-
1
-
-
32844460938
-
Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans
-
Aitman TJ, Dong R, Vyse TJ, Norsworthy PJ, Johnson MD, Smith J, Mangion J, Roberton-Lowe C, Marshall AJ, Petretto E, et al. 2006. Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans. Nature 439: 851-855.
-
(2006)
Nature
, vol.439
, 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
-
2
-
-
0033361765
-
Chromosome breakage in the prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints
-
DOI 10.1086/302510
-
Amos-Landgraf JM, Ji Y, Gottlieb W, Depinet T, Wandstrat AE, Cassidy SB, Driscoll DJ, Rogan PK, Schwartz S, Nicholls RD. 1999. Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints. Am J Hum Genet 65: 370-386. (Pubitemid 30462995)
-
(1999)
American Journal of Human Genetics
, vol.65
, Issue.2
, pp. 370-386
-
-
Amos-Landgraf, J.M.1
Yonggang, J.2
Gottlieb, W.3
Depinet, T.4
Wandstrat, A.E.5
Cassidy, S.B.6
Driscoll, D.J.7
Rogan, P.K.8
Schwartz, S.9
Nicholls, R.D.10
-
3
-
-
0034831138
-
Segmental duplications: Organization and impact within the current human genome project assembly
-
Bailey JA, Yavor AM, Massa HF, Trask BJ, Eichler EE. 2001. Segmental duplications: Organization and impact within the current human genome project assembly. Genome Res 11: 1005-1017.
-
(2001)
Genome Res
, vol.11
, pp. 1005-1017
-
-
Bailey, J.A.1
Yavor, A.M.2
Massa, H.F.3
Trask, B.J.4
Eichler, E.E.5
-
4
-
-
27444447025
-
Clinical features of 78 adults with 22q11 deletion syndrome
-
DOI 10.1002/ajmg.a.30984
-
Bassett AS, Chow EW, Husted J, Weksberg R, Caluseriu O, Webb GD, Gatzoulis MA. 2005. Clinical features of 78 adults with 22q11 deletion syndrome. Am J Med Genet A 138: 307-313. (Pubitemid 41532946)
-
(2005)
American Journal of Medical Genetics
, vol.138 A
, Issue.4
, pp. 307-313
-
-
Bassett, A.S.1
Chow, E.W.C.2
Husted, J.3
Weksberg, R.4
Caluseriu, O.5
Webb, G.D.6
Gatzoulis, M.A.7
-
5
-
-
67449114040
-
Microdeletion 15q13.3: A locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders
-
Ben-Shachar S, Lanpher B, German JR, Qasaymeh M, Potocki L, Nagamani SC, Franco LM, Malphrus A, Bottenfield GW, Spence JE, et al. 2009. Microdeletion 15q13.3: A locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders. J Med Genet 46: 382-388.
-
(2009)
J Med Genet
, vol.46
, pp. 382-388
-
-
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, G.W.9
Spence, J.E.10
-
6
-
-
67349083547
-
Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals
-
Bijlsma EK, Gijsbers AC, Schuurs-Hoeijmakers JH, van Haeringen A, Fransen van de Putte DE, Anderlid BM, Lundin J, Lapunzina P, Perez Jurado LA, Delle Chiaie B, et al. 2009. Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals. Eur J Med Genet 52: 77-87.
-
(2009)
Eur J Med Genet
, vol.52
, pp. 77-87
-
-
Bijlsma, E.K.1
Gijsbers, A.C.2
Schuurs-Hoeijmakers, J.H.3
Van Haeringen, A.4
Fransen Van De Putte, D.E.5
Anderlid, B.M.6
Lundin, J.7
Lapunzina, P.8
Perez Jurado, L.A.9
Delle Chiaie, B.10
-
7
-
-
76349083132
-
Large, rare chromosomal deletions associated with severe early-onset obesity
-
Bochukova EG, Huang N, Keogh J, Henning E, Purmann C, Blaszczyk K, Saeed S, Hamilton-Shield J, Clayton-Smith J, O'Rahilly S, et al. 2010. Large, rare chromosomal deletions associated with severe early-onset obesity. Nature 463: 666-670.
