| Use of misoprostol during pregnancy and Möbius' syndrome in infants AL Pastuszak, L Schüler, CE Speck-Martins, KEFA Coelho, SM Cordello, ... New England Journal of Medicine 338 (26), 1881-1885, 1998 | 375 | 1998 |
| Limb deficiency with or without Möbius sequence in seven Brazilian children associated with misoprostol use in the first trimester of pregnancy CH Gonzalez, FR Vargas, ABA Perez, CA Kim, D Brunoni, ... American Journal of Medical Genetics 47 (1), 59-64, 1993 | 247 | 1993 |
| The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families MIW Achatz, M Olivier, F Le Calvez, G Martel-Planche, A Lopes, BM Rossi, ... Cancer letters 245 (1-2), 96-102, 2007 | 227 | 2007 |
| The mutation spectrum in RECQL4 diseases HA Siitonen, J Sotkasiira, M Biervliet, A Benmansour, Y Capri, ... European journal of human genetics 17 (2), 151-158, 2009 | 224 | 2009 |
| Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly E Roessler, E Belloni, K Gaudenz, F Vargas, SW Scherer, LC Tsui, ... Human Molecular Genetics 6 (11), 1847-1853, 1997 | 202 | 1997 |
| Detailed haplotype analysis at the TP53 locus in p.R337H mutation carriers in the population of Southern Brazil: evidence for a founder effect S Garritano, F Gemignani, EI Palmero, M Olivier, G Martel‐Planche, ... Human mutation 31 (2), 143-150, 2010 | 163 | 2010 |
| Prenatal exposure to misoprostol and vascular disruption defects: a case‐control study FR Vargas, L Schuler‐Faccini, D Brunoni, C Kim, VFA Meloni, ... American journal of medical genetics 95 (4), 302-306, 2000 | 161 | 2000 |
| A specific mutation in the distant sonic hedgehog (SHH) cis‐regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications … D Wieczorek, B Pawlik, Y Li, NA Akarsu, A Caliebe, KJW May, ... Human mutation 31 (1), 81-89, 2010 | 146 | 2010 |
| Spinocerebellar ataxias in Brazil—frequencies and modulating effects of related genes RM de Castilhos, GV Furtado, TC Gheno, P Schaeffer, A Russo, ... The Cerebellum 13, 17-28, 2014 | 125 | 2014 |
| The germline mutational landscape of BRCA1 and BRCA2 in Brazil EI Palmero, DM Carraro, B Alemar, MAM Moreira, A Ribeiro-dos-Santos, ... Scientific reports 8 (1), 9188, 2018 | 76 | 2018 |
| More epigenetic hits than meets the eye: microRNAs and genes associated with the tumorigenesis of retinoblastoma AHO Reis, FR Vargas, B Lemos Frontiers in Genetics 3, 284, 2012 | 65 | 2012 |
| Prevalence of the BRCA1 founder mutation c.5266dupin Brazilian individuals at-risk for the hereditary breast and ovarian cancer syndrome IP Ewald, P Izetti, FR Vargas, MAM Moreira, AS Moreira, CA Moreira-Filho, ... Hereditary cancer in clinical practice 9, 1-8, 2011 | 55 | 2011 |
| Prevalence and impact of founder mutations in hereditary breast cancer in Latin America P Ashton-Prolla, FR Vargas Genetics and molecular biology 37, 234-240, 2014 | 54 | 2014 |
| Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly FR Vargas, E Roessler, K Gaudenz, E Belloni, AS Whitehead, PN Kirke, ... Human genetics 102, 387-392, 1998 | 50 | 1998 |
| Xp-duplications with and without sex reversal A Baumstark, G Barbi, M Djalali, C Geerkens, B Mitulla, T Mattfeldt, ... Human genetics 97, 79-86, 1996 | 49 | 1996 |
| Biomarkers of genome instability and cancer epigenetics AHO Reis, FR Vargas, B Lemos Tumor Biology 37 (10), 13029-13038, 2016 | 43 | 2016 |
| Translating microRNAs into biomarkers: What is new for pediatric cancer? INSR de Carvalho, RM de Freitas, FR Vargas Medical Oncology 33, 1-12, 2016 | 39 | 2016 |
| Influence of MDM2 and MDM4 on development and survival in hereditary retinoblastoma AH de Oliveira Reis, INSR de Carvalho, PB de Sousa Damasceno, ... Pediatric blood & cancer 59 (1), 39-43, 2012 | 35 | 2012 |
| Clinical characterization and risk profile of individuals seeking genetic counseling for hereditary breast cancer in Brazil EI Palmero, P Ashton-Prolla, JCC da Rocha, FR Vargas, L Kalakun, ... Journal of Genetic Counseling 16, 363-371, 2007 | 34 | 2007 |
| Pubertad precoz F Vargas, MA Fuentes, L Lorenzo, MV Marco, MJ Martínez-Aedo, R Ruiz Protoc diagn ter pediatr 1, 193-204, 2011 | 33 | 2011 |
