-
1
-
-
70350221909
-
Copy number variation in human health, disease, and evolution
-
Zhang, F., Gu, W., Hurles, M.E. and Lupski, J.R. (2009) Copy number variation in human health, disease, and evolution. Annu. Rev. Genomics Hum. Genet., 10, 451-481.
-
(2009)
Annu. Rev. Genomics Hum. Genet.
, vol.10
, pp. 451-481
-
-
Zhang, F.1
Gu, W.2
Hurles, M.E.3
Lupski, J.R.4
-
2
-
-
80053549439
-
Clan genomics and the complex architecture of human disease
-
Lupski, J.R., Belmont, J.W., Boerwinkle, E. and Gibbs, R.A. (2011) Clan genomics and the complex architecture of human disease. Cell, 147, 32-43.
-
(2011)
Cell
, vol.147
, pp. 32-43
-
-
Lupski, J.R.1
Belmont, J.W.2
Boerwinkle, E.3
Gibbs, R.A.4
-
3
-
-
78649460246
-
New mutations and intellectual function
-
Lupski, J.R. (2010) New mutations and intellectual function. Nat. Genet., 42, 1036-1038.
-
(2010)
Nat. Genet.
, vol.42
, pp. 1036-1038
-
-
Lupski, J.R.1
-
4
-
-
79959941659
-
Genomic medicine and neurological disease
-
Boone, P.M., Wiszniewski, W. and Lupski, J.R. (2011) Genomic medicine and neurological disease. Hum. Genet., 130, 103-121.
-
(2011)
Hum. Genet.
, vol.130
, pp. 103-121
-
-
Boone, P.M.1
Wiszniewski, W.2
Lupski, J.R.3
-
5
-
-
0035234557
-
Genomic imprinting: parental influence on the genome
-
Reik, W. and Walter, J. (2001) Genomic imprinting: parental influence on the genome. Nat. Rev. Genet., 2, 21-32.
-
(2001)
Nat. Rev. Genet.
, vol.2
, pp. 21-32
-
-
Reik, W.1
Walter, J.2
-
6
-
-
67649790837
-
Understanding what determines the frequency and pattern of human germline mutations
-
Arnheim, N. and Calabrese, P. (2009) Understanding what determines the frequency and pattern of human germline mutations. Nat. Rev. Genet., 10, 478-488.
-
(2009)
Nat. Rev. Genet.
, vol.10
, pp. 478-488
-
-
Arnheim, N.1
Calabrese, P.2
-
7
-
-
84862491928
-
Replication stress and mechanisms of CNV formation
-
Arlt, M.F., Wilson, T.E. and Glover, T.W. (2012) Replication stress and mechanisms of CNV formation. Curr. Opin. Genet. Dev., 22, 204-210.
-
(2012)
Curr. Opin. Genet. Dev.
, vol.22
, pp. 204-210
-
-
Arlt, M.F.1
Wilson, T.E.2
Glover, T.W.3
-
8
-
-
0036468807
-
Genome architecture, rearrangements and genomic disorders
-
Stankiewicz, P. and Lupski, J.R. (2002) Genome architecture, rearrangements and genomic disorders. Trends Genet., 18, 74-82.
-
(2002)
Trends Genet.
, vol.18
, pp. 74-82
-
-
Stankiewicz, P.1
Lupski, J.R.2
-
9
-
-
0032695458
-
Homologous DNA exchanges in humans can be explained by the yeast double-strand break repair model: a study of 17p11.2 rearrangements associated with CMT1A and HNPP
-
Lopes, J., Tardieu, S., Silander, K., Blair, I., Vandenberghe, A., Palau, F., Ruberg, M., Brice, A. and LeGuern, E. (1999) Homologous DNA exchanges in humans can be explained by the yeast double-strand break repair model: a study of 17p11.2 rearrangements associated with CMT1A and HNPP. Hum. Mol. Genet., 8, 2285-2292.
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 2285-2292
-
-
Lopes, J.1
Tardieu, S.2
Silander, K.3
Blair, I.4
Vandenberghe, A.5
Palau, F.6
Ruberg, M.7
Brice, A.8
LeGuern, E.9
-
10
-
-
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
-
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. et al. (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, 633-649.