-
(2010)
Nature
, vol.463
, pp. 666-670
-
-
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
O'Rahilly, S.10
-
8
-
-
0038419517
-
A population-based study of the 22q11.2 deletion: Phenotype, incidence, and contribution to major birth defects in the population
-
Botto LD, May K, Fernhoff PM, Correa A, Coleman K, Rasmussen SA, Merritt RK, O'Leary LA, Wong LY, Elixson EM, et al. 2003. A population-based study of the 22q11.2 deletion: Phenotype, incidence, and contribution to major birth defects in the population. Pediatrics 112: 101-107.
-
(2003)
Pediatrics
, vol.112
, pp. 101-107
-
-
Botto, L.D.1
May, K.2
Fernhoff, P.M.3
Correa, A.4
Coleman, K.5
Rasmussen, S.A.6
Merritt, R.K.7
O'Leary, L.A.8
Wong, L.Y.9
Elixson, E.M.10
-
9
-
-
67651233780
-
Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes
-
doi: 10.1371/journal.pgen.1000536
-
Bucan M, Abrahams BS, Wang K, Glessner JT, Herman EI, Sonnenblick LI, Alvarez Retuerto AI, Imielinski M, Hadley D, Bradfield JP, et al. 2009. Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. PLoS Genet 5: e1000536. doi: 10.1371/journal.pgen.1000536.
-
(2009)
PLoS Genet
, vol.5
-
-
Bucan, M.1
Abrahams, B.S.2
Wang, K.3
Glessner, J.T.4
Herman, E.I.5
Sonnenblick, L.I.6
Alvarez Retuerto, A.I.7
Imielinski, M.8
Hadley, D.9
Bradfield, J.P.10
-
10
-
-
24344459066
-
A genome-wide comparison of recent chimpanzee and human segmental duplications
-
DOI 10.1038/nature04000, PII N04000
-
Cheng Z, Ventura M, She X, Khaitovich P, Graves T, Osoegawa K, Church D, DeJong P, Wilson RK, Paabo S, et al. 2005. A genome-wide comparison of recent chimpanzee and human segmental duplications. Nature 437: 88-93. (Pubitemid 41613429)
-
(2005)
Nature
, vol.437
, Issue.7055
, pp. 88-93
-
-
Cheng, Z.1
Ventura, M.2
She, X.3
Khaitovich, P.4
Graves, T.5
Osoegawa, K.6
Church, D.7
DeJong, P.8
Wilson, R.K.9
Paabo, S.10
Rocchi, M.11
Eichler, E.E.12
-
11
-
-
24344500211
-
Initial sequence of the chimpanzee genome and comparison with the human genome
-
The Chimpanzee Sequencing and Analysis Consortium
-
The Chimpanzee Sequencing and Analysis Consortium. 2005. Initial sequence of the chimpanzee genome and comparison with the human genome. Nature 437: 69-87.
-
(2005)
Nature
, vol.437
, pp. 69-87
-
-
-
12
-
-
77950461601
-
Origins and functional impact of copy number variation in the human genome
-
Conrad DF, Pinto D, Redon R, Feuk L, Gokcumen O, Zhang Y, Aerts J, Andrews TD, Barnes C, Campbell P, et al. 2009. Origins and functional impact of copy number variation in the human genome. Nature 464: 704-712.
