| 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 | 7409 | 1993 |
| Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis TJ Kwiatkowski, DA Bosco, AL Leclerc, E Tamrazian, CR Vanderburg, ... Science 323 (5918), 1205-1208, 2009 | 2322 | 2009 |
| Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs SH Lee, S Ripke, BM Neale, SV Faraone, SM Purcell, RH Perlis, ... Nature genetics 45 (9), 984, 2013 | 1760 | 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 | 1745 | 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 | 1486 | 2008 |
| 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 | 1473 | 1993 |
| 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 | 1125 | 1996 |
| 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 | 823 | 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 | 756 | 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 | 694 | 2002 |
| 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 | 684 | 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 | 667 | 2007 |
| 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 | 660 | 2015 |
| A genome-wide linkage and association scan reveals novel loci for autism LA Weiss, DE Arking Nature 461 (7265), 802-808, 2009 | 654 | 2009 |
| Analysis of shared heritability in common disorders of the brain V Anttila, B Bulik-Sullivan, HK Finucane, RK Walters, J Bras, L Duncan, ... Science 360 (6395), 2018 | 639 | 2018 |
| 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 | 611 | 2005 |
| The FERM domain: a unique module involved in the linkage of cytoplasmic proteins to the membrane AH Chishti, AC Kim, SM Marfatia, M Lutchman, M Hanspal, H Jindal, ... Trends in biochemical sciences 23 (8), 281-282, 1998 | 595 | 1998 |
| Variation in genome-wide mutation rates within and between human families DF Conrad, JEM Keebler, MA DePristo, SJ Lindsay, Y Zhang, F Casals, ... Nature genetics 43 (7), 712, 2011 | 556 | 2011 |
| Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22 GA Rouleau, W Wertelecki, JL Haines, WJ Hobbs, JA Trofatter, ... Nature 329 (6136), 246-248, 1987 | 544 | 1987 |
| Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis DA Figlewicz, A Krizus, MG Martinoli, V Meininger, M Dib, GA Rouleau, ... Human molecular genetics 3 (10), 1757-1761, 1994 | 542 | 1994 |