-
(2007)
Am. J. Hum. Genet.
, vol.80
, pp. 633-649
-
-
Potocki, L.1
Bi, W.2
Treadwell-Deering, D.3
Carvalho, C.M.4
Eifert, A.5
Friedman, E.M.6
Glaze, D.7
Krull, K.8
Lee, J.A.9
Lewis, R.A.10
-
11
-
-
0042839614
-
Mechanism and regulation of human non-homologous DNA end-joining
-
Lieber, M.R., Ma, Y., Pannicke, U. and Schwarz, K. (2003) Mechanism and regulation of human non-homologous DNA end-joining. Nat. Rev. Mol. Cell Biol., 4, 712-720.
-
(2003)
Nat. Rev. Mol. Cell Biol.
, vol.4
, pp. 712-720
-
-
Lieber, M.R.1
Ma, Y.2
Pannicke, U.3
Schwarz, K.4
-
12
-
-
37349109667
-
A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders
-
Lee, J.A., Carvalho, C.M. and Lupski, J.R. (2007) A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. Cell, 131, 1235-1247.
-
(2007)
Cell
, vol.131
, pp. 1235-1247
-
-
Lee, J.A.1
Carvalho, C.M.2
Lupski, J.R.3
-
13
-
-
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. and Lupski, J.R. (2009) The DNA replication FoSTeS/MMBIR mechanism can generate human genomic, genic, and exonic complex rearrangements. Nat. Genet., 41, 849-853.
-
(2009)
Nat. Genet.
, vol.41
, pp. 849-853
-
-
Zhang, F.1
Khajavi, M.2
Connolly, A.M.3
Towne, C.F.4
Batish, S.D.5
Lupski, J.R.6
-
14
-
-
84862491113
-
Mechanisms for recurrent and complex human genomic rearrangements
-
Liu, P., Carvalho, C.M., Hastings, P. and Lupski, J.R. (2012) Mechanisms for recurrent and complex human genomic rearrangements. Curr. Opin. Genet. Dev., 22, 211-220.
-
(2012)
Curr. Opin. Genet. Dev.
, vol.22
, pp. 211-220
-
-
Liu, P.1
Carvalho, C.M.2
Hastings, P.3
Lupski, J.R.4
-
15
-
-
34547664096
-
Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes
-
Lupski, J.R. and Stankiewicz, P. (2005) Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet., 1, e49.
-
(2005)
PLoS Genet.
, vol.1
-
-
Lupski, J.R.1
Stankiewicz, P.2
-
16
-
-
0033987366
-
Molecular mechanism for duplication 17p11.2-the homologous recombination reciprocal of the Smith-Magenis microdeletion
-
Potocki, L., Chen, K.S., Park, S.S., Osterholm, D.E., Withers, M.A., Kimonis, V., Summers, A.M., Meschino, W.S., Anyane-Yeboa, K., Kashork, C.D. et al. (2000) Molecular mechanism for duplication 17p11.2-the homologous recombination reciprocal of the Smith-Magenis microdeletion. Nat. Genet., 24, 84-87.
-
(2000)
Nat. Genet.
, vol.24
, pp. 84-87
-
-
Potocki, L.1
Chen, K.S.2
Park, S.S.3
Osterholm, D.E.4
Withers, M.A.5
Kimonis, V.6
Summers, A.M.7
Meschino, W.S.8
Anyane-Yeboa, K.9
Kashork, C.D.10
-
17
-
-
77949275125
-
Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS
-
Zhang, F., Potocki, L., Sampson, J.B., Liu, P., Sanchez-Valle, A., Robbins-Furman, P., Navarro, A.D., Wheeler, P.G., Spence, J.E., Brasington, C.K. et al. (2010) Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS. Am. J. Hum. Genet., 86, 462-470.
-
(2010)
Am. J. Hum. Genet.
, vol.86
, pp. 462-470
-
-
Zhang, F.1
Potocki, L.2
Sampson, J.B.3
Liu, P.4
Sanchez-Valle, A.5
Robbins-Furman, P.6
Navarro, A.D.7
Wheeler, P.G.8
Spence, J.E.9
Brasington, C.K.10
-
18
-
-
41849146782
-
The clinical spectrum associated with a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patients
-
Doco-Fenzy, M., Holder-Espinasse, M., Bieth, E., Magdelaine, C., Vincent, M.C., Khoury, M., Andrieux, J., Zhang, F., Lupski, J.R., Klink, R. et al. (2008) The clinical spectrum associated with a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patients. Am. J. Med. Genet. A, 146, 917-924.