-
(2009)
Nature
, vol.464
, pp. 704-712
-
-
Conrad, D.F.1
Pinto, D.2
Redon, R.3
Feuk, L.4
Gokcumen, O.5
Zhang, Y.6
Aerts, J.7
Andrews, T.D.8
Barnes, C.9
Campbell, P.10
-
13
-
-
52949093111
-
Systematic assessment of copy number variant detection via genome-wide SNP genotyping
-
Cooper GM, Zerr T, Kidd JM, Eichler EE, Nickerson DA. 2008. Systematic assessment of copy number variant detection via genome-wide SNP genotyping. Nat Genet 40: 1199-1203.
-
(2008)
Nat Genet
, vol.40
, pp. 1199-1203
-
-
Cooper, G.M.1
Zerr, T.2
Kidd, J.M.3
Eichler, E.E.4
Nickerson, D.A.5
-
15
-
-
0034303523
-
The origins, patterns and implications of human spontaneous mutation
-
Crow JF. 2000. The origins, patterns and implications of human spontaneous mutation. Nat Rev Genet 1: 40-47.
-
(2000)
Nat Rev Genet
, vol.1
, pp. 40-47
-
-
Crow, J.F.1
-
16
-
-
25444432040
-
Diagnostic genome profiling in mental retardation
-
de Vries BB, Pfundt R, Leisink M, Koolen DA, Vissers LE, Janssen IM, Reijmersdal S, Nillesen WM, Huys EH, Leeuw N, et al. 2005. Diagnostic genome profiling in mental retardation. Am J Hum Genet 77: 606-616.
-
(2005)
Am J Hum Genet
, vol.77
, pp. 606-616
-
-
De Vries, B.B.1
Pfundt, R.2
Leisink, M.3
Koolen, D.A.4
Vissers, L.E.5
Janssen, I.M.6
Reijmersdal, S.7
Nillesen, W.M.8
Huys, E.H.9
Leeuw, N.10
-
17
-
-
17244379811
-
Complement factor H polymorphism and age-related macular degeneration
-
DOI 10.1126/science.1110189
-
Edwards AO, Ritter R III, Abel KJ, Manning A, Panhuysen C, Farrer LA. 2005. Complement factor H polymorphism and age-related macular degeneration. Science 308: 421-424. (Pubitemid 40530082)
-
(2005)
Science
, vol.308
, Issue.5720
, pp. 421-424
-
-
Edwards, A.O.1
Ritter III, R.2
Abel, K.J.3
Manning, A.4
Panhuysen, C.5
Farrer, L.A.6
-
18
-
-
33748558056
-
A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon
-
Fellermann K, Stange DE, Schaeffeler E, Schmalzl H, Wehkamp J, Bevins CL, Reinisch W, Teml A, Schwab M, Lichter P, et al. 2006. A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon. Am J Hum Genet 79: 439-448.
-
(2006)
Am J Hum Genet
, vol.79
, 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
-
19
-
-
77649122250
-
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
-
Girirajan S, Rosenfeld JA, Cooper GM, Antonacci F, Siswara P, Itsara A, Vives L, Walsh T, McCarthy SE, Baker C, et al. 2010. A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet 42: 203-209.
-
(2010)
Nat Genet
, vol.42
, pp. 203-209
-
-
Girirajan, S.1
Rosenfeld, J.A.2
Cooper, G.M.3
Antonacci, F.4
Siswara, P.5
Itsara, A.6
Vives, L.7
Walsh, T.8
McCarthy, S.E.9
Baker, C.10
-
20
-
-
0031671548
-
A population study of chromosome 22q11 deletions in infancy
-
Goodship J, Cross I, LiLing J, Wren C. 1998. A population study of chromosome 22q11 deletions in infancy. Arch Dis Child 79: 348-351. (Pubitemid 28436089)
-
(1998)
Archives of Disease in Childhood
, vol.79
, Issue.4
, pp. 348-351
-
-
Goodship, J.1
Cross, I.2
Liling, J.3
Wren, C.4
-
22
-
-
70149094161
-
Genome-wide association study implicates chromosome 9q21.31 as a susceptibility locus for asthma in Mexican children
-
doi: 10.1371/journal.pgen.1000623
-
Hancock DB, Romieu I, Shi M, Sienra-Monge JJ, Wu H, Chiu GY, Li H, del Rio-Navarro BE, Willis-Owen SA, Weiss ST, et al. 2009. Genome-wide association study implicates chromosome 9q21.31 as a susceptibility locus for asthma in Mexican children. PLoS Genet 5: e1000623. doi: 10.1371/journal.pgen.1000623.
