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R. Boy · SciRah

Researcher profile · Semantic Scholar

R. Boy

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R. Boy — researcher profile on SciRah

h-index: 16
Works: 35
Citations: 921

Most-cited papers

Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment
R. Giugliani, A. Federhen, María Verónica Muñoz Rojas, T. Vieira +43 more
2010Genetics and Molecular Biology178 citations Open access
Semantic Scholar
A clinical study of 77 patients with mucopolysaccharidosis type II
I. V. Schwartz, M. Ribeiro, J. G. Mota, M. B. P. Toralles +20 more
2007Acta paediatrica136 citations
Semantic Scholar
Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI
A. Azevedo, I. Schwartz, L. Kalakun, S. Brustolin +19 more
2004Clinical Genetics120 citations
Semantic Scholar
Mucopolysaccharidoses in Brazil: What happens from birth to biochemical diagnosis?
T. Vieira, I. Schwartz, Verónica Muñoz, L. Pinto +8 more
2008American Journal of Medical Genetics. Part A83 citations
Semantic Scholar
Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients.
A. Brusius-Facchin, I. V. Schwartz, C. Zimmer, M. Ribeiro +16 more
2014Molecular Genetics and Metabolism48 citations Open access
Semantic Scholar
Terapia de reposição enzimática para as mucopolissacaridoses I, II e VI: recomendações de um grupo de especialistas brasileiros
R. Giugliani, A. Federhen, Maria Verónica Muñoz Rojas, T. Vieira +43 more
201037 citations Open access
Semantic Scholar
Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability
Chao-Fan Zhang, Angad Jolly, Brian J. Shayota, J. Mazzeu +47 more
2021HGG advances34 citations Open access
Semantic Scholar
Skewed X-Chromosome Inactivation and Compensatory Upregulation of Escape Genes Precludes Major Clinical Symptoms in a Female With a Large Xq Deletion
C. Santos-Rebouças, R. Boy, E. Q. Vianna, A. P. Gonçalves +7 more
2020Frontiers in Genetics28 citations Open access
Semantic Scholar
Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients
Taciane Borsatto, Fernanda Sperb-Ludwig, Samyra E. Lima, M. R. S. Carvalho +13 more
2017PLoS ONE28 citations Open access
Semantic Scholar
Chromosomal investigations in patients with mental retardation and/or congenital malformations
C. B. Santos, R. Boy, J. M. Santos, M. P. S. Silva +1 more
200024 citations Open access
Semantic Scholar
Ethical issues related to the access to orphan drugs in Brazil: the case of mucopolysaccharidosis type I
R. Boy, I. Schwartz, B. Krug, L. Santana-da-Silva +6 more
2011Journal of Medical Ethics23 citations Open access
Semantic Scholar
Finding FMR1 mosaicism in Fragile X syndrome
Thaís Fernandez Gonçalves, J. M. dos Santos, A. P. Gonçalves, F. Tassone +6 more
2016Expert Review of Molecular Diagnostics21 citations Open access
Semantic Scholar
Evaluation of plasma biomarkers of inflammation in patients with maple syrup urine disease
Giselli Scaini, T. Tonon, Carolina F. Moura de Souza, P. F. Schuck +12 more
2018Journal of Inherited Metabolic Disease18 citations
Semantic Scholar
GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms.
N. F. Ludwig, R. Velho, Fernanda Sperb-Ludwig, A. Acosta +10 more
2017International Journal of Biochemistry and Cell Biology17 citations
Semantic Scholar
[Principle of protection and treatment of rare genetic diseases in Brazil: the case of lysosomal storage disorders].
R. Boy, F. R. Schramm
2009Cadernos de Saúde Pública17 citations Open access
Semantic Scholar
Clinical and biochemical studies in mucopolysaccharidosis type II carriers
I. Schwartz, L. Pinto, G. Breda, L. Lima +17 more
2009Journal of Inherited Metabolic Disease16 citations Open access
Semantic Scholar
Premature ovarian failure and FRAXA premutation: Positive correlation in a Brazilian survey
Maria Do Carmo Machado-Ferreira, M. A. Costa-Lima, R. Boy, G. S. Esteves +1 more
2004American Journal of Medical Genetics. Part A13 citations
Semantic Scholar