-
(2008)
Am. J. Med. Genet. A
, vol.146
, pp. 917-924
-
-
Doco-Fenzy, M.1
Holder-Espinasse, M.2
Bieth, E.3
Magdelaine, C.4
Vincent, M.C.5
Khoury, M.6
Andrieux, J.7
Zhang, F.8
Lupski, J.R.9
Klink, R.10
-
19
-
-
80053908833
-
Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over
-
Liu, P., Lacaria, M., Zhang, F., Withers, M., Hastings, P.J. and Lupski, J.R. (2011) Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over. Am. J. Hum. Genet., 89, 580-588.
-
(2011)
Am. J. Hum. Genet.
, vol.89
, pp. 580-588
-
-
Liu, P.1
Lacaria, M.2
Zhang, F.3
Withers, M.4
Hastings, P.J.5
Lupski, J.R.6
-
20
-
-
0037047628
-
Recent segmental duplications in the human genome
-
Bailey, J.A., Gu, Z., Clark, R.A., Reinert, K., Samonte, R.V., Schwartz, S., Adams, M.D., Myers, E.W., Li, P.W. and Eichler, E.E. (2002) Recent segmental duplications in the human genome. Science, 297, 1003-1007.
-
(2002)
Science
, vol.297
, pp. 1003-1007
-
-
Bailey, J.A.1
Gu, Z.2
Clark, R.A.3
Reinert, K.4
Samonte, R.V.5
Schwartz, S.6
Adams, M.D.7
Myers, E.W.8
Li, P.W.9
Eichler, E.E.10
-
21
-
-
67651098662
-
Mechanisms of change in gene copy number
-
Hastings, P.J., Lupski, J.R., Rosenberg, S.M. and Ira, G. (2009) Mechanisms of change in gene copy number. Nat. Rev. Genet., 10, 551-564.
-
(2009)
Nat. Rev. Genet.
, vol.10
, pp. 551-564
-
-
Hastings, P.J.1
Lupski, J.R.2
Rosenberg, S.M.3
Ira, G.4
-
22
-
-
34547395282
-
Processes of de novo duplication of human alpha-globin genes
-
Lam, K.W. and Jeffreys, A.J. (2007) Processes of de novo duplication of human alpha-globin genes. Proc. Natl Acad. Sci. USA, 104, 10950-10955.
-
(2007)
Proc. Natl Acad. Sci. USA
, vol.104
, pp. 10950-10955
-
-
Lam, K.W.1
Jeffreys, A.J.2
-
23
-
-
34547531150
-
Recurrent DNA inversion rearrangements in the human genome
-
Flores, M., Morales, L., Gonzaga-Jauregui, C., Dominguez-Vidana, R., Zepeda, C., Yanez, O., Gutierrez, M., Lemus, T., Valle, D., Avila, M.C. et al. (2007) Recurrent DNA inversion rearrangements in the human genome. Proc. Natl Acad. Sci. USA, 104, 6099-6106.
-
(2007)
Proc. Natl Acad. Sci. USA
, vol.104
, pp. 6099-6106
-
-
Flores, M.1
Morales, L.2
Gonzaga-Jauregui, C.3
Dominguez-Vidana, R.4
Zepeda, C.5
Yanez, O.6
Gutierrez, M.7
Lemus, T.8
Valle, D.9
Avila, M.C.10
-
24
-
-
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. and Hurles, M.E. (2008) Germline rates of de novo meiotic deletions and duplications causing several genomic disorders. Nat. Genet., 40, 90-95.
-
(2008)
Nat. Genet.
, vol.40
, pp. 90-95
-
-
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
-
25
-
-
4544362838
-
The mechanism of non-homologous end-joining: a synopsis of synapsis
-
Weterings, E. and van Gent, D.C. (2004) The mechanism of non-homologous end-joining: a synopsis of synapsis. DNA Repair (Amst), 3, 1425-1435.
