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E. Ribeiro · SciRah

Researcher profile · Semantic Scholar

E. Ribeiro

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E. Ribeiro — researcher profile on SciRah

h-index: 22
Works: 77
Citations: 3,826

Most-cited papers

Possible Association Between Zika Virus Infection and Microcephaly - Brazil, 2015.
L. Schuler-faccini, E. Ribeiro, Ian M. L. Feitosa, D. Horovitz +11 more
2016MMWR. Morbidity and mortality weekly report932 citations Open access
Semantic Scholar
Congenital Zika Syndrome: Characterizing the Pattern of Anomalies for Pediatric Healthcare Providers
C. A. Moore, J. Staples, W. Dobyns, A. Pessoa +7 more
2017JAMA pediatrics833 citations Open access
Semantic Scholar
Description of 13 Infants Born During October 2015-January 2016 With Congenital Zika Virus Infection Without Microcephaly at Birth - Brazil.
V. van der Linden, A. Pessoa, W. Dobyns, A. Barkovich +15 more
2016MMWR. Morbidity and mortality weekly report427 citations Open access
Semantic Scholar
Microcephaly in Brazil: how to interpret reported numbers?
C. Victora, L. Schuler-faccini, A. Matijasevich, E. Ribeiro +2 more
2016The Lancet218 citations Open access
Semantic Scholar
The phenotypic spectrum of congenital Zika syndrome
M. Del Campo, Ian M. L. Feitosa, E. Ribeiro, D. Horovitz +22 more
2017American Journal of Medical Genetics. Part A190 citations Open access
Semantic Scholar
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
Spinocerebellar Ataxias in Brazil—Frequencies and Modulating Effects of Related Genes
R. M. de Castilhos, G. Furtado, T. Gheno, Paola Schaeffer +17 more
2013Cerebellum112 citations
Semantic Scholar
Motor Abnormalities and Epilepsy in Infants and Children With Evidence of Congenital Zika Virus Infection
A. Pessoa, V. van der Linden, M. Yeargin-Allsopp, M. Carvalho +6 more
2018Pediatrics101 citations
Semantic Scholar
A multicentric association study between 39 genes and nonsyndromic cleft lip and palate in a Brazilian population.
Tânia K. de Araujo, R. Secolin, T. Félix, Liliane Todeschini de Souza +11 more
2016Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery50 citations
Semantic Scholar
The visual system in infants with microcephaly related to presumed congenital Zika syndrome.
I. Verçosa, P. Carneiro, Reno Verçosa, R. Girão +5 more
2017Journal of AAPOS48 citations
Semantic Scholar
Enzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VI.
D. Horovitz, T. Magalhães, A. Acosta, E. Ribeiro +18 more
2013Molecular Genetics and Metabolism44 citations Open access
Semantic Scholar
Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN)
T. Félix, B. D. de Oliveira, Milena Artifon, I. Carvalho +55 more
2022Orphanet Journal of Rare Diseases41 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
Association of Severe Hydrocephalus With Congenital Zika Syndrome
V. van der Linden, Natacha Calheiros de Lima Petribu, A. Pessoa, I. Faquini +13 more
2019JAMA Neurology29 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
Maple syrup urine disease in Brazil: a panorama of the last two decades.
Silvani Herber, I. Schwartz, Tatiéle Nalin, C. Netto +5 more
2015Jornal de Pediatria27 citations Open access
Semantic Scholar
Mental Health of Parents of Children with Congenital Zika Virus Syndrome in Brazil
L. E. C. de Souza, T. J. S. de Lima, E. Ribeiro, A. Pessoa +2 more
2018Journal of Child and Family Studies26 citations
Semantic Scholar
Glycogen storage diseases: Twenty‐seven new variants in a cohort of 125 patients
Fernanda Sperb-Ludwig, F. C. Pinheiro, Malu Bettio Soares, Tatiéle Nalin +6 more
2019Molecular Genetics & Genomic Medicine24 citations Open access
Semantic Scholar
