| Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study—preliminary data DJ Allingham‐Hawkins, R Babul‐Hirji, D Chitayat, JJA Holden, KT Yang, ... American journal of medical genetics 83 (4), 322-325, 1999 | 597 | 1999 |
| Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations ACV Krepischi-Santos, AM Vianna-Morgante, FS Jehee, ... Cytogenetic and genome research 115 (3-4), 254-261, 2006 | 141 | 2006 |
| Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion E Klopocki, S Lohan, SC Doelken, S Stricker, CW Ockeloen, ... Journal of medical genetics 49 (2), 119-125, 2012 | 109 | 2012 |
| 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 | 102 | 2022 |
| Prevalence of GJB2 (connexin-26) and GJB6 (connexin-30) mutations in a cohort of 300 Brazilian hearing-impaired individuals: implications for diagnosis and genetic counseling AC Batissoco, RS Abreu-Silva, MCC Braga, K Lezirovitz, V Della-Rosa, ... Ear and hearing 30 (1), 1-7, 2009 | 102 | 2009 |
| A PCR-based test suitable for screening for fragile X syndrome among mentally retarded males LA Haddad, RC Mingroni-Netto, AM Vianna-Morgante, SDJ Pena Human genetics 97, 808-812, 1996 | 93 | 1996 |
| Report of a del22q11 in a patient with Mayer‐Rokitansky‐Küster‐Hauser (MRKH) anomaly and exclusion of WNT‐4, RAR‐gamma, and RXR‐alpha as major … C Cheroki, AC Krepischi‐Santos, C Rosenberg, FS Jehee, ... American Journal of Medical Genetics Part A 140 (12), 1339-1342, 2006 | 87 | 2006 |
| Novel OTOF mutations in Brazilian patients with auditory neuropathy J Romanos, L Kimura, ML Fávero, FAR Izarra, MTB de Mello Auricchio, ... Journal of human genetics 54 (7), 382-385, 2009 | 72 | 2009 |
| Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness K Lezirovitz, E Pardono, MTB de Mello Auricchio, FL de Carvalho e Silva, ... European Journal of Human Genetics 16 (1), 89-96, 2008 | 69 | 2008 |
| Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities N Sobreira, M Brucato, L Zhang, C Ladd-Acosta, C Ongaco, J Romm, ... European Journal of Human Genetics 25 (12), 1335-1344, 2017 | 68 | 2017 |
| Multilocus analyses of seven candidate genes suggest interacting pathways for obesity‐related traits in Brazilian populations CB Angeli, L Kimura, MT Auricchio, JP Vicente, VS Mattevi, ... Obesity 19 (6), 1244-1251, 2011 | 66 | 2011 |
| Multilocus family‐based association analysis of seven candidate polymorphisms with essential hypertension in an African‐derived semi‐isolated Brazilian population L Kimura, CB Angeli, M Auricchio, GR Fernandes, AC Pereira, JP Vicente, ... International journal of hypertension 2012 (1), 859219, 2012 | 60 | 2012 |
| The search of a genetic basis for noise-induced hearing loss (NIHL) RS Abreu-Silva, D Rincon, ARVR Horimoto, AP Sguillar, LAC Ricardo, ... Annals of Human Biology 38 (2), 210-218, 2011 | 54 | 2011 |
| Prevalence of the A1555G (12S rRNA) and tRNA Ser (UCN) mitochondrial mutations in hearing-impaired Brazilian patients RS Abreu-Silva, K Lezirovitz, MCC Braga, M Spinelli, S Pirana, ... Brazilian journal of medical and biological research 39, 219-226, 2006 | 52 | 2006 |
| Stem Cells from Human Exfoliated Deciduous Teeth (SHED) Differentiate in vivo and Promote Facial Nerve Regeneration LV Pereira, RF Bento, DB Cruz, C Marchi, R Salomone, J Oiticicca, ... Cell Transplantation 28 (1), 55-64, 2019 | 50 | 2019 |
| A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13. 1–17p13. 3 K Lezirovitz, SRP Maestrelli, NH Cotrim, PA Otto, PL Pearson, ... Human genetics 123, 625-631, 2008 | 49 | 2008 |
| Frequency and origins of hemoglobin S mutation in African-derived Brazilian populations MTB de Mello Auricchio, JP Vicente, D Meyer, RC Mingroni-Netto Human Biology 79 (6), 667-677, 2007 | 48 | 2007 |
| Genomic ancestry of rural African‐derived populations from Southeastern Brazil L Kimura, EM Ribeiro‐Rodrigues, MTB De Mello Auricchio, JP Vicente, ... American Journal of Human Biology 25 (1), 35-41, 2013 | 46 | 2013 |
| ADRB2 and LEPR Gene Polymorphisms: Synergistic Effects on the Risk of Obesity in Japanese TV Pereira, RC Mingroni‐Netto, Y Yamada Obesity 19 (7), 1523-1527, 2011 | 41 | 2011 |
| Waardenburg syndrome: Novel mutations in a large Brazilian sample MAP Bocángel, US Melo, LU Alves, E Pardono, NCV Lourenço, ... European Journal of Medical Genetics 61 (6), 348-354, 2018 | 39 | 2018 |
