Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers KB Kuchenbaecker, JL Hopper, DR Barnes, KA Phillips, TM Mooij, ... Jama 317 (23), 2402-2416, 2017 | 2957 | 2017 |
The revised Ghent nosology for the Marfan syndrome BL Loeys, HC Dietz, AC Braverman, BL Callewaert, J De Backer, ... Journal of medical genetics 47 (7), 476-485, 2010 | 2487 | 2010 |
Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome V Bonadona, B Bonaïti, S Olschwang, S Grandjouan, L Huiart, M Longy, ... Jama 305 (22), 2304-2310, 2011 | 1336 | 2011 |
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer SE Bojesen, KA Pooley, SE Johnatty, J Beesley, K Michailidou, JP Tyrer, ... Nature genetics 45 (4), 371-384, 2013 | 657 | 2013 |
Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study L Faivre, G Collod-Beroud, BL Loeys, A Child, C Binquet, E Gautier, ... The American Journal of Human Genetics 81 (3), 454-466, 2007 | 622 | 2007 |
A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma C Bertolotto, F Lesueur, S Giuliano, T Strub, M De Lichy, K Bille, P Dessen, ... Nature 480 (7375), 94-98, 2011 | 616 | 2011 |
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling GI Rice, Y del Toro Duany, EM Jenkinson, GMA Forte, BH Anderson, ... Nature genetics 46 (5), 503-509, 2014 | 609 | 2014 |
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 | 541 | 2011 |
Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation A Guilmatre, C Dubourg, AL Mosca, S Legallic, A Goldenberg, ... Archives of general psychiatry 66 (9), 947-956, 2009 | 535 | 2009 |
Autoantibodies neutralizing type I IFNs are present in~ 4% of uninfected individuals over 70 years old and account for~ 20% of COVID-19 deaths P Bastard, A Gervais, T Le Voyer, J Rosain, Q Philippot, J Manry, ... Science immunology 6 (62), eabl4340, 2021 | 501 | 2021 |
Mutation spectrum and splicing variants in the OPA1 gene C Delettre, JM Griffoin, J Kaplan, H Dollfus, B Lorenz, L Faivre, G Lenaers, ... Human genetics 109, 584-591, 2001 | 464 | 2001 |
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy CL Navarro, A De Sandre-Giovannoli, R Bernard, I Boccaccio, A Boyer, ... Human molecular genetics 13 (20), 2493-2503, 2004 | 428 | 2004 |
Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux CF Bartels, H Bükülmez, P Padayatti, DK Rhee, C van Ravenswaaij-Arts, ... The American Journal of Human Genetics 75 (1), 27-34, 2004 | 407 | 2004 |
Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer RL Milne, KB Kuchenbaecker, K Michailidou, J Beesley, S Kar, ... Nature genetics 49 (12), 1767-1778, 2017 | 391 | 2017 |
Germline deletion of the miR-17∼ 92 cluster causes skeletal and growth defects in humans L de Pontual, E Yao, P Callier, L Faivre, V Drouin, S Cariou, ... Nature genetics 43 (10), 1026-1030, 2011 | 370 | 2011 |
X-linked recessive TLR7 deficiency in~ 1% of men under 60 years old with life-threatening COVID-19 T Asano, B Boisson, F Onodi, D Matuozzo, M Moncada-Velez, ... Science immunology 6 (62), eabl4348, 2021 | 368 | 2021 |
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases C Cluzeau, S Hadj‐Rabia, M Jambou, S Mansour, P Guigue, S Masmoudi, ... Human mutation 32 (1), 70-72, 2011 | 360 | 2011 |
Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk FJ Couch, X Wang, L McGuffog, A Lee, C Olswold, KB Kuchenbaecker, ... PLoS genetics 9 (3), e1003212, 2013 | 336 | 2013 |
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome N Dagoneau, C Benoist-Lasselin, C Huber, L Faivre, A Mégarbané, ... The American Journal of Human Genetics 75 (5), 801-806, 2004 | 331 | 2004 |
In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome L Faivre, RJ Gorlin, MK Wirtz, M Godfrey, N Dagoneau, JR Samples, ... Journal of medical genetics 40 (1), 34-36, 2003 | 323 | 2003 |