution
-
Zhang F, Gu W, Hurles ME, Lupski JR. (2009) Copy number variation in human health, disease, and evolution. Annu Rev Genomics Hum Genet 10, 451-81.
-
(2009)
Annu Rev Genomics Hum Genet
, vol.10
, pp. 451-81
-
-
Zhang, F.1
Gu, W.2
Hurles, M.E.3
Lupski, J.R.4
-
21
-
-
64149099583
-
DECIPHER: Database of chromosomal imbalance and phenotype in humans using ensembl resources
-
Firth, H.V., Richards, S.M., Bevan, A.P., Clayton, S., Corpas, M., Rajan, D., Van Vooren, S., Moreau, Y., Pettett, R.M., Carter, N.P. (2009) DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. Am J Hum Genet 84, 524-33.
-
(2009)
Am J Hum Genet
, vol.84
, pp. 524-33
-
-
Firth, H.V.1
Richards, S.M.2
Bevan, A.P.3
Clayton, S.4
Corpas, M.5
Rajan, D.6
Van Vooren, S.7
Moreau, Y.8
Pettett, R.M.9
Carter, N.P.10
-
22
-
-
0033855389
-
Mechanisms of DNA double-strand break repair and their potential to induce chromosomal aberrations
-
Pfeiffer, P., Goedecke, W., Obe, G. (2000) Mechanisms of DNA double-strand break repair and their potential to induce chromosomal aberrations. Mutagenesis 15, 289-302. (Pubitemid 30612188)
-
(2000)
Mutagenesis
, vol.15
, Issue.4
, pp. 289-302
-
-
Pfeiffer, P.1
Goedecke, W.2
Obe, G.3
-
23
-
-
67649878596
-
The DNA replication FoSTeS/MMBIR mechanism can generate human genomic, genic, and exonic complex rearrangements
-
Zhang, F., Khajavi, M., Connolly, A.M., Towne, C.F., Batish, S.D., Lupski, J.R. (2009) The DNA replication FoSTeS/MMBIR mechanism can generate human genomic, genic, and exonic complex rearrangements. Nat Genet 41, 849-53.
-
(2009)
Nat Genet
, vol.41
, pp. 849-53
-
-
Zhang, F.1
Khajavi, M.2
Connolly, A.M.3
Towne, C.F.4
Batish, S.D.5
Lupski, J.R.6
-
24
-
-
66149120624
-
Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching
-
Carvalho, C.M., Zhang, F., Liu, P., Patel, A., Sahoo, T., Bacino, C.A., Shaw, C., Peacock, S., Pursley, A., Tavyev, Y.J., Ramocki, M.B., Nawara, M., Obersztyn, E., Vianna-Morgante, A.M., Stankiewicz, P., Zoghbi, H.Y., Cheung, S.W., Lupski, J.R. (2009) Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. Hum Mol Genet 18, 2188-203.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 2188-203
-
-
Carvalho, C.M.1
Zhang, F.2
Liu, P.3
Patel, A.4
Sahoo, T.5
Bacino, C.A.6
Shaw, C.7
Peacock, S.8
Pursley, A.9
Tavyev, Y.J.10
Ramocki, M.B.11
Nawara, M.12
Obersztyn, E.13
Vianna-Morgante, A.M.14
Stankiewicz, P.15
Zoghbi, H.Y.16
Cheung, S.W.17
Lupski, J.R.18
-
25
-
-
59149099919
-
LIS1 increased expression affects human and mouse brain development
-
Bi, W., Sapir, T., Shchelochkov, O.A., Zhang, F., Withers, M.A., Hunter, J.V., Levy, T., Shinder, V., Peiffer, D.A., Gunderson, K.L., Nezarati, M.M., Shotts, V.A., Amato, S.S., Savage, S.K., Harris, D.J., Day-Salvatore, D.L., Horner, M., Lu, X.Y., Sahoo, T., Yanagawa, Y., Beaudet, A.L., Cheung, S.W., Martinez, S., Lupski, J.R., Reiner, O. (2008) LIS1 increased expression affects human and mouse brain development. Nat Genet 41, 168-77.
-
(2008)
Nat Genet
, vol.41
, pp. 168-77
-
-
Bi, W.1
Sapir, T.2
Shchelochkov, O.A.3
Zhang, F.4
Withers, M.A.5
Hunter, J.V.6
Levy, T.7
Shinder, V.8
Peiffer, D.A.9
Gunderson, K.L.10
Nezarati, M.M.11
Shotts, V.A.12
Amato, S.S.13
Savage, S.K.14
Harris, D.J.15
Day-Salvatore, D.L.16
Horner, M.17
Lu, X.Y.18
Sahoo, T.19
Yanagawa, Y.20
Beaudet, A.L.21
Cheung, S.W.22
Martinez, S.23
Lupski, J.R.24
Reiner, O.25
more..
-
26
-
-
70350167612
-
Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment
-
Nagamani, S.C.S., Zhang, F., Shchelochkov, O.A., Bi, W., Ou, Z., Scaglia, F., Probst, F.J., Shinawi, M., Eng, C., Hunter, J.V., Sparagana, S., Lagoe, E., Fong, C.T., Pearson, M., Doco-Fenzy, M., Landais, E., Mozelle, M., Chinault, A.C., Patel, A., Bacino, C.A., Sahoo, T., Kang, S.H., Cheung, S.W., Lupski, J.R., Stankiewicz, P. (2009) Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment. J Med Genet 46, 825-33.
-
(2009)
J Med Genet
, vol.46
, pp. 825-33
-
-
Nagamani, S.C.S.1
Zhang, F.2
Shchelochkov, O.A.3
Bi, W.4
Ou, Z.5
Scaglia, F.6
Probst, F.J.7
Shinawi, M.8
Eng, C.9
Hunter, J.V.10
Sparagana, S.11
Lagoe, E.12
Fong, C.T.13
Pearson, M.14
Doco-Fenzy, M.15
Landais, E.16
Mozelle, M.17
Chinault, A.C.18
Patel, A.19
Bacino, C.A.20
Sahoo, T.21
Kang, S.H.22
Cheung, S.W.23
Lupski, J.R.24
Stankiewicz, P.25
more..
-
27
-
-
65549090043
-
Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome
-
Yatsenko, S.A., Brundage, E.K., Roney, E.K., Cheung, S.W., Chinault, A.C., Lupski, J.R. (2009) Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome. Hum Mol Genet 18, 1924-36.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 1924-36
-
-
Yatsenko, S.A.1
Brundage, E.K.2
Roney, E.K.3
Cheung, S.W.4
Chinault, A.C.5
Lupski, J.R.6
-
28
-
-
70350776635
-
Rare pathogenic microdeletions and tandem duplications are microhomologymediated and stimulated by local genomic architecture
-
Vissers, L.E.L.M., Bhatt, S.S., Janssen, I.M., Xia, Z., Lalani, S.R., Pfundt, R., Derwinska, K., de Vries, B.B.A., Gilissen, C., Hoischen, A., Nesteruk, M., Wisniowiecka-Kowalnik, B., Smyk, M., Brunner, H.G., Cheung, S.W., van Kessel, A.D, Veltman, J.A., Stankiewicz, P. (2009) Rare pathogenic microdeletions and tandem duplications are microhomologymediated and stimulated by local genomic architecture. Hum Molec Genet 18, 3579-93.
-
(2009)
Hum Molec Genet
, vol.18
, pp. 3579-93
-
-
Vissers, L.E.L.M.1
Bhatt, S.S.2
Janssen, I.M.3
Xia, Z.4
Lalani, S.R.5
Pfundt, R.6
Derwinska, K.7
De Vries, B.B.A.8
Gilissen, C.9
Hoischen, A.10
Nesteruk, M.11
Wisniowiecka-Kowalnik, B.12
Smyk, M.13
Brunner, H.G.14
Cheung, S.W.15
Van Kessel, A.D.16
Veltman, J.A.17
Stankiewicz, P.18
-
29
-
-
0034513406
-
Molecular mechanisms for constitutional chromosomal rearragements in humans
-
DOI 10.1146/annurev.genet.34.1.297
-
Shaffer, L.G., and Lupski J.R. (2000) Molecular mechanisms for constitutional chromosomal rearrangements in humans. Annu Rev Genet 34, 297-329. (Pubitemid 32065924)
-
(2000)
Annual Review of Genetics
, vol.34
, pp. 297-329
-
-
Shaffer, L.G.1
Lupski, J.R.2
-
30
-
-
34347349069
-
Genomic rearrangements and sporadic disease
-
DOI 10.1038/ng2084, PII NG2084
-
Lupski, J.R. (2007) Genomic rearrangements and sporadic disease. Nat Genet 39, S43-7. (Pubitemid 47014475)
-
(2007)
Nature Genetics
, vol.39
, Issue.SUPPL. 1
-
-
Lupski, J.R.1
-
31
-
-
37549018501
-
Germline rates of de novo meiotic deletions and duplications causing several genomic disorders
-
Turner, D.J., Miretti, M., Rajan, D., Fiegler, H., Carter, N.P., Blayney, M.L., Beck, S., Hurles, M.E. (2008) Germline rates of de novo meiotic deletions and duplications causing several genomic disorders. Nat Genet 40, 90-5.
-
(2008)
Nat Genet
, vol.40
, pp. 90-5
-
-
Turner, D.J.1
Miretti, M.2
Rajan, D.3
Fiegler, H.4
Carter, N.P.5
Blayney, M.L.6
Beck, S.7
Hurles, M.E.8
-
32
-
-
10744221892
-
Fifty microdeletions among 112 cases of sotos syndrome: low copy repeats possibly mediate the common deletion
-
DOI 10.1002/humu.10270
-
Kurotaki, N., Harada, N., Shimokawa, O., Miyake, N., Kawame, H., Uetake, K., Makita, Y., Kondoh, T., Ogata, T., Hasegawa, T., Nagai, T., Ozaki, T., Touyama, M., Shenhav, R., Ohashi, H., Medne, L., Shiihara, T., Ohtsu, S., Kato, Z., Okamoto, N., Nishimoto, J., Lev, D., Miyoshi, Y., Ishikiriyama, S., Sonoda, T., Sakazume, S., Fukushima, Y., Kurosawa, K., Cheng, J.F., Yoshiura, K., Ohta, T., Kishino, T., Niikawa, N., Matsumoto, N. (2003) Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion. Hum Mutat 22, 378-87. (Pubitemid 37346110)
-
(2003)
Human Mutation
, vol.22
, Issue.5
, pp. 378-387
-
-
Kurotaki, N.1
Harada, N.2
Shimokawa, O.3
Miyake, N.4
Kawame, H.5
Uetake, K.6
Makita, Y.7
Kondoh, T.8
Ogata, T.9
Hasegawa, T.10
Nagai, T.11
Ozaki, T.12
Touyama, M.13
Shenhav, R.14
Ohashi, H.15
Medne, L.16
Shiihara, T.17
Ohtsu, S.18
Kato, Z.-I.19
Okamoto, N.20
Nishimoto, J.21
Lev, D.22
Miyoshi, Y.23
Ishikiriyama, S.24
Sonoda, T.25
Sakazume, S.26
Fukushima, Y.27
Kurosawa, K.28
Cheng, J.-F.29
Yoshiura, K.-I.30
Ohta, T.31
Kishino, T.32
Niikawa, N.33
Matsumoto, N.34
more..
-
33
-
-
56049085381
-
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome
-
Koolen, D.A., Sharp, A.J., Hurst, J.A., Firth, H.V., Knight, S.J., Goldenberg, A., Saugier-Veber, P., Pfundt, R., Vissers, L.E., Destree, A., Grisart, B., Rooms, L., Van der, A.N., Field, M., Hackett, A., Bell, K., Nowaczyk, M.J., Mancini, G.M., Poddighe, P.J., Schwartz, C.E., Rossi, E., De, G.M., ntonacci-Fulton, L.L., McLellan, M.D., Garrett, J.M., Wiechert, M.A., Miner, T.L., Crosby, S., Ciccone, R., Willatt, L., Rauch, A., Zenker, M., Aradhya, S., Manning, M.A., Strom, T.M., Wagenstaller, J., Krepischi-Santos, A.C., Vianna-Morgante, A.M., Rosenberg, C., Price, S.M., Stewart, H., Shaw-Smith, C., Brunner, H.G., Wilkie, A.O., Veltman, J.A., Zuffardi, O., Eichler, E.E., de Vries, B.B. (2008) Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. J Med Genet 45, 710-20.
-
(2008)
J Med Genet
, vol.45
, pp. 710-20
-
-
Koolen, D.A.1
Sharp, A.J.2
Hurst, J.A.3
Firth, H.V.4
Knight, S.J.5
Goldenberg, A.6
Saugier-Veber, P.7
Pfundt, R.8
Vissers, L.E.9
Destree, A.10
Grisart, B.11
Rooms, L.12
Van Der, A.N.13
Field, M.14
Hackett, A.15
Bell, K.16
Nowaczyk, M.J.17
Mancini, G.M.18
Poddighe, P.J.19
Schwartz, C.E.20
Rossi, E.21
De, G.M.22
Ntonacci-Fulton, L.L.23
McLellan, M.D.24
Garrett, J.M.25
Wiechert, M.A.26
Miner, T.L.27
Crosby, S.28
Ciccone, R.29
Willatt, L.30
Rauch, A.31
Zenker, M.32
Aradhya, S.33
Manning, M.A.34
Strom, T.M.35
Wagenstaller, J.36
Krepischi-Santos, A.C.37
Vianna-Morgante, A.M.38
Rosenberg, C.39
Price, S.M.40
Stewart, H.41
Shaw-Smith, C.42
Brunner, H.G.43
Wilkie, A.O.44
Veltman, J.A.45
Zuffardi, O.46
Eichler, E.E.47
De Vries, B.B.48
more..
-
34
-
-
13944278863
-
A common inversion under selection in Europeans
-
Stefansson, H., Helgason, A., Thorleifsson, G., Steinthorsdottir, V., Masson, G., Barnard, J., Baker, A., Jonasdottir, A., Ingason, A., Gudnadottir, V.G., Desnica, N., Hicks, A., Gylfason, A., Gudbjartsson, D.F., Jonsdottir, G.M., Sainz, J., Agnarsson, K., Birgisdottir, B., Ghosh, S., Olafsdottir, A., Cazier, J.B., Kristjansson, K., Frigge, M.L., Thorgeirsson, T.E., Gulcher, J.R., Kong, A., Stefansson, K. (2005) A common inversion under selection in Europeans. Nat Genet 37, 129-37.
-
(2005)
Nat Genet
, vol.37
, pp. 129-37
-
-
Stefansson, H.1
Helgason, A.2
Thorleifsson, G.3
Steinthorsdottir, V.4
Masson, G.5
Barnard, J.6
Baker, A.7
Jonasdottir, A.8
Ingason, A.9
Gudnadottir, V.G.10
Desnica, N.11
Hicks, A.12
Gylfason, A.13
Gudbjartsson, D.F.14
Jonsdottir, G.M.15
Sainz, J.16
Agnarsson, K.17
Birgisdottir, B.18
Ghosh, S.19
Olafsdottir, A.20
Cazier, J.B.21
Kristjansson, K.22
Frigge, M.L.23
Thorgeirsson, T.E.24
Gulcher, J.R.25
Kong, A.26
Stefansson, K.27
more..
-
35
-
-
20544462642
-
Segmental duplications and copy-number variation in the human genome
-
DOI 10.1086/431652
-
Sharp, A.J., Locke, D.P., McGrath, S.D., Cheng, Z., Bailey, J.A., Vallente, R.U., Pertz, L.M., Clark, R.A., Schwartz, S., Segraves, R., Oseroff, V.V., Albertson, D.G., Pinkel, D., Eichler, E.E. (2005) Segmental duplications and copy-number variation in the human genome. Am J Hum Genet 77, 78-88. (Pubitemid 40848038)
-
(2005)
American Journal of Human Genetics
, vol.77
, Issue.1
, pp. 78-88
-
-
Sharp, A.J.1
Locke, D.P.2
McGrath, S.D.3
Cheng, Z.4
Bailey, J.A.5
Vallente, R.U.6
Pertz, L.M.7
Clark, R.A.8
Schwartz, S.9
Segraves, R.10
Oseroff, V.V.11
Albertson, D.G.12
Pinkel, D.13
Eichler, E.E.14
-
36
-
-
33748333194
-
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome
-
DOI 10.1038/ng1862, PII NG1862
-
Sharp, A.J., Hansen, S., Selzer, R.R., Cheng, Z., Regan, R., Hurst, J.A., Stewart, H., Price, S.M., Blair, E., Hennekam, R.C., Fitzpatrick, C.A., Segraves, R., Richmond, T.A., Guiver, C., Albertson, D.G., Pinkel, D., Eis, P.S., Schwartz, S., Knight, S.J., Eichler, E.E. (2006) Discovery of previously unidentifi ed genomic disorders from the duplication architecture of the human genome. Nat Genet 38, 1038-42. (Pubitemid 44325929)
-
(2006)
Nature Genetics
, vol.38
, Issue.9
, pp. 1038-1042
-
-
Sharp, A.J.1
Hansen, S.2
Selzer, R.R.3
Cheng, Z.4
Regan, R.5
Hurst, J.A.6
Stewart, H.7
Price, S.M.8
Blair, E.9
Hennekam, R.C.10
Fitzpatrick, C.A.11
Segraves, R.12
Richmond, T.A.13
Guiver, C.14
Albertson, D.G.15
Pinkel, D.16
Eis, P.S.17
Schwartz, S.18
Knight, S.J.L.19
Eichler, E.E.20
more..
-
37
-
-
0029022770
-
Rubinstein-Taybi syndrome caused by mutations in the transcriptional coactivator CBP
-
Petrij, F., Giles, R. H., Dauwerse, H. G., Saris, J. J., Hennekam, R. C. M., Masuno, M., Tommerup, N., van Ommen, G. J. B., Goodman, R. H., Peters, D. J. M., Breuning, M. H. (1995) Rubinstein-Taybi syndrome caused by mutations in the transcriptional coactivator CBP. Nature 376, 348-51.
-
(1995)
Nature
, vol.376
, pp. 348-51
-
-
Petrij, F.1
Giles, R.H.2
Dauwerse, H.G.3
Saris, J.J.4
Hennekam, R.C.M.5
Masuno, M.6
Tommerup, N.7
Van Ommen, G.J.B.8
Goodman, R.H.9
Peters, D.J.M.10
Breuning, M.H.11
-
38
-
-
0031031570
-
De novo truncating mutations in E6-Ap ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome
-
DOI 10.1038/ng0197-74
-
Matsuura, T., Sutcliffe, J.S., Fang, P., Galjaard, R.-J., Jiang, Y., Benton, C.S., Rommens, J.M., Beaudet, A.L. (1997) De novo truncating mutations in E6-AP ubiquitin-protein ligase gene ( UBE3A ) in Angelman syndrome. Nat Genet 15, 74-7. (Pubitemid 27014953)
-
(1997)
Nature Genetics
, vol.15
, Issue.1
, pp. 74-77
-
-
Matsuura, T.1
Sutcliffe, J.S.2
Fang, P.3
Galjaard, R.-J.4
Jiang, Y.-H.5
Benton, C.S.6
Rommens, J.M.7
Beaudet, A.L.8
-
39
-
-
0038875342
-
Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1
-
Li, L., Krantz, I.D., Deng, Y., Genin, A., Banta, A.B., Collins, C.C., Qi, M., Trask, B.J., Kuo, W.L., Cochran, J., Costa, T., Pierpont, M.E., Rand, E.B., Piccoli, D.A., Hood, L., Spinner, N.B. (1997) Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. Nat Genet 16, 243-51.
-
(1997)
Nat Genet
, vol.16
, pp. 243-51
-
-
Li, L.1
Krantz, I.D.2
Deng, Y.3
Genin, A.4
Banta, A.B.5
Collins, C.C.6
Qi, M.7
Trask, B.J.8
Kuo, W.L.9
Cochran, J.10
Costa, T.11
Pierpont, M.E.12
Rand, E.B.13
Piccoli, D.A.14
Hood, L.15
Spinner, N.B.16
-
40
-
-
0032830639
-
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl- CpG-binding protein 2
-
DOI 10.1038/13810
-
Amir, R.E., Van den Veyver, I.B., Wan, M., Tran, C.Q., Francke, U., Zoghbi, H.Y. (1999) Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpGbinding protein 2. Nat Genet 23, 185-8. (Pubitemid 29455390)
-
(1999)
Nature Genetics
, vol.23
, Issue.2
, pp. 185-188
-
-
Amir, R.E.1
Van Den Veyver, I.B.2
Wan, M.3
Tran, C.Q.4
Francke, U.5
Zoghbi, H.Y.6
-
41
-
-
18544384537
-
Haploinsuffi ciency of NSD1 causes Sotos syndrome
-
Kurotaki, N., Imaizumi, K., Harada, N., Masuno, M., Kondoh, T., Nagai, T., Ohashi, H., Naritomi, K., Tsukahara, M., Makita, Y., Sugimoto, T., Sonoda, T., Hasegawa, T., Chinen, Y., Tomita Ha, H.A., Kinoshita, A., Mizuguchi, T., Yoshiura Ki, K., Ohta, T., Kishino, T., Fukushima, Y., Niikawa, N., Matsumoto, N. (2002) Haploinsuffi ciency of NSD1 causes Sotos syndrome. Nat Genet 30, 365-6.
-
(2002)
Nat Genet
, vol.30
, pp. 365-6
-
-
Kurotaki, N.1
Imaizumi, K.2
Harada, N.3
Masuno, M.4
Kondoh, T.5
Nagai, T.6
Ohashi, H.7
Naritomi, K.8
Tsukahara, M.9
Makita, Y.10
Sugimoto, T.11
Sonoda, T.12
Hasegawa, T.13
Chinen, Y.14
Tomita Ha, H.A.15
Kinoshita, A.16
Mizuguchi, T.17
Yoshiura Ki, K.18
Ohta, T.19
Kishino, T.20
Fukushima, Y.21
Niikawa, N.22
Matsumoto, N.23
more..
-
42
-
-
0344177207
-
Mutations in RAI1 associated with Smith-Magenis syndrome
-
DOI 10.1038/ng1126
-
Slager, R.E., Newton, T.L., Vlangos, C.N., Finucane, B., Elsea, S.H. (2003) Mutations in RAI1 associated with Smith-Magenis syndrome. Nat Genet 33, 466-8. (Pubitemid 36390007)
-
(2003)
Nature Genetics
, vol.33
, Issue.4
, pp. 466-468
-
-
Slager, R.E.1
Newton, T.L.2
Vlangos, C.N.3
Finucane, B.4
Elsea, S.H.5
-
43
-
-
4444239112
-
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
-
DOI 10.1038/ng1407
-
Vissers, L.E.L.M., van Ravenswaaij, C.M., Admiraal, R., Hurst, J.A., de Vries, B.B., Janssen, I.M., van der Vliet, W.A., Huys, E.H., de Jong, P.J., Hamel, B.C., Schoenmakers, E.F., Brunner, H.G., Veltman, J.A., van Kessel, A.G. (2004) Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet 36, 955-7. (Pubitemid 39167490)
-
(2004)
Nature Genetics
, vol.36
, Issue.9
, pp. 955-957
-
-
Vissers, L.E.L.M.1
Van Ravenswaaij, C.M.A.2
Admiraal, R.3
Hurst, J.A.4
De Vries, B.B.A.5
Janssen, I.M.6
Van Der Vliet, W.A.7
Huys, E.H.L.P.G.8
De Jong, P.J.9
Hamel, B.C.J.10
Schoenmakers, E.F.P.M.11
Brunner, H.G.12
Veltman, J.A.13
Van Kessel, A.G.14
-
44
-
-
2642542322
-
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B
-
DOI 10.1038/ng1364
-
Krantz, I. D., McCallum, J., DeScipio, C., Kaur, M., Gillis, L. A., Yaeger, D., Jukofsky, L., Wasserman, N., Bottani, A., Morris, C. A., Nowaczyk, M. J. M., Toriello, H., Bamshad, M.J., Carey, J.C., Rappaport, E., Kawauchi, S., Lander, A.D., Calof, A.L., Li, H.H., Devoto, M., Jackson, L.G. (2004) Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet 36, 631-5. (Pubitemid 38715992)
-
(2004)
Nature Genetics
, vol.36
, Issue.6
, pp. 631-635
-
-
Krantz, I.D.1
McCallum, J.2
DeScipio, C.3
Kaur, M.4
Gillis, L.A.5
Yaeger, D.6
Jukofsky, L.7
Wasserman, N.8
Bottani, A.9
Morris, C.A.10
Nowaczyk, M.J.M.11
Toriello, H.12
Bamshad, M.J.13
Carey, J.C.14
Rappaport, E.15
Kawauchi, S.16
Lander, A.D.17
Calof, A.L.18
Li, H.-H.19
Devoto, M.20
Jackson, L.G.21
more..
-
45
-
-
2642565901
-
NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome
-
DOI 10.1038/ng1363
-
Tonkin, E. T., Wang, T.-J., Lisgo, S., Bamshad, M. J., Strachan, T. (2004) NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fl y Nipped-B, is mutated in Cornelia de Lange syndrome. Nat Genet 36, 636-41. (Pubitemid 38715993)
-
(2004)
Nature Genetics
, vol.36
, Issue.6
, pp. 636-641
-
-
Tonkin, E.T.1
Wang, T.-J.2
Lisgo, S.3
Bamshad, M.J.4
Strachan, T.5
-
46
-
-
20944433656
-
MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome
-
DOI 10.1038/ng1546
-
van Bokhoven, H., Celli, J., van Reeuwijk, J., Rinne, T., Glaudemans, B., van Beusekom, E., Rieu, P., Newbury-Ecob, R.A., Chiang, C., Brunner, H.G. (2005) MYCN haploinsuffi -ciency is associated with reduced brain size and intestinal atresias in Feingold syndrome. Nat Genet 37, 465-7. (Pubitemid 40617272)
-
(2005)
Nature Genetics
, vol.37
, Issue.5
, pp. 465-467
-
-
Van Bokhoven, H.1
Celli, J.2
Van Reeuwijk, J.3
Rinne, T.4
Glaudemans, B.5
Van Beusekom, E.6
Rieu, P.7
Newbury-Ecob, R.A.8
Chiang, C.9
Brunner, H.G.10
-
47
-
-
66449113643
-
Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations
-
Stankiewicz, P., Sen, P., Bhatt, S.S., Storer, M., Xia, Z., Bejjani, B.A., Ou, Z., Wiszniewska, J., Driscoll, D.J., Maisenbacher, M.K., Bolivar, J., Bauer, M., Zackai, E.H., McDonald-McGinn, D., Nowaczyk, M.M., Murray, M., Hustead, V., Mascotti, K., Schultz, R., Hallam, L., McRae, D., Nicholson, A.G., Newbury, R., Durham-ODonnell, J., Knight, G., Kini, U., Shaikh, T.H., Martin, V., Tyreman, M., Simonic, I., Willatt, L., Paterson, J., Mehta, S., Rajan, D., Fitzgerald, T., Gribble, S., Prigmore, E., Patel, A., Shaffer, L.G., Carter, N.P., Cheung, S.W., Langston, C, Shaw-Smith, C. (2009) Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. Am J Hum Genet 84, 780-91.
-
(2009)
Am J Hum Genet
, vol.84
, pp. 780-91
-
-
Stankiewicz, P.1
Sen, P.2
Bhatt, S.S.3
Storer, M.4
Xia, Z.5
Bejjani, B.A.6
Ou, Z.7
Wiszniewska, J.8
Driscoll, D.J.9
Maisenbacher, M.K.10
Bolivar, J.11
Bauer, M.12
Zackai, E.H.13
McDonald-Mcginn, D.14
Nowaczyk, M.M.15
Murray, M.16
Hustead, V.17
Mascotti, K.18
Schultz, R.19
Hallam, L.20
McRae, D.21
Nicholson, A.G.22
Newbury, R.23
Durham-Odonnell, J.24
Knight, G.25
Kini, U.26
Shaikh, T.H.27
Martin, V.28
Tyreman, M.29
Simonic, I.30
Willatt, L.31
Paterson, J.32
Mehta, S.33
Rajan, D.34
Fitzgerald, T.35
Gribble, S.36
Prigmore, E.37
Patel, A.38
Shaffer, L.G.39
Carter, N.P.40
Cheung, S.W.41
Langston, C.42
Shaw-Smith, C.43
more..