ARX mutation c.428-451dup (24bp) in a Brazilian family with X-linked mental retardation.
Raquel de Souza Gestinari-Duarte, C. Santos-Rebouças, R. Boy, M. M. Pimentel
2006European Journal of Medical Genetics12 citations
Semantic Scholar
Medical Costs Related to Enzyme Replacement Therapy for Mucopolysaccharidosis Types I, II, and VI in Brazil: A Multicenter Study.
F. H. de Bitencourt, T. Vieira, C. Steiner, J. Corrêa +2 more
2015Value in Health Regional Issues9 citations Open access
Semantic Scholar
Differential diagnosis of Smith–Magenis syndrome: 1p36 deletion syndrome
G. H. Vieira, Jayson D. Rodriguez, R. Boy, Isaías Soares de Paiva +3 more
2011American Journal of Medical Genetics. Part A9 citations
Semantic Scholar
Premature ovarian failure and FMR1 premutation co-segregation in a large Brazilian family.
M. C. Machado-Ferreira, M. A. Costa-Lima, R. Boy, G. S. Esteves +1 more
2002International Journal of Molecular Medicine9 citations
Semantic Scholar
Low‐pass whole genome sequencing as a cost‐effective alternative to chromosomal microarray analysis for low‐ and middle‐income countries
P. Mazzonetto, D. Villela, A. Krepischi, P. Pierry +26 more
2024American Journal of Medical Genetics. Part A8 citations Open access
Semantic Scholar
Molecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndrome.
B. B. Abdala, A. P. Gonçalves, J. M. dos Santos, R. Boy +8 more
2021European Journal of Medical Genetics7 citations Open access
Semantic Scholar
SMAD4 Pathogenic Variants in Seven New Brazilian Individuals With Myhre Syndrome Including a New Family
Samira Spineli-Silva, L. B. Pontes, N. de Leeuw, Gabriela Roldão Correia-Costa +6 more
2025American Journal of Medical Genetics. Part A6 citations Open access
Semantic Scholar
Concurrence of fragile X and Klinefelter syndromes: report of a new case of paternal nondisjunction.
C. B. Santos, H. Hjalgrim, F. Carneiro, M. Ribeiro +2 more
2003Annales de Genetique5 citations
Semantic Scholar
De novo balanced translocation (2;10)(q24;q22) associated with mental retardation.
C. B. Santos, G. Discepoli, F. Pigliapoco, R. Boy +1 more
2003Annales de Genetique4 citations
Semantic Scholar
A novel Xp11.22 duplication involving HUWE1 in a male with syndromic intellectual disability and additional neurological findings.
C. Santos-Rebouças, R. Boy, G. Fernandes, A. P. Gonçalves +4 more
2023European Journal of Medical Genetics3 citations Open access
Semantic Scholar
Chromosome 6q deletion: Report of a new case and review of the literature
R. Boy, M. M. Pimentel, Ana Paula Hemerly, Maria Silva +3 more
19983 citations Open access
Semantic Scholar
Correction: Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients
Taciane Borsatto, Fernanda Sperb-Ludwig, Samyra E. Lima, M. R. Carvalho +13 more
2017PLoS ONE2 citations Open access
Semantic Scholar
Further report of a patient with humeroradioulnar synostosis and hydronephrosis.
R. Boy, D. Horovitz, F. Vargas, J. Barbosa +2 more
1995Journal of Medical Genetics2 citations Open access
Semantic Scholar
MPS Brazil Network: An efficient tool to identify MPS patients country-wide
R. Giugliani, A. Acosta, M. Toralles, E. Ribeiro +9 more
20131 citations
Semantic Scholar
[Fragile X syndrome confirmed by molecular analysis: a case-control study with pre and post-puberal patients].
R. Boy, P. Correia, J. Llerena, Machado-Ferreira Md +1 more
2001Arquivos de Neuro-Psiquiatria1 citations
Semantic Scholar
Geleophysic dysplasia: report on two sibs
R. Boy, J. Llerena, M. M. Pimentel, J. C. D. de Almeida
19981 citations Open access
Semantic Scholar
Treating Niemann-pick type C in Brazil: follow-up of 28 patients
C. Lourenço, V. van der Linden, Mara Lisiane de Moraes dos Santos, E. Ribeiro +5 more
20110 citations
Semantic Scholar
Clinical Report Mucopolysaccharidoses in Brazil: What Happens From Birth to Biochemical Diagnosis?
T. Vieira, I. Schwartz, L. L. de Camargo Pinto, C. Steiner +6 more
20080 citations
Semantic Scholar

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