| Mechanisms of ring chromosome formation, ring instability and clinical consequences RS Guilherme, VF Ayres Meloni, CA Kim, R Pellegrino, SS Takeno, ... BMC medical genetics 12, 1-7, 2011 | 150 | 2011 |
| Homozygous and compound heterozygous mutations at the Werner syndrome locus J Oshima, CE Yu, C Piussan, G Klein, J Jabkowski, S Balci, T Miki, ... Human molecular genetics 5 (12), 1909-1913, 1996 | 120 | 1996 |
| Detection of hidden Y mosaicism in Turner's syndrome: importance in the prevention of gonadoblastoma B Bianco, MVN Lipay, MI Melaragno, AD Guedes, ITN Verreschi Journal of Pediatric Endocrinology and Metabolism 19 (9), 1113-1118, 2006 | 97 | 2006 |
| Ring chromosome instability evaluation in six patients with autosomal rings CP Sodré, RS Guilherme, VF Meloni, D Brunoni, Y Juliano, JA Andrade, ... Genet Mol Res 9 (1), 134-143, 2010 | 85 | 2010 |
| Mechanisms of structural chromosomal rearrangement formation B Burssed, M Zamariolli, FT Bellucco, MI Melaragno Molecular Cytogenetics 15 (1), 23, 2022 | 82 | 2022 |
| Homozygosity mapping of the Werner syndrome locus (WRN) J Nakura, EM Wijsman, T Miki, K Kamino, CE Yu, J Oshima, K Fukuchi, ... Genomics 23 (3), 600-608, 1994 | 79 | 1994 |
| 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 |
| 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 | 58 | 2018 |
| X‐linked intellectual disability related genes disrupted by balanced X‐autosome translocations M Moysés‐Oliveira, RS Guilherme, VA Meloni, A Di Battista, CB de Mello, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 168 …, 2015 | 54 | 2015 |
| 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 | 49 | 2017 |
| DRD1 rs4532 polymorphism: a potential pharmacogenomic marker for treatment response to antipsychotic drugs VK Ota, LN Spíndola, A Gadelha, AF dos Santos Filho, ML Santoro, ... Schizophrenia research 142 (1-3), 206-208, 2012 | 46 | 2012 |
| Duplication 9p and their implication to phenotype RS Guilherme, VA Meloni, ABA Perez, AL Pilla, MAP de Ramos, ... BMC Medical Genetics 15, 1-8, 2014 | 43 | 2014 |
| Complex small supernumerary marker chromosomes–an update T Liehr, S Cirkovic, T Lalic, M Guc-Scekic, C de Almeida, J Weimer, ... Molecular Cytogenetics 6, 1-6, 2013 | 43 | 2013 |
| Catechol-O-methyltransferase (COMT) polymorphisms modulate working memory in individuals with schizophrenia and healthy controls CT Matsuzaka, D Christofolini, VK Ota, A Gadelha, AA Berberian, C Noto, ... Revista Brasileira de Psiquiatria 39 (4), 302-308, 2017 | 42 | 2017 |
| Investigation of the nucleolar organizer regions in Alzheimer's disease SLM Payão, SM de AC, MH Kormann-Bortolotto, J Toniolo Gerontology 40 (1), 13-17, 2009 | 40 | 2009 |
| A patient with tetrasomy 9p, Dandy-Walker cyst and Hirschsprung disease. MI Melaragno, D Brunoni, FR Patricio, M Corbani, Z Mustacchi, ... Annales de Genetique 35 (2), 79-84, 1992 | 40 | 1992 |
| Investigating 22q11. 2 deletion and other chromosomal aberrations in fetuses with heart defects detected by prenatal echocardiography FTS Bellucco, SIN Belangero, LMS Farah, MVL Machado, AP Cruz, ... Pediatric cardiology 31, 1146-1150, 2010 | 37 | 2010 |
| Genetics of premature ovarian insufficiency and the association with X-autosome translocations A Di-Battista, M Moysés-Oliveira, MI Melaragno Reproduction 160 (4), R55-R64, 2020 | 33 | 2020 |
| Pure duplication 1q41‐qter: Further delineation of trisomy 1q syndromes LD Kulikowski, FTS Bellucco, SI Nogueira, DM Christofolini, MAC Smith, ... American Journal of Medical Genetics Part A 146 (20), 2663-2667, 2008 | 33 | 2008 |
| 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 | 30 | 2015 |
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