| Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability C Shaw-Smith, AM Pittman, L Willatt, H Martin, L Rickman, S Gribble, ... Nature genetics 38 (9), 1032-1037, 2006 | 421 | 2006 |
| Impact of molecular mechanisms, including deletion size, on Prader–Willi syndrome phenotype: study of 75 patients MC Varela, F Kok, N Setian, CA Kim, CP Koiffmann Clinical genetics 67 (1), 47-52, 2005 | 143 | 2005 |
| 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 |
| Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects MC Varela, F Kok, PA Otto, CP Koiffmann European Journal of Human Genetics 12 (12), 987-992, 2004 | 137 | 2004 |
| Epilepsy in patients with Angelman syndrome caused by deletion of the chromosome 15q11-13 KD Valente, CP Koiffmann, C Fridman, M Varella, F Kok, JQ Andrade, ... Archives of neurology 63 (1), 122-128, 2006 | 117 | 2006 |
| A new case of interstitial 6q16. 2 deletion in a patient with Prader–Willi-like phenotype and investigation of SIM1 gene deletion in 87 patients with syndromic obesity MC Varela, AY Simões-Sato, CA Kim, DR Bertola, CIE De Castro, ... European journal of medical genetics 49 (4), 298-305, 2006 | 80 | 2006 |
| Angelman syndrome: difficulties in EEG pattern recognition and possible misinterpretations KD Valente, JQ Andrade, RM Grossmann, F Kok, C Fridman, ... Epilepsia 44 (8), 1051-1063, 2003 | 78 | 2003 |
| Prader-Willi-like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities … CS D'Angelo, JA Da Paz, CA Kim, DR Bertola, CIE Castro, MC Varela, ... European journal of medical genetics 49 (6), 451-460, 2006 | 67 | 2006 |
| Cytogenetics of Brazilian monkeys CP Koiffmann, PH Saldanha Journal of Human Evolution 3 (4), 275-282, 1974 | 66 | 1974 |
| GAPO syndrome (McKusick 23074)—a connective tissue disorder: report on two affected sibs and on the pathologic findings in the older A Wajntal, CP Koiffmann, BB Mendonça, D Epps‐Quaglia, MN Sotto, ... American journal of medical genetics 37 (2), 213-223, 1990 | 64 | 1990 |
| Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency LP Capelli, ACV Krepischi, J Gurgel-Giannetti, MFS Mendes, T Rodrigues, ... European journal of medical genetics 55 (2), 132-134, 2012 | 59 | 2012 |
| Congenital scalp skull defects with distal limb anomalies (Adams‐Oliver syndrome—McKusick 10030): Further suggestion of autosomal recessive inheritance CP Koiffmann, A Wajntal, BJ Huyke, RM Castro, JM Optiz, JF Reynolds American journal of medical genetics 29 (2), 263-268, 1988 | 58 | 1988 |
| Copy number variants in obesity-related syndromes: review and perspectives on novel molecular approaches CS D'Angelo, CP Koiffmann Journal of obesity 2012, 2012 | 57 | 2012 |
| A 17q21. 31 microdeletion encompassing the MAPT gene in a mentally impaired patient MC Varela, ACV Krepischi-Santos, JA Paz, J Knijnenburg, K Szuhai, ... Cytogenetic and genome research 114 (1), 89-92, 2006 | 53 | 2006 |
| Rett syndrome in a boy with a 47, XXY karyotype JS Schwartzman, M Zatz, L dos Reis Vasquez, RR Gomes, CP Koiffmann, ... The American Journal of Human Genetics 64 (6), 1781-1784, 1999 | 50 | 1999 |
| Angelman syndrome associated with oculocutaneous albinism due to an intragenic deletion of the P gene C Fridman, N Hosomi, MC Varela, AH Souza, K Fukai, CP Koiffmann American Journal of Medical Genetics Part A 119 (2), 180-183, 2003 | 49 | 2003 |
| Extending the phenotype of monosomy 1p36 syndrome and mapping of a critical region for obesity and hyperphagia CS D'Angelo, I Kohl, MC Varela, CIE de Castro, CA Kim, DR Bertola, ... American Journal of Medical Genetics Part A 152 (1), 102-110, 2010 | 48 | 2010 |
| Paternal UPD15: further genetic and clinical studies in four Angelman syndrome patients C Fridman, MC Varela, F Kok, A Diament, CP Koiffmann American journal of medical genetics 92 (5), 322-327, 2000 | 48 | 2000 |
| Incontinentia pigmenti achromians (hypomelanosis of Ito, MIM 146150): further evidence of localization at Xp11 CP Koiffmann, DH de Souza, A Diament, HB Ventura, RS Alves, S Kihara, ... American journal of medical genetics 46 (5), 529-533, 1993 | 44 | 1993 |
| 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 | 43 | 2018 |