-
48
-
-
25444432040
-
Diagnostic genome profiling in mental retardation
-
DOI 10.1086/491719
-
de Vries, B.B., Pfundt, R., Leisink, M., Koolen, D.A., Vissers, L.E., Janssen, I.M., Reijmersdal, S., Nillesen, W.M., Huys, E.H., Leeuw, N., Smeets, D., Sistermans, E.A., Feuth, T., van Ravenswaaij-Arts, C.M., van Kessel, A.G., Schoenmakers, E.F., Brunner, H.G., Veltman, J.A. (2005) Diagnostic genome profi ling in mental retardation. Am J Hum Genet 77, 606-16. (Pubitemid 41361607)
-
(2005)
American Journal of Human Genetics
, vol.77
, Issue.4
, pp. 606-616
-
-
De Vries, B.B.A.1
Pfundt, R.2
Leisink, M.3
Koolen, D.A.4
Vissers, L.E.L.M.5
Janssen, I.M.6
Van Reijmersdal, S.7
Nillesen, W.M.8
Huys, E.H.L.P.G.9
De Leeuw, N.10
Smeets, D.11
Sistermans, E.A.12
Feuth, T.13
Van Ravenswaaij-Arts, C.M.A.14
Van Kessel, A.G.15
Schoenmakers, E.F.P.M.16
Brunner, H.G.17
Veltman, J.A.18
-
49
-
-
24944478689
-
Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH)
-
DOI 10.1136/jmg.2004.029637
-
Schoumans, J., Ruivenkamp, C., Holmberg, E., Kyllerman, M., Anderlid, B.M., Nordenskjold, M. (2005) Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH). J Med Genet 42, 699-705. (Pubitemid 41306060)
-
(2005)
Journal of Medical Genetics
, vol.42
, Issue.9
, pp. 699-705
-
-
Schoumans, J.1
Ruivenkamp, C.2
Holmberg, E.3
Kyllerman, M.4
Anderlid, B.-M.5
Nordenskjold, M.6
-
50
-
-
33847327313
-
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
-
Autism Genome Project Consortium (AGPC)
-
Autism Genome Project Consortium (AGPC)., Szatmari, P., Paterson, A.D., Zwaigenbaum, L., Roberts, W., Brian, J., Liu, X.Q., Vincent, J.B., Skaug, J.L., Thompson, A.P., Senman, L., Feuk, L., Qian, C., Bryson, S.E., Jones, M.B., Marshall, C.R., Scherer, S.W., Vieland, V.J., Bartlett, C., Mangin, L.V., Goedken, R., Segre, A., Pericak-Vance, M.A., Cuccaro, M.L., Gilbert, J.R., Wright, H.H., Abramson, R.K., Betancur, C., Bourgeron, T., Gillberg, C., Leboyer, M., Buxbaum, J.D., Davis, K.L., Hollander, E., Silverman, J.M., Hallmayer, J., Lotspeich, L., Sutcliffe, J.S., Haines, J.L., Folstein, S.E., Piven, J., Wassink, T.H., Sheffi eld, V., Geschwind, D.H., Bucan, M., Brown, W.T., Cantor, R.M., Constantino, J.N., Gilliam, T.C., Herbert, M., Lajonchere, C., Ledbetter, D.H., Lese-Martin, C., Miller, J., Nelson, S., Samango-Sprouse, C.A., Spence, S., State, M., Tanzi, R.E., Coon, H., Dawson, G., Devlin, B., Estes, A., Flodman, P., Klei, L., McMahon, W.M., Minshew, N., Munson, J., Korvatska, E., Rodier, P.M., Schellenberg, G.D., Smith, M., Spence, M.A., Stodgell, C., Tepper, P.G., Wijsman, E.M., Yu, C.E., Rogé, B., Mantoulan, C., Wittemeyer, K., Poustka, A., Felder, B., Klauck, S.M., Schuster, C., Poustka, F., Bölte, S., Feineis-Matthews, S., Herbrecht, E., Schmötzer, G., Tsiantis, J., Papanikolaou, K., Maestrini, E., Bacchelli, E., Blasi, F., Carone, S., Toma, C., Van Engeland, H., de Jonge, M., Kemner, C., Koop, F., Langemeijer, M., Hijmans, C., Staal, W.G., Baird, G., Bolton, P.F., Rutter, M.L., Weisblatt, E., Green, J., Aldred, C., Wilkinson, J.A., Pickles, A., Le Couteur, A., Berney, T., McConachie, H., Bailey, A.J., Francis, K., Honeyman, G., Hutchinson, A., Parr, J.R., Wallace, S., Monaco, A.P., Barnby, G., Kobayashi, K., Lamb, J.A., Sousa, I., Sykes, N., Cook, E.H., Guter, S.J., Leventhal, B.L., Salt, J., Lord, C., Corsello, C., Hus, V., Weeks, D.E., Volkmar, F., Tauber, M., Fombonne, E., Shih, A., Meyer, K.J. (2007) Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet 39, 19-28.
-
(2007)
Nat Genet
, vol.39
, pp. 19-28
-
-
Szatmari, P.1
Paterson, A.D.2
Zwaigenbaum, L.3
Roberts, W.4
Brian, J.5
Liu, X.Q.6
Vincent, J.B.7
Skaug, J.L.8
Thompson, A.P.9
Senman, L.10
Feuk, L.11
Qian, C.12
Bryson, S.E.13
Jones, M.B.14
Marshall, C.R.15
Scherer, S.W.16
Vieland, V.J.17
Bartlett, C.18
Mangin, L.V.19
Goedken, R.20
Segre, A.21
Pericak-Vance, M.A.22
Cuccaro, M.L.23
Gilbert, J.R.24
Wright, H.H.25
Abramson, R.K.26
Betancur, C.27
Bourgeron, T.28
Gillberg, C.29
Leboyer, M.30
Buxbaum, J.D.31
Davis, K.L.32
Hollander, E.33
Silverman, J.M.34
Hallmayer, J.35
Lotspeich, L.36
Sutcliffe, J.S.37
Haines, J.L.38
Folstein, S.E.39
Piven, J.40
Wassink, T.H.41
Sheffi Eld, V.42
Geschwind, D.H.43
Bucan, M.44
Brown, W.T.45
Cantor, R.M.46
Constantino, J.N.47
Gilliam, T.C.48
Herbert, M.49
Lajonchere, C.50
Ledbetter, D.H.51
Lese-Martin, C.52
Miller, J.53
Nelson, S.54
Samango-Sprouse, C.A.55
Spence, S.56
State, M.57
Tanzi, R.E.58
Coon, H.59
Dawson, G.60
Devlin, B.61
Estes, A.62
Flodman, P.63
Klei, L.64
McMahon, W.M.65
Minshew, N.66
Munson, J.67
Korvatska, E.68
Rodier, P.M.69
Schellenberg, G.D.70
Smith, M.71
Spence, M.A.72
Stodgell, C.73
Tepper, P.G.74
Wijsman, E.M.75
Yu, C.E.76
Rogé, B.77
Mantoulan, C.78
Wittemeyer, K.79
Poustka, A.80
Felder, B.81
Klauck, S.M.82
Schuster, C.83
Poustka, F.84
Bölte, S.85
Feineis-Matthews, S.86
Herbrecht, E.87
Schmötzer, G.88
Tsiantis, J.89
Papanikolaou, K.90
Maestrini, E.91
Bacchelli, E.92
Blasi, F.93
Carone, S.94
Toma, C.95
Van Engeland, H.96
De Jonge, M.97
Kemner, C.98
Koop, F.99
more..
-
51
-
-
34247481814
-
Strong association of de novo copy number mutations with autism
-
DOI 10.1126/science.1138659
-
Sebat, J., Lakshmi, B., Malhotra, D., Troge, J., Lese-Martin, C., Walsh, T., Yamrom, B., Yoon, S., Krasnitz, A., Kendall, J., Leotta, A., Pai, D., Zhang, R., Lee, Y.H., Hicks, J., Spence, S.J., Lee, A.T., Puura, K., Lehtimaki, T., Ledbetter, D., Gregersen, P.K., Bregman, J., Sutcliffe, J.S., Jobanputra, V., Chung, W., Warburton, D., King, M.C., Skuse, D., Geschwind, D.H., Gilliam, T.C., Ye, K., Wigler, M. (2007) Strong association of de novo copy-number mutations with autism. Science 316, 445-9. (Pubitemid 46651493)
-
(2007)
Science
, vol.316
, Issue.5823
, pp. 445-449
-
-
Sebat, J.1
Lakshmi, B.2
Malhotra, D.3
Troge, J.4
Lese-Martin, C.5
Walsh, T.6
Yamrom, B.7
Yoon, S.8
Krasnitz, A.9
Kendall, J.10
Leotta, A.11
Pai, D.12
Zhang, R.13
Lee, Y.-H.14
Hicks, J.15
Spence, S.J.16
Lee, A.T.17
Puura, K.18
Lehtimaki, T.19
Ledbetter, D.20
Gregersen, P.K.21
Bregman, J.22
Sutcliffe, J.S.23
Jobanputra, V.24
Chung, W.25
Warburton, D.26
King, M.-C.27
Skuse, D.28
Geschwind, D.H.29
Gilliam, T.C.30
Ye, K.31
Wigler, M.32
more..
-
52
-
-
40749089626
-
Structural variation of chromosomes in autism spectrum disorder
-
Marshall, C.R., Noor, A., Vincent, J.B., Lionel, A.C., Feuk, L., Skaug, J., Shago, M., Moessner, R., Pinto, D., Ren, Y., Thiruvahindrapduram, B., Fiebig, A., Schreiber, S., Friedman, J., Ketelaars, C.E., Vos, Y.J., Ficicioglu, C., Kirkpatrick, S., Nicolson, R., Sloman, L., Summers, A., Gibbons, C.A., Teebi, A., Chitayat, D., Weksberg, R., Thompson, A., Vardy, C., Crosbie, V., Luscombe, S., Baatjes, R., Zwaigenbaum, L., Roberts, W., Fernandez, B., Szatmari, P., Scherer, S.W. (2008) Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet 82, 477-88.
-
(2008)
Am J Hum Genet
, vol.82
, pp. 477-88
-
-
Marshall, C.R.1
Noor, A.2
Vincent, J.B.3
Lionel, A.C.4
Feuk, L.5
Skaug, J.6
Shago, M.7
Moessner, R.8
Pinto, D.9
Ren, Y.10
Thiruvahindrapduram, B.11
Fiebig, A.12
Schreiber, S.13
Friedman, J.14
Ketelaars, C.E.15
Vos, Y.J.16
Ficicioglu, C.17
Kirkpatrick, S.18
Nicolson, R.19
Sloman, L.20
Summers, A.21
Gibbons, C.A.22
Teebi, A.23
Chitayat, D.24
Weksberg, R.25
Thompson, A.26
Vardy, C.27
Crosbie, V.28
Luscombe, S.29
Baatjes, R.30
Zwaigenbaum, L.31
Roberts, W.32
Fernandez, B.33
Szatmari, P.34
Scherer, S.W.35
more..
-
53
-
-
51649107017
-
Rare chromosomal deletions and duplications increase risk of schizophrenia
-
International Schizophrenia Consortium
-
International Schizophrenia Consortium. (2008) Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature 455, 237-41.
-
(2008)
Nature
, vol.455
, pp. 237-41
-
-
-
54
-
-
58249088497
-
Genomic imbalances in neonates with birth defects: High detection rates by using chromosomal microarray analysis
-
Lu, X.Y., Phung, M.T., Shaw, C.A., Pham, K., Neil, S.E., Patel, A., Sahoo, T., Bacino, C.A., Stankiewicz, P., Kang, S.H., Lalani, S., Chinault, A.C., Lupski, J.R., Cheung, S.W., Beaudet, A.L. (2008) Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis. Pediatrics 122, 1310-8.
-
(2008)
Pediatrics
, vol.122
, pp. 1310-8
-
-
Lu, X.Y.1
Phung, M.T.2
Shaw, C.A.3
Pham, K.4
Neil, S.E.5
Patel, A.6
Sahoo, T.7
Bacino, C.A.8
Stankiewicz, P.9
Kang, S.H.10
Lalani, S.11
Chinault, A.C.12
Lupski, J.R.13
Cheung, S.W.14
Beaudet, A.L.15
-
55
-
-
67649667022
-
Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: A multicenter study
-
McMullan, D.J., Bonin, M., Hehir-Kwa, J.Y., de Vries, B.B., Dufke, A., Rattenberry, E., Steehouwer, M., Moruz, L., Pfundt, R., de, L.N., Riess, A., tug-Teber, O., Enders, H., Singer, S., Grasshoff, U., Walter, M., Walker, J.M., Lamb, C.V., Davison, E.V., Brueton, L., Riess, O., Veltman, J.A. (2009) Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: A multicenter study. Hum Mutat 30, 1082-92.
-
(2009)
Hum Mutat
, vol.30
, pp. 1082-92
-
-
McMullan, D.J.1
Bonin, M.2
Hehir-Kwa, J.Y.3
De Vries, B.B.4
Dufke, A.5
Rattenberry, E.6
Steehouwer, M.7
Moruz, L.8
Pfundt, R.9
De, L.N.10
Riess, A.11
Tug-Teber, O.12
Enders, H.13
Singer, S.14
Grasshoff, U.15
Walter, M.16
Walker, J.M.17
Lamb, C.V.18
Davison, E.V.19
Brueton, L.20
Riess, O.21
Veltman, J.A.22
more..
-
56
-
-
76349083132
-
Large, rare chromosomal deletions associated with severe early-onset obesity
-
Bochukova, E.G., Huang, N., Keogh, J., Henning, E., Purmann, C., Blaszczyk, K., Saeed, S., Hamilton-Shield, J., Clayton-Smith, J., ORahilly, S., Hurles, M.E., Farooqi, I.S. (2010) Large, rare chromosomal deletions associated with severe early-onset obesity. Nature, 463, 666-70
-
(2010)
Nature
, vol.463
, pp. 666-70
-
-
Bochukova, E.G.1
Huang, N.2
Keogh, J.3
Henning, E.4
Purmann, C.5
Blaszczyk, K.6
Saeed, S.7
Hamilton-Shield, J.8
Clayton-Smith, J.9
Orahilly, S.10
Hurles, M.E.11
Farooqi, I.S.12
-
57
-
-
74249088463
-
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies
-
de Kovel, C.G., Trucks, H., Helbig, I., Mefford, H.C., Baker, C., Leu, C., Kluck, C., Muhle, H., von Spiczak, S., Ostertag, P., Obermeier, T., Kleefuss-Lie, A.A., Hallmann, K., Steffens, M., Gaus, V., Klein, K.M., Hamer, H.M., Rosenow, F., Brilstra, E.H., Trenité, D.K., Swinkels, M.E., Weber, Y.G., Unterberger, I., Zimprich, F., Urak, L., Feucht, M., Fuchs, K., Møller, R.S., Hjalgrim, H., De Jonghe, P., Suls, A., Rückert, I.M., Wichmann, H.E., Franke, A., Schreiber, S., Nürnberg, P., Elger, C.E., Lerche, H., Stephani, U., Koeleman, B.P., Lindhout, D., Eichler, E.E., Sander, T. (2010) Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain 133, 23-32.
-
(2010)
Brain
, vol.133
, pp. 23-32
-
-
De Kovel, C.G.1
Trucks, H.2
Helbig, I.3
Mefford, H.C.4
Baker, C.5
Leu, C.6
Kluck, C.7
Muhle, H.8
Von Spiczak, S.9
Ostertag, P.10
Obermeier, T.11
Kleefuss-Lie, A.A.12
Hallmann, K.13
Steffens, M.14
Gaus, V.15
Klein, K.M.16
Hamer, H.M.17
Rosenow, F.18
Brilstra, E.H.19
Trenité, D.K.20
Swinkels, M.E.21
Weber, Y.G.22
Unterberger, I.23
Zimprich, F.24
Urak, L.25
Feucht, M.26
Fuchs, K.27
Møller, R.S.28
Hjalgrim, H.29
De Jonghe, P.30
Suls, A.31
Rückert, I.M.32
Wichmann, H.E.33
Franke, A.34
Schreiber, S.35
Nürnberg, P.36
Elger, C.E.37
Lerche, H.38
Stephani, U.39
Koeleman, B.P.40
Lindhout, D.41
Eichler, E.E.42
Sander, T.43
more..
-
58
-
-
56749154242
-
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
-
Brunetti-Pierri, N., Berg, J.S., Scaglia, F., Belmont, J., Bacino, C.A., Sahoo, T., Lalani, S.R., Graham, B., Lee, B., Shinawi, M., Shen, J., Kang, S.H., Pursley, A., Lotze, T., Kennedy, G., Lansky-Shafer, S., Weaver, C., Roeder, E.R., Grebe, T.A., Arnold, G.L., Hutchison, T., Reimschisel, T., Amato, S., Geragthy, M.T., Innis, J.W., Obersztyn, E., Nowakowska, B., Rosengren, S.S., Bader, P.I., Grange, D.K., Naqvi, S., Garnica, A.D., Bernes, S.M., Fong, C.T., Summers, A., Walters, W.D., Lupski, J.R., Stankiewicz, P., Cheung, S.W., Patel, A. (2008) Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet 40, 1466-71.
-
(2008)
Nat Genet
, vol.40
, pp. 1466-71
-
-
Brunetti-Pierri, N.1
Berg, J.S.2
Scaglia, F.3
Belmont, J.4
Bacino, C.A.5
Sahoo, T.6
Lalani, S.R.7
Graham, B.8
Lee, B.9
Shinawi, M.10
Shen, J.11
Kang, S.H.12
Pursley, A.13
Lotze, T.14
Kennedy, G.15
Lansky-Shafer, S.16
Weaver, C.17
Roeder, E.R.18
Grebe, T.A.19
Arnold, G.L.20
Hutchison, T.21
Reimschisel, T.22
Amato, S.23
Geragthy, M.T.24
Innis, J.W.25
Obersztyn, E.26
Nowakowska, B.27
Rosengren, S.S.28
Bader, P.I.29
Grange, D.K.30
Naqvi, S.31
Garnica, A.D.32
Bernes, S.M.33
Fong, C.T.34
Summers, A.35
Walters, W.D.36
Lupski, J.R.37
Stankiewicz, P.38
Cheung, S.W.39
Patel, A.40
more..
-
59
-
-
54049094444
-
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes
-
Mefford, H.C., Sharp, A.J., Baker, C., Itsara, A., Jiang, Z., Buysse, K., Huang, S., Maloney, V.K., Crolla, J.A., Baralle, D., Collins, A., Mercer, C., Norga, K., de Ravel, T., Devriendt, K., Bongers, E.M., de Leeuw, N., Reardon, W., Gimelli, S., Bena, F., Hennekam, R.C., Male, A., Gaunt, L., Clayton-Smith, J., Simonic, I., Park, S.M., Mehta, S.G., Nik-Zainal, S., Woods, C.G., Firth, H.V., Parkin, G., Fichera, M., Reitano, S., Lo Giudice, M., Li, K.E., Casuga, I., Broomer, A., Conrad, B., Schwerzmann, M., Räber, L., Gallati, S., Striano, P., Coppola, A., Tolmie, J.L., Tobias, E.S., Lilley, C., Armengol, L., Spysschaert, Y., Verloo, P., De Coene, A., Goossens, L., Mortier, G., Speleman, F., van Binsbergen, E., Nelen, M.R., Hochstenbach, R., Poot, M., Gallagher, L., Gill, M., McClellan, J., King, M.C., Regan, R., Skinner, C., Stevenson, R.E., Antonarakis, S.E., Chen, C., Estivill, X., Menten, B., Gimelli, G., Gribble, S., Schwartz, S., Sutcliffe, J.S., Walsh, T., Knight, S.J., Sebat, J., Romano, C., Schwartz, C.E., Veltman, J.A., de Vries, B.B., Vermeesch, J.R., Barber, J.C., Willatt, L., Tassabehji, M., Eichler, E.E. (2008) Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med 359, 1685-99.
-
(2008)
N Engl J Med
, vol.359
, pp. 1685-99
-
-
Mefford, H.C.1
Sharp, A.J.2
Baker, C.3
Itsara, A.4
Jiang, Z.5
Buysse, K.6
Huang, S.7
Maloney, V.K.8
Crolla, J.A.9
Baralle, D.10
Collins, A.11
Mercer, C.12
Norga, K.13
De Ravel, T.14
Devriendt, K.15
Bongers, E.M.16
De Leeuw, N.17
Reardon, W.18
Gimelli, S.19
Bena, F.20
Hennekam, R.C.21
Male, A.22
Gaunt, L.23
Clayton-Smith, J.24
Simonic, I.25
Park, S.M.26
Mehta, S.G.27
Nik-Zainal, S.28
Woods, C.G.29
Firth, H.V.30
Parkin, G.31
Fichera, M.32
Reitano, S.33
Lo Giudice, M.34
Li, K.E.35
Casuga, I.36
Broomer, A.37
Conrad, B.38
Schwerzmann, M.39
Räber, L.40
Gallati, S.41
Striano, P.42
Coppola, A.43
Tolmie, J.L.44
Tobias, E.S.45
Lilley, C.46
Armengol, L.47
Spysschaert, Y.48
Verloo, P.49
De Coene, A.50
Goossens, L.51
Mortier, G.52
Speleman, F.53
Van Binsbergen, E.54
Nelen, M.R.55
Hochstenbach, R.56
Poot, M.57
Gallagher, L.58
Gill, M.59
McClellan, J.60
King, M.C.61
Regan, R.62
Skinner, C.63
Stevenson, R.E.64
Antonarakis, S.E.65
Chen, C.66
Estivill, X.67
Menten, B.68
Gimelli, G.69
Gribble, S.70
Schwartz, S.71
Sutcliffe, J.S.72
Walsh, T.73
Knight, S.J.74
Sebat, J.75
Romano, C.76
Schwartz, C.E.77
Veltman, J.A.78
De Vries, B.B.79
Vermeesch, J.R.80
Barber, J.C.81
Willatt, L.82
Tassabehji, M.83
Eichler, E.E.84
more..
-
60
-
-
49949085933
-
Large recurrent microdeletions associated with schizophrenia
-
Stefansson, H., Rujescu, D., Cichon, S., Pietiläinen, O.P., Ingason, A., Steinberg, S., Fossdal, R., Sigurdsson, E., Sigmundsson, T., Buizer-Voskamp, J.E., Hansen, T., Jakobsen, K.D., Muglia, P., Francks, C., Matthews, P.M., Gylfason, A., Halldorsson, B.V., Gudbjartsson, D., Thorgeirsson, T.E., Sigurdsson, A., Jonasdottir, A., Jonasdottir, A., Bjornsson, A., Mattiasdottir, S., Blondal, T., Haraldsson, M., Magnusdottir, B.B., Giegling, I., Möller, H.J., Hartmann, A., Shianna, K.V., Ge, D., Need, A.C., Crombie, C., Fraser, G., Walker, N., Lonnqvist J., Suvisaari, J., Tuulio-Henriksson, A., Paunio, T., Toulopoulou, T., Bramon, E., Di Forti, M., Murray, R., Ruggeri, M., Vassos, E., Tosato, S., Walshe, M., Li, T., Vasilescu, C., Mühleisen, T.W., Wang, A.G., Ullum, H., Djurovic, S., Melle, I., Olesen, J., Kiemeney, L.A., Franke, B., GROUP., Sabatti, C., Freimer, N.B., Gulcher, J.R., Thorsteinsdottir, U., Kong, A., Andreassen, O.A., Ophoff, R.A., Georgi, A., Rietschel, M., Werge, T., Petursson, H., Goldstein, D.B., Nöthen, M.M., Peltonen, L., Collier, D.A., St Clair, D., Stefansson, K. (2008) Large recurrent microdeletions associated with schizophrenia. Nature 455, 232-6.
-
(2008)
Nature
, vol.455
, pp. 232-6
-
-
Stefansson, H.1
Rujescu, D.2
Cichon, S.3
Pietiläinen, O.P.4
Ingason, A.5
Steinberg, S.6
Fossdal, R.7
Sigurdsson, E.8
Sigmundsson, T.9
Buizer-Voskamp, J.E.10
Hansen, T.11
Jakobsen, K.D.12
Muglia, P.13
Francks, C.14
Matthews, P.M.15
Gylfason, A.16
Halldorsson, B.V.17
Gudbjartsson, D.18
Thorgeirsson, T.E.19
Sigurdsson, A.20
Jonasdottir, A.21
Jonasdottir, A.22
Bjornsson, A.23
Mattiasdottir, S.24
Blondal, T.25
Haraldsson, M.26
Magnusdottir, B.B.27
Giegling, I.28
Möller, H.J.29
Hartmann, A.30
Shianna, K.V.31
Ge, D.32
Need, A.C.33
Crombie, C.34
Fraser, G.35
Walker, N.36
Lonnqvist, J.37
Suvisaari, J.38
Tuulio-Henriksson, A.39
Paunio, T.40
Toulopoulou, T.41
Bramon, E.42
Di Forti, M.43
Murray, R.44
Ruggeri, M.45
Vassos, E.46
Tosato, S.47
Walshe, M.48
Li, T.49
Vasilescu, C.50
Mühleisen, T.W.51
Wang, A.G.52
Ullum, H.53
Djurovic, S.54
Melle, I.55
Olesen, J.56
Kiemeney, L.A.57
more..
-
61
-
-
39749154724
-
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures
-
DOI 10.1038/ng.93, PII NG93
-
Sharp, A.J., Mefford, H.C., Li, K., Baker, C., Skinner, C., Stevenson, R.E., Schroer, R.J., Novara, F., De Gregori, M., Ciccone, R., Broomer, A., Casuga, I., Wang, Y., Xiao, C., Barbacioru, C., Gimelli, G., Bernardina, B.D., Torniero, C., Giorda, R., Regan, R., Murday, V., Mansour, S., Fichera, M., Castiglia, L., Failla, P., Ventura, M., Jiang, Z., Cooper, G.M., Knight, S.J., Romano, C., Zuffardi, O., Chen, C., Schwartz, C.E., Eichler, E.E. (2008) A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat Genet 40, 322-8. (Pubitemid 351311774)
-
(2008)
Nature Genetics
, vol.40
, Issue.3
, pp. 322-328
-
-
Sharp, A.J.1
Mefford, H.C.2
Li, K.3
Baker, C.4
Skinner, C.5
Stevenson, R.E.6
Schroer, R.J.7
Novara, F.8
De Gregori, M.9
Ciccone, R.10
Broomer, A.11
Casuga, I.12
Wang, Y.13
Xiao, C.14
Barbacioru, C.15
Gimelli, G.16
Bernardina, B.D.17
Torniero, C.18
Giorda, R.19
Regan, R.20
Murday, V.21
Mansour, S.22
Fichera, M.23
Castiglia, L.24
Failla, P.25
Ventura, M.26
Jiang, Z.27
Cooper, G.M.28
Knight, S.J.L.29
Romano, C.30
Zuffardi, O.31
Chen, C.32
Schwartz, C.E.33
Eichler, E.E.34
more..
-
62
-
-
67449114040
-
Microdeletion 15q13.3: A locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders
-
Ben-Shachar, S., Lanpher, B., German, J.R., Qasaymeh, M., Potocki, L., Nagamani, S.C., Franco, L.M., Malphrus, A., Bottenfi eld, G.W,, Spence, J.E., Amato, S., Rousseau, J.A., Moghaddam, B., Skinner, C., Skinner, S.A., Bernes, S., Armstrong, N., Shinawi, M., Stankiewicz, P., Patel, A., Cheung, S.W., Lupski, J.R., Beaudet, A.L., Sahoo, T. (2009) Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders. J Med Genet 46, 382-8.
-
(2009)
J Med Genet
, vol.46
, pp. 382-8
-
-
Ben-Shachar, S.1
Lanpher, B.2
German, J.R.3
Qasaymeh, M.4
Potocki, L.5
Nagamani, S.C.6
Franco, L.M.7
Malphrus, A.8
Bottenfield Spence, G.W.9
Spence, J.E.10
Amato, S.11
Rousseau, J.A.12
Moghaddam, B.13
Skinner, C.14
Skinner, S.A.15
Bernes, S.16
Armstrong, N.17
Shinawi, M.18
Stankiewicz, P.19
Patel, A.20
Cheung, S.W.21
Lupski, J.R.22
Beaudet, A.L.23
Sahoo, T.24
more..