-
(2009)
PLoS Genet
, vol.5
-
-
Hancock, D.B.1
Romieu, I.2
Shi, M.3
Sienra-Monge, J.J.4
Wu, H.5
Chiu, G.Y.6
Li, H.7
Del Rio-Navarro, B.E.8
Willis-Owen, S.A.9
Weiss, S.T.10
-
23
-
-
4544265363
-
A systematic study of the clinical and biochemical expression of variegate porphyria in a large South African family
-
DOI 10.1111/j.1365-2133.2004.06120.x
-
Hift RJ, Meissner D, Meissner PN. 2004. A systematic study of the clinical and biochemical expression of variegate porphyria in a large South African family. Br J Dermatol 151: 465-471. (Pubitemid 39215161)
-
(2004)
British Journal of Dermatology
, vol.151
, Issue.2
, pp. 465-471
-
-
Hift, R.J.1
Meissner, D.2
Meissner, P.N.3
-
24
-
-
79959524146
-
A haplotype map of the human genome
-
The International HapMap Consortium
-
The International HapMap Consortium. 2005. A haplotype map of the human genome. Nature 437: 1299-1320.
-
(2005)
Nature
, vol.437
, pp. 1299-1320
-
-
-
25
-
-
51649107017
-
Rare chromosomal deletions and duplications increase risk of schizophrenia
-
The International Schizophrenia Consortium
-
The International Schizophrenia Consortium. 2008. Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature 455: 237-241.
-
(2008)
Nature
, vol.455
, pp. 237-241
-
-
-
26
-
-
62649088108
-
Population analysis of large copy number variants and hotspots of human genetic disease
-
Itsara A, Cooper GM, Baker C, Girirajan S, Li J, Absher D, Krauss RM, Myers RM, Ridker PM, Chasman DI, et al. 2009. Population analysis of large copy number variants and hotspots of human genetic disease. Am J Hum Genet 84: 148-161.
-
(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
-
27
-
-
43049143055
-
Mapping and sequencing of structural variation from eight human genomes
-
Kidd JM, Cooper GM, Donahue WF, Hayden HS, Sampas N, Graves T, Hansen N, Teague B, Alkan C, Antonacci F, et al. 2008. Mapping and sequencing of structural variation from eight human genomes. Nature 453: 56-64.
-
(2008)
Nature
, vol.453
, 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
-
28
-
-
35348822545
-
Velocardiofacial syndrome, DiGeorge syndrome: The chromosome 22q11.2 deletion syndromes
-
DOI 10.1016/S0140-6736(07)61601-8, PII S0140673607616018
-
Kobrynski LJ, Sullivan KE. 2007. Velocardiofacial syndrome, DiGeorge syndrome: The chromosome 22q11.2 deletion syndromes. Lancet 370: 1443-1452. (Pubitemid 47576169)
-
(2007)
Lancet
, vol.370
, Issue.9596
, pp. 1443-1452
-
-
Kobrynski, L.J.1
Sullivan, K.E.2
-
29
-
-
0037224621
-
Direct estimates of human per nucleotide mutation rates at 20 loci causing Mendelian diseases
-
Kondrashov AS. 2003. Direct estimates of human per nucleotide mutation rates at 20 loci causing Mendelian diseases. Hum Mutat 21: 12-27.
