| Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism FK Satterstrom, JA Kosmicki, J Wang, MS Breen, S De Rubeis, JY An, ... Cell 180 (3), 568-584. e23, 2020 | 2056 | 2020 |
| Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A I Richard, O Broux, V Allamand, F Fougerousse, N Chiannilkulchai, ... Cell 81 (1), 27-40, 1995 | 1184 | 1995 |
| A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B R Bashir, S Britton, T Strachan, S Keers, E Vafiadaki, M Lako, I Richard, ... Nature genetics 20 (1), 37-42, 1998 | 824 | 1998 |
| Autosomal recessive limbgirdle muscular dystrophy, LGMD2F, is caused by a mutation in the δ–sarcoglycan gene V Nigro, ES Moreira, G Piluso, M Vainzof, A Belsito, L Politano, AA Puca, ... Nature genetics 14 (2), 195-198, 1996 | 553 | 1996 |
| 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 | 544 | 2021 |
| Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin ES Moreira, TJ Wiltshire, G Faulkner, A Nilforoushan, M Vainzof, ... Nature genetics 24 (2), 163-166, 2000 | 444 | 2000 |
| 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 | 391 | 2021 |
| Clinical spectrum of fibroblast growth factor receptor mutations MR Passos‐Bueno, WR Wilcox, EW Jabs, AL Sertie, LG Alonso, H Kitoh Human mutation 14 (2), 115-125, 1999 | 371 | 1999 |
| Rare coding variation provides insight into the genetic architecture and phenotypic context of autism JM Fu, FK Satterstrom, M Peng, H Brand, RL Collins, S Dong, B Wamsley, ... Nature genetics 54 (9), 1320-1331, 2022 | 362 | 2022 |
| Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure … AL Sertié, V Sossi, AMA Camargo, M Zatz, C Brahe, MR Passos-Bueno Human molecular genetics 9 (13), 2051-2058, 2000 | 326 | 2000 |
| RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity D Jenkins, D Seelow, FS Jehee, CA Perlyn, LG Alonso, DF Bueno, ... The American Journal of Human Genetics 80 (6), 1162-1170, 2007 | 304 | 2007 |
| Caveolin-3 in muscular dystrophy EM McNally, E de Sá Moreira, DJ Duggan, CG Bönnemann, MP Lisanti, ... Human molecular genetics 7 (5), 871-877, 1998 | 297 | 1998 |
| Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome GL Yamamoto, M Aguena, M Gos, C Hung, J Pilch, S Fahiminiya, ... Journal of medical genetics 52 (6), 413-421, 2015 | 287 | 2015 |
| Reconstruction of large cranial defects in nonimmunosuppressed experimental design with human dental pulp stem cells A de Mendonça Costa, DF Bueno, MT Martins, I Kerkis, A Kerkis, ... Journal of Craniofacial Surgery 19 (1), 204-210, 2008 | 281 | 2008 |
| Exomic variants of an elderly cohort of Brazilians in the ABraOM database MS Naslavsky, GL Yamamoto, TF de Almeida, SAM Ezquina, DY Sunaga, ... Human mutation 38 (7), 751-763, 2017 | 254 | 2017 |
| Stem cell proliferation under low intensity laser irradiation: a preliminary study FP Eduardo, DF Bueno, PM de Freitas, MM Marques, MR Passos‐Bueno, ... Lasers in Surgery and Medicine: The Official Journal of the American Society …, 2008 | 234 | 2008 |
| The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies M Vainzof, MR Passos-Bueno, M Canovas, ES Moreira, RCM Pavanello, ... Human molecular genetics 5 (12), 1963-1969, 1996 | 232 | 1996 |
| Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons K Griesi-Oliveira, A Acab, AR Gupta, DY Sunaga, T Chailangkarn, X Nicol, ... Molecular psychiatry 20 (11), 1350-1365, 2015 | 228 | 2015 |
| Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation EM McNally, MR Passos-Bueno, CG Bönnemann, M Vainzof, ... American journal of human genetics 59 (5), 1040, 1996 | 214 | 1996 |
| Serum creatine-kinase (CK) and pyruvate-kinase (PK) activities in Duchenne (DMD) as compared with Becker (BMD) muscular dystrophy M Zatz, D Rapaport, M Vainzof, MR Passos-Bueno, ER Bortolini, ... Journal of the neurological sciences 102 (2), 190-196, 1991 | 210 | 1991 |