-
63
-
-
68049129849
-
Further delineation of the 15q13 microdeletion and duplication syndromes: A clinical spectrum varying from nonpathogenic to a severe outcome
-
van Bon, B.W., Mefford, H.C., Menten, B., Koolen, D.A., Sharp, A.J., Nillesen, W.M., Innis, J.W., de Ravel, T.J., Mercer, C.L., Fichera, M., Stewart, H., Connell, L.E., Ounap, K., Lachlan, K., Castle, B., Van der Aa, N., van Ravenswaaij, C., Nobrega, M.A., Serra-Juhé, C., Simonic, I., de Leeuw, N., Pfundt, R., Bongers, E.M., Baker, C., Finnemore, P., Huang, S., Maloney, V.K., Crolla, J.A., van Kalmthout, M., Elia, M., Vandeweyer, G., Fryns, J.P., Janssens, S., Foulds, N., Reitano, S., Smith, K., Parkel, S., Loeys, B., Woods, C.G., Oostra, A., Speleman, F., Pereira, A.C., Kurg, A., Willatt, L., Knight, S.J., Vermeesch, J.R., Romano, C., Barber, J.C., Mortier, G., Pérez-Jurado, L.A., Kooy, F., Brunner, H.G., Eichler, E.E., Kleefstra, T., de Vries, B.B. (2009) Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from nonpathogenic to a severe outcome. J Med Genet 46, 511-23.
-
(2009)
J Med Genet
, vol.46
, pp. 511-23
-
-
Van Bon, B.W.1
Mefford, H.C.2
Menten, B.3
Koolen, D.A.4
Sharp, A.J.5
Nillesen, W.M.6
Innis, J.W.7
De Ravel, T.J.8
Mercer, C.L.9
Fichera, M.10
Stewart, H.11
Connell, L.E.12
Ounap, K.13
Lachlan, K.14
Castle, B.15
Van Der Aa, N.16
Van Ravenswaaij, C.17
Nobrega, M.A.18
Serra-Juhé, C.19
Simonic, I.20
De Leeuw, N.21
Pfundt, R.22
Bongers, E.M.23
Baker, C.24
Finnemore, P.25
Huang, S.26
Maloney, V.K.27
Crolla, J.A.28
Van Kalmthout, M.29
Elia, M.30
Vandeweyer, G.31
Fryns, J.P.32
Janssens, S.33
Foulds, N.34
Reitano, S.35
Smith, K.36
Parkel, S.37
Loeys, B.38
Woods, C.G.39
Oostra, A.40
Speleman, F.41
Pereira, A.C.42
Kurg, A.43
Willatt, L.44
Knight, S.J.45
Vermeesch, J.R.46
Romano, C.47
Barber, J.C.48
Mortier, G.49
Pérez-Jurado, L.A.50
Kooy, F.51
Brunner, H.G.52
Eichler, E.E.53
Kleefstra, T.54
De Vries, B.B.55
more..
-
64
-
-
65949085347
-
Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders
-
Miller, D.T., Shen, Y., Weiss, L.A., Korn, J., Anselm, I., Bridgemohan, C., Cox, G.F., Dickinson, H., Gentile, J., Harris, D.J., Hegde, V., Hundley, R., Khwaja, O., Kothare, S., Luedke, C., Nasir, R., Poduri, A., Prasad, K., Raffalli, P., Reinhard, A., Smith, S.E., Sobeih, M.M., Soul, J.S., Stoler, J., Takeoka, M., Tan, W.H., Thakuria, J., Wolff, R., Yusupov, R., Gusella, J.F., Daly, M.J., Wu, B.L. (2009) Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. J Med Genet 46, 242-8.
-
(2009)
J Med Genet
, vol.46
, pp. 242-8
-
-
Miller, D.T.1
Shen, Y.2
Weiss, L.A.3
Korn, J.4
Anselm, I.5
Bridgemohan, C.6
Cox, G.F.7
Dickinson, H.8
Gentile, J.9
Harris, D.J.10
Hegde, V.11
Hundley, R.12
Khwaja, O.13
Kothare, S.14
Luedke, C.15
Nasir, R.16
Poduri, A.17
Prasad, K.18
Raffalli, P.19
Reinhard, A.20
Smith, S.E.21
Sobeih, M.M.22
Soul, J.S.23
Stoler, J.24
Takeoka, M.25
Tan, W.H.26
Thakuria, J.27
Wolff, R.28
Yusupov, R.29
Gusella, J.F.30
Daly, M.J.31
Wu, B.L.32
more..
-
65
-
-
38849126088
-
Recurrent 16p11.2 microdeletions in autism
-
DOI 10.1093/hmg/ddm376
-
Kumar, R.A., KaraMohamed, S., Sudi, J., Conrad, D.F., Brune, C., Badner, J.A., Gilliam, T.C., Nowak, N.J., Cook, E.H. Jr., Dobyns, W.B., Christian, S.L. (2008) Recurrent 16p11.2 microdeletions in autism. Hum Mol Genet 17, 628-38. (Pubitemid 351201774)
-
(2008)
Human Molecular Genetics
, vol.17
, Issue.4
, pp. 628-638
-
-
Kumar, R.A.1
Karamohamed, S.2
Sudi, J.3
Conrad, D.F.4
Brune, C.5
Badner, J.A.6
Gilliam, T.C.7
Nowak, N.J.8
Cook Jr., E.H.9
Dobyns, W.B.10
Christian, S.L.11
-
66
-
-
39049163023
-
Association between microdeletion and microduplication at 16p11.2 and autism
-
DOI 10.1056/NEJMoa075974
-
Weiss, L.A., Shen, Y., Korn, J.M., Arking, D.E., Miller, D.T., Fossdal, R., Saemundsen, E., Stefansson, H., Ferreira, M.A., Green, T., Platt, O.S., Ruderfer, D.M., Walsh, C.A., Altshuler, D., Chakravarti, A., Tanzi, R.E., Stefansson, K., Santangelo, S.L., Gusella, J.F., Sklar, P., Wu, B.L., Daly, M.J. (2008) Autism Consortium. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med 358, 667-75. (Pubitemid 351240746)
-
(2008)
New England Journal of Medicine
, vol.358
, Issue.7
, pp. 667-675
-
-
Weiss, L.A.1
Shen, Y.2
Korn, J.M.3
Arking, D.E.4
Miller, D.T.5
Fossdal, R.6
Saemundsen, E.7
Stefansson, H.8
Ferreira, M.A.R.9
Green, T.10
Platt, O.S.11
Ruderfer, D.M.12
Walsh, C.A.13
Altshuler, D.14
Chakravarti, A.15
Tanzi, R.E.16
Stefansson, K.17
Santangelo, S.L.18
Gusella, J.F.19
Sklar, P.20
Wu, B.-L.21
Daly, M.J.22
more..
-
67
-
-
70350626873
-
Microduplications of 16p11.2 are associated with schizophrenia
-
McCarthy, S.E., Makarov, V., Kirov, G., Addington, A.M., McClellan, J., Yoon, S., Perkins, D.O., Dickel, D.E., Kusenda, M., Krastoshevsky, O., Krause, V., Kumar, R.A., Grozeva, D., Malhotra, D., Walsh, T., Zackai, E.H., Kaplan, P., Ganesh, J., Krantz, I.D., Spinner, N.B., Roccanova, P., Bhandari, A., Pavon, K., Lakshmi, B., Leotta, A., Kendall, J., Lee, Y.H., Vacic, V., Gary, S., Iakoucheva, L.M., Crow, T.J., Christian, S.L., Lieberman, J.A., Stroup, T.S., Lehtimäki, T., Puura, K., Haldeman-Englert, C., Pearl, J., Goodell, M., Willour, V.L., Derosse, P., Steele, J., Kassem, L., Wolff, J., Chitkara, N., McMahon, F.J., Malhotra, A.K., Potash, J.B., Schulze, T.G., Nöthen, M.M., Cichon, S., Rietschel, M., Leibenluft, E., Kustanovich, V., Lajonchere, C.M., Sutcliffe, J.S., Skuse, D., Gill, M., Gallagher, L., Mendell, N.R., Wellcome Trust Case Control Consortium., Craddock, N., Owen, M.J., ODonovan, M.C., Shaikh, T.H., Susser, E., Delisi, L.E., Sullivan, P.F., Deutsch, C.K., Rapoport, J., Levy, D.L., King, M.C., Sebat, J. (2009) Microduplications of 16p11.2 are associated with schizophrenia. Nat Genet 41, 1223-7.
-
(2009)
Nat Genet
, vol.41
, pp. 1223-7
-
-
McCarthy, S.E.1
Makarov, V.2
Kirov, G.3
Addington, A.M.4
McClellan, J.5
Yoon, S.6
Perkins, D.O.7
Dickel, D.E.8
Kusenda, M.9
Krastoshevsky, O.10
Krause, V.11
Kumar, R.A.12
Grozeva, D.13
Malhotra, D.14
Walsh, T.15
Zackai, E.H.16
Kaplan, P.17
Ganesh, J.18
Krantz, I.D.19
Spinner, N.B.20
Roccanova, P.21
Bhandari, A.22
Pavon, K.23
Lakshmi, B.24
Leotta, A.25
Kendall, J.26
Lee, Y.H.27
Vacic, V.28
Gary, S.29
Iakoucheva, L.M.30
Crow, T.J.31
Christian, S.L.32
Lieberman, J.A.33
Stroup, T.S.34
Lehtimäki, T.35
Puura, K.36
Haldeman-Englert, C.37
Pearl, J.38
Goodell, M.39
Willour, V.L.40
Derosse, P.41
Steele, J.42
Kassem, L.43
Wolff, J.44
Chitkara, N.45
McMahon, F.J.46
Malhotra, A.K.47
Potash, J.B.48
Schulze, T.G.49
Nöthen, M.M.50
Cichon, S.51
Rietschel, M.52
Leibenluft, E.53
Kustanovich, V.54
Lajonchere, C.M.55
Sutcliffe, J.S.56
Skuse, D.57
Gill, M.58
Gallagher, L.59
Mendell, N.R.60
Craddock, N.61
Owen, M.J.62
Odonovan, M.C.63
Shaikh, T.H.64
Susser, E.65
Delisi, L.E.66
Sullivan, P.F.67
Deutsch, C.K.68
Rapoport, J.69
Levy, D.L.70
King, M.C.71
Sebat, J.72
more..
-
68
-
-
77953704493
-
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioral problems, dysmorphism, epilepsy, and abnormal head size
-
Shinawi, M., Liu, P., Kang, S.H., Shen, J., Belmont, J.W., Scott, D.A., Probst, F.J., Craigen, W.J., Graham, B., Pursley, A., Clark, G., Lee, J., Proud, M., Stocco, A., Rodriguez, D., Kozel, B., Sparagana, S., Roeder, E., McGrew, S., Kurczynski, T., Allison, L., Amato, S., Savage, S., Patel, A., Stankiewicz, P., Beaudet, A., Cheung, S.W., Lupski, J.R. (2010) Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioral problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet 47, 332-41.
-
(2010)
J Med Genet
, vol.47
, pp. 332-41
-
-
Shinawi, M.1
Liu, P.2
Kang, S.H.3
Shen, J.4
Belmont, J.W.5
Scott, D.A.6
Probst, F.J.7
Craigen, W.J.8
Graham, B.9
Pursley, A.10
Clark, G.11
Lee, J.12
Proud, M.13
Stocco, A.14
Rodriguez, D.15
Kozel, B.16
Sparagana, S.17
Roeder, E.18
McGrew, S.19
Kurczynski, T.20
Allison, L.21
Amato, S.22
Savage, S.23
Patel, A.24
Stankiewicz, P.25
Beaudet, A.26
Cheung, S.W.27
Lupski, J.R.28
more..
-
69
-
-
70350336003
-
Genomic sister-disorders of neurodevelopment: An evolutionary approach
-
Crespi, B., Summers, K., Dorus, S. (2009) Genomic sister-disorders of neurodevelopment: an evolutionary approach. Evolutionary Applications 2, 81-100.
-
(2009)
Evolutionary Applications
, vol.2
, pp. 81-100
-
-
Crespi, B.1
Summers, K.2
Dorus, S.3
-
70
-
-
76549129054
-
Evolution in health and medicine sackler colloquium: Comparative genomics of autism and schizophrenia
-
Crespi, B., Stead, P., Elliot, M. (2010) Evolution in health and medicine sackler colloquium: comparative genomics of autism and schizophrenia. Proc Natl Acad Sci USA 107, Suppl: 1736-41.
-
(2010)
Proc Natl Acad Sci USA
, vol.107
, Issue.SUPPL.
, pp. 1736-1741
-
-
Crespi, B.1
Stead, P.2
Elliot, M.3
-
71
-
-
29444442794
-
APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy
-
DOI 10.1038/ng1718
-
Rovelet-Lecrux, A., Hannequin, D., Raux, G., Le Meur, N., Laquerrire, A., Vital, A., Dumanchin, C., Feuillette, S., Brice, A., Vercelletto, M., Dubas, F., Frebourg, T., Campion, D. (2006) APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. Nat Genet 38, 24-6. (Pubitemid 43011878)
-
(2006)
Nature Genetics
, vol.38
, Issue.1
, pp. 24-26
-
-
Rovelet-Lecrux, A.1
Hannequin, D.2
Raux, G.3
Le Meur, N.4
Laquerriere, A.5
Vital, A.6
Dumanchin, C.7
Feuillette, S.8
Brice, A.9
Vercelletto, M.10
Dubas, F.11
Frebourg, T.12
Campion, D.13
-
72
-
-
0242300619
-
α-Synuclein Locus Triplication Causes Parkinson's Disease
-
DOI 10.1126/science.1090278
-
Singleton, A.B., Farrer, M., Johnson, J., Singleton, A., Hague, S., Kachergus, J., Hulihan, M., Peuralinna, T., Dutra, A., Nussbaum, R., Lincoln, S., Crawley, A., Hanson, M., Maraganore, D., Adler, C., Cookson, M.R., Muenter, M., Baptista, M., Miller, D., Blancato, J., Hardy, J., Gwinn-Hardy, K. (2003) Alphasynuclein locus triplication causes Parkinsons disease. Science 302, 841. (Pubitemid 37339619)
-
(2003)
Science
, vol.302
, Issue.5646
, pp. 841
-
-
Singleton, A.B.1
Farrer, M.2
Johnson, J.3
Singleton, A.4
Hague, S.5
Kachergus, J.6
Hulihan, M.7
Peuralinna, T.8
Dutra, A.9
Nussbaum, R.10
Lincoln, S.11
Crawley, A.12
Hanson, M.13
Maraganore, D.14
Adler, C.15
Cookson, M.R.16
Muenter, M.17
Baptista, M.18
Miller, D.19
Blancato, J.20
Hardy, J.21
Gwinn-Hardy, K.22
more..
-
73
-
-
4644290985
-
α-synuclein locus duplication as a cause of familial Parkinson's disease
-
DOI 10.1016/S0140-6736(04)17103-1, PII S0140673604171031
-
Chartier-Harlin, M.C., Kachergus, J., Roumier, C., Mouroux, V., Douay, X., Lincoln, S., Levecque, C., Larvor, L., Andrieux, J., Hulihan, M., Waucquier, N., Defebvre, L., Amouyel, P., Farrer, M., Destée, A. (2004) Alpha-synuclein locus duplication as a cause of familial Parkinsons disease. Lancet 364, 1167-9. (Pubitemid 39296604)
-
(2004)
Lancet
, vol.364
, Issue.9440
, pp. 1167-1169
-
-
Chartier-Harlin, M.-C.1
Kachergus, J.2
Roumier, C.3
Mouroux, V.4
Douay, X.5
Lincoln, S.6
Levecque, C.7
Larvor, L.8
Andrieux, J.9
Hulihan, M.10
Waucquier, N.11
Defebvre, L.12
Amouyel, P.13
Farrer, M.14
Destee, A.15
-
74
-
-
4644236043
-
Causal relation between α-synuclein gene duplication and familial Parkinson's disease
-
DOI 10.1016/S0140-6736(04)17104-3, PII S0140673604171043
-
Ibáñez, P., Bonnet, A.M., Debarges, B., Lohmann, E., Tison, F., Pollak, P., Agid, Y., Dürr, A., Brice, A. (2004) Causal relation between alpha-synuclein gene duplication and familial Parkinsons disease. Lancet 364, 1169-71. (Pubitemid 39296605)
-
(2004)
Lancet
, vol.364
, Issue.9440
, pp. 1169-1171
-
-
Ibanez, P.1
Bonnet, A.-M.2
Debarges, B.3
Lohmann, E.4
Tison, F.5
Pollak, P.6
Agid, Y.7
Durr, A.8
Brice, P.A.9
-
75
-
-
33751546259
-
Hereditary pancreatitis caused by triplication of the trypsinogen locus
-
DOI 10.1038/ng1904, PII NG1904
-
Le Maréchal, C., Masson, E., Chen, J.M., Morel, F., Ruszniewski, P., Levy, P., Férec, C. (2006) Hereditary pancreatitis caused by triplication of the trypsinogen locus. Nat Genet 38, 1372-4. (Pubitemid 44837557)
-
(2006)
Nature Genetics
, vol.38
, Issue.12
, pp. 1372-1374
-
-
Le Marechal, C.1
Masson, E.2
Chen, J.-M.3
Morel, F.4
Ruszniewski, P.5
Levy, P.6
Ferec, C.7
-
76
-
-
33748558056
-
A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon
-
DOI 10.1086/505915
-
Fellermann, K., Stange, D.E., Schaeffeler, E., Schmalzl, H., Wehkamp, J., Bevins, C.L., Reinisch, W., Teml, A., Schwab, M., Lichter, P., Radlwimmer, B., Stange, E.F. (2006) A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copynumber predisposes to Crohn disease of the colon. Am J Hum Genet 79, 439-48. (Pubitemid 44384253)
-
(2006)
American Journal of Human Genetics
, vol.79
, Issue.3
, pp. 439-448
-
-
Fellermann, K.1
Stange, D.E.2
Schaeffeler, E.3
Schmalzl, H.4
Wehkamp, J.5
Bevins, C.L.6
Reinisch, W.7
Teml, A.8
Schwab, M.9
Lichter, P.10
Radlwimmer, B.11
Stange, E.F.12
-
77
-
-
50449091647
-
Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohns disease
-
McCarroll, S.A., Huett, A., Kuballa, P., Chilewski, S.D., Landry, A., Goyette, P., Zody, M.C., Hall, J.L., Brant, S.R., Cho, J.H., Duerr, R.H., Silverberg, M.S., Taylor, K.D., Rioux, J.D., Altshuler, D., Daly, M.J., Xavier, R.J. (2008) Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohns disease. Nat Genet 40, 1107-12.
-
(2008)
Nat Genet
, vol.40
, pp. 1107-12
-
-
McCarroll, S.A.1
Huett, A.2
Kuballa, P.3
Chilewski, S.D.4
Landry, A.5
Goyette, P.6
Zody, M.C.7
Hall, J.L.8
Brant, S.R.9
Cho, J.H.10
Duerr, R.H.11
Silverberg, M.S.12
Taylor, K.D.13
Rioux, J.D.14
Altshuler, D.15
Daly, M.J.16
Xavier, R.J.17
-
78
-
-
32844460938
-
Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans
-
DOI 10.1038/nature04489, PII NATURE04489
-
Aitman, T.J., Dong, R., Vyse, T.J., Norsworthy, P.J., Johnson, M.D., Smith, J., Mangion, J., Roberton-Lowe, C., Marshall, A.J., Petretto, E., Hodges, M.D., Bhangal, G., Patel, S.G., Sheehan-Rooney, K., Duda, M., Cook, P.R., Evans, D.J., Domin, J., Flint, J., Boyle, J.J., Pusey, C.D., Cook, H.T. (2006) Copynumber polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans. Nature 439, 851-5. (Pubitemid 43255703)
-
(2006)
Nature
, vol.439
, Issue.7078
, pp. 851-855
-
-
Aitman, T.J.1
Dong, R.2
Vyse, T.J.3
Norsworthy, P.J.4
Johnson, M.D.5
Smith, J.6
Mangion, J.7
Roberton-Lowe, C.8
Marshall, A.J.9
Petretto, E.10
Hodges, M.D.11
Bhangal, G.12
Patel, S.G.13
Sheehan-Rooney, K.14
Duda, M.15
Cook, P.R.16
Evans, D.J.17
Domin, J.18
Flint, J.19
Boyle, J.J.20
Pusey, C.D.21
Cook, H.T.22
more..
-
79
-
-
37549033125
-
Psoriasis is associated with increased beta-defensin genomic copynumber
-
Hollox, E.J., Huffmeier, U., Zeeuwen, P.L., Palla, R., Lascorz, J., Rodijk-Olthuis, D., van de Kerkhof, P.C., Traupe, H., de Jongh, G., den Heijer, M., Reis, A., Armour, J.A., Schalkwijk, J. (2008) Psoriasis is associated with increased beta-defensin genomic copynumber. Nat Genet 40, 23-5.
-
(2008)
Nat Genet
, vol.40
, pp. 23-5
-
-
Hollox, E.J.1
Huffmeier, U.2
Zeeuwen, P.L.3
Palla, R.4
Lascorz, J.5
Rodijk-Olthuis, D.6
Van De Kerkhof, P.C.7
Traupe, H.8
De Jongh, G.9
Den Heijer, M.10
Reis, A.11
Armour, J.A.12
Schalkwijk, J.13
-
80
-
-
46949096094
-
Copy number of FCGR3B, which is associated with systemic lupus erythematosus, correlates with protein expression and immune complex uptake
-
DOI 10.1084/jem.20072413
-
Willcocks, L.C., Lyons, P.A., Clatworthy, M.R., Robinson, J.I., Yang, W., Newland, S.A., Plagnol, V., McGovern, N.N., Condliffe, A.M., Chilvers, E.R., Adu, D., Jolly, E.C., Watts, R., Lau, Y.L., Morgan, A.W., Nash, G., Smith, K.G. (2008) Copy-number of FCGR3B, which is associated with systemic lupus erythematosus, correlates with protein expression and immune complex uptake. J Exp Med 205, 1573-82. (Pubitemid 351962021)
-
(2008)
Journal of Experimental Medicine
, vol.205
, Issue.7
, pp. 1573-1582
-
-
Willcocks, L.C.1
Lyons, P.A.2
Clatworthy, M.R.3
Robinson, J.I.4
Yang, W.5
Newland, S.A.6
Plagnol, V.7
McGovern, N.N.8
Condliffe, A.M.9
Chilvers, E.R.10
Adu, D.11
Jolly, E.C.12
Watts, R.13
Lau, Y.L.14
Morgan, A.W.15
Nash, G.16
Smith, K.G.C.17
-
81
-
-
0027366552
-
Inherited primary peripheral neuropathies: Molecular genetics and clinical implications of CMT1A and HNPP
-
DOI 10.1001/jama.270.19.2326
-
Lupski, J.R., Chance, P.F., Garcia, C.A. (1993) Inherited primary peripheral neuropathies. Molecular genetics and clinical implications of CMT1A and HNPP. JAMA 270, 2326-30. (Pubitemid 23335324)
-
(1993)
Journal of the American Medical Association
, vol.270
, Issue.19
, pp. 2326-2330
-
-
Lupski, J.R.1
Chance, P.F.2
Garcia, C.A.3
-
82
-
-
34547664096
-
Genomic disorder mechanisms elucidated by breakpoint analysis of 17p rearrangements
-
Lupski, J.R., Stankiewicz, P. (2005) Genomic disorder mechanisms elucidated by breakpoint analysis of 17p rearrangements. PLoS Genet 1, e49.
-
(2005)
PLoS Genet
, vol.1
-
-
Lupski, J.R.1
Stankiewicz, P.2
-
83
-
-
60549106509
-
Disruption of the neurexin 1 gene is associated with schizophrenia
-
Rujescu, D., Ingason, A., Cichon, S., Pietiläinen, O.P., Barnes, M.R., Toulopoulou, T., Picchioni, M., Vassos, E., Ettinger, U., Bramon, E., Murray, R., Ruggeri, M., Tosato, S., Bonetto, C., Steinberg, S., Sigurdsson, E., Sigmundsson, T., Petursson, H., Gylfason, A., Olason, P.I., Hardarsson, G., Jonsdottir, G.A., Gustafsson, O., Fossdal, R., Giegling, I., Möller, H.J., Hartmann, A.M., Hoffmann, P., Crombie, C., Fraser, G., Walker, N., Lonnqvist, J., Suvisaari, J., Tuulio-Henriksson, A., Djurovic, S., Melle, I., Andreassen, O.A., Hansen, T., Werge, T., Kiemeney, L.A., Franke, B., Veltman, J., Buizer-Voskamp, J.E., GROUP Investigators., Sabatti, C., Ophoff, R.A., Rietschel, M., Nöthen, M.M., Stefansson, K., Peltonen, L., St Clair, D., Stefansson, H., Collier, D.A. (2009) Disruption of the neurexin 1 gene is associated with schizophrenia. Hum Mol Genet 18, 988-96.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 988-96
-
-
Rujescu, D.1
Ingason, A.2
Cichon, S.3
Pietiläinen, O.P.4
Barnes, M.R.5
Toulopoulou, T.6
Picchioni, M.7
Vassos, E.8
Ettinger, U.9
Bramon, E.10
Murray, R.11
Ruggeri, M.12
Tosato, S.13
Bonetto, C.14
Steinberg, S.15
Sigurdsson, E.16
Sigmundsson, T.17
Petursson, H.18
Gylfason, A.19
Olason, P.I.20
Hardarsson, G.21
Jonsdottir, G.A.22
Gustafsson, O.23
Fossdal, R.24
Giegling, I.25
Möller, H.J.26
Hartmann, A.M.27
Hoffmann, P.28
Crombie, C.29
Fraser, G.30
Walker, N.31
Lonnqvist, J.32
Suvisaari, J.33
Tuulio-Henriksson, A.34
Djurovic, S.35
Melle, I.36
Andreassen, O.A.37
Hansen, T.38
Werge, T.39
Kiemeney, L.A.40
Franke, B.41
Veltman, J.42
Buizer-Voskamp, J.E.43
Group, Investigators.44
Sabatti, C.45
Ophoff, R.A.46
Rietschel, M.47
Nöthen, M.M.48
Stefansson, K.49
Peltonen, L.50
St Clair, D.51
Stefansson, H.52
Collier, D.A.53
more..
-
84
-
-
0026580019
-
A chimaeric 11-beta-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension
-
Lifton, R.P., Dluhy, R.G., Powers, M., Rich, G.M., Cook, S., Ulick, S., Lalouel, J.-M. (1992) A chimaeric 11-beta-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension. Nature 355, 262-5.
-
(1992)
Nature
, vol.355
, pp. 262-5
-
-
Lifton, R.P.1
Dluhy, R.G.2
Powers, M.3
Rich, G.M.4
Cook, S.5
Ulick, S.6
Lalouel, J.-M.7
-
85
-
-
0037188510
-
Disruption of a long-range cis-acting regulator for Shh causes preaxial
-
DOI 10.1073/pnas.112212199
-
Lettice, L.A., Horikoshi, T., Heaney, S.J.H., van Baren, M.J., van der Linde, H.C., Breedveld, G.J., Joosse, M., Akarsu, N., Oostra, B.A., Endo, N., Shibata, M., Suzuki, M., Takahashi, E., Shinka, T., Nakahori, Y., Ayusawa, D., Nakabayashi, K., Scherer, S.W., Heutink, P., Hill, R.E., Noji, S. (2002) Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly. Proc Natl Acad Sci USA 99, 7548-53. (Pubitemid 34568728)
-
(2002)
Proceedings of the National Academy of Sciences of the United States of America
, vol.99
, Issue.11
, pp. 7548-7553
-
-
Lettice, L.A.1
Horikoshi, T.2
Heaney, S.J.H.3
Van Baren, M.J.4
Van Der Linde, H.C.5
Breedveld, G.J.6
Joosse, M.7
Akarsu, N.8
Oostra, B.A.9
Endo, N.10
Shibata, M.11
Suzuki, M.12
Takahashi, E.13
Shinka, T.14
Nakahori, Y.15
Ayusawa, D.16
Nakabayashi, K.17
Scherer, S.W.18
Heutink, P.19
Hill, R.E.20
Noji, S.21
more..
