The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome L Crisponi, M Deiana, A Loi, F Chiappe, M Uda, P Amati, L Bisceglia, ... Nature genetics 27 (2), 159-166, 2001 | 1128 | 2001 |
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome T Niihori, Y Aoki, Y Narumi, G Neri, H Cavé, A Verloes, N Okamoto, ... Nature genetics 38 (3), 294-296, 2006 | 709 | 2006 |
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments CS Leblond, C Nava, A Polge, J Gauthier, G Huguet, S Lumbroso, ... PLoS genetics 10 (9), e1004580, 2014 | 671 | 2014 |
OPA1 mutations induce mitochondrial DNA instability and optic atrophy ‘plus’ phenotypes P Amati-Bonneau, ML Valentino, P Reynier, ME Gallardo, B Bornstein, ... Brain 131 (2), 338-351, 2008 | 591 | 2008 |
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11. 2 locus S Jacquemont, A Reymond, F Zufferey, L Harewood, RG Walters, ... Nature 478 (7367), 97-102, 2011 | 559 | 2011 |
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly K Poirier, N Lebrun, L Broix, G Tian, Y Saillour, C Boscheron, E Parrini, ... Nature genetics 45 (6), 639-647, 2013 | 521 | 2013 |
Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders CS Leblond, J Heinrich, R Delorme, C Proepper, C Betancur, G Huguet, ... PLoS genetics 8 (2), e1002521, 2012 | 494 | 2012 |
Multi-system neurological disease is common in patients with OPA1 mutations P Yu-Wai-Man, PG Griffiths, GS Gorman, CM Lourenco, AF Wright, ... Brain 133 (3), 771-786, 2010 | 470 | 2010 |
High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome V Bubien, F Bonnet, V Brouste, S Hoppe, E Barouk-Simonet, A David, ... Journal of medical genetics 50 (4), 255-263, 2013 | 438 | 2013 |
X–linked spastic paraplegia and Pelizaeus–Merzbacher disease are allelic disorders at the proteolipid protein locus P Saugier-Veber, A Munnich, D Bonneau, JM Rozet, M Le Merrer, R Gil, ... Nature genetics 6 (3), 257-262, 1994 | 434 | 1994 |
Mutations of the human PTEN gene D Bonneau, M Longy Human mutation 16 (2), 109-122, 2000 | 421 | 2000 |
Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract C Beaumont, P Leneuve, I Devaux, JY Scoazec, M Berthier, MN Loiseau, ... Nature genetics 11 (4), 444-446, 1995 | 372 | 1995 |
Mutations of ARX are associated with striking pleiotropy and consistent genotype–phenotype correlation M Kato, S Das, K Petras, K Kitamura, K Morohashi, DN Abuelo, M Barr, ... Human mutation 23 (2), 147-159, 2004 | 362 | 2004 |
Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome T Hearn, GL Renforth, C Spalluto, NA Hanley, K Piper, S Brickwood, ... Nature genetics 31 (1), 79-83, 2002 | 362 | 2002 |
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus C Stoetzel, V Laurier, EE Davis, J Muller, S Rix, JL Badano, CC Leitch, ... Nature genetics 38 (5), 521-524, 2006 | 352 | 2006 |
Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study DJH Moss, AF Pardiñas, D Langbehn, K Lo, BR Leavitt, R Roos, A Durr, ... The Lancet Neurology 16 (9), 701-711, 2017 | 333 | 2017 |
Positional cloning of a novel gene on chromosome 16q causing Bardet–Biedl syndrome (BBS2) DY Nishimura, CC Searby, R Carmi, K Elbedour, L Van Maldergem, ... Human Molecular Genetics 10 (8), 865-874, 2001 | 308 | 2001 |
Dominant optic atrophy G Lenaers, C Hamel, C Delettre, P Amati-Bonneau, V Procaccio, ... Orphanet journal of rare diseases 7, 1-12, 2012 | 304 | 2012 |
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing C Redin, B Gérard, J Lauer, Y Herenger, J Muller, A Quartier, ... Journal of medical genetics 51 (11), 724-736, 2014 | 303 | 2014 |
A gene predisposing to familial thyroid tumors with cell oxyphilia maps to chromosome 19p13. 2 F Canzian, P Amati, HR Harach, JL Kraimps, F Lesueur, J Barbier, ... The American Journal of Human Genetics 63 (6), 1743-1748, 1998 | 302 | 1998 |