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J. Llerena · SciRah

Researcher profile · Semantic Scholar

J. Llerena

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J. Llerena — researcher profile on SciRah

h-index: 22
Works: 162
Citations: 2,110

Most-cited papers

Microdeletion and Microduplication Syndromes
A. Weise, K. Mrasek, E. Klein, M. Mulatinho +6 more
2012Journal of Histochemistry and Cytochemistry191 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
Intrathecal administration of recombinant human N-acetylgalactosamine 4-sulfatase to a MPS VI patient with pachymeningitis cervicalis.
M. Muñoz-Rojas, D. Horovitz, L. Jardim, Marcia Raymundo +6 more
2010Molecular Genetics and Metabolism63 citations
Semantic Scholar
Spinal cord compression in young children with type VI mucopolysaccharidosis.
D. Horovitz, Tatiana de Sá Pacheco Carneiro Magalhães, Alessandra Pena e Costa, L. E. Carelli +3 more
2011Molecular Genetics and Metabolism51 citations
Semantic Scholar
Early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis II: A 7 years follow-up
A. Barth, Tatiana S. P. C. de Magalhães, A. Reis, M. D. de Oliveira +9 more
2017Molecular Genetics and Metabolism Reports46 citations Open access
Semantic Scholar
Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease
J. Llerena, O. Nascimento, A. Oliveira, M. Dourado +5 more
2015Arquivos de Neuro-Psiquiatria45 citations Open access
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
Severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: case report
M. Mulatinho, Cassio Luiz de Carvalho Serão, F. Scalco, D. Hardekopf +6 more
2012Molecular Cytogenetics39 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
Respiratory function during enzyme replacement therapy in late-onset Pompe disease: longitudinal course, prognostic factors, and the impact of time from diagnosis to treatment start
D. Stockton, P. Kishnani, A. T. van der Ploeg, J. Llerena +8 more
2020Journal of Neurology34 citations Open access
Semantic Scholar
A Systematic Review and Meta-Analysis of Enzyme Replacement Therapy in Late-Onset Pompe Disease
A. Dornelles, A. P. P. Junges, T. Pereira, B. Krug +5 more
2021Journal of Clinical Medicine32 citations Open access
Semantic Scholar
The Brazilian consensus on the management of Pompe disease.
J. Llerena, D. Horovitz, S. Marie, G. Porta +3 more
2009Jornal de Pediatria31 citations Open access
Semantic Scholar
Clinical and Molecular Characterization of Osteogenesis Imperfecta Type V
E. Brizola, E. Mattos, J. Ferrari, P. Freire +3 more
2015Molecular Syndromology25 citations Open access
Semantic Scholar
Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network
B. D. de Oliveira, F. Bernardi, João Baiochi, M. Neiva +51 more
2024Orphanet Journal of Rare Diseases22 citations Open access
Semantic Scholar
Severe phenotype in MPS II patients associated with a large deletion including contiguous genes
A. Brusius-Facchin, C. F. D. de Souza, Ida V. D. Schwartz, M. Riegel +6 more
2012American Journal of Medical Genetics. Part A21 citations
Semantic Scholar
miRNA Genetic Variants Alter Their Secondary Structure and Expression in Patients With RASopathies Syndromes
Joseane Biso de Carvalho, G. D. de Morais, Thays Cristine dos Santos Vieira, N. C. Rabelo +3 more
2019Frontiers in Genetics19 citations Open access
Semantic Scholar
Novel and Recurrent Mutations in the FGFR3 Gene and Double Heterozygosity Cases in a Cohort of Brazilian Patients with Skeletal Dysplasia
M. E. Gomes, T. Kanazawa, F. R. Riba, N. Pereira +7 more
2018Molecular Syndromology19 citations Open access
Semantic Scholar
A New Multicolor Fluorescence In Situ Hybridization Probe Set Directed Against Human Heterochromatin
M. Bucksch, M. Ziegler, Nadezda Kosayakova, M. Mulatinho +11 more
2012Journal of Histochemistry and Cytochemistry19 citations Open access
Semantic Scholar
A newborn screening pilot study using methylation-sensitive high resolution melting on dried blood spots to detect Prader-Willi and Angelman syndromes
Igor Ribeiro Ferreira, R. A. Costa, L. Gomes, Wilton Darleans dos Santos Cunha +6 more
2020Scientific Reports17 citations Open access
Semantic Scholar
Higher dose alglucosidase alfa is associated with improved overall survival in infantile-onset Pompe disease (IOPD): data from the Pompe Registry
P. Kishnani, D. Kronn, S. Suwazono, Alexander Broomfield +8 more
2023Orphanet Journal of Rare Diseases16 citations Open access
Semantic Scholar
Atenção em genética médica no SUS: a experiência de um município de médio porte
Daniela Koeller Rodrigues Vieira, Margareth Attianezi, D. Horovitz, J. Llerena