-
86
-
-
15944402131
-
Position effects due to chromosome breakpoints that map 900 Kb upstream and 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia
-
DOI 10.1086/429252
-
Velagaleti, G.V., Bien-Willner, G.A., Northup, J.K., Lockhart, L.H., Hawkins, J.C., Jalal, S.M., Withers, M., Lupski, J.R., Stankiewicz, P. (2005) Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia. Am J Hum Genet 76, 652-62. (Pubitemid 40432172)
-
(2005)
American Journal of Human Genetics
, vol.76
, Issue.4
, pp. 652-662
-
-
Velagaleti, G.V.N.1
Bien-Willner, G.A.2
Northup, J.K.3
Lockhart, L.H.4
Hawkins, J.C.5
Jalal, S.M.6
Withers, M.7
Lupski, J.R.8
Stankiewicz, P.9
-
87
-
-
2342530409
-
Screening of the 1 Mb SOX9 5 control region by arrayCGH identifi es a large deletion in a case of campomelic dysplasia with XY sex reversal
-
Pop, R., Conz, C., Lindenberg, K.S., Blesson, S., Schmalenberger, B., Briault, S., Pfeifer, D., Scherer, G. (2004) Screening of the 1 Mb SOX9 5 control region by arrayCGH identifi es a large deletion in a case of campomelic dysplasia with XY sex reversal. J Med Genet 41, e47.
-
(2004)
J Med Genet
, vol.41
-
-
Pop, R.1
Conz, C.2
Lindenberg, K.S.3
Blesson, S.4
Schmalenberger, B.5
Briault, S.6
Pfeifer, D.7
Scherer, G.8
-
88
-
-
22544447060
-
Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome
-
DOI 10.1086/432083
-
Beysen, D., Raes, J., Leroy, B.P., Lucassen, A., Yates, J.R., Clayton-Smith, J., Ilyina, H., Brooks, S.S., Christin-Maitre, S., Fellous, M., Fryns, J.P., Kim, J.R., Lapunzina, P., Lemyre, E., Meire, F., Messiaen, L.M., Oley, C., Splitt, M., Thomson, J., Van de Peer, Y., Veitia, R.A., De Paepe, A., De Baere, E. (2005) Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome. Am J Hum Genet 77, 205-18. (Pubitemid 41022704)
-
(2005)
American Journal of Human Genetics
, vol.77
, Issue.2
, pp. 205-218
-
-
Beysen, D.1
Raes, J.2
Leroy, B.P.3
Lucassen, A.4
Yates, J.R.W.5
Clayton-Smith, J.6
Ilyina, H.7
Brooks, S.S.8
Christin-Maitre, S.9
Fellous, M.10
Fryns, J.P.11
Kim, J.R.12
Lapunzina, P.13
Lemyre, E.14
Meire, F.15
Messiaen, L.M.16
Oley, C.17
Splitt, M.18
Thomson, J.19
Van De Peer, Y.20
Veitia, R.A.21
De Paepe, A.22
De Baere, E.23
more..
-
89
-
-
11144339384
-
Long-range control of gene expression: Emerging mechanisms and disruption in disease
-
DOI 10.1086/426833
-
Kleinjan, D.A., van Heyningen, V. (2005) Long-Range Control of Gene Expression. Emerging Mechanisms and Disruption in Disease. Am J Hum Genet 76, 8-32. (Pubitemid 40023762)
-
(2005)
American Journal of Human Genetics
, vol.76
, Issue.1
, pp. 8-32
-
-
Kleinjan, D.A.1
Van Heyningen, V.2
-
90
-
-
45249110444
-
A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome
-
DOI 10.1136/jmg.2007.055699
-
Klopocki, E., Ott, C. E., Benatar, N., Ullmann, R., Mundlos, S., Lehmann, L. (2008) A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome. J Med Genet 45, 370-5. (Pubitemid 351839478)
-
(2008)
Journal of Medical Genetics
, vol.45
, Issue.6
, pp. 370-375
-
-
Klopocki, E.1
Ott, C.-E.2
Benatar, N.3
Ullmann, R.4
Mundlos, S.5
Lehmann, K.6
-
91
-
-
64149103056
-
Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2
-
Dathe, K., Kjaer, K.W., Brehm, A., Meinecke, P., Nürnberg, P., Neto, J.C., Brunoni, D., Tommerup, N., Ott, C.E., Klopocki, E., Seemann, P., Mundlos, S. (2009) Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2. Am J Hum Genet 84, 483-92.
-
(2009)
Am J Hum Genet
, vol.84
, pp. 483-92
-
-
Dathe, K.1
Kjaer, K.W.2
Brehm, A.3
Meinecke, P.4
Nürnberg, P.5
Neto, J.C.6
Brunoni, D.7
Tommerup, N.8
Ott, C.E.9
Klopocki, E.10
Seemann, P.11
Mundlos, S.12
-
92
-
-
68149169945
-
Duplications of noncoding elements 5 of SOX9 are associated with brachydactyly-anonychia
-
Kurth, I., Klopocki, E., Stricker, S., van Oosterwijk, J., Vanek, S., Altmann, J., Santos, H.G., van Harssel, J.J., de Ravel, T., Wilkie, A.O., Gal, A., Mundlos, S. (2009) Duplications of noncoding elements 5 of SOX9 are associated with brachydactyly-anonychia. Nat Genet 41, 862-3.
-
(2009)
Nat Genet
, vol.41
, pp. 862-3
-
-
Kurth, I.1
Klopocki, E.2
Stricker, S.3
Van Oosterwijk, J.4
Vanek, S.5
Altmann, J.6
Santos, H.G.7
Van Harssel, J.J.8
De Ravel, T.9
Wilkie, A.O.10
Gal, A.11
Mundlos, S.12
-
93
-
-
26844525739
-
Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency
-
DOI 10.1097/01.GIM.0000177419.43309.37
-
Kurotaki, N,, Shen, J.J., Touyama, M., Kondoh, T., Visser, R., Ozaki, T., Nishimoto, J., Shiihara, T., Uetake, K., Makita, Y., Harada, N., Raskin, S., Brown, C.W., Höglund, P., Okamoto, N., Lupski, J.R. (2005) Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve ( FXII ) defi ciency. Genet Med 7, 479-83. (Pubitemid 41445488)
-
(2005)
Genetics in Medicine
, vol.7
, Issue.7
, pp. 479-483
-
-
Kurotaki, N.1
Shen, J.J.2
Touyama, M.3
Kondoh, T.4
Visser, R.5
Ozaki, T.6
Nishimoto, J.7
Shiihara, T.8
Uetake, K.9
Makita, Y.10
Harada, N.11
Raskin, S.12
Brown, C.W.13
Hoglund, P.14
Okamoto, N.15
Lupski, J.R.16
-
94
-
-
0024761064
-
The proximity of DNA sequences in interphase cell nuclei is correlated to genomic distance and permits ordering of cosmids spanning 250 kilobase pairs
-
Trask, B., Pinkel, D., Van den Engh, G.J. (1989) The proximity of DNA sequences in interphase cell nuclei is correlated to genomic distance and permits ordering of cosmids spanning 250 kilobase pairs. Genomics 5, 710-7.
-
(1989)
Genomics
, vol.5
, pp. 710-7
-
-
Trask, B.1
Pinkel, D.2
Van Den Engh, G.J.3
-
95
-
-
0026737923
-
Estimating genomic distance from DNA sequence location in cell nuclei by a random walk model
-
Van den Engh, G., Van den Sachs, R., Trask, B.J. (1992) Estimating genomic distance from DNA sequence location in cell nuclei by a random walk model. Science 257, 1410-2.
-
(1992)
Science
, vol.257
, pp. 1410-2
-
-
Van Den Engh, G.1
Van Den Sachs, R.2
Trask, B.J.3
-
96
-
-
0242662461
-
Evolutionary Discrimination of Mammalian Conserved Non-Genic Sequences (CNGs)
-
DOI 10.1126/science.1087047
-
Dermitzakis, E.T., Reymond, A., Scamuffa, N., Ucla, C., Kirkness, E., Rossier, C., Antonarakis, S.E. (2003) Evolutionary discrimination of mammalian conserved nongenic sequences (CNGs). Science 302, 1033-5. (Pubitemid 37386193)
-
(2003)
Science
, vol.302
, Issue.5647
, pp. 1033-1035
-
-
Dermitzakis, E.T.1
Reymond, A.2
Scamuffa, N.3
Ucla, C.4
Kirkness, E.5
Rossier, C.6
Antonarakis, S.E.7
-
97
-
-
13144295005
-
Conserved non-genic sequences - An unexpected feature of mammalian genomes
-
DOI 10.1038/nrg1527
-
Dermitzakis, E.T., Reymond, A., Antonarakis, S.E. (2005) Conserved non-genic sequences -an unexpected feature of mammalian genomes. Nat Rev Genet 6, 151-7. (Pubitemid 40179538)
-
(2005)
Nature Reviews Genetics
, vol.6
, Issue.2
, pp. 151-157
-
-
Dermitzakis, E.T.1
Reymond, A.2
Antonarakis, S.E.3
-
98
-
-
0037007044
-
Evolutionary conservation of chromosome territory arrangements in cell nuclei from higher primates
-
DOI 10.1073/pnas.072618599
-
Tanabe, H. Muller, S., Neusser, M., von Hase, J., Calcagno, E., Cremer, M., Solovei, I., Cremer, C., Cremer, T. (2002) Evolutionary conservation of chromosome territory arrangements in cell nuclei from higher primates. Proc Natl Acad Sci USA 99 : 4424-9. (Pubitemid 34286001)
-
(2002)
Proceedings of the National Academy of Sciences of the United States of America
, vol.99
, Issue.7
, pp. 4424-4429
-
-
Tanabe, H.1
Muller, S.2
Neusser, M.3
Von Hase, J.4
Calcagno, E.5
Cremer, M.6
Solovei, I.7
Cremer, C.8
Cremer, T.9
-
99
-
-
0037372327
-
A significant fraction of conserved noncoding DNA in human and mouse consists of predicted matrix attachment regions
-
DOI 10.1016/S0168-9525(03)00016-7
-
Glazko, G.V., Koonin, E.V., Rogozin, I.B., Shabalina, S.A. (2003). A Significant fraction of conserved noncoding DNA in human and mouse consists of predicted matrix attachment regions. Trends Genet 19, 119-24. (Pubitemid 36279175)
-
(2003)
Trends in Genetics
, vol.19
, Issue.3
, pp. 119-124
-
-
Glazko, G.V.1
Koonin, E.V.2
Rogozin, I.B.3
Shabalina, S.A.4
-
100
-
-
0021014396
-
B-Globin gene inactivation by DNA translocation in b-thalassaemia
-
Kioussis, D., Vanin, E., deLange, T., Flavell, R.A., Grosveld, F.G. (1983) b -globin gene inactivation by DNA traslocation un g -b -thalassaemia. Nature 306, 662-6. (Pubitemid 14201849)
-
(1983)
Nature
, vol.306
, Issue.5944
, pp. 662-666
-
-
Kioussis, D.1
Vanin, E.2
DeLange, T.3
-
101
-
-
0012953756
-
δb-Thalassemia due to a de novo mutation deleting the 5' b-globin gene activation-region hypersensitive sites
-
Driscoll, M.C., Dobkin, C.S., Alter, B.P. (1989). g -d -b -Thalassaemia due to a de novo mutation deleting the 5 b -globin gene activation-region hypersensitive sites. Proc Natl Acad Sci USA 86, 7470-4. (Pubitemid 19254478)
-
(1989)
Proceedings of the National Academy of Sciences of the United States of America
, vol.86
, Issue.19
, pp. 7470-7474
-
-
Driscoll, M.C.1
Dobkin, C.S.2
Alter, B.P.3
-
102
-
-
0028988233
-
Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4
-
de Kok, YJ., van der Maarel, S.M., Bitner-Glindzicz, M., Huber, I., Monaco, A.P., Malcolm, S., Pembrey, M.E., Ropers, H.H., Cremers, F.P. (1995). Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. Science 267, 685-8.
-
(1995)
Science
, vol.267
, pp. 685-8
-
-
De Kok, Y.J.1
Van Der Maarel, S.M.2
Bitner-Glindzicz, M.3
Huber, I.4
Monaco, A.P.5
Malcolm, S.6
Pembrey, M.E.7
Ropers, H.H.8
Cremers, F.P.9
-
103
-
-
10144238527
-
Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4
-
DOI 10.1093/hmg/5.9.1229
-
de Kok, Y.J., Vossenaar, E.R., Cremers, C.W., Dahl, N., Laporte, J., Hu, L.J., Lacombe, D., Fischel-Ghodsian, N., Friedman, R.A., Parnes, L.S., Thorpe, P., Bitner-Glindzicz, M., Pander, H.J., Heilbronner, H., Graveline, J., den Dunnen, J.T., Brunner, H.G., Ropers, H.H., Cremers, F.P. (1996). Identifi cation of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4. Hum Mol Genet 5, 1229-35. (Pubitemid 26335839)
-
(1996)
Human Molecular Genetics
, vol.5
, Issue.9
, pp. 1229-1235
-
-
De Kok, Y.J.M.1
Vossenaar, E.R.2
Cremers, C.W.R.J.3
Dahl, N.4
Laporte, J.5
Hu, L.J.6
Lacombe, D.7
Fischel-Ghodsian, N.8
Friedman, R.A.9
Parnes, L.S.10
Thorpe, P.11
Bitner-Glindzicz, M.12
Pander, H.-J.13
Heilbronner, H.14
Graveline, J.15
Den Dunnen, J.T.16
Brunner, H.G.17
Ropers, H.-H.18
Cremers, F.P.M.19
-
104
-
-
0042810698
-
A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly
-
DOI 10.1093/hmg/ddg180
-
Lettice, L.A., Heaney, S.J., Purdie, L.A., Li, L., de Beer, P., Oostra, B.A., Goode, D., Elgar, G., Hill, R.E., de Graaff, E. (2003) A long-range Shh enhancer regulates expression in the developing limb and fi n and is associated with preaxial polydactyly. Hum Mol Genet 12, 1725-35. (Pubitemid 36896664)
-
(2003)
Human Molecular Genetics
, vol.12
, Issue.14
, pp. 1725-1735
-
-
Lettice, L.A.1
Heaney, S.J.H.2
Purdie, L.A.3
Li, L.4
De Beer, P.5
Oostra, B.A.6
Goode, D.7
Elgar, G.8
Hill, R.E.9
De Graaff, E.10
-
105
-
-
67650711156
-
MicroRNAs in cancer
-
Garzon, R., Calin, G.A., Croce, C.M. (2009) MicroRNAs in Cancer. Annu Rev Med 60, 167-79.
-
(2009)
Annu Rev Med
, vol.60
, pp. 167-79
-
-
Garzon, R.1
Calin, G.A.2
Croce, C.M.3
-
106
-
-
52949096084
-
Next-generation DNA sequencing methods
-
Mardis, E.R. (2008) Next-generation DNA sequencing methods. Annu Rev Genomics Hum Genet 9, 387-402.
-
(2008)
Annu Rev Genomics Hum Genet
, vol.9
, pp. 387-402
-
-
Mardis, E.R.1
-
107
-
-
35648976118
-
The diploid genome sequence of an individual human
-
Levy, S., Sutton, G., Ng, P.C., Feuk, L., Halpern, A.L., Walenz, B.P., Axelrod, N., Huang, J., Kirkness, E.F., Denisov, G., Lin, Y., MacDonald, J.R., Pang, A.W., Shago, M., Stockwell, T.B., Tsiamouri, A., Bafna, V., Bansal, V., Kravitz, S.A., Busam, D.A., Beeson, K.Y., McIntosh, T.C., Remington, K.A., Abril, J.F., Gill, J., Borman, J., Rogers, Y.H., Frazier, M.E., Scherer, S.W., Strausberg, R.L., Venter, J.C. (2007) The diploid genome sequence of an individual human. PLoS Biol 5, e254.
-
(2007)
PLoS Biol
, vol.5
-
-
Levy, S.1
Sutton, G.2
Ng, P.C.3
Feuk, L.4
Halpern, A.L.5
Walenz, B.P.6
Axelrod, N.7
Huang, J.8
Kirkness, E.F.9
Denisov, G.10
Lin, Y.11
MacDonald, J.R.12
Pang, A.W.13
Shago, M.14
Stockwell, T.B.15
Tsiamouri, A.16
Bafna, V.17
Bansal, V.18
Kravitz, S.A.19
Busam, D.A.20
Beeson, K.Y.21
McIntosh, T.C.22
Remington, K.A.23
Abril, J.F.24
Gill, J.25
Borman, J.26
Rogers, Y.H.27
Frazier, M.E.28
Scherer, S.W.29
Strausberg, R.L.30
Venter, J.C.31
more..
-
108
-
-
42249087308
-
The complete genome of an individual by massively parallel DNA sequencing
-
DOI 10.1038/nature06884, PII NATURE06884
-
Wheeler, D.A., Srinivasan, M., Egholm, M., Shen, Y., Chen, L., McGuire, A., He, W., Chen, Y.J., Makhijani, V., Roth, G.T., Gomes, X., Tartaro, K., Niazi, F., Turcotte, C.L., Irzyk, G.P., Lupski, J.R., Chinault, C., Song, X.Z., Liu, Y., Yuan, Y., Nazareth, L., Qin, X., Muzny, D.M., Margulies, M., Weinstock, G.M., Gibbs. R.A., Rothberg, J.M. (2008) The complete genome of an individual by massively parallel DNA sequencing. Nature 452, 872-6. (Pubitemid 351550870)
-
(2008)
Nature
, vol.452
, Issue.7189
, pp. 872-876
-
-
Wheeler, D.A.1
Srinivasan, M.2
Egholm, M.3
Shen, Y.4
Chen, L.5
McGuire, A.6
He, W.7
Chen, Y.-J.8
Makhijani, V.9
Roth, G.T.10
Gomes, X.11
Tartaro, K.12
Niazi, F.13
Turcotte, C.L.14
Irzyk, G.P.15
Lupski, J.R.16
Chinault, C.17
Song, X.-Z.18
Liu, Y.19
Yuan, Y.20
Nazareth, L.21
Qin, X.22
Muzny, D.M.23
Margulies, M.24
Weinstock, G.M.25
Gibbs, R.A.26
Rothberg, J.M.27
more..
-
109
-
-
66749148353
-
A systematic, largescale resequencing screen of X-chromosome coding exons in mental retardation
-
Tarpey, P.S., Smith, R., Pleasance, E., Whibley, A., Edkins, S., Hardy, C., OMeara, S., Latimer, C., Dicks, E., Menzies, A., Stephens, P., Blow, M., Greenman, C., Xue, Y., Tyler-Smith, C., Thompson, D., Gray, K., Andrews, J., Barthorpe, S., Buck, G., Cole, J., Dunmore, R., Jones, D., Maddison, M., Mironenko, T., Turner, R., Turrell, K., Varian, J., West, S., Widaa, S., Wray, P., Teague, J., Butler, A., Jenkinson, A., Jia, M., Richardson, D., Shepherd, R., Wooster, R., Tejada, M.I., Martinez, F., Carvill, G., Goliath, R., de Brouwer, A.P., van Bokhoven, H., Van Esch, H., Chelly, J., Raynaud, M., Ropers, H.H., Abidi, F.E., Srivastava, A.K., Cox, J., Luo, Y., Mallya, U., Moon, J., Parnau, J., Mohammed, S., Tolmie, J.L., Shoubridge, C., Corbett, M., Gardner, A., Haan, E., Rujirabanjerd, S., Shaw, M., Vandeleur, L., Fullston, T., Easton, D.F., Boyle, J., Partington, M., Hackett, A., Field, M., Skinner, C., Stevenson, R.E., Bobrow, M., Turner, G., Schwartz, C.E., Gecz, J., Raymond, F.L., Futreal, P.A., Stratton, M.R. (2009) A systematic, largescale resequencing screen of X-chromosome coding exons in mental retardation. Nat Genet 41, 535-43.
-
(2009)
Nat Genet
, vol.41
, pp. 535-43
-
-
Tarpey, P.S.1
Smith, R.2
Pleasance, E.3
Whibley, A.4
Edkins, S.5
Hardy, C.6
Omeara, S.7
Latimer, C.8
Dicks, E.9
Menzies, A.10
Stephens, P.11
Blow, M.12
Greenman, C.13
Xue, Y.14
Tyler-Smith, C.15
Thompson, D.16
Gray, K.17
Andrews, J.18
Barthorpe, S.19
Buck, G.20
Cole, J.21
Dunmore, R.22
Jones, D.23
Maddison, M.24
Mironenko, T.25
Turner, R.26
Turrell, K.27
Varian, J.28
West, S.29
Widaa, S.30
Wray, P.31
Teague, J.32
Butler, A.33
Jenkinson, A.34
Jia, M.35
Richardson, D.36
Shepherd, R.37
Wooster, R.38
Tejada, M.I.39
Martinez, F.40
Carvill, G.41
Goliath, R.42
De Brouwer, A.P.43
Van Bokhoven, H.44
Van Esch, H.45
Chelly, J.46
Raynaud, M.47
Ropers, H.H.48
Abidi, F.E.49
Srivastava, A.K.50
Cox, J.51
Luo, Y.52
Mallya, U.53
Moon, J.54
Parnau, J.55
Mohammed, S.56
Tolmie, J.L.57
Shoubridge, C.58
Corbett, M.59
Gardner, A.60
Haan, E.61
Rujirabanjerd, S.62
Shaw, M.63
Vandeleur, L.64
Fullston, T.65
Easton, D.F.66
Boyle, J.67
Partington, M.68
Hackett, A.69
Field, M.70
Skinner, C.71
Stevenson, R.E.72
Bobrow, M.73
Turner, G.74
Schwartz, C.E.75
Gecz, J.76
Raymond, F.L.77
Futreal, P.A.78
Stratton, M.R.79
more..
-
110
-
-
70249111091
-
Targeted capture and massively parallel sequencing of 12 human exomes
-
Ng, S.B., Turner, E.H., Robertson, P.D., Flygare, S.D., Bigham, A.W., Lee, C., Shaffer, T., Wong, M., Bhattacharjee, A., Eichler, E.E., Bamshad, M., Nickerson, D.A., Shendure, J. (2009) Targeted capture and massively parallel sequencing of 12 human exomes. Nature 461, 272-6.
-
(2009)
Nature
, vol.461
, pp. 272-6
-
-
Ng, S.B.1
Turner, E.H.2
Robertson, P.D.3
Flygare, S.D.4
Bigham, A.W.5
Lee, C.6
Shaffer, T.7
Wong, M.8
Bhattacharjee, A.9
Eichler, E.E.10
Bamshad, M.11
Nickerson, D.A.12
Shendure, J.13
-
111
-
-
77950475726
-
Wholegenome sequencing in a patient with Charcot-Marie Tooth neuropathy
-
Lupski, J.R., Reid, J.G., Gonzaga-Jauregui, C., Deiros, D.R., Chen, D.C.Y., Nazareth, L., Bainbridge, M., Dinh, H., Jing, C., Wheeler, D.A., McGuire, A.L., Zhang, F., Stankiewicz, P., Halperin, J.J., Yang, C., Gehman, C., Guo, D., Irikat, R.K., Tom, W., Fantin, N.J., Muzny, D.M., Gibbs, R.A. (2010) Wholegenome sequencing in a patient with Charcot-Marie Tooth neuropathy. N Engl J Med 362, 1181-91.
-
(2010)
N Engl J Med
, vol.362
, pp. 1181-91
-
-
Lupski, J.R.1
Reid, J.G.2
Gonzaga-Jauregui, C.3
Deiros, D.R.4
Chen, D.C.Y.5
Nazareth, L.6
Bainbridge, M.7
Dinh, H.8
Jing, C.9
Wheeler, D.A.10
McGuire, A.L.11
Zhang, F.12
Stankiewicz, P.13
Halperin, J.J.14
Yang, C.15
Gehman, C.16
Guo, D.17
Irikat, R.K.18
Tom, W.19
Fantin, N.J.20
Muzny, D.M.21
Gibbs, R.A.22
more..
-
112
-
-
35348988679
-
Paired-end mapping reveals extensive structural variation in the human genome
-
DOI 10.1126/science.1149504
-
Korbel, J.O., Urban, A.E., Affourtit, J.P., Godwin, B., Grubert, F., Simons, J.F., Kim, P.M., Palejev, D., Carriero, N.J., Du, L., Taillon, B.E., Chen, Z., Tanzer, A., Saunders, A.C., Chi, J., Yang, F., Carter, N.P., Hurles, M.E., Weissman, S.M., Harkins, T.T., Gerstein, M.B., Egholm, M., Snyder, M. (2007) Paired-end mapping reveals extensive structural variation in the human genome. Science 318, 420-6. (Pubitemid 47614521)
-
(2007)
Science
, vol.318
, Issue.5849
, pp. 420-426
-
-
Korbel, J.O.1
Urban, A.E.2
Affourtit, J.P.3
Godwin, B.4
Grubert, F.5
Simons, J.F.6
Kim, P.M.7
Palejev, D.8
Carriero, N.J.9
Du, L.10
Taillon, B.E.11
Chen, Z.12
Tanzer, A.13
Saunders, A.C.E.14
Chi, J.15
Yang, F.16
Carter, N.P.17
Hurles, M.E.18
Weissman, S.M.19
Harkins, T.T.20
Gerstein, M.B.21
Egholm, M.22
Snyder, M.23
more..
-
113
-
-
43049143055
-
Mapping and sequencing of structural variation from eight human genomes
-
DOI 10.1038/nature06862, PII NATURE06862
-
Kidd, J.M., Cooper, G.M., Donahue, W.F., Hayden, H.S., Sampas, N., Graves, T., Hansen, N., Teague, B., Alkan, C., Antonacci, F., Haugen, E., Zerr, T., Yamada, N.A., Tsang, P., Newman, T.L., Tüzün, E., Cheng, Z., Ebling, H.M., Tusneem, N., David, R., Gillett, W., Phelps, K.A., Weaver, M., Saranga, D., Brand, A., Tao, W., Gustafson, E., McKernan, K., Chen, L., Malig, M., Smith, J.D., Korn, J.M., McCarroll, S.A., Altshuler, D.A., Peiffer, D.A., Dorschner, M., Stamatoyannopoulos, J., Schwartz, D., Nickerson, D.A., Mullikin, J.C., Wilson, R.K., Bruhn, L., Olson, M.V., Kaul, R., Smith, D.R., Eichler, E.E. (2008) Mapping and sequencing of structural variation from eight human genomes. Nature 453, 56-64. (Pubitemid 351630326)
-
(2008)
Nature
, vol.453
, Issue.7191
, pp. 56-64
-
-
Kidd, J.M.1
Cooper, G.M.2
Donahue, W.F.3
Hayden, H.S.4
Sampas, N.5
Graves, T.6
Hansen, N.7
Teague, B.8
Alkan, C.9
Antonacci, F.10
Haugen, E.11
Zerr, T.12
Yamada, N.A.13
Tsang, P.14
Newman, T.L.15
Tuzun, E.16
Cheng, Z.17
Ebling, H.M.18
Tusneem, N.19
David, R.20
Gillett, W.21
Phelps, K.A.22
Weaver, M.23
Saranga, D.24
Brand, A.25
Tao, W.26
Gustafson, E.27
McKernan, K.28
Chen, L.29
Malig, M.30
Smith, J.D.31
Korn, J.M.32
McCarroll, S.A.33
Altshuler, D.A.34
Peiffer, D.A.35
Dorschner, M.36
Stamatoyannopoulos, J.37
Schwartz, D.38
Nickerson, D.A.39
Mullikin, J.C.40
Wilson, R.K.41
Bruhn, L.42
Olson, M.V.43
Kaul, R.44
Smith, D.R.45
Eichler, E.E.46
more..