-
(2003)
Hum Mutat
, vol.21
, pp. 12-27
-
-
Kondrashov, A.S.1
-
30
-
-
35348988679
-
Paired-end mapping reveals extensive structural variation in the human genome
-
Korbel JO, Urban AE, Affourtit JP, Godwin B, Grubert F, Simons JF, Kim PM, Palejev D, Carriero NJ, Du L, et al. 2007. Paired-end mapping reveals extensive structural variation in the human genome. Science 318: 420-426.
-
(2007)
Science
, vol.318
, 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
-
31
-
-
38849126088
-
Recurrent 16p11.2 microdeletions in autism
-
Kumar RA, KaraMohamed S, Sudi J, Conrad DF, Brune C, Badner JA, Gilliam TC, Nowak NJ, Cook EH Jr, Dobyns WB, et al. 2008. Recurrent 16p11.2 microdeletions in autism. Hum Mol Genet 17: 628-638.
-
(2008)
Hum Mol Genet
, vol.17
, 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
-
32
-
-
18544384537
-
Haploinsufficiency 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, et al. 2002. Haploinsufficiency of NSD1 causes Sotos syndrome. Nat Genet 30: 365-366.
-
(2002)
Nat Genet
, vol.30
, pp. 365-366
-
-
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
-
33
-
-
37349109667
-
A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders
-
Lee JA, Carvalho CM, Lupski JR. 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
-
34
-
-
34347349069
-
Genomic rearrangements and sporadic disease
-
Lupski JR. 2007. Genomic rearrangements and sporadic disease. Nat Genet 39: S43-S47.
-
(2007)
Nat Genet
, vol.39
-
-
Lupski, J.R.1
-
35
-
-
0025868571
-
DNA duplication associated with Charcot-Marie-Tooth disease type 1A
-
Lupski JR, de Oca-Luna RM, Slaugenhaupt S, Pentao L, Guzzetta V, Trask BJ, Saucedo-Cardenas O, Barker DF, Killian JM, Garcia CA, et al. 1991. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 66: 219-232. (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
-
36
-
-
52949141845
-
Integrated detection and population-genetic analysis of SNPs and copy number variation
-
McCarroll SA, Kuruvilla FG, Korn JM, Cawley S, Nemesh J, Wysoker A, Shapero MH, de Bakker PI, Maller JB, Kirby A, et al. 2008. Integrated detection and population-genetic analysis of SNPs and copy number variation. Nat Genet 40: 1166-1174.
-
(2008)
Nat Genet
, vol.40
, pp. 1166-1174
-
-
McCarroll, S.A.1
Kuruvilla, F.G.2
Korn, J.M.3
Cawley, S.4
Nemesh, J.5
Wysoker, A.6
Shapero, M.H.7
De Bakker, P.I.8
Maller, J.B.9
Kirby, A.10
-
38
-
-
0035746391
-
Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: Cast a wide FISHing net!
-
McDonald-McGinn DM, Tonnesen MK, Laufer-Cahana A, Finucane B, Driscoll DA, Emanuel BS, Zackai EH. 2001. Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: Cast a wide FISHing net! Genet Med 3: 23-29.
-
(2001)
Genet Med
, vol.3
, pp. 23-29
-
-
McDonald-McGinn, D.M.1
Tonnesen, M.K.2
Laufer-Cahana, A.3
Finucane, B.4
Driscoll, D.A.5
Emanuel, B.S.6
Zackai, E.H.7
-
39
-
-
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., et al. 2008. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med.359: 1685-1699.
-
(2008)
N Engl J Med.
, vol.359
, pp. 1685-1699
-
-
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
-
40
-
-
44949201115
-
A genome-wide association study identifies protein quantitative trait loci (pQTLs)
-
doi: 10.1371/journal.pgen.1000072
-
Melzer D, Perry JR, Hernandez D, Corsi AM, Stevens K, Rafferty I, Lauretani F, Murray A, Gibbs JR, Paolisso G, et al. 2008. A genome-wide association study identifies protein quantitative trait loci (pQTLs). PLoS Genet 4: e1000072. doi: 10.1371/journal.pgen.1000072.