-
(2004)
DNA Repair (Amst)
, vol.3
, pp. 1425-1435
-
-
Weterings, E.1
van Gent, D.C.2
-
26
-
-
28144439211
-
Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination
-
Woodward, K.J., Cundall, M., Sperle, K., Sistermans, E.A., Ross, M., Howell, G., Gribble, S.M., Burford, D.C., Carter, N.P., Hobson, D.L. et al. (2005) Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination. Am. J. Hum. Genet., 77, 966-987.
-
(2005)
Am. J. Hum. Genet.
, vol.77
, pp. 966-987
-
-
Woodward, K.J.1
Cundall, M.2
Sperle, K.3
Sistermans, E.A.4
Ross, M.5
Howell, G.6
Gribble, S.M.7
Burford, D.C.8
Carter, N.P.9
Hobson, D.L.10
-
27
-
-
33745619547
-
Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease
-
Lee, J.A., Inoue, K., Cheung, S.W., Shaw, C.A., Stankiewicz, P. and Lupski, J.R. (2006) Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease. Hum. Mol. Genet., 15, 2250-2265.
-
(2006)
Hum. Mol. Genet.
, vol.15
, pp. 2250-2265
-
-
Lee, J.A.1
Inoue, K.2
Cheung, S.W.3
Shaw, C.A.4
Stankiewicz, P.5
Lupski, J.R.6
-
28
-
-
80055003130
-
Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome
-
Carvalho, C.M., Ramocki, M.B., Pehlivan, D., Franco, L.M., Gonzaga-Jauregui, C., Fang, P., McCall, A., Pivnick, E.K., Hines-Dowell, S., Seaver, L.H. et al. (2011) Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome. Nat. Genet., 43, 1074-1081.
-
(2011)
Nat. Genet.
, vol.43
, pp. 1074-1081
-
-
Carvalho, C.M.1
Ramocki, M.B.2
Pehlivan, D.3
Franco, L.M.4
Gonzaga-Jauregui, C.5
Fang, P.6
McCall, A.7
Pivnick, E.K.8
Hines-Dowell, S.9
Seaver, L.H.10
-
29
-
-
81055157730
-
De novo copy number variants associated with intellectual disability have a paternal origin and age bias
-
Hehir-Kwa, J.Y., Rodriguez-Santiago, B., Vissers, L.E., de Leeuw, N., Pfundt, R., Buitelaar, J.K., Perez-Jurado, L.A. and Veltman, J.A. (2011) De novo copy number variants associated with intellectual disability have a paternal origin and age bias. J. Med. Genet., 48, 776-778.
-
(2011)
J. Med. Genet.
, vol.48
, pp. 776-778
-
-
Hehir-Kwa, J.Y.1
Rodriguez-Santiago, B.2
Vissers, L.E.3
de Leeuw, N.4
Pfundt, R.5
Buitelaar, J.K.6
Perez-Jurado, L.A.7
Veltman, J.A.8
-
30
-
-
84855767077
-
De novo deletions and duplications detected by array CGH: a study of parental origin in relation to mechanisms of formation and size of imbalance
-
Sibbons, C., Morris, J.K., Crolla, J.A., Jacobs, P.A. and Thomas, N.S. (2012) De novo deletions and duplications detected by array CGH: a study of parental origin in relation to mechanisms of formation and size of imbalance. Eur. J. Hum. Genet., 20, 155-160.
-
(2012)
Eur. J. Hum. Genet.
, vol.20
, pp. 155-160
-
-
Sibbons, C.1
Morris, J.K.2
Crolla, J.A.3
Jacobs, P.A.4
Thomas, N.S.5
-
31
-
-
0028256298
-
On the origin of deletions and point mutations in Duchenne muscular dystrophy: most deletions arise in oogenesis and most point mutations result from events in spermatogenesis
-
Grimm, T., Meng, G., Liechti-Gallati, S., Bettecken, T., Muller, C.R. and Muller, B. (1994) On the origin of deletions and point mutations in Duchenne muscular dystrophy: most deletions arise in oogenesis and most point mutations result from events in spermatogenesis. J. Med. Genet., 31, 183-186.