-
114
-
-
74049090046
-
Building the sequence map of the human pangenome
-
Li, R., Li, Y., Zheng, H., Luo, R., Zhu, H., Li, Q., Qian, W., Ren, Y., Tian, G., Li, J., Zhou, G., Zhu, X., Wu, H., Qin, J., Jin, X., Li, D., Cao, H., Hu, X., Blanche, H., Cann, H., Zhang, X., Li, S., Bolund, L., Kristiansen, K., Yang, H., Wang, J., Wang, J. (2010) Building the sequence map of the human pangenome. Nat Biotechnol 28, 57-63.
-
(2010)
Nat Biotechnol
, vol.28
, pp. 57-63
-
-
Li, R.1
Li, Y.2
Zheng, H.3
Luo, R.4
Zhu, H.5
Li, Q.6
Qian, W.7
Ren, Y.8
Tian, G.9
Li, J.10
Zhou, G.11
Zhu, X.12
Wu, H.13
Qin, J.14
Jin, X.15
Li, D.16
Cao, H.17
Hu, X.18
Blanche, H.19
Cann, H.20
Zhang, X.21
Li, S.22
Bolund, L.23
Kristiansen, K.24
Yang, H.25
Wang, J.26
Wang, J.27
more..
-
115
-
-
33947220222
-
Structural variation in the human genome
-
Lupski, J.R. (2007) Structural variation in the human genome. N Engl J Med 356, 1169-7.
-
(2007)
N Engl J Med
, vol.356
, pp. 1169-7
-
-
Lupski, J.R.1
-
116
-
-
8444223551
-
Origins of chromosomal rearrangement hotspots in the human genome: Evidence from the AZFa deletion hotspots
-
Hurles, M.E., Willey, D., Matthews, L., Hussain, S.S. (2004) Origins of chromosomal rearrangement hotspots in the human genome: evidence from the AZFa deletion hotspots. Genome Biol 5, R55.
-
(2004)
Genome Biol
, vol.5
-
-
Hurles, M.E.1
Willey, D.2
Matthews, L.3
Hussain, S.S.4
-
117
-
-
0025868571
-
DNA duplication associated with Charcot-Marie-Tooth disease type 1A
-
Lupski, J.R., Montes de Oca-Luna, R., Slaugenhaupt, S., Pentao, L., Guzzetta, V., Trask, B. J., Saucedo-Cardenas, O., Barker, D. F., Killian, J. M., Garcia, C. A., Chakravarti, A., Patel, P. I. (1991) DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 66, 219-32. (Pubitemid 121001361)
-
(1991)
Cell
, vol.66
, Issue.2
, pp. 219-232
-
-
Lupski, J.R.1
De Oca-Luna, R.M.2
Slaugenhaupt, S.3
Pentao, L.4
Guzzetta, V.5
Trask, B.J.6
Saucedo-Cardenas, O.7
Barker, D.F.8
Killian, J.M.9
Garcia, C.A.10
Chakravarti, A.11
Patel, P.I.12
-
118
-
-
0027509953
-
DNA deletion associated with hereditary neuropathy with liability to pressure palsies
-
DOI 10.1016/0092-8674(93)90058-X
-
Chance, P.F., Alderson, M.K., Leppig, K.A., Lensch, M.W., Matsunami, N., Smith, B., Swanson, P.D., Odelberg, S.J., Disteche, C.M., Bird, T.D. (1993) DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 72, 143-51. (Pubitemid 23029701)
-
(1993)
Cell
, vol.72
, Issue.1
, pp. 143-151
-
-
Chance, P.F.1
Alderson, M.K.2
Leppig, K.A.3
Lensch, M.W.4
Matsunami, N.5
Smith, B.6
Swanson, P.D.7
Odelberg, S.J.8
Disteche, C.M.9
Bird, T.D.10
-
120
-
-
10744223651
-
Role of TBX1 in human del22q11.2 syndrome
-
DOI 10.1016/S0140-6736(03)14632-6
-
Yagi, H., Furutani, Y., Hamada, H., Sasaki, T., Asakawa, S., Minoshima, S., Ichida, F., Joo, K., Kimura, M., Imamura, S., Kamatani, N., Momma, K., Takao, A., Nakazawa, M., Shimizu, N., Matsuoka, R. (2003) Role of TBX1 in human del22q11.2 syndrome. Lancet 362, 1366-73. (Pubitemid 37338337)
-
(2003)
Lancet
, vol.362
, Issue.9393
, pp. 1366-1373
-
-
Yagi, H.1
Furutani, Y.2
Hamada, H.3
Sasaki, T.4
Asakawa, S.5
Minoshima, S.6
Ichida, F.7
Joo, K.8
Kimura, M.9
Imamura, S.-I.10
Kamatani, N.11
Momma, K.12
Takao, A.13
Nakazawa, M.14
Shimizu, N.15
Matsuoka, R.16
-
121
-
-
0242607574
-
Microduplication 22q11.2, an Emerging Syndrome: Clinical, Cytogenetic, and Molecular Analysis of Thirteen Patients
-
DOI 10.1086/378818
-
Ensenauer, R.E., Adeyinka, A., Flynn, H.C., Michels, V.V., Lindor, N.M., Dawson, D.B., Thorland, E.C., Lorentz, C.P., Goldstein, J.L., McDonald, M.T., Smith, W.E., Simon-Fayard, E., Alexander, A.A., Kulharya, A.S., Ketterling, R.P., Clark, R.D., Jalal, S.M. (2003) Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients. Am J Hum Genet 73, 1027-40. (Pubitemid 37414217)
-
(2003)
American Journal of Human Genetics
, vol.73
, Issue.5
, pp. 1027-1040
-
-
Ensenauer, R.E.1
Adeyinka, A.2
Flynn, H.C.3
Michels, V.V.4
Lindor, N.M.5
Dawson, D.B.6
Thorland, E.C.7
Lorentz, C.P.8
Goldstein, J.L.9
McDonald, M.T.10
Smith, W.E.11
Simon-Fayard, E.12
Alexander, A.A.13
Kulharya, A.S.14
Ketterling, R.P.15
Clark, R.D.16
Jalal, S.M.17
-
122
-
-
0033909456
-
NF1 microdeletion syndrome: Refined FISH characterization of sporadic and familial deletions with locus-specific probes
-
DOI 10.1086/302709
-
Riva, P., Corrado, L., Natacci, F., Castorina, P., Wu, B.-L., Schneider, G. H., Clementi, M., Tenconi, R., Korf, B. R., Larizza, L. (2000) NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probes. Am J Hum Genet 66, 100-9. (Pubitemid 30481472)
-
(2000)
American Journal of Human Genetics
, vol.66
, Issue.1
, pp. 100-109
-
-
Riva, P.1
Corrado, L.2
Natacci, F.3
Castorina, P.4
Wu, B.-L.5
Schneider, G.H.6
Clementi, M.7
Tenconi, R.8
Korf, B.R.9
Larizza, L.10
-
123
-
-
0142027581
-
Identification of Four Highly Conserved Genes between Breakpoint Hotspots BP1 and BP2 of the Prader-Willi/Angelman Syndromes Deletion Region That Have Undergone Evolutionary Transposition Mediated by Flanking Duplicons
-
DOI 10.1086/378816
-
Chai, J.H., Locke, D.P., Greally, J.M., Knoll, J.H., Ohta, T., Dunai, J., Yavor, A., Eichler, E.E. (2003) Nicholls RD Identifi cation of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by fl anking duplicons. Am J Hum Genet 73, 898-925. (Pubitemid 37271892)
-
(2003)
American Journal of Human Genetics
, vol.73
, Issue.4
, pp. 898-925
-
-
Chai, J.-H.1
Locke, D.P.2
Greally, J.M.3
Knoll, J.H.M.4
Ohta, T.5
Dunai, J.6
Yavor, A.7
Eichler, E.E.8
Nicholls, R.D.9
-
124
-
-
44349191455
-
Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster
-
DOI 10.1038/ng.158, PII NG158
-
Sahoo T, del Gaudio D, German JR, Shinawi M, Peters SU, Person RE, Garnica A, Cheung SW, Beaudet AL. (2008) Prader-Willi phenotype caused by paternal defi ciency for the HBII-85 C/D box small nucleolar RNA cluster. Nat Genet 40, 719-21. (Pubitemid 351748873)
-
(2008)
Nature Genetics
, vol.40
, Issue.6
, pp. 719-721
-
-
Sahoo, T.1
Del Gaudio, D.2
German, J.R.3
Shinawi, M.4
Peters, S.U.5
Person, R.E.6
Garnica, A.7
Cheung, S.W.8
Beaudet, A.L.9
-
125
-
-
0344466705
-
Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]
-
DOI 10.1097/01.GIM.0000095625.14160.AB
-
Potocki, L., Shaw, C.J., Stankiewicz, P., Lupski, J.R. (2003) Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome (del(17) (p11.2p11.2)). Genet Med 5, 430-4. (Pubitemid 37483411)
-
(2003)
Genetics in Medicine
, vol.5
, Issue.6
, pp. 430-434
-
-
Potocki, L.1
Shaw, C.J.2
Stankiewicz, P.3
Lupski, J.R.4
-
126
-
-
34147169956
-
Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype
-
DOI 10.1086/512864
-
Potocki, L., Bi, W., Treadwell-Deering, D., Carvalho, C.M., Eifert, A., Friedman, E.M., Glaze, D., Krull, K., Lee, J.A., Lewis, R.A., Mendoza-Londono, R., Robbins-Furman, P., Shaw, C., Shi, X., Weissenberger, G., Withers, M., Yatsenko, S.A., Zackai, E.H., Stankiewicz, P., Lupski, J.R. (2007) Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet 80, 633-49. (Pubitemid 46564401)
-
(2007)
American Journal of Human Genetics
, vol.80
, Issue.4
, pp. 633-649
-
-
Potocki, L.1
Bi, W.2
Treadwell-Deering, D.3
Carvalho, C.M.B.4
Eifert, A.5
Friedman, E.M.6
Glaze, D.7
Krull, K.8
Lee, J.A.9
Lewis, R.A.10
Mendoza-Londono, R.11
Robbins-Furman, P.12
Shaw, C.13
Shi, X.14
Weissenberger, G.15
Withers, M.16
Yatsenko, S.A.17
Zackai, E.H.18
Stankiewicz, P.19
Lupski, J.R.20
more..
-
127
-
-
74449086534
-
A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion
-
Franco, L.M., de Ravel, T., Graham, B.H., Frenkel, S.M., Van Driessche, J., Stankiewicz, P., Lupski, J.R., Vermeesch, J.R., Cheung, S.W. (2010) A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion. Eur J Hum Genet 18, 258-61.
-
(2010)
Eur J Hum Genet
, vol.18
, pp. 258-61
-
-
Franco, L.M.1
De Ravel, T.2
Graham, B.H.3
Frenkel, S.M.4
Van Driessche, J.5
Stankiewicz, P.6
Lupski, J.R.7
Vermeesch, J.R.8
Cheung, S.W.9
-
128
-
-
0032744721
-
X-linked ichthyosis: An update
-
DOI 10.1046/j.1365-2133.1999.03098.x
-
Hernández-Martín, A., González-Sarmiento, R., De Unamuno, P. (1999) X-linked ichthyosis: an update. Br J Dermatol 141, 617-27. (Pubitemid 29512813)
-
(1999)
British Journal of Dermatology
, vol.141
, Issue.4
, pp. 617-627
-
-
Hernandez-Martin, A.1
Gonzalez-Sarmiento, R.2
De Unamuno, P.3
-
129
-
-
0141960163
-
Williams-Beuren syndrome: A challenge for genotype-phenotype correlations
-
Tassabehji, M. (2003) Williams-Beuren syndrome: a challenge for genotype-phenotype correlations. Hum Mol Genet 2, R229-37. (Pubitemid 37259337)
-
(2003)
Human Molecular Genetics
, vol.12
, Issue.REV. ISS. 2
-
-
Tassabehji, M.1
-
130
-
-
26844496418
-
Severe expressive-language delay related to duplication of the Williams-Beuren locus
-
DOI 10.1056/NEJMoa051962
-
Somerville, M.J., Mervis, C.B., Young, E.J., Seo, E.J., del Campo, M., Bamforth, S., Peregrine, E., Loo, W., Lilley, M., Pérez-Jurado, L.A., Morris, C.A., Scherer, S.W., Osborne, L.R. (2005) Severe expressive-language delay related to duplication of the Williams-Beuren locus. N Engl J Med 353, 1694-701. (Pubitemid 41464708)
-
(2005)
New England Journal of Medicine
, vol.353
, Issue.16
, pp. 1694-1701
-
-
Somerville, M.J.1
Mervis, C.B.2
Young, E.J.3
Seo, E.-J.4
Del Campo, M.5
Bamforth, S.6
Peregrine, E.7
Loo, W.8
Lilley, M.9
Perez-Jurado, L.A.10
Morris, C.A.11
Scherer, S.W.12
Osborne, L.R.13
-
131
-
-
33846562388
-
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome
-
DOI 10.1086/510919
-
Klopocki, E., Schulze, H., Strauss, G., Ott, C.E., Hall, J., Trotier, F., Fleischhauer, S., Greenhalgh, L., Newbury-Ecob, R.A., Neumann, L.M., Habenicht, R., König, R., Seemanova, E., Megarbane, A., Ropers, H.H., Ullmann, R., Horn, D., Mundlos, S. (2007) Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet 80, 232-40. (Pubitemid 46175672)
-
(2007)
American Journal of Human Genetics
, vol.80
, Issue.2
, pp. 232-240
-
-
Klopocki, E.1
Schulze, H.2
Strauss, G.3
Ott, C.-E.4
Hall, J.5
Trotier, F.6
Fleischhauer, S.7
Greenhalgh, L.8
Newbury-Ecob, R.A.9
Neumann, L.M.10
Habenicht, R.11
Konig, R.12
Seemanova, E.13
Megarbane, A.14
Ropers, H.-H.15
Ullmann, R.16
Horn, D.17
Mundlos, S.18
-
132
-
-
20544435269
-
3q29 microdeletion syndrome: Clinical and molecular characterization of a new syndrome
-
DOI 10.1086/431653
-
Willatt, L., Cox, J., Barber, J., Cabanas, E.D., Collins, A., Donnai, D., Fitzpatrick, D.R., Maher, E., Martin, H., Parnau, J., Pindar, L., Ramsay, J., Shaw-Smith, C., Sistermans, E.A., Tettenborn, M., Trump, D., de Vries, B.B., Walker, K., Raymond, F.L. (2005) 3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome. Am J Hum Genet 77, 154-60. (Pubitemid 40848047)
-
(2005)
American Journal of Human Genetics
, vol.77
, Issue.1
, pp. 154-160
-
-
Willatt, L.1
Cox, J.2
Barber, J.3
Cabanas, E.D.4
Collins, A.5
Donnai, D.6
FitzPatrick, D.R.7
Maher, E.8
Martin, H.9
Parnau, J.10
Pindar, L.11
Ramsay, J.12
Shaw-Smith, C.13
Sistermans, E.A.14
Tettenborn, M.15
Trump, D.16
De Vries, B.B.A.17
Walker, K.18
Raymond, F.L.19
-
133
-
-
60849125859
-
Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication
-
Ballif, B.C., Theisen, A., Coppinger, J., Gowans, G.C., Hersh, J.H., Madan-Khetarpal, S., Schmidt, K.R., Tervo, R., Escobar, L.F., Friedrich, C.A., McDonald, M., Campbell, L., Ming, J.E., Zackai, E.H., Bejjani, B.A., Shaffer, L.G. (2008) Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication. Mol Cytogenet 1, 8.
-
(2008)
Mol Cytogenet
, vol.1
, pp. 8
-
-
Ballif, B.C.1
Theisen, A.2
Coppinger, J.3
Gowans, G.C.4
Hersh, J.H.5
Madan-Khetarpal, S.6
Schmidt, K.R.7
Tervo, R.8
Escobar, L.F.9
Friedrich, C.A.10
McDonald, M.11
Campbell, L.12
Ming, J.E.13
Zackai, E.H.14
Bejjani, B.A.15
Shaffer, L.G.16
-
134
-
-
0033365295
-
Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1
-
DOI 10.1086/302330
-
Devriendt, K., Matthijs, G., Van Dael, R., Gewillig, M., Eyskens, B., Hjalgrim, H., Dolmer, B., McGaughran, J., Bröndum-Nielsen, K., Marynen, P., Fryns, J.P., Vermeesch, J.R. (1999) Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1. Am J Hum Genet 64, 1119-26. (Pubitemid 30463043)
-
(1999)
American Journal of Human Genetics
, vol.64
, Issue.4
, pp. 1119-1126
-
-
Devriendt, K.1
Matthijs, G.2
Van Dael, R.3
Gewillig, M.4
Eyskens, B.5
Hjalgrim, H.6
Dolmer, B.7
McGaughran, J.8
Brondum-Nielsen, K.9
Marynen, P.10
Fryns, J.-P.11
Vermeesch, J.R.12
-
135
-
-
37249022274
-
8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH
-
DOI 10.1038/sj.ejhg.5201932, PII 5201932
-
Barber, J.C., Maloney, V.K., Huang, S., Bunyan, D.J., Cresswell, L., Kinning, E., Benson, A., Cheetham, T., Wyllie, J., Lynch, S.A., Zwolinski, S., Prescott, L., Crow, Y., Morgan, R., Hobson, E. (2008) 8p23.1 dupli cation syndrome: A novel genomic condition with unexpected complexity revealed by array CGH. Eur J Hum Genet 16, 18-27. (Pubitemid 350269235)
-
(2008)
European Journal of Human Genetics
, vol.16
, Issue.1
, pp. 18-27
-
-
Barber, J.C.K.1
Maloney, V.K.2
Huang, S.3
Bunyan, D.J.4
Cresswell, L.5
Kinning, E.6
Benson, A.7
Cheetham, T.8
Wyllie, J.9
Lynch, S.A.10
Zwolinski, S.11
Prescott, L.12
Crow, Y.13
Morgan, R.14
Hobson, E.15
-
136
-
-
34247569809
-
Recurrent 10q22-q23 deletions: A genomic disorder on 10q associated with cognitive and behavioral abnormalities
-
DOI 10.1086/513607
-
Balciuniene, J., Feng, N., Iyadurai, K., Hirsch, B., Charnas, L., Bill, B.R., Easterday, M.C., Staaf, J., Oseth, L., Czapansky-Beilman, D., Avramopoulos, D., Thomas, G.H., Borg, A., Valle, D., Schimmenti, L.A., Selleck, S.B. (2007) Recurrent 10q22-q23 deletions: a genomic disorder on 10q associated with cognitive and behavioral abnormalities. Am J Hum Genet 80, 938-47. (Pubitemid 46668462)
-
(2007)
American Journal of Human Genetics
, vol.80
, Issue.5
, pp. 938-947
-
-
Balciuniene, J.1
Feng, N.2
Iyadurai, K.3
Hirsch, B.4
Charnas, L.5
Bill, B.R.6
Easterday, M.C.7
Staaf, J.8
Oseth, L.9
Czapansky-Beilman, D.10
Avramopoulos, D.11
Thomas, G.H.12
Borg, A.13
Valle, D.14
Schimmenti, L.A.15
Selleck, S.B.16
-
137
-
-
16944364326
-
Autism or atypical autism in maternally but not paternally derived proximal 15q duplication
-
Cook, E.H. Jr., Lindgren, V., Leventhal, B.L., Courchesne, R., Lincoln, A., Shulman, C., Lord, C., Courchesne, E. (1997) Autism or atypical autism in maternally but not paternally derived proximal 15q duplication. Am J Hum Genet 60, 928-34. (Pubitemid 27146502)
-
(1997)
American Journal of Human Genetics
, vol.60
, Issue.4
, pp. 928-934
-
-
Cook Jr., E.H.1
Lindgren, V.2
Leventhal, B.L.3
Courchesne, R.4
Lincoln, A.5
Shulman, C.6
Lord, C.7
Courchesne, E.8
-
138
-
-
62649088108
-
Population analysis of large copy number variants and hotspots of human genetic disease
-
Itsara, A., Cooper, G. M., Baker, C., Girirajan, S., Li, J., Absher, D., Krauss, R.M., Myers, R.M., Ridker, P.M., Chasman, D. I., Mefford, H., Ying, P., Nickerson, D.A., Eichler, E.E. (2009) Population analysis of large copy number variants and hotspots of human genetic disease. Am J Hum Genet 84, 148-61.
-
(2009)
Am J Hum Genet
, vol.84
, pp. 148-161
-
-
Itsara, A.1
Cooper, G.M.2
Baker, C.3
Girirajan, S.4
Li, J.5
Absher, D.6
Krauss, R.M.7
Myers, R.M.8
Ridker, P.M.9
Chasman, D.I.10
Mefford, H.11
Ying, P.12
Nickerson, D.A.13
Eichler, E.E.14
-
139
-
-
34047114932
-
Characterization of a recurrent 15q24 microdeletion syndrome
-
Sharp, A.J., Selzer, R.R., Veltman, J.A., Gimelli, S., Gimelli, G., Striano, P., Coppola, A., Regan, R., Price, S.M., Knoers, N.V., Eis, P.S., Brunner, H.G., Hennekam, R.C., Knight, S.J., de Vries, B.B., Zuffardi, O., Eichler, E.E. (2007) Characterization of a recurrent 15q24 microdeletion syndrome. Hum Mol Genet 16, 67-72.
-
(2007)
Hum Mol Genet
, vol.16
, pp. 67-72
-
-
Sharp, A.J.1
Selzer, R.R.2
Veltman, J.A.3
Gimelli, S.4
Gimelli, G.5
Striano, P.6
Coppola, A.7
Regan, R.8
Price, S.M.9
Knoers, N.V.10
Eis, P.S.11
Brunner, H.G.12
Hennekam, R.C.13
Knight, S.J.14
De Vries, B.B.15
Zuffardi, O.16
Eichler, E.E.17
-
140
-
-
70350179748
-
Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping
-
El-Hattab, A.W., Smolarek, T.A., Walker, M.E., Schorry, E.K., Immken, L.L., Patel, G., Abbott, M.A., Lanpher, B.C., Ou, Z., Kang, S.H., Patel, A., Scaglia, F., Lupski, J.R., Cheung, S.W., Stankiewicz, P. (2009) Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping. Hum Genet 126, 589-602.
-
(2009)
Hum Genet
, vol.126
, pp. 589-602
-
-
El-Hattab, A.W.1
Smolarek, T.A.2
Walker, M.E.3
Schorry, E.K.4
Immken, L.L.5
Patel, G.6
Abbott, M.A.7
Lanpher, B.C.8
Ou, Z.9
Kang, S.H.10
Patel, A.11
Scaglia, F.12
Lupski, J.R.13
Cheung, S.W.14
Stankiewicz, P.15
-
141
-
-
78149361715
-
Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive defi cits, and possibly Diamond-Blackfan anemia
-
Wat, M.J., Enciso, V.B., Wiszniewski, W., Resnick, T., Bader, P., Roeder, E.R., Freedenberg, D., Brown, C., Stankiewicz, P., Cheung, S.W., Scott, D.A. (2010) Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive defi cits, and possibly Diamond-Blackfan anemia. J Med Genet 47, 777-81.
-
(2010)
J Med Genet
, vol.47
, pp. 777-81
-
-
Wat, M.J.1
Enciso, V.B.2
Wiszniewski, W.3
Resnick, T.4
Bader, P.5
Roeder, E.R.6
Freedenberg, D.7
Brown, C.8
Stankiewicz, P.9
Cheung, S.W.10
Scott, D.A.11
-
142
-
-
76249116215
-
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2
-
Walters, R.G., Jacquemont, S., Valsesia, A., de Smith, A.J., Martinet, D., Andersson, J., Falchi, M., Chen, F., Andrieux, J., Lobbens, S., Delobel, B., Stutzmann, F., El-Sayed Moustafa, J.S., Chvre, J.C., Lecoeur, C., Vatin, V., Bouquillon, S., Buxton, J.L., Boute, O., Holder-Espinasse, M., Cuisset, J.M., Lemaitre, M.P., Ambresin, A.E., Brioschi, A., Gaillard, M., Giusti, V., Fellmann, F., Ferrarini, A., Hadjikhani, N., Campion, D., Guilmatre, A., Goldenberg, A., Calmels, N., Mandel, J.L., Le Caignec, C., David, A., Isidor, B., Cordier, M.P., Dupuis-Girod, S., Labalme, A., Sanlaville, D., Béri-Dexheimer, M., Jonveaux, P., Leheup, B., Ounap, K., Bochukova, E.G., Henning, E., Keogh, J., Ellis, R.J., Macdermot, K.D., van Haelst, M.M., Vincent-Delorme, C., Plessis, G., Touraine, R., Philippe, A., Malan, V., Mathieu-Dramard, M., Chiesa, J., Blaumeiser, B., Kooy, R.F., Caiazzo, R., Pigeyre, M., Balkau, B., Sladek, R., Bergmann, S., Mooser, V., Waterworth, D., Reymond, A., Vollenweider, P., Waeber, G., Kurg, A., Palta, P., Esko, T., Metspalu, A., Nelis, M., Elliott, P., Hartikainen, A.L., McCarthy, M.I., Peltonen, L., Carlsson, L., Jacobson, P., Sjöström, L., Huang, N., Hurles, M.E., ORahilly, S., Farooqi, I.S., Männik, K., Jarvelin, M.R., Pattou, F., Meyre, D., Walley, A.J., Coin, L.J., Blakemore, A.I., Froguel, P., Beckmann, J.S. (2010) A new highly penetrant form of obesity due to deletions on chromosome 16p11.2. Nature 463, 671-5.
-
(2010)
Nature
, vol.463
, pp. 671-5
-
-
Walters, R.G.1
Jacquemont, S.2
Valsesia, A.3
De Smith, A.J.4
Martinet, D.5
Andersson, J.6
Falchi, M.7
Chen, F.8
Andrieux, J.9
Lobbens, S.10
Delobel, B.11
Stutzmann, F.12
El-Sayed Moustafa, J.S.13
Chvre, J.C.14
Lecoeur, C.15
Vatin, V.16
Bouquillon, S.17
Buxton, J.L.18
Boute, O.19
Holder-Espinasse, M.20
Cuisset, J.M.21
Lemaitre, M.P.22
Ambresin, A.E.23
Brioschi, A.24
Gaillard, M.25
Giusti, V.26
Fellmann, F.27
Ferrarini, A.28
Hadjikhani, N.29
Campion, D.30
Guilmatre, A.31
Goldenberg, A.32
Calmels, N.33
Mandel, J.L.34
Le Caignec, C.35
David, A.36
Isidor, B.37
Cordier, M.P.38
Dupuis-Girod, S.39
Labalme, A.40
Sanlaville, D.41
Béri-Dexheimer, M.42
Jonveaux, P.43
Leheup, B.44
Ounap, K.45
Bochukova, E.G.46
Henning, E.47
Keogh, J.48
Ellis, R.J.49
MacDermot, K.D.50
Van Haelst, M.M.51
Vincent-Delorme, C.52
Plessis, G.53
Touraine, R.54
Philippe, A.55
Malan, V.56
Mathieu-Dramard, M.57
Chiesa, J.58
Blaumeiser, B.59
Kooy, R.F.60
Caiazzo, R.61
Pigeyre, M.62
Balkau, B.63
Sladek, R.64
Bergmann, S.65
Mooser, V.66
Waterworth, D.67
Reymond, A.68
Vollenweider, P.69
Waeber, G.70
Kurg, A.71
Palta, P.72
Esko, T.73
Metspalu, A.74
Nelis, M.75
Elliott, P.76
Hartikainen, A.L.77
McCarthy, M.I.78
Peltonen, L.79
Carlsson, L.80
Jacobson, P.81
Sjöström, L.82
Huang, N.83
Hurles, M.E.84
Orahilly, S.85
Farooqi, I.S.86
Männik, K.87
Jarvelin, M.R.88
Pattou, F.89
Meyre, D.90
Walley, A.J.91
Coin, L.J.92
Blakemore, A.I.93
Froguel, P.94
Beckmann, J.S.95
more..