-
(2008)
PLoS Genet
, vol.4
-
-
Melzer, D.1
Perry, J.R.2
Hernandez, D.3
Corsi, A.M.4
Stevens, K.5
Rafferty, I.6
Lauretani, F.7
Murray, A.8
Gibbs, J.R.9
Paolisso, G.10
-
41
-
-
65949085347
-
Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders
-
Miller DT, Shen Y, Weiss LA, Korn J, Anselm I, Bridgemohan C, Cox GF, Dickinson H, Gentile J, Harris DJ, et al. 2009. Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. J Med Genet 46: 242-248.
-
(2009)
J Med Genet
, vol.46
, pp. 242-248
-
-
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
-
43
-
-
0033828761
-
Estimate of the mutation rate per nucleotide in humans
-
Nachman MW, Crowell SL. 2000. Estimate of the mutation rate per nucleotide in humans. Genetics 156: 297-304.
-
(2000)
Genetics
, vol.156
, pp. 297-304
-
-
Nachman, M.W.1
Crowell, S.L.2
-
44
-
-
0842327784
-
Incidence and prevalence of the 22q11 deletion syndrome: A population-based study in Western Sweden
-
DOI 10.1136/adc.2003.026880
-
Oskarsdottir S, Vujic M, Fasth A. 2004. Incidence and prevalence of the 22q11 deletion syndrome: A population-based study in western Sweden. Arch Dis Child 89: 148-151. (Pubitemid 38168974)
-
(2004)
Archives of Disease in Childhood
, vol.89
, Issue.2
, pp. 148-151
-
-
Oskarsdottir, S.1
Vujic, M.2
Fasth, A.3
-
45
-
-
43149121837
-
Negative selection on BRCA1 susceptibility alleles sheds light on the population genetics of late-onset diseases and aging theory
-
doi: 10.1371/journal.pone. 0001206
-
Pavard S, Metcalf CJ. 2007. Negative selection on BRCA1 susceptibility alleles sheds light on the population genetics of late-onset diseases and aging theory. PLoS ONE 2: e1206. doi: 10.1371/journal.pone. 0001206.
-
(2007)
PLoS ONE
, vol.2
-
-
Pavard, S.1
Metcalf, C.J.2
-
46
-
-
77951799158
-
Analysis of genetic inheritance in a family quartet by whole-genome sequencing
-
Roach JC, Glusman G, Smit AF, Huff CD, Hubley R, Shannon PT, Rowen L, Pant KP, Goodman N, Bamshad M, et al. 2010. Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science 328: 636-639.
-
(2010)
Science
, vol.328
, pp. 636-639
-
-
Roach, J.C.1
Glusman, G.2
Smit, A.F.3
Huff, C.D.4
Hubley, R.5
Shannon, P.T.6
Rowen, L.7
Pant, K.P.8
Goodman, N.9
Bamshad, M.10
-
47
-
-
34247481814
-
Strong association of de novo copy number mutations with autism
-
Sebat J, Lakshmi B, Malhotra D, Troge J, Lese-Martin C, Walsh T, Yamrom B, Yoon S, Krasnitz A, Kendall J, et al. 2007. Strong association of de novo copy number mutations with autism. Science 316: 445-449.
-
(2007)
Science
, vol.316
, 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
-
48
-
-
33748333194
-
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome
-
Sharp AJ, Hansen S, Selzer RR, Cheng Z, Regan R, Hurst JA, Stewart H, Price SM, Blair E, Hennekam RC, et al. 2006. Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat Genet 38: 1038-1042.
-
(2006)
Nat Genet
, vol.38
, 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
-
49
-
-
33846531959
-
Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals
-
Simon-Sanchez J, Scholz S, Fung HC, Matarin M, Hernandez D, Gibbs JR, Britton A, de Vrieze FW, Peckham E, Gwinn-Hardy K, et al. 2007. Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals. Hum Mol Genet 16: 1-14.
