A major lung cancer susceptibility locus maps to chromosome 6q23–25 JE Bailey-Wilson, CI Amos, SM Pinney, GM Petersen, M De Andrade, ... The American Journal of Human Genetics 75 (3), 460-474, 2004 | 437 | 2004 |
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 |
Marfan Database: new mutations and new routines for the software G Collod-Béroud, C Béroud, L Ades, C Black, M Boxer, DJH Brock, ... Nucleic Acids Research 26 (1), 229-233, 1998 | 137 | 1998 |
Impact of 5-HTTLPR and BDNF polymorphisms on response to sertraline versus transcranial direct current stimulation: implications for the serotonergic system AR Brunoni, AH Kemp, P Shiozawa, Q Cordeiro, LCL Valiengo, ... European Neuropsychopharmacology 23 (11), 1530-1540, 2013 | 82 | 2013 |
Methylenetetrahydrofolate reductase (MTHFR): incidence of mutations C677T and A1298C in Brazilian population and its correlation with plasma homocysteine levels in spina bifida ABA Perez, V D'Almeida, N Vergani, AC de Oliveira, FT de Lima, ... American journal of medical genetics Part A 119 (1), 20-25, 2003 | 72 | 2003 |
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 | 54 | 2017 |
Increased plasma homocysteine levels in shift working bus drivers PJF Martins, V D’almeida, N Vergani, ABA Perez, S Tufik Occupational and Environmental Medicine 60 (9), 662-666, 2003 | 50 | 2003 |
Clinical and cytogenomic findings in OAV spectrum S Bragagnolo, MES Colovati, MZ Souza, AG Dantas, MF F de Soares, ... American journal of medical genetics Part A 176 (3), 638-648, 2018 | 48 | 2018 |
A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case CI Samogy-Costa, E Varella-Branco, F Monfardini, H Ferraz, RA Fock, ... Journal of neurodevelopmental disorders 11 (1), 1-10, 2019 | 40 | 2019 |
A novel de novo mutation in MYT1, the unique OAVS gene identified so far M Berenguer, A Tingaud-Sequeira, M Colovati, MI Melaragno, ... European Journal of Human Genetics 25 (9), 1083-1086, 2017 | 38 | 2017 |
Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity CS D’Angelo, MC Varela, CIE de Castro, PA Otto, ABA Perez, ... Molecular Cytogenetics 11, 1-18, 2018 | 37 | 2018 |
Duplication 9p and their implication to phenotype RS Guilherme, VA Meloni, ABA Perez, AL Pilla, MAP de Ramos, ... BMC Medical Genetics 15 (1), 1-8, 2014 | 36 | 2014 |
Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: report of novel pathogenic copy number variants CS D'Angelo, I Kohl, MC Varela, CIE de Castro, CA Kim, DR Bertola, ... American Journal of Medical Genetics Part A 161 (3), 479-486, 2013 | 33 | 2013 |
A utilização da Internet na notificação dos defeitos congênitos na Declaração de Nascido Vivo em quatro maternidades públicas do Município de São Paulo, Brasil PDR Nicola, MCSP Cernach, ABA Perez, D Brunoni Cadernos de Saúde Pública 26 (7), 1383-1390, 2010 | 28 | 2010 |
Genetic mechanisms leading to primary amenorrhea in balanced X-autosome translocations M Moysés-Oliveira, R dos Santos Guilherme, AG Dantas, R Ueta, ... Fertility and Sterility 103 (5), 1289-1296. e2, 2015 | 24 | 2015 |
Causas genéticas, epigênicas e, ambientais do transtorno do espectro autista TA Zanolla, RA Fock, E Perrone, AC Garcia, ABA Perez, D Brunoni Cadernos de Pós-graduação em Distúrbios do Desenvolvimento 15 (2), 2015 | 24 | 2015 |
Novel deletion of SERPINF1 causes autosomal recessive osteogenesis imperfecta type VI in two Brazilian families R Moldenhauer Minillo, N Sobreira, M de Fatima de Faria Soares, ... Molecular syndromology 5 (6), 268-275, 2014 | 23 | 2014 |
Serum Total Homocysteine Levels and the Prevalence of Folic Acid Deficiency and C677T Mutation at the MTHFR Gene in an Indigenous Population of Amazonia EF Tavares, JPB Vieira-Filho, A Andriolo, ABA Perez, N Vergani, ... Ethnicity & Disease 14 (1), 49-56, 2004 | 23 | 2004 |
Familial complex chromosome rearrangement ascertained by in situ hybridisation. C Fuster, L Miguez, R Miro, MA Rigola, A Perez, J Egozcue Journal of medical genetics 34 (2), 164-166, 1997 | 21 | 1997 |
Novel mutations in the TBX5 gene in patients with Holt-Oram syndrome MPR Porto, N Vergani, ACC Carvalho, MCSP Cernach, D Brunoni, ... Genetics and Molecular Biology 33, 232-236, 2010 | 20 | 2010 |