-
143
-
-
34548339637
-
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2
-
DOI 10.1038/ng2107, PII NG2107
-
Ballif, B.C., Hornor, S.A., Jenkins, E., Madan-Khetarpal, S., Surti, U., Jackson, K.E., Asamoah, A., Brock, P.L., Gowans, G.C., Conway, R.L., Graham, J.M., Medne, L., Zackai, E.H., Shaikh, T.H., Geoghegan, J., Selzer, R.R., Eis, P.S., Bejjani, B.A., Shaffer, L.G. (2007) Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2. Nat Genet 39, 1071-3. (Pubitemid 47340655)
-
(2007)
Nature Genetics
, vol.39
, Issue.9
, pp. 1071-1073
-
-
Ballif, B.C.1
Hornor, S.A.2
Jenkins, E.3
Madan-Khetarpal, S.4
Surti, U.5
Jackson, K.E.6
Asamoah, A.7
Brock, P.L.8
Gowans, G.C.9
Conway, R.L.10
Graham Jr., J.M.11
Medne, L.12
Zackai, E.H.13
Shaikh, T.H.14
Geoghegan, J.15
Selzer, R.R.16
Eis, P.S.17
Bejjani, B.A.18
Shaffer, L.G.19
-
144
-
-
34447278070
-
Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation
-
DOI 10.1002/humu.20546
-
Ullmann, R., Turner, G., Kirchhoff, M., Chen, W., Tonge, B., Rosenberg, C., Field, M., Vianna-Morgante, A.M., Christie, L., Krepischi-Santos, A.C., Banna, L., Brereton, A.V., Hill, A., Bisgaard, A.M., Müller, I., Hultschig, C., Erdogan, F., Wieczorek, G., Ropers, H.H. (2007) Array CGH identifi es reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation. Hum Mutat 28, 674-82. (Pubitemid 47047294)
-
(2007)
Human Mutation
, vol.28
, Issue.7
, pp. 674-682
-
-
Ullmann, R.1
Turner, G.2
Kirchhoff, M.3
Chen, W.4
Tonge, B.5
Rosenberg, C.6
Field, M.7
Vianna-Morgante, A.M.8
Christie, L.9
Krepischi-Santos, A.C.10
Banna, L.11
Brereton, A.V.12
Hill, A.13
Bisgaard, A.-M.14
Muller, I.15
Hultschig, C.16
Erdogan, F.17
Wieczorek, G.18
Ropers, H.H.19
-
145
-
-
65949097704
-
Recurrent reciprocal deletions and duplications of 16p13.11: The deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant
-
Hannes, F.D., Sharp, A.J., Mefford, H.C., de Ravel, T., Ruivenkamp, C.A., Breuning, M.H., Fryns, J.P., Devriendt, K., Van Buggenhout, G., Vogels, A., Stewart, H.H., Hennekam, R.C., Cooper, G.M., Regan, R., Knight, S.J., Eichler, E.E., Vermeesch, J.R. (2008) Recurrent reciprocal deletions and duplications of 16p13.11: The deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant. J Med Genet 46, 223-32.
-
(2008)
J Med Genet
, vol.46
, pp. 223-32
-
-
Hannes, F.D.1
Sharp, A.J.2
Mefford, H.C.3
De Ravel, T.4
Ruivenkamp, C.A.5
Breuning, M.H.6
Fryns, J.P.7
Devriendt, K.8
Van Buggenhout, G.9
Vogels, A.10
Stewart, H.H.11
Hennekam, R.C.12
Cooper, G.M.13
Regan, R.14
Knight, S.J.15
Eichler, E.E.16
Vermeesch, J.R.17
-
146
-
-
69749104320
-
A method for rapid, targeted CNV genotyping identifi es rare variants associated with neurocognitive disease
-
Mefford, H.C., Cooper, G.M., Zerr, T., Smith, J.D., Baker, C., Shafer, N., Thorland, E.C., Skinner, C., Schwartz, C.E., Nickerson, D.A., Eichler, E.E. (2009) A method for rapid, targeted CNV genotyping identifi es rare variants associated with neurocognitive disease. Genome Res 19, 1579-85.
-
(2009)
Genome Res
, vol.19
, pp. 1579-85
-
-
Mefford, H.C.1
Cooper, G.M.2
Zerr, T.3
Smith, J.D.4
Baker, C.5
Shafer, N.6
Thorland, E.C.7
Skinner, C.8
Schwartz, C.E.9
Nickerson, D.A.10
Eichler, E.E.11
-
147
-
-
35348827304
-
Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy
-
DOI 10.1086/522591
-
Mefford, H.C., Clauin, S., Sharp, A.J., Moller, R.S., Ullmann, R., Kapur, R., Pinkel, D., Cooper, G.M., Ventura, M., Ropers, H.H., Tommerup, N., Eichler, E.E., Bellanne-Chantelot, C. (2007) Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy. Am J Hum Genet 81, 1057-69. (Pubitemid 47580257)
-
(2007)
American Journal of Human Genetics
, vol.81
, Issue.5
, pp. 1057-1069
-
-
Mefford, H.C.1
Clauin, S.2
Sharp, A.J.3
Moller, R.S.4
Ullmann, R.5
Kapur, R.6
Pinkel, D.7
Cooper, G.M.8
Ventura, M.9
Ropers, H.H.10
Tommerup, N.11
Eichler, E.E.12
Bellanne-Chantelot, C.13
-
148
-
-
77149134317
-
Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12
-
Sreenath Nagamani, S.C., Erez, A., Shen, J., Li, C., Roeder, E., Cox, S., Karaviti, L., Pearson, M., Kang, S.-H.L., Sahoo, T., Lalani, S.R., Stankiewicz, P., Sutton, V.R., Cheung, SW. (2010) Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12. Eur J Hum Genet 18, 278-84.
-
(2010)
Eur J Hum Genet
, vol.18
, pp. 278-84
-
-
Sreenath Nagamani, S.C.1
Erez, A.2
Shen, J.3
Li, C.4
Roeder, E.5
Cox, S.6
Karaviti, L.7
Pearson, M.8
Kang, S.-H.L.9
Sahoo, T.10
Lalani, S.R.11
Stankiewicz, P.12
Sutton, V.R.13
Cheung, S.W.14
-
149
-
-
33748323156
-
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism
-
DOI 10.1038/ng1853, PII NG1853
-
Koolen DA, Vissers LE, Pfundt R, de Leeuw N, Knight SJ, Regan R, Kooy RF, Reyniers E, Romano C, Fichera M, Schinzel A, Baumer A, Anderlid BM, Schoumans J, Knoers NV, van Kessel AG, Sistermans EA, Veltman JA, Brunner HG, de Vries BB. (2006) A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat Genet 38, 999-1001. (Pubitemid 44325923)
-
(2006)
Nature Genetics
, vol.38
, Issue.9
, pp. 999-1001
-
-
Koolen, D.A.1
Vissers, L.E.L.M.2
Pfundt, R.3
De Leeuw, N.4
Knight, S.J.5
Regan, R.6
Kooy, R.F.7
Reyniers, E.8
Romano, C.9
Fichera, M.10
Schinzel, A.11
Baumer, A.12
Anderlid, B.-M.13
Schoumans, J.14
Knoers, N.V.15
Van Kessel, A.G.16
Sistermans, E.A.17
Veltman, J.A.18
Brunner, H.G.19
De Vries, B.B.A.20
more..
-
150
-
-
33748300645
-
Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability
-
DOI 10.1038/ng1858, PII NG1858
-
Shaw-Smith, C., Pittman, A.M., Willatt, L., Martin, H., Rickman, L., Gribble, S., Curley, R., Cumming, S., Dunn, C., Kalaitzopoulos, D., Porter, K., Prigmore, E., Krepischi-Santos, A.C., Varela, M.C., Koiffmann, C.P., Lees, A.J., Rosenberg, C., Firth, H.V., de Silva, R., Carter, N.P. (2006) Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability. Nat Genet 38, 1032-7. (Pubitemid 44325928)
-
(2006)
Nature Genetics
, vol.38
, Issue.9
, pp. 1032-1037
-
-
Shaw-Smith, C.1
Pittman, A.M.2
Willatt, L.3
Martin, H.4
Rickman, L.5
Gribble, S.6
Curley, R.7
Cumming, S.8
Dunn, C.9
Kalaitzopoulos, D.10
Porter, K.11
Prigmore, E.12
Krepischi-Santos, A.C.V.13
Varela, M.C.14
Koiffmann, C.P.15
Lees, A.J.16
Rosenberg, C.17
Firth, H.V.18
De Silva, R.19
Carter, N.P.20
more..
-
151
-
-
68049125085
-
17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction
-
Grisart, B., Willatt, L., Destrée, A., Fryns, J.P., Rack, K., de Ravel, T., Rosenfeld, J., Vermeesch, J.R., Verellen-Dumoulin, C., Sandford, R. (2009) 17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction. J Med Genet 46, 524-30.
-
(2009)
J Med Genet
, vol.46
, pp. 524-30
-
-
Grisart, B.1
Willatt, L.2
Destrée, A.3
Fryns, J.P.4
Rack, K.5
De Ravel, T.6
Rosenfeld, J.7
Vermeesch, J.R.8
Verellen-Dumoulin, C.9
Sandford, R.10
-
152
-
-
77649237272
-
Identifi cation of a recurrent microdeletion on 17q23.1q23.2 fl anked by segmental duplications associated with heart defects and limb abnormalities
-
Ballif, B.C., Theisen, A., Rosenfeld, J.A., Traylor, R., Gastier-Foster, J., Thrush, L.D., Astbury, C., Bartholomew, D., McBride, K., Pyatt, R., Shane, K., Smith, W.E., Banks, V., Gallentine, W.B., Brock, P., Rudd, M.K., Adam, M.P., Keene, J.A., Phillips III, J.A., Pfotenhauer, J.P., Gowans, G.C., Stankiewicz, P., Bejjani, B.A., Shaffer, L.G. (2010) Identifi cation of a recurrent microdeletion on 17q23.1q23.2 fl anked by segmental duplications associated with heart defects and limb abnormalities. Am J Hum Genet 86, 454-61.
-
(2010)
Am J Hum Genet
, vol.86
, pp. 454-61
-
-
Ballif, B.C.1
Theisen, A.2
Rosenfeld, J.A.3
Traylor, R.4
Gastier-Foster, J.5
Thrush, L.D.6
Astbury, C.7
Bartholomew, D.8
McBride, K.9
Pyatt, R.10
Shane, K.11
Smith, W.E.12
Banks, V.13
Gallentine, W.B.14
Brock, P.15
Rudd, M.K.16
Adam, M.P.17
Keene, J.A.18
Phillips Iii, J.A.19
Pfotenhauer, J.P.20
Gowans, G.C.21
Stankiewicz, P.22
Bejjani, B.A.23
Shaffer, L.G.24
more..
-
153
-
-
38749129175
-
22q11.2 distal deletion: A recurrent genomic disorder distinct from digeorge syndrome and velocardiofacial syndrome
-
DOI 10.1016/j.ajhg.2007.09.014, PII S0002929707000201
-
Ben-Shachar, S., Ou, Z., Shaw, C.A., Belmont, J.W., Patel, M.S., Hummel, M., Amato, S., Tartaglia, N., Berg, J., Sutton, V.R., Lalani, S.R., Chinault, A.C., Cheung, S.W., Lupski, J.R., Patel, A. (2008) 22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome. Am J Hum Genet 82, 214-21. (Pubitemid 351726089)
-
(2008)
American Journal of Human Genetics
, vol.82
, Issue.1
, pp. 214-221
-
-
Ben-Shachar, S.1
Ou, Z.2
Shaw, C.A.3
Belmont, J.W.4
Patel, M.S.5
Hummel, M.6
Amato, S.7
Tartaglia, N.8
Berg, J.9
Sutton, V.R.10
Lalani, S.R.11
Chinault, A.12
Cheung, S.W.13
Lupski, J.R.14
Patel, A.15
-
154
-
-
45349105098
-
Deletion 22q13.3 syndrome
-
Phelan, M.C. (2008) Deletion 22q13.3 syndrome. Orphanet J Rare Dis 3, 14.
-
(2008)
Orphanet J Rare Dis
, vol.3
, pp. 14
-
-
Phelan, M.C.1
-
155
-
-
69649094812
-
Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females
-
Giorda, R., Bonaglia, M.C., Beri, S., Fichera, M., Novara, F., Magini, P., Urquhart, J., Sharkey, F.H., Zucca, C., Grasso, R., Marelli, S., Castiglia, L., Di Benedetto, D., Musumeci, S.A., Vitello, G.A., Failla, P., Reitano, S., Avola, E., Bisulli, F., Tinuper, P., Mastrangelo, M., Fiocchi, I., Spaccini, L., Torniero, C., Fontana, E., Lynch, S.A., Clayton-Smith, J., Black, G., Jonveaux, P., Leheup, B., Seri, M., Romano, C., dalla Bernardina, B., Zuffardi, O. (2009) Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females. Am J Hum Genet 85, 394-400.
-
(2009)
Am J Hum Genet
, vol.85
, pp. 394-400
-
-
Giorda, R.1
Bonaglia, M.C.2
Beri, S.3
Fichera, M.4
Novara, F.5
Magini, P.6
Urquhart, J.7
Sharkey, F.H.8
Zucca, C.9
Grasso, R.10
Marelli, S.11
Castiglia, L.12
Di Benedetto, D.13
Musumeci, S.A.14
Vitello, G.A.15
Failla, P.16
Reitano, S.17
Avola, E.18
Bisulli, F.19
Tinuper, P.20
Mastrangelo, M.21
Fiocchi, I.22
Spaccini, L.23
Torniero, C.24
Fontana, E.25
Lynch, S.A.26
Clayton-Smith, J.27
Black, G.28
Jonveaux, P.29
Leheup, B.30
Seri, M.31
Romano, C.32
Dalla Bernardina, B.33
Zuffardi, O.34
more..
-
156
-
-
34548691008
-
The discovery of microdeletion syndromes in the post-genomic era: Review of the methodology and characterization of a new 1q41q42 microdeletion syndrome
-
DOI 10.1097/GIM.0b013e3181484b49, PII 0012581720070900000008
-
Shaffer, L.G., Theisen, A., Bejjani, B.A., Ballif, B.C., Aylsworth, A.S., Lim, C., McDonald, M., Ellison, J.W., Kostiner, D., Saitta, S., Shaikh, T. (2007) The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome. Genet Med 9, 607-16. (Pubitemid 47415270)
-
(2007)
Genetics in Medicine
, vol.9
, Issue.9
, pp. 607-616
-
-
Shaffer, L.G.1
Theisen, A.2
Bejjani, B.A.3
Ballif, B.C.4
Aylsworth, A.S.5
Lim, C.6
McDonald, M.7
Ellison, J.W.8
Kostiner, D.9
Saitta, S.10
Shaikh, T.11
-
157
-
-
34547786100
-
Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum
-
DOI 10.1086/519999
-
Boland, E., Clayton-Smith, J., Woo, V.G., McKee, S., Manson, F.D., Medne, L., Zackai, E., Swanson, E.A., Fitzpatrick, D., Millen, K.J., Sherr, E.H., Dobyns, W.B., Black, G.C. (2007) Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum. Am J Hum Genet 81, 292-303. (Pubitemid 47236077)
-
(2007)
American Journal of Human Genetics
, vol.81
, Issue.2
, pp. 292-303
-
-
Boland, E.1
Clayton-Smith, J.2
Woo, V.G.3
McKee, S.4
Manson, F.D.C.5
Medne, L.6
Zackai, E.7
Swanson, E.A.8
Fitzpatrick, D.9
Millen, K.J.10
Sherr, E.H.11
Dobyns, W.B.12
Black, G.C.M.13
-
158
-
-
74449084036
-
The 2q23.1 microdeletion syndrome: Clinical and behavioural phenotype
-
van Bon BW, Koolen DA, Brueton L, McMullan D, Lichtenbelt KD, Ads LC, Peters G, Gibson K, Novara F, Pramparo T, Dalla Bernardina B, Zoccante L, Balottin U, Piazza F, Pecile V, Gasparini P, Guerci V, Kets M, Pfundt R, de Brouwer AP, Veltman JA, de Leeuw N, Wilson M, Antony J, Reitano S, Luciano D, Fichera M, Romano C, Brunner HG, Zuffardi O, de Vries BB. (2010) The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype. Eur J Hum Genet 18, 163-70.
-
(2010)
Eur J Hum Genet
, vol.18
, pp. 163-70
-
-
Van Bon, B.W.1
Koolen, D.A.2
Brueton, L.3
McMullan, D.4
Lichtenbelt, K.D.5
Ads, L.C.6
Peters, G.7
Gibson, K.8
Novara, F.9
Pramparo, T.10
Dalla Bernardina, B.11
Zoccante, L.12
Balottin, U.13
Piazza, F.14
Pecile, V.15
Gasparini, P.16
Guerci, V.17
Kets, M.18
Pfundt, R.19
De Brouwer, A.P.20
Veltman, J.A.21
De Leeuw, N.22
Wilson, M.23
Antony, J.24
Reitano, S.25
Luciano, D.26
Fichera, M.27
Romano, C.28
Brunner, H.G.29
Zuffardi, O.30
De Vries, B.B.31
more..
-
159
-
-
74549139226
-
MEF2C haploinsuffi-ciency caused either by microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations
-
Le Meur, N., Holder-Espinasse, M., Jaillard, S., Goldenberg, A., Joriot, S., Amati-Bonneau, P., Guichet, A., Barth, M., Charollais, A., Journel, H., Auvin, S., Boucher, C., Kerckaert, J.-P., David, V., Manouvrier-Hanu, S., Saugier-Veber, P., Frébourg, T., Dubourg, C., Andrieux, J., Bonneau, D. (2009) MEF2C haploinsuffi -ciency caused either by microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations. J Med Genet 47, 22-9.
-
(2009)
J Med Genet
, vol.47
, pp. 22-29
-
-
Le Meur, N.1
Holder-Espinasse, M.2
Jaillard, S.3
Goldenberg, A.4
Joriot, S.5
Amati-Bonneau, P.6
Guichet, A.7
Barth, M.8
Charollais, A.9
Journel, H.10
Auvin, S.11
Boucher, C.12
Kerckaert, J.-P.13
David, V.14
Manouvrier-Hanu, S.15
Saugier-Veber, P.16
Frébourg, T.17
Dubourg, C.18
Andrieux, J.19
Bonneau, D.20
more..
-
160
-
-
33746563985
-
Loss-of-function mutations in Euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome
-
DOI 10.1086/505693
-
Kleefstra, T., Brunner, H. G., Amiel, J., Oudakker, A. R., Nillesen, W. M., Magee, A., Genevieve, D., Cormier-Daire, V., van Esch, H., Fryns, J. P., Hamel, B. C. J., Sistermans, E. A., de Vries, B. B. A., van Bokhoven, H. (2006) Loss-of-function mutations in Euchromatin histone methyl transferase 1 ( EHMT1 ) cause the 9q34 subtelomeric deletion syndrome. Am J Hum Genet 79, 370-7. (Pubitemid 44141836)
-
(2006)
American Journal of Human Genetics
, vol.79
, Issue.2
, pp. 370-377
-
-
Kleefstra, T.1
Brunner, H.G.2
Amiel, J.3
Oudakker, A.R.4
Nillesen, W.M.5
Magee, A.6
Genevieve, D.7
Cormier-Daire, V.8
Van Esch, H.9
Fryns, J.-P.10
Hamel, B.C.J.11
Sistermans, E.A.12
De Vries, B.B.A.13
Van Bokhoven, H.14
-
161
-
-
46149122036
-
FOXG1 is responsible for the congenital variant of Rett syndrome
-
Ariani, F., Hayek, G., Rondinella, D., Artuso, R., Mencarelli, M.A., Spanhol-Rosseto, A., Pollazzon, M., Buoni, S., Spiga, O., Ricciardi, S., Meloni, I., Longo, I., Mari, F., Broccoli, V., Zappella, M., Renieri, A. (2008) FOXG1 is responsible for the congenital variant of Rett syndrome. Am J Hum Genet 83, 89-93.
-
(2008)
Am J Hum Genet
, vol.83
, pp. 89-93
-
-
Ariani, F.1
Hayek, G.2
Rondinella, D.3
Artuso, R.4
Mencarelli, M.A.5
Spanhol-Rosseto, A.6
Pollazzon, M.7
Buoni, S.8
Spiga, O.9
Ricciardi, S.10
Meloni, I.11
Longo, I.12
Mari, F.13
Broccoli, V.14
Zappella, M.15
Renieri, A.16
-
162
-
-
33845889998
-
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders
-
DOI 10.1038/ng1933, PII NG1933
-
Durand, C. M., Betancur, C., Boeckers, T. M., Bockmann, J., Chaste, P., Fauchereau, F., Nygren, G., Rastam, M., Gillberg, I. C., Anckarsater, H., Sponheim, E., Goubran-Botros, H., Delorme, R., Chabane, N., Mouren-Simeoni, M.C., de Mas, P., Bieth, E., Rogé, B., Héron, D., Burglen, L., Gillberg, C., Leboyer, M., Bourgeron, T. (2007) Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet 39, 25-7. (Pubitemid 46026497)
-
(2007)
Nature Genetics
, vol.39
, Issue.1
, pp. 25-27
-
-
Durand, C.M.1
Betancur, C.2
Boeckers, T.M.3
Bockmann, J.4
Chaste, P.5
Fauchereau, F.6
Nygren, G.7
Rastam, M.8
Gillberg, I.C.9
Anckarsater, H.10
Sponheim, E.11
Goubran-Botros, H.12
Delorme, R.13
Chabane, N.14
Mouren-Simeoni, M.-C.15
De Mas, P.16
Bieth, E.17
Roge, B.18
Heron, D.19
Burglen, L.20
Gillberg, C.21
Leboyer, M.22
Bourgeron, T.23
more..
-
163
-
-
0033127026
-
A Microdeletion within DAX-1 in X-Linked Adrenal Hypoplasia Congenita and Hypogonadotrophic Hypogonadism
-
Wang, J., Killinger, D. W., Hegele, R. A. (1999) A microdeletion within DAX-1 in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism. J Invest Med 47, 232-5. (Pubitemid 129576368)
-
(1999)
Journal of Investigative Medicine
, vol.47
, Issue.5
, pp. 232-235
-
-
Wang, J.1
Killinger, D.W.2
Hegele, R.A.3
-
164
-
-
0027957103
-
A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal
-
DOI 10.1038/ng0894-497
-
Bardoni, B., Zanaria, E., Guioli, S., Floridia, G., Worley, K.C., Tonini, G., Ferrante, E., Chiumello, G., McCabe, E.R., Fraccaro, M., Zuffardi, O., Camerino, G. (1994) A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal. Nat Genet 7, 497-501. (Pubitemid 24308336)
-
(1994)
Nature Genetics
, vol.7
, Issue.4
, pp. 497-501
-
-
Bardoni, B.1
Zanaria, E.2
Guioli, S.3
Floridia, G.4
Worley, K.C.5
Tonini, G.6
Ferrante, E.7
Chiumello, G.8
McCabe, E.R.B.9
Fraccaro, M.10
Zuffardi, O.11
Camerino, G.12
-
165
-
-
0038875342
-
Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1
-
Li, L., Krantz, I. D., Deng, Y., Genin, A., Banta, A. B., Collins, C. C., Qi, M., Trask, B. J., Kuo, W. L., Cochran, J., Costa, T., Pierpont, M.E., Rand, E.B., Piccoli, D. A., Hood, L., Spinner, N. B. (1997) Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. Nat Genet 16, 243-51.
-
(1997)
Nat Genet
, vol.16
, pp. 243-51
-
-
Li, L.1
Krantz, I.D.2
Deng, Y.3
Genin, A.4
Banta, A.B.5
Collins, C.C.6
Qi, M.7
Trask, B.J.8
Kuo, W.L.9
Cochran, J.10
Costa, T.11
Pierpont, M.E.12
Rand, E.B.13
Piccoli, D.A.14
Hood, L.15
Spinner, N.B.16
-
166
-
-
0043267988
-
GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5
-
DOI 10.1038/nature01827
-
Garg, V., Kathiriya, I. S., Barnes, R., Schluterman, M. K., King, I. N., Butler, C. A., Rothrock, C. R., Eapen, R. S., Hirayama-Yamada, K., Joo, K., Matsuoka, R., Cohen, J. C., Srivastava, D. (2003) GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. Nature 424, 443-7. (Pubitemid 36917494)
-
(2003)
Nature
, vol.424
, Issue.6947
, pp. 443-447
-
-
Garg, V.1
Kathiriya, I.S.2
Barnes, R.3
Schluterman, M.K.4
King, I.N.5
Butler, C.A.6
Rothrock, C.R.7
Eapen, R.S.8
Hirayama-Yamada, K.9
Joo, K.10
Matsuoka, R.11
Cohen, J.C.12
Srivastava, D.13
-
167
-
-
0029790437
-
Molecular analysis of chromosome 9q deletions in two Gorlin syndrome patients
-
Shimkets, R., Gailani, M. R., Siu, V. M., Yang-Feng, T., Pressman, C. L., Levanat, S., Goldstein, A., Dean, M., Bale, A. E. (1996) Molecular analysis of chromosome 9q deletions in two Gorlin syndrome patients. Am J Hum Genet 59, 417-22. (Pubitemid 26266358)
-
(1996)
American Journal of Human Genetics
, vol.59
, Issue.2
, pp. 417-422
-
-
Shimkets, R.1
Gailani, M.R.2
Siu, V.M.3
Yang-Feng, T.4
Pressman, C.L.5
Levanat, S.6
Goldstein, A.7
Dean, M.8
Bale, A.E.9
-
168
-
-
2642566992
-
Branchio-oto-renal syndrome: The mutation spectrum in EYA1 and its phenotypic consequences
-
DOI 10.1002/humu.20048
-
Chang, E.H., Menezes, M., Meyer, N.C., Cucci, R.A., Vervoort, V.S., Schwartz, C.E., Smith, R.J. (2004) Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences. Hum Mutat 23, 582-9. (Pubitemid 38720610)
-
(2004)
Human Mutation
, vol.23
, Issue.6
, pp. 582-589
-
-
Chang, E.H.1
Menezes, M.2
Meyer, N.C.3
Cucci, R.A.4
Vervoort, V.S.5
Schwartz, C.E.6
Smith, R.J.H.7
-
169
-
-
13544274478
-
Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis
-
DOI 10.1038/ng1453
-
Hellemans, J., Preobrazhenska, O., Willaert, A., Debeer, P., Verdonk, P. C. M., Costa, T., Janssens, K., Menten, B., Van Roy, N., Vermeulen, S. J. T., Savarirayan, R., Van Hul, W., Vanhoenacker, F., Huylebroeck, D., De Paepe, A., Naeyaert, J.M., Vandesompele, J., Speleman, F., Verschueren, K., Coucke, P.J., Mortier, G.R. (2004) Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. Nat Genet 36, 1213-8. (Pubitemid 41288972)
-
(2004)
Nature Genetics
, vol.36
, Issue.11
, pp. 1213-1218
-
-
Hellemans, J.1
Preobrazhenska, O.2
Willaert, A.3
Debeer, P.4
Verdonk, P.C.M.5
Costa, T.6
Janssens, K.7
Menten, B.8
Van Roy, N.9
Vermeulen, S.J.T.10
Savarirayan, R.11
Van Hu, W.12
Vanhoenacker, F.13
Huylebroeck, D.14
De Paepe, A.15
Naeyaert, J.-M.16
Vandesompele, J.17
Speleman, F.18
Verschueren, K.19
Coucke, P.J.20
Mortier, G.R.21
more..
-
170
-
-
0028589588
-
Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9
-
Wagner, T., Wirth, J., Meyer, J., Zabel, B., Held, M., Zimmer, J., Pasantes, J., Dagna Bricarelli, F., Keutel, J., Hustert, E., Wolf, U., Tommerup, N., Schempp, W., Scherer, G. (1994) Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9. Cell 79, 1111-20.