-
(2007)
Hum Mol Genet
, vol.16
, pp. 1-14
-
-
Simon-Sanchez, J.1
Scholz, S.2
Fung, H.C.3
Matarin, M.4
Hernandez, D.5
Gibbs, J.R.6
Britton, A.7
De Vrieze, F.W.8
Peckham, E.9
Gwinn-Hardy, K.10
-
50
-
-
44249121777
-
Novel microdeletion syndromes detected by chromosome microarrays
-
Slavotinek AM. 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
-
51
-
-
18344383720
-
Allergies in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome) and patients with chronic granulomatous disease
-
DOI 10.1111/j.1399-3038.2005.00259.x
-
Staple L, Andrews T, McDonald-McGinn D, Zackai E, Sullivan KE. 2005. Allergies in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome) and patients with chronic granulomatous disease. Pediatr Allergy Immunol 16: 226-230. (Pubitemid 40638049)
-
(2005)
Pediatric Allergy and Immunology
, vol.16
, Issue.3
, pp. 226-230
-
-
Staple, L.1
Andrews, T.2
McDonald-McGinn, D.3
Zackai, E.4
Sullivan, K.E.5
-
52
-
-
49949085933
-
Large recurrent microdeletions associated with schizophrenia
-
Stefansson H, Rujescu D, Cichon S, Pietilainen OP, Ingason A, Steinberg S, Fossdal R, Sigurdsson E, Sigmundsson T, Buizer-Voskamp JE, et al. 2008. Large recurrent microdeletions associated with schizophrenia. Nature 455: 232-236.
-
(2008)
Nature
, vol.455
, pp. 232-236
-
-
Stefansson, H.1
Rujescu, D.2
Cichon, S.3
Pietilainen, O.P.4
Ingason, A.5
Steinberg, S.6
Fossdal, R.7
Sigurdsson, E.8
Sigmundsson, T.9
Buizer-Voskamp, J.E.10
-
53
-
-
0025337866
-
The estimation of selection coefficients in Afrikaners: Huntington disease, porphyria variegata, and lipoid proteinosis
-
Stine OC, Smith KD. 1990. The estimation of selection coefficients in Afrikaners: Huntington disease, porphyria variegata, and lipoid proteinosis. Am J Hum Genet 46: 452-458. (Pubitemid 20103084)
-
(1990)
American Journal of Human Genetics
, vol.46
, Issue.3
, pp. 452-458
-
-
Stine, O.C.1
Smith, K.D.2
-
54
-
-
33847327313
-
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
-
Szatmari P, Paterson AD, Zwaigenbaum L, Roberts W, Brian J, Liu XQ, Vincent JB, Skaug JL, Thompson AP, Senman L, et al. 2007. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet 39: 319-328.
-
(2007)
Nat Genet
, vol.39
, pp. 319-328
-
-
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
-
55
-
-
37549018501
-
Germline rates of de novo meiotic deletions and duplications causing several genomic disorders
-
Turner DJ, Miretti M, Rajan D, Fiegler H, Carter NP, Blayney ML, Beck S, Hurles ME. 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
-
56
-
-
22844451617
-
Fine-scale structural variation of the human genome
-
DOI 10.1038/ng1562
-
Tuzun E, Sharp AJ, Bailey JA, Kaul R, Morrison VA, Pertz LM, Haugen E, Hayden H, Albertson D, Pinkel D, et al. 2005. Fine-scale structural variation of the human genome. Nat Genet 37: 727-732. (Pubitemid 41754889)
-
(2005)
Nature Genetics
, vol.37
, Issue.7
, pp. 727-732
-
-
Tuzun, E.1
Sharp, A.J.2
Bailey, J.A.3
Kaul, R.4
Morrison, V.A.5
Pertz, L.M.6
Haugen, E.7
Hayden, H.8
Albertson, D.9
Pinkel, D.10
Olson, M.V.11
Eichler, E.E.12
-
57
-
-
16844371343
-
Frequency of new copy number variation in humans
-
van Ommen GJ. 2005. Frequency of new copy number variation in humans. Nat Genet 37: 333-334.
