Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis DR Rosen, T Siddique, D Patterson, DA Figlewicz, P Sapp, A Hentati, ... Nature 362 (6415), 59-62, 1993 | 8891 | 1993 |
Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis TJ Kwiatkowski Jr, DA Bosco, AL Leclerc, E Tamrazian, CR Vanderburg, ... Science 323 (5918), 1205-1208, 2009 | 3148 | 2009 |
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs B Devlin, JR Kelsoe, P Sklar, MJ Daly, MC O'Donovan, N Craddock, ... Nature genetics 45 (9), 984-994, 2013 | 2403 | 2013 |
Gene fusion with an ETS DNA-binding domain caused by chromosome translocation in human tumours O Delattre, J Zucman, B Plougastel, C Desmaze, T Melot, M Peter, ... Nature 359 (6391), 162-165, 1992 | 2143 | 1992 |
TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis E Kabashi, PN Valdmanis, P Dion, D Spiegelman, BJ McConkey, ... Nature genetics 40 (5), 572-574, 2008 | 1847 | 2008 |
Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies MA Nalls, C Blauwendraat, CL Vallerga, K Heilbron, S Bandres-Ciga, ... The Lancet Neurology 18 (12), 1091-1102, 2019 | 1836 | 2019 |
Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2 GA Rouleau, P Merel, M Lutchman, M Sanson, J Zucman, C Marineau, ... Nature 363 (6429), 515-521, 1993 | 1670 | 1993 |
Genome-wide association study identifies 30 loci associated with bipolar disorder EA Stahl, G Breen, AJ Forstner, A McQuillin, S Ripke, V Trubetskoy, ... Nature genetics 51 (5), 793-803, 2019 | 1470 | 2019 |
Analysis of shared heritability in common disorders of the brain Brainstorm Consortium, V Anttila, B Bulik-Sullivan, HK Finucane, ... Science 360 (6395), eaap8757, 2018 | 1454 | 2018 |
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2 SM Pulst, A Nechiporuk, T Nechiporuk, S Gispert, XN Chen, ... Nature genetics 14 (3), 269-276, 1996 | 1336 | 1996 |
Genomic relationships, novel loci, and pleiotropic mechanisms across eight psychiatric disorders PH Lee, V Anttila, H Won, YCA Feng, J Rosenthal, Z Zhu, EM Tucker-Drob, ... Cell 179 (7), 1469-1482. e11, 2019 | 1151 | 2019 |
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways ET Cirulli, BN Lasseigne, S Petrovski, PC Sapp, PA Dion, CS Leblond, ... Science 347 (6229), 1436-1441, 2015 | 1039 | 2015 |
Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology N Mullins, AJ Forstner, KS O’Connell, B Coombes, JRI Coleman, Z Qiao, ... Nature genetics 53 (6), 817-829, 2021 | 992 | 2021 |
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy B Brais, JP Bouchard, YG Xie, DL Rochefort, N Chrétien, FMS Tomé, ... Nature genetics 18 (2), 164-167, 1998 | 958 | 1998 |
A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2 S Hadano, CK Hand, H Osuga, Y Yanagisawa, A Otomo, RS Devon, ... Nature genetics 29 (2), 166-173, 2001 | 871 | 2001 |
Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy P Cossette, L Liu, K Brisebois, H Dong, A Lortie, M Vanasse, ... Nature genetics 31 (2), 184-189, 2002 | 826 | 2002 |
A genome-wide linkage and association scan reveals novel loci for autism LA Weiss, DE Arking, ... Nature 461 (7265), 802-808, 2009 | 808 | 2009 |
Von Hippel–Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma BR Seizinger, GA Rouleau, LJ Ozelius, AH Lane, GE Farmer, JM Lamiell, ... Nature 332 (6161), 268-269, 1988 | 802 | 1988 |
Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions J Winkelmann, B Schormair, P Lichtner, S Ripke, L Xiong, S Jalilzadeh, ... Nature genetics 39 (8), 1000-1006, 2007 | 792 | 2007 |
Risk factors for suicide completion in major depression: a case-control study of impulsive and aggressive behaviors in men A Dumais, AD Lesage, M Alda, G Rouleau, M Dumont, N Chawky, M Roy, ... American Journal of Psychiatry 162 (11), 2116-2124, 2005 | 772 | 2005 |