-
(1994)
Cell
, vol.79
, pp. 1111-20
-
-
Wagner, T.1
Wirth, J.2
Meyer, J.3
Zabel, B.4
Held, M.5
Zimmer, J.6
Pasantes, J.7
Dagna Bricarelli, F.8
Keutel, J.9
Hustert, E.10
Wolf, U.11
Tommerup, N.12
Schempp, W.13
Scherer, G.14
-
171
-
-
0022479573
-
Characterization of the supernumerary chromosome in cat eye syndrome
-
McDermid, H.E., Duncan, A.M.V., Brasch, K.R., Holden, J.J.A., Magenis, E., Sheehy, R., Burn, J., Kardon, N., Noel, B., Schinzel, A., Teshima, I., White, B.N. (1986) Characterization of the supernumerary chromosome in cat eye syndrome. Science 232, 646-8. (Pubitemid 16061976)
-
(1986)
Science
, vol.232
, Issue.4750
, pp. 646-648
-
-
McDermid, H.E.1
Duncan, A.M.V.2
Brasch, K.R.3
-
172
-
-
15444351110
-
Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia
-
Mundlos, S., Otto, F., Mundlos, C., Mulliken, J.B., Aylsworth, A.S., Albright, S., Lindhout, D., Cole, W.G., Henn, W., Knoll, J.H.M., Owen, M.J., Mertelsmann, R., Zabel, B.U., Olsen, B.R. (1997) Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. Cell 89, 773-9. (Pubitemid 27516180)
-
(1997)
Cell
, vol.89
, Issue.5
, pp. 773-779
-
-
Mundlos, S.1
Otto, F.2
Mundlos, C.3
Mulliken, J.B.4
Aylsworth, A.S.5
Albright, S.6
Lindhout, D.7
Cole, W.G.8
Henn, W.9
Knoll, J.H.M.10
Owen, M.J.11
Mertelsmann, R.12
Zabel, B.U.13
Olsen, B.R.14
-
173
-
-
20244372562
-
Congenital diaphragmatic hernia and chromosome 15q26: Determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization
-
DOI 10.1086/429842
-
Klaassens, M., van Dooren, M., Eussen, H.J., Douben, H., den Dekker, A.T., Lee, C., Donahoe, P.K., Galjaard, R.J., Goemaere, N., de Krijger, R.R., Wouters, C., Wauters, J., Oostra, B.A., Tibboel, D., de Klein, A. (2005) Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization. Am J Hum Genet 76, 877-82. (Pubitemid 40563108)
-
(2005)
American Journal of Human Genetics
, vol.76
, Issue.5
, pp. 877-882
-
-
Klaassens, M.1
Van Dooren, M.2
Eussen, H.J.3
Douben, H.4
Den Dekker, A.T.5
Lee, C.6
Donahoe, P.K.7
Galjaard, R.J.8
Goemaere, N.9
De Krijger, R.R.10
Wouters, C.11
Wauters, J.12
Oostra, B.A.13
Tibboel, D.14
De Klein, A.15
-
174
-
-
8544247944
-
Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease
-
DOI 10.1093/hmg/6.8.1383
-
Nelen, M.R., van Staveren, W.C.G., Peeters, E.A.J., Ben Hassel, M., Gorlin, R.J., Hamm, H., Lindboe, C.F., Fryns, J.-P., Sijmons, R.H., Woods, D.G., Mariman, E.C.M., Padberg, G.W., Kremer, H. (1997) Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. Hum Mol Genet 6, 1383-7. (Pubitemid 27351082)
-
(1997)
Human Molecular Genetics
, vol.6
, Issue.8
, pp. 1383-1387
-
-
Nelen, M.R.1
Van Staveren, W.C.G.2
Peeters, E.A.J.3
Hassel, M.B.4
Gorlin, R.J.5
Hamm, H.6
Lindboe, C.F.7
Fryns, J.-P.8
Sijmons, R.H.9
Woods, D.G.10
Mariman, E.C.M.11
Padberg, G.W.12
Kremer, H.13
-
175
-
-
0035078603
-
Clinical and molecular characterisation of 80 patients with 5p deletion: Genotype-phenotype correlation
-
Mainardi, P.C., Perfumo, C., Cali, A., Coucourde, G., Pastore, G., Cavani, S., Zara, F., Overhauser, J., Pierluigi, M., Bricarelli, F.D. (2001) Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation. J Med Genet 38, 151-8. (Pubitemid 32250865)
-
(2001)
Journal of Medical Genetics
, vol.38
, Issue.3
, pp. 151-158
-
-
Mainardi, P.C.1
Perfumo, C.2
Cali, A.3
Coucourde, G.4
Pastore, G.5
Cavani, S.6
Zara, F.7
Overhauser, J.8
Pierluigi, M.9
Bricarelli, F.D.10
-
176
-
-
0033926438
-
Involvement of the HLXB9 homeobox gene in Currarino syndrome [2]
-
DOI 10.1086/302723
-
Belloni E, Martucciello G, Verderio D, Ponti E, Seri M, Jasonni V, Torre M, Ferrari M, Tsui LC, Scherer SW. (2000) Involvement of the HLXB9 homeobox gene in Currarino syndrome. Am J Hum Genet 66, 312-9 (Pubitemid 30481492)
-
(2000)
American Journal of Human Genetics
, vol.66
, Issue.1
, pp. 312-319
-
-
Belloni, E.1
Martucciello, G.2
Verderio, D.3
Ponti, E.4
Seri, M.5
Jasonni, V.6
Torre, M.7
Ferrari, M.8
Tsui, L.-C.9
Scherer, S.W.10
-
177
-
-
0036848353
-
Okihiro syndrome is caused by SALL4 mutations
-
Kohlhase, J., Heinrich, M., Schubert, L., Liebers, M., Kispert, A., Laccone, F., Turnpenny, P., Winter, R.M., Reardon, W. (2002) Okihiro syndrome is caused by SALL4 mutations. Hum Mol Genet 11, 2979-87.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 2979-87
-
-
Kohlhase, J.1
Heinrich, M.2
Schubert, L.3
Liebers, M.4
Kispert, A.5
Laccone, F.6
Turnpenny, P.7
Winter, R.M.8
Reardon, W.9
-
178
-
-
0024815723
-
Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications
-
den Dunnen, J.T., Grootscholten, P.M., Bakker, E., Blonden, L.A.J., Ginjaar, H.B., Wapenaar, M.C., van Paassen, H.M.B., van Broeckhoven, C., Pearson, P.L., van Ommen, G.J.B. (1989) Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications. Am J Hum Genet 45, 835-47. (Pubitemid 20045225)
-
(1989)
American Journal of Human Genetics
, vol.45
, Issue.6
, pp. 835-847
-
-
Den Dunnen, J.T.1
Grootscholten, P.M.2
Bakker, E.3
Blonden, L.A.J.4
Ginjaar, H.B.5
Wapenaar, M.C.6
Van Paassen, H.M.B.7
Van Broeckhoven, C.8
Pearson, P.L.9
Van Ommen, G.J.B.10
-
179
-
-
79958097474
-
Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder
-
Erez, A., Patel, A. J., Wang, X., Xia, Z., Bhatt, S. S., Craigen, W., Cheung, S. W., Lewis, R. A., Fang, P., Davenport, S. L. H., Stankiewicz, P., Lalani, S. R. (2009) Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder. Neurogenetics 10, 363-9.
-
(2009)
Neurogenetics
, vol.10
, pp. 363-9
-
-
Erez, A.1
Patel, A.J.2
Wang, X.3
Xia, Z.4
Bhatt, S.S.5
Craigen, W.6
Cheung, S.W.7
Lewis, R.A.8
Fang, P.9
Davenport, S.L.H.10
Stankiewicz, P.11
Lalani, S.R.12
-
180
-
-
34347341670
-
Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia
-
DOI 10.1038/ng2057, PII NG2057
-
Wang, X., Reid Sutton, V., Omar Peraza-Llanes, J., Yu, Z., Rosetta, R., Kou, Y.C., Eble, T.N., Patel, A., Thaller, C., Fang, P., Van den Veyver, I.B. (2007) Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia. Nat Genet 39, 836-8. (Pubitemid 47014493)
-
(2007)
Nature Genetics
, vol.39
, Issue.7
, pp. 836-838
-
-
Wang, X.1
Reid Sutton, V.2
Omar Peraza-Llanes, J.3
Yu, Z.4
Rosetta, R.5
Kou, Y.-C.6
Eble, T.N.7
Patel, A.8
Thaller, C.9
Fang, P.10
Van Den Veyver, I.B.11
-
181
-
-
34347326153
-
Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia
-
DOI 10.1038/ng2052, PII NG2052
-
Grzeschik, K.H., Bornholdt, D., Oeffner, F., König, A., del Carmen Boente, M., Enders, H., Fritz, B., Hertl, M., Grasshoff, U., Höfl ing, K., Oji, V., Paradisi, M., Schuchardt, C., Szalai, Z., Tadini, G., Traupe, H.,
-
(2007)
Nature Genetics
, vol.39
, Issue.7
, pp. 833-835
-
-
Grzeschik, K.-H.1
Bornholdt, D.2
Oeffner, F.3
Konig, A.4
Del Carmen Boente, M.5
Enders, H.6
Fritz, B.7
Hertl, M.8
Grasshoff, U.9
Hofling, K.10
Oji, V.11
Paradisi, M.12
Schuchardt, C.13
Szalai, Z.14
Tadini, G.15
Traupe, H.16
Happle, R.17
-
182
-
-
0025812172
-
GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families
-
Vortkamp, A., Gessler, M., Grzeschik, K.-H. (1991) GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families. Nature 352, 539-40. (Pubitemid 21912379)
-
(1991)
Nature
, vol.352
, Issue.6335
, pp. 539-540
-
-
Vortkamp, A.1
Gessler, M.2
Grzeschik, K.-H.3
-
183
-
-
0030636780
-
Mutations in human cause limb and cardiac malformation in Holt-Oram syndrome
-
Basson, C. T., Bachinsky, D. R., Lin, R. C., Levi, T., Elkins, J. A., Soults, J., Grayzel, D., Kroumpouzou, E., Traill, T. A., Leblanc-Straceski, J., Renault, B., Kucherlapati, R., Seidman, J. G., Seidman, C. E. (1997) Mutations in human cause limb and cardiac malformation in Holt-Oram syndrome. Nat Genet 15, 30-5.
-
(1997)
Nat Genet
, vol.15
, pp. 30-5
-
-
Basson, C.T.1
Bachinsky, D.R.2
Lin, R.C.3
Levi, T.4
Elkins, J.A.5
Soults, J.6
Grayzel, D.7
Kroumpouzou, E.8
Traill, T.A.9
Leblanc-Straceski, J.10
Renault, B.11
Kucherlapati, R.12
Seidman, J.G.13
Seidman, C.E.14
-
184
-
-
0034721115
-
GATA3 haplo-insufficiency causes human HDR syndrome
-
DOI 10.1038/35019088
-
Van Esch, H., Groenen, P., Nesbit, M.A., Schuffenhauer, S., Lichtner, P., Vanderlinden, G., Harding, B., Beetz, R., Bilous, R.W., Holdaway, I., Shaw, N.J., Fryns, J.P., Van de Ven, W., Thakker, R.V., Devriendt, K. (2000) GATA3 haplo-insuffi ciency causes human HDR syndrome. Nature 406, 419-22. (Pubitemid 30625562)
-
(2000)
Nature
, vol.406
, Issue.6794
, pp. 419-422
-
-
Van Esch, H.1
Groenen, P.2
Nesbit, M.A.3
Schuffenhauer, S.4
Lichtner, P.5
Vanderlinden, G.6
Harding, B.7
Beetz, R.8
Bilous, R.W.9
Holdaway, I.10
Shaw, N.J.11
Fryns, J.-P.12
Van De Ven, W.13
Thakker, R.V.14
Devriendt, K.15
-
185
-
-
64149094521
-
Chromosomal microarray mapping suggests a role for BSX and neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome)
-
Coldren, C.D., Lai, Z., Shragg, P., Rossi, E., Glidewell, S.C., Zuffardi, O., Mattina, T., Ivy, D.D., Curfs, L.M., Mattson, S.N., Riley, E.P., Treier, M., Grossfeld, P.D. (2009) Chromosomal microarray mapping suggests a role for BSX and neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome). Neurogenetics 10, 89-95.
-
(2009)
Neurogenetics
, vol.10
, pp. 89-95
-
-
Coldren, C.D.1
Lai, Z.2
Shragg, P.3
Rossi, E.4
Glidewell, S.C.5
Zuffardi, O.6
Mattina, T.7
Ivy, D.D.8
Curfs, L.M.9
Mattson, S.N.10
Riley, E.P.11
Treier, M.12
Grossfeld, P.D.13
-
186
-
-
0022589841
-
X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadotropic hypogonadism and anosmia): linkage relationships with Xg and cloned DNA sequences from the distal short arm of the X chromosome
-
Ballabio, A., Parenti, G., Tippett, P., Mondello, C., Di Maio, S., Tenore, A., Andria,G. (1986) X-linked ichthyosis, due to steroid sulphatase defi ciency, associated with Kallmann syndrome (hypogonadotropic hypogonadism and anosmia): linkage relationships with Xg and cloned DNA sequences from the distal short arm of the X chromosome. Hum Genet 72, 237-40. (Pubitemid 16128859)
-
(1986)
Human Genetics
, vol.72
, Issue.3
, pp. 237-240
-
-
Ballabio, A.1
Parenti, G.2
Tippett, P.3
-
187
-
-
0035159093
-
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III
-
DOI 10.1086/316926
-
Ludecke, H. J., Schaper, J., Meinecke, P., Momeni, P., Gross, S., von Holtum, D., Hirche, H., Abramowicz, M. J., Albrecht, B., Apacik, C., Christen, H. J., Claussen, U Devriendt, K., Fastnacht, E., Forderer, A., Friedrich, U., Goodship, T.H., Greiwe, M., Hamm, H., Hennekam, R.C., Hinkel, G.K., Hoeltzenbein, M., Kayserili, H., Majewski, F., Mathieu, M., McLeod, R., Midro, A.T., Moog, U., Nagai, T., Niikawa, N., Orstavik, K.H., Plöchl, E., Seitz, C., Schmidtke, J., Tranebjaerg, L., Tsukahara, M., Wittwer, B., Zabel, B., Gillessen-Kaesbach, G., Horsthemke, B. (2001) Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. Am J Hum Genet 68, 81-91. (Pubitemid 32048363)
-
(2001)
American Journal of Human Genetics
, vol.68
, Issue.1
, pp. 81-91
-
-
Ludecke, H.-J.1
Schaper, J.2
Meinecke, P.3
Momeni, P.4
Gross, S.5
Von Holtum, D.6
Hirche, H.7
Abramowicz, M.J.8
Albrecht, B.9
Apacik, C.10
Christen, H.-J.11
Claussen, U.12
Devriendt, K.13
Fastnacht, E.14
Forderer, A.15
Friedrich, U.16
Goodship, T.H.J.17
Greiwe, M.18
Hamm, H.19
Hennekam, R.C.M.20
Hinkel, G.K.21
Hoeltzenbein, M.22
Kayserili, H.23
Majewski, F.24
Mathieu, M.25
McLeod, R.26
Midro, A.T.27
Moog, U.28
Nagai, T.29
Niikawa, N.30
Orstavik, K.H.31
Plochl, E.32
Seitz, C.33
Schmidtke, J.34
Tranebjaerg, L.35
Tsukahara, M.36
Wittwer, B.37
Zabel, B.38
Gillessen-Kaesbach, G.39
Horsthemke, B.40
more..
-
188
-
-
0030940217
-
Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome
-
Rao, E., Weiss, B., Fukami, M., Rump, A., Niesler, B., Mertz, A., Muroya, K., Binder, G., Kirsch, S., Winkelmann, M., Nordsiek, G., Heinrich, U., Breuning, M.H., Ranke, M.B., Rosenthal, A., Ogata, T., Rappold, G.A. (1997) Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet 16, 54-63. (Pubitemid 27198156)
-
(1997)
Nature Genetics
, vol.16
, Issue.1
, pp. 54-63
-
-
Rao, E.1
Weiss, B.2
Fukami, M.3
Rump, A.4
Niesler, B.5
Mertz, A.6
Muroya, K.7
Binder, G.8
Kirsch, S.9
Winkelmann, M.10
Nordsiek, G.11
Heinrich, U.12
Breuning, M.H.13
Ranke, M.B.14
Rosenthal, A.15
Ogata, T.16
Rappold, G.A.17
-
189
-
-
33746485559
-
Characterization of SHOX deletions in Léri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots
-
DOI 10.1086/506390
-
Benito-Sanz, S., Gorbenko del Blanco, D., Huber, C., Thomas, N.S., Aza-Carmona, M., Bunyan, D., Maloney, V., Argente, J., Cormier-Daire, V., Campos-Barros, A., Heath, K.E. (2006) Characterization of SHOX deletions in Leri-Weill Dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots. Am J Hum Genet 79, 409-14. (Pubitemid 44141842)
-
(2006)
American Journal of Human Genetics
, vol.79
, Issue.2
, pp. 409-414
-
-
Benito-Sanz, S.1
Del Blanco, D.G.2
Huber, C.3
Thomas, N.S.4
Aza-Carmona, M.5
Bunyan, D.6
Maloney, V.7
Argente, J.8
Cormier-Daire, V.9
Campos-Barros, A.10
Heath, K.E.11
-
190
-
-
17444444915
-
A novel CNS gene required for neuronal migration and involved in X- linked subcortical laminar heterotopia and lissencephaly syndrome
-
DOI 10.1016/S0092-8674(00)80898-3
-
des Portes, V., Pinard, J.M., Billuart, P., Vinet, M.C., Koulakoff, A., Carrie, A., Gelot, A., Dupuis, E., Motte, J., Berwald-Netter, Y., Catala, M., Kahn, A., Beldjord, C., Chelly, J. (1998) A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome. Cell 92, 51-61. (Pubitemid 28053297)
-
(1998)
Cell
, vol.92
, Issue.1
, pp. 51-61
-
-
Des Portes, V.1
Pinard, J.M.2
Billuart, P.3
Vinet, M.C.4
Koulakoff, A.5
Carrie, A.6
Gelot, A.7
Dupuis, E.8
Motte, J.9
Berwald-Netter, Y.10
Catala, M.11
Kahn, A.12
Beldjord, C.13
Chelly, J.14
-
191
-
-
0032498306
-
Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein
-
DOI 10.1016/S0092-8674(00)80899-5
-
Gleeson, J.G., Allen, K.M., Fox, J.W., Lamperti, E.D., Berkovic, S., Scheffer, I., Cooper, E.C., Dobyns, W.B., Minnerath, S.R., Ross, M.E., Walsh, C.A. (1998) Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein. Cell 92, 63-72. (Pubitemid 28053298)
-
(1998)
Cell
, vol.92
, Issue.1
, pp. 63-72
-
-
Gleeson, J.G.1
Allen, K.M.2
Fox, J.W.3
Lamperti, E.D.4
Berkovic, S.5
Scheffer, I.6
Cooper, E.C.7
Dobyns, W.B.8
Minnerath, S.R.9
Ross, M.E.10
Walsh, C.A.11
-
192
-
-
0033066987
-
XLMR syndrome characterized by multiple respiratory infections, hypertelorism, severe CNS deterioration and early death localizes to distal Xq28
-
DOI 10.1002/(SICI)1096-8628(19990730)85:3<243::AID-AJMG11>3.0.CO;2- E
-
Lubs, H., Abidi, F., Bier, J. A. B., Abuelo, D., Ouzts, L., Voeller, K., Fennell, E., Stevenson, R. E., Schwartz, C. E., Arena, F. (1999) XLMR syndrome characterized by multiple respiratory infections, hypertelorism, severe CNS deterioration and early death localizes to distal Xq28. Am J Med Genet 85, 243-8. (Pubitemid 29288317)
-
(1999)
American Journal of Medical Genetics
, vol.85
, Issue.3
, pp. 243-248
-
-
Lubs, H.1
Abidi, F.2
Bier, J.-A.B.3
Abuelo, D.4
Ouzts, L.5
Voeller, K.6
Fennell, E.7
Stevenson, R.E.8
Schwartz, C.E.9
Arena, F.10
-
193
-
-
0023807094
-
Microdeletion syndromes, balanced translocations, and gene mapping
-
Schinzel, A. (1988) Microdeletion syndromes, balanced translocations, and gene mapping. J Med Genet 25, 454-62.
-
(1988)
J Med Genet
, vol.25
, pp. 454-62
-
-
Schinzel, A.1
-
194
-
-
0035213144
-
Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures
-
DOI 10.1086/324342
-
Amiel, J., Espinosa-Parrilla, Y., Steffann, J., Gosset, P., Pelet, A., Prieur, M., Boute, O., Choiset, A., Lacombe, D., Philip, N., Le Merrer, M., Tanaka, H., Till, M., Touraine, R., Toutain, A., Vekemans, M., Munnich, A., Lyonnet, S. (2001) Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures. Am J Hum Genet 69, 1370-7. (Pubitemid 33124217)
-
(2001)
American Journal of Human Genetics
, vol.69
, Issue.6
, pp. 1370-1377
-
-
Amiel, J.1
Espinosa-Parrilla, Y.2
Steffann, J.3
Gosset, P.4
Pelet, A.5
Prieur, M.6
Boute, O.7
Choiset, A.8
Lacombe, D.9
Philip, N.10
Le Merrer, M.11
Tanaka, H.12
Till, M.13
Touraine, R.14
Toutain, A.15
Vekemans, M.16
Munnich, A.17
Lyonnet, S.18
-
195
-
-
0031800728
-
Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome
-
DOI 10.1038/ng0598-47
-
Dreyer, S. D., Zhou, G., Baldini, A., Winterpacht, A., Zabel, B., Cole, W., Johnson, R. L., Lee, B. (1998) Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome. Nat Genet 19, 47-50. (Pubitemid 28242021)
-
(1998)
Nature Genetics
, vol.19
, Issue.1
, pp. 47-50
-
-
Dreyer, S.D.1
Zhou, G.2
Baldini, A.3
Winterpacht, A.4
Zabel, B.5
Cole, W.6
Johnson, R.L.7
Lee, B.8
-
196
-
-
66149185290
-
Neurofi bromatosis type 2
-
Asthagiri, A.R., Parry, D.M., Butman, J.A., Kim, H.J., Tsilou, E.T., Zhuang, Z., Lonser, R.R. 2009. Neurofi bromatosis type 2. Lancet 373, 1974-86.
-
(2009)
Lancet
, vol.373
, pp. 1974-86
-
-
Asthagiri, A.R.1
Parry, D.M.2
Butman, J.A.3
Kim, H.J.4
Tsilou, E.T.5
Zhuang, Z.6
Lonser, R.R.7
-
197
-
-
34247869699
-
Contiguous deletion of the NDP, MAOA, MAOB and EFHC2 genes in a patient with Norrie disease, severe psychomotor retardation and myoclonic epilepsy
-
DOI 10.1002/ajmg.a.31521
-
Rodriguez-Revenga, L., Madrigal, I., Alkhalidi, L.S., Armengol, L., González, E., Badenas, C., Estivill, X., Milà, M. (2007) Contiguous deletion of the NDP, MAOA, MAOB, and EFHC2 genes in a patient with Norrie disease, severe psychomotor retardation and myoclonic epilepsy. Am J Med Genet A 143, 916-20. (Pubitemid 46700895)
-
(2007)
American Journal of Medical Genetics, Part A
, vol.143
, Issue.9
, pp. 916-920
-
-
Rodriguez-Revenga, L.1
Madrigal, I.2
Alkhalidi, L.S.3
Armengol, L.4
Gonzalez, E.5
Badenas, C.6
Estivill, X.7
Mila, M.8
-
198
-
-
33847715562
-
MID1 mutation screening in a large cohort of Opitz G/BBB syndrome patients: Twenty-nine novel mutations identifi ed
-
Ferrentino, R., Bassi, M.T., Chitayat, D., Tabolacci, E., Meroni, G. (2007) MID1 mutation screening in a large cohort of Opitz G/BBB syndrome patients: twenty-nine novel mutations identifi ed. Hum Mutat 28, 206-7.
-
(2007)
Hum Mutat
, vol.28
, pp. 206-7
-
-
Ferrentino, R.1
Bassi, M.T.2
Chitayat, D.3
Tabolacci, E.4
Meroni, G.5
-
199
-
-
0030039992
-
Relative frequency of mutations causing ornithine transcarbamylase deficiency in 78 families
-
DOI 10.1007/BF02185751
-
Tuchman, M., Plante, R.J., Garcia-Perez, M.A., Rubio, V. (1996) Relative frequency of mutations causing ornithine transcarbamylase defi ciency in 78 families. Hum Genet 97, 274-6. (Pubitemid 26057019)
-
(1996)
Human Genetics
, vol.97
, Issue.3
, pp. 274-276
-
-
Tuchman, M.1
Plante, R.J.2
Garcia-Perez, M.A.3
Rubio, V.4
-
200
-
-
0026087355
-
Tetrasomy 12p (Pallister-Killian syndrome)
-
Schinzel, A. (1991) Tetrasomy 12p (Pallister-Killian syndrome). J Med Genet 28, 122-5. (Pubitemid 21901916)
-
(1991)
Journal of Medical Genetics
, vol.28
, Issue.2
, pp. 122-125
-
-
Schinzel, A.1
-
201
-
-
10544234193
-
Mapping of a gene for Parkinsons disease to chromosome 4q21-q23
-
Polymeropoulos, M. H., Higgins, J. J., Golbe, L. I., Johnson, W. G., Ide, S. E., Di Iorio, G., Sanges, G., Stenroos, E. S., Pho, L. T., Schaffer, A. A., Lazzarini, A. M., Nussbaum, R. L., Duvoisin, R. C. (1996) Mapping of a gene for Parkinsons disease to chromosome 4q21-q23. Science 274, 1197-8.
-
(1996)
Science
, vol.274
, pp. 1197-8
-
-
Polymeropoulos, M.H.1
Higgins, J.J.2
Golbe, L.I.3
Johnson, W.G.4
Ide, S.E.5
Di Iorio, G.6
Sanges, G.7
Stenroos, E.S.8
Pho, L.T.9
Schaffer, A.A.10
Lazzarini, A.M.11
Nussbaum, R.L.12
Duvoisin, R.C.13
-
202
-
-
15444363703
-
PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2
-
DOI 10.1007/s10048-004-0207-y
-
Inoue K. (2005) PLP1 -related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Neurogenetics 6, 1-16. (Pubitemid 40394825)
-
(2005)
Neurogenetics
, vol.6
, Issue.1
, pp. 1-16
-
-
Inoue, K.1
-
203
-
-
34247641061
-
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)
-
DOI 10.1086/515583
-
Zweier, C., Peippo, M. M., Hoyer, J., Sousa, S., Bottani, A., Clayton-Smith, J., Reardon, W., Saraiva, J., Cabral, A., Gohring, I., Devriendt, K., de Ravel, T., Bijlsma, E. K., Hennekam, R. C., M., Orrico, A., Cohen, M., Dreweke, A., Reis, A., Nurnberg, P., Rauch, A. (2007) Haploinsuffi ciency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). Am J Hum Genet 80, 994-1001. (Pubitemid 46668469)
-
(2007)
American Journal of Human Genetics
, vol.80
, Issue.5
, pp. 994-1001
-
-
Zweier, C.1
Peippo, M.M.2
Hoyer, J.3
Sousa, S.4
Bottani, A.5
Clayton-Smith, J.6
Reardon, W.7
Saraiva, J.8
Cabral, A.9
Gohring, I.10
Devriendt, K.11
De Ravel, T.12
Bijlsma, E.K.13
Hennekam, R.C.M.14
Orrico, A.15
Cohen, M.16
Dreweke, A.17
Reis, A.18
Nurnberg, P.19
Rauch, A.20
more..
-
204
-
-
0029878404
-
Interstitial deletion of 11(p11.2p12): A newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses ( EXT2 )
-
Potocki, L., Shaffer, L. G. (1996) Interstitial deletion of 11(p11.2p12): a newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses ( EXT2 ). Am J Med Genet 62, 319-25.