Hydrocephalus associated to congenital Zika syndrome: does shunting improve clinical features?
Eduardo Jucá, A. Pessoa, E. Ribeiro, R. Menezes +3 more
2017Child's Nervous System24 citations
Semantic Scholar
Zika Virus Epidemic in Brazil. II. Post-Mortem Analyses of Neonates with Microcephaly, Stillbirths, and Miscarriage
R. Azevedo, M. T. Araújo, C. Oliveira, A. J. Martins +20 more
2018Journal of Clinical Medicine23 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
A Clinical Multicenter Study of Orofacial Features in 26 Brazilian Patients with Different Types of Mucopolysaccharidosis
E. Ribeiro, C. S. Fonteles, Adriana Bezerra Freitas, Karla Shangela da Silva Alves +2 more
2015The Cleft Palate-Craniofacial Journal22 citations
Semantic Scholar
Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region
T. F. Araujo, E. Ribeiro, A. P. Arruda, C. A. Moreno +8 more
2016European Journal of Medical Research21 citations Open access
Semantic Scholar
Clinical Features in Patients with 22q11.2 Deletion Syndrome Ascertained by Palatal Abnormalities
T. Vieira, F. Monteiro, I. C. Sgardioli, J. Souza +7 more
2015The Cleft Palate-Craniofacial Journal21 citations
Semantic Scholar
Implementing the Brazilian Database on Orofacial Clefts
I. Monlleó, M. I. B. Fontes, E. Ribeiro, Josiane Custódio de Souza +7 more
2013Plastic Surgery International21 citations Open access
Semantic Scholar
Dental alterations on panoramic radiographs of patients with osteogenesis imperfecta in relation to clinical diagnosis, severity, and bisphosphonate regimen aspects: a STROBE-compliant case-control study.
F. Marçal, E. Ribeiro, F. Costa, C. S. Fonteles +4 more
2019Oral surgery, oral medicine, oral pathology and oral radiology20 citations
Semantic Scholar
Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network
A. Dornelles, L. L. de Camargo Pinto, A. D. de Paula, C. Steiner +14 more
2013Genetics and Molecular Biology20 citations Open access
Semantic Scholar
Burden of phenylketonuria in Latin American patients: a systematic review and meta-analysis of observational studies
A. Pessoa, A. M. Martins, E. Ribeiro, N. Specola +5 more
2022Orphanet Journal of Rare Diseases17 citations Open access
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
Unmet needs in PKU and the disease impact on the day-to-day lives in Brazil: Results from a survey with 228 patients and their caregivers
A. Martins, A. Pessoa, A. A. Quesada, E. Ribeiro
2020Molecular Genetics and Metabolism Reports16 citations Open access
Semantic Scholar
Application of high‐resolution array platform for genome‐wide copy number variation analysis in patients with nonsyndromic cleft lip and palate
Heglayne Pereira Vital da Silva, Gustavo Henrique de Medeiros Oliveira, M. A. Ururahy, J. F. Bezerra +10 more
2018Journal of clinical laboratory analysis (Print)16 citations Open access
Semantic Scholar
Sleep findings in Brazilian children with congenital Zika syndrome
L. Pinato, E. Ribeiro, R. F. P. Leite, Thayse Lopes +5 more
2018Sleep16 citations Open access
Semantic Scholar
Placenta analysis of prenatally diagnosed patients reveals early GAG storage in mucopolysaccharidoses II and VI.
G. Baldo, U. Matte, O. Artigalás, I. Schwartz +6 more
2011Molecular Genetics and Metabolism16 citations
Semantic Scholar
Long-term impact of early initiation of enzyme replacement therapy in 34 MPS VI patients: A resurvey study.
D. Horovitz, E. Leão, E. Ribeiro, A. Martins +17 more
2021Molecular Genetics and Metabolism15 citations Open access
Semantic Scholar
Genotype–phenotype studies in a large cohort of Brazilian patients with Hunter syndrome
J. Josahkian, A. Brusius-Facchin, A. B. Netto, S. Leistner-Segal +19 more
