| Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment R Giugliani, A Federhen, MV Muñoz Rojas, T Vieira, O Artigalás, ... Genetics and molecular biology 33, 589-604, 2010 | 264 | 2010 |
| Bi-allelic CSF1R mutations cause skeletal dysplasia of dysosteosclerosis-pyle disease spectrum and degenerative encephalopathy with brain malformation L Guo, DR Bertola, A Takanohashi, A Saito, Y Segawa, T Yokota, ... The American Journal of Human Genetics 104 (5), 925-935, 2019 | 109 | 2019 |
| CYLD mutations in familial skin appendage tumours S Saggar, KA Chernoff, S Lodha, L Horev, S Kohl, RS Honjo, HRC Brandt, ... Journal of medical genetics 45 (5), 298-302, 2008 | 105 | 2008 |
| Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver–Russell syndrome A Bonaldi, JF Mazzeu, SS Costa, RS Honjo, DR Bertola, LMJ Albano, ... American journal of medical genetics Part A 155 (10), 2479-2483, 2011 | 54 | 2011 |
| Genetic disorders in prenatal onset syndromic short stature identified by exome sequencing TK Homma, BL Freire, RSH Kawahira, A Dauber, MF de Assis Funari, ... The Journal of Pediatrics 215, 192-198, 2019 | 50 | 2019 |
| Autosomal-recessive mutations in MESD cause osteogenesis imperfecta S Moosa, GL Yamamoto, L Garbes, K Keupp, A Beleza-Meireles, ... The American Journal of Human Genetics 105 (4), 836-843, 2019 | 50 | 2019 |
| Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome H Aoi, T Mizuguchi, JR Ceroni, VEH Kim, I Furquim, RS Honjo, T Iwaki, ... Journal of Human Genetics 64 (10), 967-978, 2019 | 50 | 2019 |
| Terapia de reposição enzimática para as mucopolissacaridoses I, II e VI: recomendações de um grupo de especialistas brasileiros R Giugliani, A Federhen, MV Muñoz Rojas, TA Vieira, O Artigalás, ... Revista da Associação Médica Brasileira 56, 271-277, 2010 | 46 | 2010 |
| Mutations, clinical findings and survival estimates in South American patients with X-linked adrenoleukodystrophy FS Pereira, U Matte, CT Habekost, RM Castilhos, AS El Husny, ... PLoS One 7 (3), e34195, 2012 | 42 | 2012 |
| Recurrent copy number variants associated with syndromic short stature of unknown cause TK Homma, ACV Krepischi, TK Furuya, RS Honjo, AC Malaquias, ... Hormone research in paediatrics 89 (1), 13-21, 2018 | 40 | 2018 |
| A Known SOST Gene Mutation Causes Sclerosteosis in a Familial and an Isolated Case from Brazilian Origin CA Kim, R Honjo, D Bertola, L Albano, L Oliveira, S Jales, J Siqueira, ... Genetic Testing 12 (4), 475-479, 2008 | 39 | 2008 |
| Detection of deletions at 7q11. 23 in Williams-Beuren syndrome by polymorphic markers RL Dutra, P de Campos Pieri, ACD Teixeira, RS Honjo, DR Bertola, ... Clinics 66 (6), 959-964, 2011 | 36 | 2011 |
| Williams-Beuren syndrome: a clinical study of 55 Brazilian patients and the diagnostic use of MLPA RS Honjo, RL Dutra, EA Furusawa, EA Zanardo, LS de Athayde Costa, ... BioMed Research International 2015, 2015 | 35 | 2015 |
| Primary immunodeficiency with chronic enteropathy and developmental delay in a boy arising from a novel homozygous RIPK1 variant Y Uchiyama, CA Kim, AC Pastorino, J Ceroni, PP Lima, ... Journal of human genetics 64 (9), 955-960, 2019 | 33 | 2019 |
| Dental evaluation of Kabuki syndrome patients CS Teixeira, CRL Silva, RS Honjo, DR Bertola, LMJ Albano, CA Kim The Cleft palate-craniofacial journal 46 (6), 668-673, 2009 | 33 | 2009 |
| Enzyme replacement therapy for mucopolysaccharidoses I, II and VI: recommendations from a group of Brazilian F experts R Giugliani, A Federhen, MV Muñoz Rojas, TA Vieira, O Artigalás, ... Revista da Associação Médica Brasileira 56, 271-277, 2010 | 32 | 2010 |
| Schinzel–Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features E Carvalho, R Honjo, M Magalhães, G Yamamoto, K Rocha, M Naslavsky, ... American Journal of Medical Genetics Part A 167 (5), 1039-1046, 2015 | 31 | 2015 |
| Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countries RL Dutra, RS Honjo, LD Kulikowski, FM Fonseca, PC Pieri, FS Jehee, ... BMC Research Notes 5, 1-5, 2012 | 30 | 2012 |
| Natural history of 39 patients with Achondroplasia JRM Ceroni, DCQ Soares, LC Testai, RSH Kawahira, GL Yamamoto, ... Clinics 73, e324, 2018 | 26 | 2018 |
| Cri du Chat syndrome: Characteristics of 73 Brazilian patients RS Honjo, CB Mello, LSE Pimenta, EC Nuñes‐Vaca, LM Benedetto, ... Journal of Intellectual Disability Research 62 (6), 467-473, 2018 | 26 | 2018 |
