| Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome KC Kurek, VL Luks, UM Ayturk, AI Alomari, SJ Fishman, SA Spencer, ... The American Journal of Human Genetics 90 (6), 1108-1115, 2012 | 539 | 2012 |
| 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 | 259 | 2015 |
| 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 | 233 | 2017 |
| Discordant congenital Zika syndrome twins show differential in vitro viral susceptibility of neural progenitor cells LC Caires-Júnior, E Goulart, US Melo, BHS Araujo, L Alvizi, ... Nature communications 9 (1), 475, 2018 | 124 | 2018 |
| Bi-allelic CSF1R mutations cause skeletal dysplasia of dysosteosclerosis-pyle disease spectrum and degenerative encephalopathy with brain malformation L Guo, DR Bertola, A Takanohashi, A Saito, Y Segawa, T Yokota, ... The American Journal of Human Genetics 104 (5), 925-935, 2019 | 114 | 2019 |
| Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome E Dikoglu, A Alfaiz, M Gorna, D Bertola, JH Chae, TJ Cho, M Derbent, ... American journal of medical genetics Part A 167 (7), 1501-1509, 2015 | 77 | 2015 |
| Whole-genome sequencing of 1,171 elderly admixed individuals from Brazil MS Naslavsky, MO Scliar, GL Yamamoto, JYT Wang, S Zverinova, T Karp, ... Nature communications 13 (1), 1004, 2022 | 76 | 2022 |
| Further evidence of the importance of RIT1 in Noonan syndrome DR Bertola, GL Yamamoto, TF Almeida, M Buscarilli, AAL Jorge, ... American journal of medical genetics Part A 164 (11), 2952-2957, 2014 | 67 | 2014 |
| Expansion of CD4+ CD25+ Foxp3+ T cells by bone marrow‐derived dendritic cells I Marguti, GL Yamamoto, TB da Costa, LV Rizzo, LV de Moraes Immunology 127 (1), 50-61, 2009 | 63 | 2009 |
| IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy GA Vasques, MFA Funari, FM Ferreira, M Aza-Carmona, ... The Journal of Clinical Endocrinology & Metabolism 103 (2), 604-614, 2018 | 60 | 2018 |
| Rare variants in the epithelial cadherin gene underlying the genetic etiology of nonsyndromic cleft lip with or without cleft palate LA Brito, GL Yamamoto, S Melo, C Malcher, SG Ferreira, J Figueiredo, ... Human mutation 36 (11), 1029-1033, 2015 | 51 | 2015 |
| Autosomal-recessive mutations in MESD cause osteogenesis imperfecta S Moosa, GL Yamamoto, L Garbes, K Keupp, A Beleza-Meireles, ... The American Journal of Human Genetics 105 (4), 836-843, 2019 | 50 | 2019 |
| Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility RA Toledo, R Hatakana, DM Lourenco Jr, SC Lindsey, CP Camacho, ... Endocrine-related cancer 22 (1), 65, 2015 | 49 | 2015 |
| Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy GL Yamamoto, WAR Baratela, TF Almeida, M Lazar, CL Afonso, ... The American Journal of Human Genetics 94 (1), 113-119, 2014 | 49 | 2014 |
| Mutations in fibronectin cause a subtype of Spondylometaphyseal dysplasia with “corner fractures” CS Lee, H Fu, N Baratang, J Rousseau, H Kumra, VR Sutton, M Niceta, ... The American Journal of Human Genetics 101 (5), 815-823, 2017 | 44 | 2017 |
| Milder course in Duchenne patients with nonsense mutations and no muscle dystrophin M Zatz, RCM Pavanello, M Lazar, GL Yamamoto, NCV Lourenço, ... Neuromuscular Disorders 24 (11), 986-989, 2014 | 43 | 2014 |
| Rare RELN variants affect Reelin–DAB1 signal transduction in autism spectrum disorder SM Sánchez‐Sánchez, J Magdalon, K Griesi‐Oliveira, GL Yamamoto, ... Human mutation 39 (10), 1372-1383, 2018 | 41 | 2018 |
| Actin cytoskeleton dynamics in stem cells from autistic individuals K Griesi-Oliveira, AM Suzuki, AY Alves, ACCN Mafra, GL Yamamoto, ... Scientific reports 8 (1), 11138, 2018 | 35 | 2018 |
| The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan‐like syndrome individual: Broadening the clinical phenotype D Bertola, G Yamamoto, M Buscarilli, A Jorge, MR Passos‐Bueno, C Kim American Journal of Medical Genetics Part A 173 (3), 824-828, 2017 | 33 | 2017 |
| Schinzel–Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features E Carvalho, R Honjo, M Magalhães, G Yamamoto, K Rocha, M Naslavsky, ... American Journal of Medical Genetics Part A 167 (5), 1039-1046, 2015 | 33 | 2015 |