-
(1996)
Am J Med Genet
, vol.62
, pp. 319-25
-
-
Potocki, L.1
Shaffer, L.G.2
-
205
-
-
0024382804
-
Preferential germline mutation of the paternal allele in retinoblastoma
-
DOI 10.1038/340312a0
-
Zhu, X., Dunn, J. M., Phillips, R. A., Goddard, A. D., Paton, K. E., Becker, A., Gallie, B. L. (1989) Preferential germline mutation of the paternal allele in retinoblastoma. Nature 340, 312-3. (Pubitemid 19189692)
-
(1989)
Nature
, vol.340
, Issue.6231
, pp. 312-313
-
-
Zhu, X.1
Dunn, J.M.2
Phillips, R.A.3
Goddard, A.D.4
Paton, K.E.5
Becker, A.6
Gallie, B.L.7
-
206
-
-
0037215780
-
Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP 2)
-
DOI 10.1016/S1090-3798(02)00134-4
-
Moog, U., Smeets, E.E.J., van Roozendaal, K.E.P., Schoenmakers, S., Herbergs, J., Schoonbrood-Lenssen, A.M.J., Schrander-Stumpel, C.T.R.M. (2003) Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2). Eur J Paediat Neurol 7, 5-12. (Pubitemid 36284838)
-
(2003)
European Journal of Paediatric Neurology
, vol.7
, Issue.1
, pp. 5-12
-
-
Moog, U.1
Smeets, E.E.J.2
Van Roozendaal, K.E.P.3
Schoenmakers, S.4
Herbergs, J.5
Schoonbrood-Lenssen, A.M.J.6
Schrander-Stumpel, C.T.R.M.7
-
207
-
-
20244366825
-
Diagnostic analysis of the Rubinstein-Taybi syndrome: Five cosmids should be used for microdeletion detection and low number of protein truncating mutations
-
Petrij, F., Dauwerse, H. G., Blough, R. I., Giles, R. H., van der Smagt, J. J., Wallerstein, R., Maaswinkel-Mooy, P. D., van Karnebeek, C. D., van Ommen, G.-J. B., van Haeringen, A., Rubinstein, J. H., Saal, H. M., Hennekam, R. C. M., Peters, D. J. M., Breuning, M. H. (2000) Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations. J Med Genet 37, 168-76. (Pubitemid 30245909)
-
(2000)
Journal of Medical Genetics
, vol.37
, Issue.3
, pp. 168-176
-
-
Petrij, F.1
Dauwerse, H.G.2
Blough, R.I.3
Giles, R.H.4
Van Der Smagt, J.J.5
Wallerstein, R.6
Maaswinkel-Mooy, P.D.7
Van Karnebeek, C.D.8
Van Ommen, G.B.9
Van Haeringen, A.10
Rubinstein, J.H.11
Saal, H.M.12
Hennekam, R.C.M.13
Peters, D.J.M.14
Breuning, M.H.15
-
208
-
-
0031012353
-
Mutations of the twist gene in the saethre-chotzen syndrome
-
DOI 10.1038/ng0197-42
-
El Ghouzzi, V., Le Merrer, M., Perrin-Schmitt, F., Lajeunie, E., Benit, P., Renier, D., Bourgeois, P., Bolcato-Bellemin, A.-L., Munnich, A., Bonaventure, J. (1997) Mutations of the TWIST gene in the Saethre-Chotzen syndrome. Nat Genet 15, 42-46. (Pubitemid 27014948)
-
(1997)
Nature Genetics
, vol.15
, Issue.1
, pp. 42-46
-
-
Ghouzzi, V.E.1
Merrer, M.L.2
Perrin-Schmitt, F.3
Lajeunie, E.4
Benit, P.5
Renier, D.6
Bourgeois, P.7
Bolcato-Bellemin, A.-L.8
Munnich, A.9
Bonaventure, J.10
-
209
-
-
84876816454
-
Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1
-
Scherer, S.W., Poorkaj, P., Allen, T., Kim, J., Geshuri, D., Nunes, M., Soder, S., Stephens, K., Pagon, R.A., Patton, M.A., et al. (1994) Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1. Am J Hum Genet 55, 12-20. (Pubitemid 24242377)
-
(1994)
American Journal of Human Genetics
, vol.55
, Issue.1
, pp. 12-20
-
-
Scherer, S.W.1
Poorkaj, P.2
Allen, T.3
Kim, J.4
Geshuri, D.5
Nunes, M.6
Soder, S.7
Stephens, K.8
Pagon, R.A.9
Patton, M.A.10
Berg, M.A.11
Donlon, T.12
Rivera, H.13
Pfeiffer, R.A.14
Naritomi, K.15
Hughes, H.16
Genuardi, M.17
Gurrieri, F.18
Neri, G.19
Lovrein, E.20
Magenis, E.21
Tsui, L.-C.22
Evans, J.P.23
more..
-
210
-
-
10744232005
-
A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24
-
DOI 10.1093/hmg/ddg212
-
de Mollerat, X.J., Gurrieri, F., Morgan, C.T., Sangiorgi, E., Everman, D.B., Gaspari, P., Amiel, J., Bamshad, M.J., Lyle, R., Blouin, J.L., Allanson, J.E., Le Marec, B., Wilson, M., Braverman, N.E., Radhakrishna, U., Delozier-Blanchet, C., Abbott, A., Elghouzzi, V., Antonarakis, S., Stevenson, R.E., Munnich, A., Neri, G., Schwartz, C.E. (2003) A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24. Hum Mol Genet 12, 1959-71. (Pubitemid 37038805)
-
(2003)
Human Molecular Genetics
, vol.12
, Issue.16
, pp. 1959-1971
-
-
De Mollerat, X.J.1
Gurrieri, F.2
Morgan, C.T.3
Sangiorgi, E.4
Everman, D.B.5
Gaspari, P.6
Amiel, J.7
Bamshad, M.J.8
Lyle, R.9
Blouin, J.-L.10
Allanson, J.E.11
Le Marec, B.12
Wilson, M.13
Braverman, N.E.14
Radhakrishna, U.15
Delozier-Blanchet, C.16
Abbott, A.17
Elghouzzi, V.18
Antonarakis, S.19
Stevenson, R.E.20
Munnich, A.21
Neri, G.22
Schwartz, C.E.23
more..
-
211
-
-
0031963876
-
Mutations in the SALL1 putative transcription factor gene cause Townes- Brocks syndrome
-
DOI 10.1038/ng0198-81
-
Kohlhase, J., Wischermann, A., Reichenbach, H., Froster, U., Engel, W. (1998) Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome. Nat Genet 18, 81-3. (Pubitemid 28027886)
-
(1998)
Nature Genetics
, vol.18
, Issue.1
, pp. 81-83
-
-
Kohlhase, J.1
Wischermann, A.2
Reichenbach, H.3
Froster, U.4
Engel, W.5
-
212
-
-
0028051871
-
Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease - A contiguous gene syndrome
-
DOI 10.1038/ng1294-328
-
Brook-Carter, P.T., Peral, B., Ward, C.J., Thompson, P., Hughes, J., Maheshwar, M.M., Nellist, M., Gamble, V., Harris, P.C., Sampson, J.R. (1994) Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease: a contiguous gene syndrome. Nat Genet 8, 328-32. (Pubitemid 24375596)
-
(1994)
Nature Genetics
, vol.8
, Issue.4
, pp. 328-332
-
-
Brook-Carter, P.T.1
Peral, B.2
Ward, C.J.3
Thompson, P.4
Hughes, J.5
Maheshwar, M.M.6
Nellist, M.7
Gamble, V.8
Harris, P.C.9
Sampson, J.R.10
-
213
-
-
0030696314
-
Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis
-
DOI 10.1093/hmg/6.12.2155
-
Jones, A. C., Daniells, C. E., Snell, R.G., Tachataki, M., Idziaszczyk, S.A., Krawczak, M., Sampson, J.R., Cheadle, J.P. (1997) Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis. Hum Molec Genet 6, 2155-61. (Pubitemid 27477959)
-
(1997)
Human Molecular Genetics
, vol.6
, Issue.12
, pp. 2155-2161
-
-
Jones, A.C.1
Daniells, C.E.2
Snell, R.G.3
Tachataki, M.4
Idziaszczyk, S.A.5
Krawczak, M.6
Sampson, J.R.7
Cheadle, J.P.8
-
214
-
-
33751350666
-
Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28Mb deletion encompassing the TBX3 gene
-
DOI 10.1038/sj.ejhg.5201696, PII 5201696
-
Klopocki, E., Neumann, L. M., Tonnies, H., Ropers, H.-H., Mundlos, S., Ullmann, R. (2006) Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene. Eur J Hum Genet 14, 1274-9. (Pubitemid 44804034)
-
(2006)
European Journal of Human Genetics
, vol.14
, Issue.12
, pp. 1274-1279
-
-
Klopocki, E.1
Neumann, L.M.2
Tonnies, H.3
Ropers, H.-H.4
Mundlos, S.5
Ullmann, R.6
-
215
-
-
18644374446
-
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes
-
Kondo, S., Schutte, B.C., Richardson, R.J., Bjork, B. C., Knight, A.S., Watanabe, Y., Howard, E., Ferreira de Lima, R.L.L., Daack-Hirsch, S., Sander, A., McDonald-McGinn, D. M., Zackai, E.H., Lammer, E.J., Aylsworth, A.S., Ardinger, H.H., Lidral, A.C., Pober, B.R., Moreno, L., Arcos-Burgos, M., Valencia, C., Houdayer, C., Bahuau, M., Moretti-Ferreira, D., Richieri-Costa, A., Dixon, M.J., Murray, J.C. (2002) Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Genet 32, 285-9.
-
(2002)
Nat Genet
, vol.32
, pp. 285-9
-
-
Kondo, S.1
Schutte, B.C.2
Richardson, R.J.3
Bjork, B.C.4
Knight, A.S.5
Watanabe, Y.6
Howard, E.7
Ferreira De Lima, R.L.L.8
Daack-Hirsch, S.9
Sander, A.10
McDonald-Mcginn, D.M.11
Zackai, E.H.12
Lammer, E.J.13
Aylsworth, A.S.14
Ardinger, H.H.15
Lidral, A.C.16
Pober, B.R.17
Moreno, L.18
Arcos-Burgos, M.19
Valencia, C.20
Houdayer, C.21
Bahuau, M.22
Moretti-Ferreira, D.23
Richieri-Costa, A.24
Dixon, M.J.25
Murray, J.C.26
more..
-
216
-
-
0037373130
-
Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2
-
DOI 10.1086/367925
-
Zollino, M., Lecce, R., Fischetto, R., Murdolo, M., Faravelli, F., Selicorni, A., Butt, C., Memo, L., Capovilla, G., Neri, G. (2003) Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2. Am J Hum Genet 72, 590-7. (Pubitemid 36255958)
-
(2003)
American Journal of Human Genetics
, vol.72
, Issue.3
, pp. 590-597
-
-
Zollino, M.1
Lecce, R.2
Fischetto, R.3
Murdolo, M.4
Faravelli, F.5
Selicorni, A.6
Butte, C.7
Memo, L.8
Capovilla, G.9
Neri, G.10
-
217
-
-
10744222257
-
Mutations of ARX Are Associated with Striking Pleiotropy and Consistent Genotype-Phenotype Correlation
-
DOI 10.1002/humu.10310
-
Kato, M., Das, S., Petras, K., Kitamura, K., Morohashi, K., Abuelo, D.N., Barr, M., Bonneau, D.,,Brady, A.F., Carpenter, N.J., Cipero, K.L., Frisone, F., Fukuda, T., Guerrini, R., Iida, E., Itoh, M., Lewanda, A.F., Nanba, Y., Oka, A., Proud, V.K., Saugier-Veber, P., Schelley, S.L., Selicorni, A., Shaner, R., Silengo, M., Stewart, F., Sugiyama, N., Toyama, J., Toutain, A., Vargas, A.L., Yanazawa, M., Zackai, E.H., Dobyns, W.B. (2004) Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. Hum Mutat 23, 147-59. (Pubitemid 38200605)
-
(2004)
Human Mutation
, vol.23
, Issue.2
, pp. 147-159
-
-
Kato, M.1
Das, S.2
Petras, K.3
Kitamura, K.4
Morohashi, K.-I.5
Abuelo, D.N.6
Barr, M.7
Bonneau, D.8
Brady, A.F.9
Carpenter, N.J.10
Cipero, K.L.11
Frisone, F.12
Fukuda, T.13
Guerrini, R.14
Iida, E.15
Itoh, M.16
Lewanda, A.F.17
Nanba, Y.18
Oka, A.19
Proud, V.K.20
Saugier-Veber, P.21
Schelley, S.L.22
Selicorni, A.23
Shaner, R.24
Silengo, M.25
Stewart, F.26
Sugiyama, N.27
Toyama, J.28
Toutain, A.29
Vargas, A.L.30
Yanazawa, M.31
Zackai, E.H.32
Dobyns, W.B.33
more..
-
218
-
-
0034331249
-
Correlation of mutations of the SH2D1A gene and epstein-barr virus infection with clinical phenotype and outcome in X-linked lymphoproliferative disease
-
Sumegi, J., Huang, D., Lanyi, A., Davis, J.D., Seemayer, T.A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H., Purtilo, D.T., Gross, T.G. (2000) Correlation of mutations of the SH2D1A gene and epstein-barr virus infection with clinical phenotype and outcome in X-linked lymphoproliferative disease. Blood 96, 3118-25.
-
(2000)
Blood
, vol.96
, pp. 3118-25
-
-
Sumegi, J.1
Huang, D.2
Lanyi, A.3
Davis, J.D.4
Seemayer, T.A.5
Maeda, A.6
Klein, G.7
Seri, M.8
Wakiguchi, H.9
Purtilo, D.T.10
Gross, T.G.11
-
219
-
-
16644384244
-
IL1RAPL1 is associated with mental retardation in patients with complex glycerol kinase defi ciency who have deletions extending telomeric of DAX1
-
Zhang, Y.H., Huang, B.L., Niakan, K.K., McCabe, L.L., McCabe, E.R., Dipple, K.M. (2004) IL1RAPL1 is associated with mental retardation in patients with complex glycerol kinase defi ciency who have deletions extending telomeric of DAX1. Hum Mutat 24, 273.
-
(2004)
Hum Mutat
, vol.24
, pp. 273
-
-
Zhang, Y.H.1
Huang, B.L.2
Niakan, K.K.3
McCabe, L.L.4
McCabe, E.R.5
Dipple, K.M.6
-
220
-
-
0036913192
-
Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency
-
DOI 10.1086/344661
-
Laumonnier, F., Ronce, N., Hamel, B.C., Thomas, P., Lespinasse, J., Raynaud, M., Paringaux, C., Van Bokhoven, H., Kalscheuer, V., Fryns, J.P., Chelly, J., Moraine, C., Briault, S. (2002) Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone defi ciency. Am J Hum Genet 71, 1450-5. (Pubitemid 36015898)
-
(2002)
American Journal of Human Genetics
, vol.71
, Issue.6
, pp. 1450-1455
-
-
Laumonnier, F.1
Ronce, N.2
Hamel, B.C.J.3
Thomas, P.4
Lespinasse, J.5
Raynaud, M.6
Paringaux, C.7
Van Bokhoven, H.8
Kalscheuer, V.9
Fryns, J.-P.10
Chelly, J.11
Moraine, C.12
Briault, S.13
-
221
-
-
50449089620
-
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum
-
Najm, J., Horn, D., Wimplinger, I., Golden, J.A., Chizhikov, V.V., Sudi, J., Christian, S.L., Ullmann, R., Kuechler, A., Haas, C.A., Flubacher, A., Charnas, L.R., Uyanik, G., Frank, U., Klopocki, E., Dobyns, W.B., Kutsche, K. (2008) Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. Nat Genet 40, 1065-7.
-
(2008)
Nat Genet
, vol.40
, pp. 1065-7
-
-
Najm, J.1
Horn, D.2
Wimplinger, I.3
Golden, J.A.4
Chizhikov, V.V.5
Sudi, J.6
Christian, S.L.7
Ullmann, R.8
Kuechler, A.9
Haas, C.A.10
Flubacher, A.11
Charnas, L.R.12
Uyanik, G.13
Frank, U.14
Klopocki, E.15
Dobyns, W.B.16
Kutsche, K.17
-
222
-
-
80755187820
-
Human copy number variation and complex genetic disease
-
Girirajan, S., Campbell, C.D., Eichler, E. E. (2011) Human copy number variation and complex genetic disease. Annu Rev Genet 45, 203-26.
-
(2011)
Annu Rev Genet
, vol.45
, pp. 203-26
-
-
Girirajan, S.1
Campbell, C.D.2
Eichler, E.E.3
-
223
-
-
78649786568
-
Recurrent Distal 7q11.23 Deletion Including HIP1 and YWHAG Identifi ed in Patients with Intellectual Disabilities, Epilepsy, and Neurobehavioral Problems
-
Ramocki, M.B., Bartnik, M., Szafranski, P., Kodziejska, K. E., Xia, Z., Bravo, J., Miller, G. S., Rodriguez, D.L., Williams, C.A., Bader, P.I., Szczepanik, E., Mazurczak, T., Antczak-Marach, D., Coldwell, J.G., Akman, C.I., McAlmon, K., Cohen, M.P., McGrath, J., Roeder, E., Mueller, J., Kang, S.-H., Bacino, C. A., Patel, A., Bocian, E., Shaw, C. A., Cheung, S. W., Mazurczak, T., Stankiewicz, P. (2010) Recurrent Distal 7q11.23 Deletion Including HIP1 and YWHAG Identifi ed in Patients with Intellectual Disabilities, Epilepsy, and Neurobehavioral Problems. Am J Hum Genet 87, 857-65.
-
(2010)
Am J Hum Genet
, vol.87
, pp. 857-65
-
-
Ramocki, M.B.1
Bartnik, M.2
Szafranski, P.3
Kodziejska, K.E.4
Xia, Z.5
Bravo, J.6
Miller, G.S.7
Rodriguez, D.L.8
Williams, C.A.9
Bader, P.I.10
Szczepanik, E.11
Mazurczak, T.12
Antczak-Marach, D.13
Coldwell, J.G.14
Akman, C.I.15
McAlmon, K.16
Cohen, M.P.17
McGrath, J.18
Roeder, E.19
Mueller, J.20
Kang, S.-H.21
Bacino, C.A.22
Patel, A.23
Bocian, E.24
Shaw, C.A.25
Cheung, S.W.26
Mazurczak, T.27
Stankiewicz, P.28
more..
-
224
-
-
84856248399
-
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats
-
In press
-
Stankiewicz, P., Kulkarni, S., Dharmadhikari, A. V., Sampath, S., Bhatt, S. S., Shaikh, T. H., Xia, Z., Pursley, A.N., Cooper, M. L., Shinawi, M., Paciorkowski, A. R., Grange, D. K., Noetzel, M. J., Saunders, S., Simons, P., Summar, M., Lee, B., Scaglia, F., Fellmann, F., Martinet, D., Beckmann, J. S., Asamoah, A., Platky, K., Sparks, S., Martin, A. S., Madan-Khetarpal, S., Hoover, J., Medne, L., Bonnemann, C.G., Moeschler, J. B., Vallee, S. E., Parikh, S., Irwin, P., Dalzell, V. P., Smith, W. E., Banks, V. C., Flannery, D. B., Lovell, C. M., Bellus, G. A., Golden-Grant, K., Gorski, J. L., Kussmann, J. L., McGregor, T. L., Hamid, R., Pfotenhauer, J., Ballif, B.C., Shaw, C. A., Kang, S.-H., Bacino, C. A., Patel, A., Rosenfeld, J. A., Cheung, S. W., Shaffer, L. G. (2011) Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats. Hum Mutat In press.
-
(2011)
Hum Mutat
-
-
Stankiewicz, P.1
Kulkarni, S.2
Dharmadhikari, A.V.3
Sampath, S.4
Bhatt, S.S.5
Shaikh, T.H.6
Xia, Z.7
Pursley, A.N.8
Cooper, M.L.9
Shinawi, M.10
Paciorkowski, A.R.11
Grange, D.K.12
Noetzel, M.J.13
Saunders, S.14
Simons, P.15
Summar, M.16
Lee, B.17
Scaglia, F.18
Fellmann, F.19
Martinet, D.20
Beckmann, J.S.21
Asamoah, A.22
Platky, K.23
Sparks, S.24
Martin, A.S.25
Madan-Khetarpal, S.26
Hoover, J.27
Medne, L.28
Bonnemann, C.G.29
Moeschler, J.B.30
Vallee, S.E.31
Parikh, S.32
Irwin, P.33
Dalzell, V.P.34
Smith, W.E.35
Banks, V.C.36
Flannery, D.B.37
Lovell, C.M.38
Bellus, G.A.39
Golden-Grant, K.40
Gorski, J.L.41
Kussmann, J.L.42
McGregor, T.L.43
Hamid, R.44
Pfotenhauer, J.45
Ballif, B.C.46
Shaw, C.A.47
Kang, S.-H.48
Bacino, C.A.49
Patel, A.50
Rosenfeld, J.A.51
Cheung, S.W.52
Shaffer, L.G.53
more..
-
225
-
-
79551650497
-
2q31.1 microdeletion syndrome: Redefining the associated clinical phenotype
-
Dimitrov, B., Balikova, I., de Ravel, T., Van Esch, H., De Smedt, M., Baten, E., Vermeesch, J. R., Bradinova, I., Simeonov, E., Devriendt, K., Fryns, J. P., Debeer, P. (2011) 2q31.1 microdeletion syndrome: redefining the associated clinical phenotype. J Med Genet 48, 98-104.
-
(2011)
J Med Genet
, vol.48
, pp. 98-104
-
-
Dimitrov, B.1
Balikova, I.2
De Ravel, T.3
Van Esch, H.4
De Smedt, M.5
Baten, E.6
Vermeesch, J.R.7
Bradinova, I.8
Simeonov, E.9
Devriendt, K.10
Fryns, J.P.11
Debeer, P.12
-
226
-
-
80051670618
-
Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype
-
Palomares, M., Delicado, A., Mansilla, E., de Torres, M. L., Vallespín, E., Fernandez, L., Martinez-Glez, V., García- Miñaur, S., Nevado, J., Simarro, F. S., Ruiz-Perez, V. L., Lynch, S. A., Sharkey, F. H., Thuresson, A. C., Annerén, G., Belligni, E. F., Martínez-Fernández, M. L., Bermejo, E., Nowakowska, B., Kutkowska-Kazmierczak, A., Bocian, E., Obersztyn, E., Martínez- Frías, M. L., Hennekam, R. C., Lapunzina, P. (2011) Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype. Am J Hum Genet 89, 295-301.
-
(2011)
Am J Hum Genet
, vol.89
, pp. 295-301
-
-
Palomares, M.1
Delicado, A.2
Mansilla, E.3
De Torres, M.L.4
Vallespín, E.5
Fernandez, L.6
Martinez-Glez, V.7
García-Miñaur, S.8
Nevado, J.9
Simarro, F.S.10
Ruiz-Perez, V.L.11
Lynch, S.A.12
Sharkey, F.H.13
Thuresson, A.C.14
Annerén, G.15
Belligni, E.F.16
Martínez-Fernández, M.L.17
Bermejo, E.18
Nowakowska, B.19
Kutkowska-Kazmierczak, A.20
Bocian, E.21
Obersztyn, E.22
Martínez-Frías, M.L.23
Hennekam, R.C.24
Lapunzina, P.25
more..
-
227
-
-
74249088463
-
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies
-
de Kovel, C.G., Trucks, H., Helbig, I., Mefford, H.C., Baker, C., Leu, C., Kluck, C., Muhle, H., von Spiczak, S., Ostertag, P., Obermeier, T., Kleefuss-Lie, A.A., Hallmann, K., Steffens, M., Gaus, V., Klein, K.M., Hamer, H.M., Rosenow, F., Brilstra, E.H., Trenité, D.K., Swinkels, M.E., Weber, Y.G., Unterberger, I., Zimprich, F., Urak, L., Feucht, M., Fuchs, K., Møller, R.S., Hjalgrim, H., De Jonghe, P., Suls, A., Rückert, I.M., Wichmann, H.E., Franke, A., Schreiber, S., Nürnberg, P., Elger, C.E., Lerche, H., Stephani, U., Koeleman, B.P., Lindhout, D., Eichler, E.E., Sander, T. (2010) Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain 133, 23-32.
-
(2010)
Brain
, vol.133
, pp. 23-32
-
-
De Kovel, C.G.1
Trucks, H.2
Helbig, I.3
Mefford, H.C.4
Baker, C.5
Leu, C.6
Kluck, C.7
Muhle, H.8
Von Spiczak, S.9
Ostertag, P.10
Obermeier, T.11
Kleefuss-Lie, A.A.12
Hallmann, K.13
Steffens, M.14
Gaus, V.15
Klein, K.M.16
Hamer, H.M.17
Rosenow, F.18
Brilstra, E.H.19
Trenité, D.K.20
Swinkels, M.E.21
Weber, Y.G.22
Unterberger, I.23
Zimprich, F.24
Urak, L.25
Feucht, M.26
Fuchs, K.27
Møller, R.S.28
Hjalgrim, H.29
De Jonghe, P.30
Suls, A.31
Rückert, I.M.32
Wichmann, H.E.33
Franke, A.34
Schreiber, S.35
Nürnberg, P.36
Elger, C.E.37
Lerche, H.38
Stephani, U.39
Koeleman, B.P.40
Lindhout, D.41
Eichler, E.E.42
Sander, T.43
more..
-
228
-
-
84855806403
-
Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44
-
in press
-
Nagamani, S.C., Erez, A., Bay, C., Pettigrew, A., Lalani, S.R., Herman, K., Graham, B.H., Nowaczyk, M.J., Proud, M., Craigen, W.J., Hopkins, B., Kozel, B., Plunkett, K., Hixson, P., Stankiewicz, P., Patel, A., Cheung, S.W. (2011) Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44. Eur J Hum Genet in press.
-
(2011)
Eur J Hum Genet
-
-
Nagamani, S.C.1
Erez, A.2
Bay, C.3
Pettigrew, A.4
Lalani, S.R.5
Herman, K.6
Graham, B.H.7
Nowaczyk, M.J.8
Proud, M.9
Craigen, W.J.10
Hopkins, B.11
Kozel, B.12
Plunkett, K.13
Hixson, P.14
Stankiewicz, P.15
Patel, A.16
Cheung, S.W.17
-
229
-
-
84856633250
-
High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44
-
in press
-
Ballif, B.C., Rosenfeld, J.A., Traylor, R., Theisen, A., Bader, P.I., Ladda, R.L., Sell, S.L., Steinraths, M., Surti, U., McGuire, M., Williams, S., Farrell, S.A., Filiano, J., Schnur, R.E., Coffey, L.B., Tervo, R.C., Stroud, T., Marble, M., Netzloff, M., Hanson, K., Aylsworth, A.S., Bamforth, J.S., Babu, D., Niyazov, D.M., Ravnan, J.B., Schultz, R.A., Lamb, A.N., Torchia, B.S., Bejjani, B.A., Shaffer, L.G. (2011) High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44. Hum Genet in press.
-
(2011)
Hum Genet
-
-
Ballif, B.C.1
Rosenfeld, J.A.2
Traylor, R.3
Theisen, A.4
Bader, P.I.5
Ladda, R.L.6
Sell, S.L.7
Steinraths, M.8
Surti, U.9
McGuire, M.10
Williams, S.11
Farrell, S.A.12
Filiano, J.13
Schnur, R.E.14
Coffey, L.B.15
Tervo, R.C.16
Stroud, T.17
Marble, M.18
Netzloff, M.19
Hanson, K.20
Aylsworth, A.S.21
Bamforth, J.S.22
Babu, D.23
Niyazov, D.M.24
Ravnan, J.B.25
Schultz, R.A.26
Lamb, A.N.27
Torchia, B.S.28
Bejjani, B.A.29
Shaffer, L.G.30
more..
-
230
-
-
77956112954
-
A dominant mesomelic dysplasia associated with a 1.0-Mb microduplication of HOXD gene cluster at 2q31.1
-
Cho, T.-J., Kim, O.-H., Choi, I. H., Nishimura, G., Superti-Furga, A., Kim, K. S., Lee, Y.-J., Park, W.-Y. (2010) A dominant mesomelic dysplasia associated with a 1.0-Mb microduplication of HOXD gene cluster at 2q31.1. J Med Genet 47, 638-9.
-
(2010)
J Med Genet
, vol.47
, pp. 638-9
-
-
Cho, T.-J.1
Kim, O.-H.2
Choi, I.H.3
Nishimura, G.4
Superti-Furga, A.5
Kim, K.S.6
Lee, Y.-J.7
Park, W.-Y.8
|