2021American Journal of Medical Genetics. Part C, Seminars in Medical Genetics14 citations
Semantic Scholar
A large family with CYLD cutaneous syndrome: medical genetics at the community level
A. P. Arruda, A. C. Cardoso-dos-Santos, L. M. Mariath, M. F. Feira +5 more
2019Journal of Community Genetics13 citations Open access
Semantic Scholar
CranFlow: An Application for Record-Taking and Management Through the Brazilian Database on Craniofacial Anomalies.
Roberta M Volpe-Aquino, I. Monlleó, E. Lustosa-Mendes, A. F. Mora +10 more
2018Birth Defects Research13 citations
Semantic Scholar
Mucopolysaccharidosis type VI on enzyme replacement therapy since infancy: Six years follow-up of four children
D. Horovitz, A. Acosta, Liane de Rosso Giuliani, E. Ribeiro
2015Molecular Genetics and Metabolism Reports13 citations Open access
Semantic Scholar
Clinical Characterization of Mucolipidoses II and III: A Multicenter Study
T. Alegra, Fernanda Sperb-Ludwig, N. Guarany, E. Ribeiro +7 more
2019Journal of Pediatric Genetics12 citations Open access
Semantic Scholar
Genomic imbalances in craniofacial microsomia
Samira Spineli-Silva, I. C. Sgardioli, A. P. Santos, Luna Lira Bergamini +8 more
2020American Journal of Medical Genetics. Part C, Seminars in Medical Genetics11 citations
Semantic Scholar
Femoral‐facial syndrome: A review of the literature and 14 additional patients including a monozygotic discordant twin pair
M. D. Lacarrubba-Flores, D. Carvalho, E. Ribeiro, C. A. Moreno +4 more
2018American Journal of Medical Genetics. Part A11 citations
Semantic Scholar
ATXN3, ATXN7, CACNA1A, and RAI1 Genes and Mitochondrial Polymorphism A10398G Did Not Modify Age at Onset in Spinocerebellar Ataxia Type 2 Patients from South America
F. Pereira, T. Monte, L. D. Locks-Coelho, Amanda S. P. Silva +16 more
2015Cerebellum10 citations Open access
Semantic Scholar
Cardiac disease as the presenting feature of mucopolysaccharidosis type IIIA: A case report
E. Ribeiro, A. Brusius-Facchin, S. Leistner-Segal, C. A. Bruno da Silva +1 more
2014Molecular Genetics and Metabolism Reports10 citations Open access
Semantic Scholar
Identification of genomic imbalances in oral clefts
E. Lustosa-Mendes, A. D. Dos Santos, T. Vieira, E. Ribeiro +6 more
2020Jornal de Pediatria9 citations Open access
Semantic Scholar
Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network
Y. H. A. Montenegro, Carolina F. M. Souza, F. Kubaski, F. Trapp +18 more
2021American Journal of Medical Genetics. Part A8 citations
Semantic Scholar
Abortion in Cases of Zika Virus Congenital Infection
V. Mota, L. Cavalcanti, A. Delfino, Thayse Lopes +2 more
2018Gynecologie et obstetrique8 citations Open access
Semantic Scholar
Hearing Screening in children with Congenital Zika Virus Syndrome in Fortaleza , Ceará , Brazil , 2016
E. Ribeiro, A. Pessoa, Doris Ruthy Lewis
20187 citations
Semantic Scholar
From the perception of a cluster of cases of children with microcephaly to congenital Zika syndrome in Brazil: the lessons we have learned and the challenges that lie ahead of us
E. Ribeiro, Thayse Lopes, S. Kerbage, A. Pessoa +1 more
2017Journal of Venomous Animals and Toxins including Tropical Diseases6 citations Open access
Semantic Scholar
Microcephaly in Infants, Ceará State, Brazil, 2015-2016
L. P. de Góes Cavalcanti, E. Ribeiro, A. Pessoa, F. Carvalho +8 more
20175 citations Open access
Semantic Scholar
Noval mutation (Y184C) in exon 4 of the beta-sarcoglycan gene identified in a Portuguese patient. Mutations in brief no. 177. Online.
M. R. D. dos Santos, P. Jorge, E. Ribeiro, M. Pires +1 more
1998Human Mutation5 citations
Semantic Scholar

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