-
(1994)
J. Med. Genet.
, vol.31
, pp. 183-186
-
-
Grimm, T.1
Meng, G.2
Liechti-Gallati, S.3
Bettecken, T.4
Muller, C.R.5
Muller, B.6
-
32
-
-
77955084425
-
Mechanisms of genomic instabilities underlying two common fragile-site-associated loci, PARK2 and DMD, in germ cell and cancer cell lines
-
Mitsui, J., Takahashi, Y., Goto, J., Tomiyama, H., Ishikawa, S., Yoshino, H., Minami, N., Smith, D.I., Lesage, S., Aburatani, H. et al. (2012) Mechanisms of genomic instabilities underlying two common fragile-site-associated loci, PARK2 and DMD, in germ cell and cancer cell lines. Am. J. Hum. Genet., 87, 75-89.
-
(2012)
Am. J. Hum. Genet.
, vol.87
, pp. 75-89
-
-
Mitsui, J.1
Takahashi, Y.2
Goto, J.3
Tomiyama, H.4
Ishikawa, S.5
Yoshino, H.6
Minami, N.7
Smith, D.I.8
Lesage, S.9
Aburatani, H.10
-
33
-
-
84855319060
-
Aberrant firing of replication origins potentially explains intragenic nonrecurrent rearrangements within genes, including the human DMD gene
-
Ankala, A., Kohn, J.N., Hegde, A., Meka, A., Ephrem, C.L., Askree, S.H., Bhide, S. and Hegde, M.R. (2012) Aberrant firing of replication origins potentially explains intragenic nonrecurrent rearrangements within genes, including the human DMD gene. Genome Res., 22, 25-34.
-
(2012)
Genome Res.
, vol.22
, pp. 25-34
-
-
Ankala, A.1
Kohn, J.N.2
Hegde, A.3
Meka, A.4
Ephrem, C.L.5
Askree, S.H.6
Bhide, S.7
Hegde, M.R.8
-
34
-
-
75549087699
-
Genetics of mammalian meiosis: regulation, dynamics and impact on fertility
-
Handel, M.A. and Schimenti, J.C. (2012) Genetics of mammalian meiosis: regulation, dynamics and impact on fertility. Nat. Rev. Genet., 11, 124-136.
-
(2012)
Nat. Rev. Genet.
, vol.11
, pp. 124-136
-
-
Handel, M.A.1
Schimenti, J.C.2
-
35
-
-
0035190032
-
Trisomy 17p10-p12 resulting from a supernumerary marker chromosome derived from chromosome 17: molecular analysis and delineation of the phenotype
-
Stankiewicz, P., Parka, S.S., Holder, S.E., Waters, C.S., Palmer, R.W., Berend, S.A., Shaffer, L.G., Potocki, L. and Lupski, J.R. (2001) Trisomy 17p10-p12 resulting from a supernumerary marker chromosome derived from chromosome 17: molecular analysis and delineation of the phenotype. Clin. Genet., 60, 336-344.
-
(2001)
Clin. Genet.
, vol.60
, pp. 336-344
-
-
Stankiewicz, P.1
Parka, S.S.2
Holder, S.E.3
Waters, C.S.4
Palmer, R.W.5
Berend, S.A.6
Shaffer, L.G.7
Potocki, L.8
Lupski, J.R.9
-
36
-
-
78649764506
-
Rare copy number variants disrupt genes regulating vascular smooth muscle cell adhesion and contractility in sporadic thoracic aortic aneurysms and dissections
-
Prakash, S.K., LeMaire, S.A., Guo, D.C., Russell, L., Regalado, E.S., Golabbakhsh, H., Johnson, R.J., Safi, H.J., Estrera, A.L., Coselli, J.S. et al. (2010) Rare copy number variants disrupt genes regulating vascular smooth muscle cell adhesion and contractility in sporadic thoracic aortic aneurysms and dissections. Am. J. Hum. Genet., 87, 743-756.
-
(2010)
Am. J. Hum. Genet.
, vol.87
, pp. 743-756
-
-
Prakash, S.K.1
LeMaire, S.A.2
Guo, D.C.3
Russell, L.4
Regalado, E.S.5
Golabbakhsh, H.6
Johnson, R.J.7
Safi, H.J.8
Estrera, A.L.9
Coselli, J.S.10
|