-
(2005)
Nat Genet
, vol.37
, pp. 333-334
-
-
Van Ommen, G.J.1
-
58
-
-
33645733702
-
Autism spectrum disorders in Prader-Willi and Angelman syndromes: A systematic review
-
Veltman MW, Craig EE, Bolton PF. 2005. Autism spectrum disorders in Prader-Willi and Angelman syndromes: A systematic review. Psychiatr Genet 15: 243-254.
-
(2005)
Psychiatr Genet
, vol.15
, pp. 243-254
-
-
Veltman, M.W.1
Craig, E.E.2
Bolton, P.F.3
-
59
-
-
42349088634
-
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia
-
Walsh T, McClellan JM, McCarthy SE, Addington AM, Pierce SB, Cooper GM, Nord AS, Kusenda M, Malhotra D, Bhandari A, et al. 2008. Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science 320: 539-543.
-
(2008)
Science
, vol.320
, pp. 539-543
-
-
Walsh, T.1
McClellan, J.M.2
McCarthy, S.E.3
Addington, A.M.4
Pierce, S.B.5
Cooper, G.M.6
Nord, A.S.7
Kusenda, M.8
Malhotra, D.9
Bhandari, A.10
-
60
-
-
76249116215
-
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2
-
Walters RG, Jacquemont S, Valsesia A, de Smith AJ, Martinet D, Andersson J, Falchi M, Chen F, Andrieux J, Lobbens S, et al. 2010. A new highly penetrant form of obesity due to deletions on chromosome 16p11.2. Nature 463: 671-675.
-
(2010)
Nature
, vol.463
, pp. 671-675
-
-
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
-
61
-
-
39049163023
-
Association between microdeletion and microduplication at 16p11.2 and autism
-
Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, Fossdal R, Saemundsen E, Stefansson H, Ferreira MA, Green T, et al. 2008. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med 358: 667-675.
-
(2008)
N Engl J Med
, vol.358
, 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.9
Green, T.10
-
62
-
-
46249093584
-
Strong association of de novo copy number mutations with sporadic schizophrenia
-
DOI 10.1038/ng.162, PII NG162
-
Xu B, Roos JL, Levy S, van Rensburg EJ, Gogos JA, Karayiorgou M. 2008. Strong association of de novo copy number mutations with sporadic schizophrenia. Nat Genet 40: 880-885. (Pubitemid 351913650)
-
(2008)
Nature Genetics
, vol.40
, Issue.7
, pp. 880-885
-
-
Xu, B.1
Roos, J.L.2
Levy, S.3
Van Rensburg, E.J.4
Gogos, J.A.5
Karayiorgou, M.6
-
63
-
-
34547886497
-
A unified genetic theory for sporadic and inherited autism
-
DOI 10.1073/pnas.0705803104
-
Zhao X, Leotta A, Kustanovich V, Lajonchere C, Geschwind DH, Law K, Law P, Qiu S, Lord C, Sebat J, et al. 2007. A unified genetic theory for sporadic and inherited autism. Proc Natl Acad Sci 104: 12831-12836. (Pubitemid 47255240)
-
(2007)
Proceedings of the National Academy of Sciences of the United States of America
, vol.104
, Issue.31
, pp. 12831-12836
-
-
Zhao, X.1
Leotta, A.2
Kustanovich, V.3
Lajonchere, C.4
Geschwind, D.H.5
Law, K.6
Law, P.7
Qiu, S.8
Lord, C.9
Sebat, J.10
Ye, K.11
Wigler, M.12
|