201315 citations Open access
Semantic Scholar
Are MPS II heterozygotes actually asymptomatic? A study based on clinical and biochemical data, X‐inactivation analysis and imaging evaluations
L. L. de Camargo Pinto, S. Maluf, S. Leistner-Segal, Camila Zimmer da Silva +9 more
2011American Journal of Medical Genetics. Part A15 citations
Semantic Scholar
A concepção de família e religiosidade presente nos discursos produzidos por profissionais médicos acerca de crianças com doenças genéticas
Antilia Januária Martins, mAriA HeleNA cAbrAl De AlmeiDA cArDoso, J. Llerena, Martha Cristina Nunes Moreira
201213 citations Open access
Semantic Scholar
Changes in forced vital capacity over ≤ 13 years among patients with late-onset Pompe disease treated with alglucosidase alfa: new modeling of real-world data from the Pompe Registry
K. I. Berger, Yin-Hsiu Chien, Alberto Dubrovsky, Priya S. Kishnani +8 more
2024Journal of Neurology10 citations Open access
Semantic Scholar
Molecular analysis of holoprosencephaly in South America
Clarice Pagani Savastano, K. El-Jaick, M. A. Costa-Lima, Cristina Maria Batista Abath +10 more
2013Genetics and Molecular Biology10 citations Open access
Semantic Scholar
Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic Variants
L. C. de Almeida Cardoso, Alejandro Parra, Cristina Ríos Gil, P. Arias +10 more
2022Cancers9 citations Open access
Semantic Scholar
RASopathy Cohort of Patients Enrolled in a Brazilian Reference Center for Rare Diseases: A Novel Familial LZTR1 Variant and Recurrent Mutations
Natana Chaves Rabelo, M. E. Gomes, Isabelle de Oliveira Moraes, Juliana Cantagalli Pfisterer +5 more
2022The Application of Clinical Genetics9 citations Open access
Semantic Scholar
Determinantes da marcha independente na osteogênese imperfeita
Carmem Lia Martins Moreira, Maria Angélica de Faria Domingues de Lima, mAriA HeleNA cAbrAl De AlmeiDA cArDoso, Saint Clair Gomes +2 more
20119 citations Open access
Semantic Scholar
SLC26A2/DTDST Spectrum: A Cohort of 12 Patients Associated with a Comprehensive Review of the Genotype-Phenotype Correlation
Cynthia Silveira, Karina da Costa Silveira, M. D. Lacarrubba-Flores, M. T. Sakata +4 more
2022Molecular Syndromology7 citations
Semantic Scholar
Respiratory manifestations in late-onset Pompe disease: a case series conducted in Brazil
Bruna de Souza Sixel, L. D. da Silva, N. Cavalcanti, Glória Maria Cardoso de Andrade Penque +3 more
2017Jornal Brasileiro de Pneumologia7 citations Open access
Semantic Scholar
Perfil dos óbitos de recém-nascidos ocorridos na sala de parto de uma maternidade do Rio de Janeiro, 2010-2012
A. D. de Oliveira, J. Llerena, Maria de Fátima dos Santos Costa
20136 citations Open access
Semantic Scholar
Identification of a founder effect involving n.197C>T variant in RMRP gene associated to cartilage-hair hypoplasia syndrome in Brazilian patients
M. E. Gomes, Fernanda de Souza Gomes Kehdy, Fernanda Saloum de Neves-Manta, D. Horovitz +6 more
2024Scientific Reports5 citations Open access
Semantic Scholar
Immunological Profile of Patients Presenting Down Syndrome and Alopecia Areata
M. Ribeiro, Juliany Estefan, K. Higino, J. Llerena +5 more
20154 citations
Semantic Scholar
Identification of familial clustering for cancer through the family health strategy program in the municipality of Angra dos Reis, Rio de Janeiro, Brazil
D. Vieira, Margareth Attianezi, A. Esposito, A. Barth +6 more
2014Journal of Community Genetics4 citations Open access
Semantic Scholar
Avaliação genética itinerante de crianças e adolescentes com deficiência vinculadas à Estratégia Saúde da Família
D. Koeller, R. Vieira, Dafne Dain, Gandelman Horovitz +1 more
20124 citations Open access
Semantic Scholar
Educação e saúde: um diálogo necessário às políticas de atenção integral para as pessoas com deficiência
Nelma Alves Marques Pintor, J. Llerena, Valdelúcia Alves da Costa
20124 citations Open access
Semantic Scholar
Autosomal recessive primary microcephaly in sibs in time of Zika epidemic: a Case Report
J. Almeida, B. B. Abdala, N. C. Rabelo, M. E. Gomes +3 more
2025Frontiers in Genetics3 citations Open access
Semantic Scholar
Clinical and Cytogenetic Impact of Maternal Balanced Double Translocation: A Familial Case of 15q11.2 Microduplication and Microdeletion Syndromes with Genetic Counselling Implications
Daniela Koeller R Vieira, Ingrid Lima, C. Rosenberg, Carlos Roberto da Fonseca +5 more
2024Genes3 citations Open access
Semantic Scholar
An uncommon t(9;11)(p24;q22) with monoallelic loss of ATM and KMT2A genes in a child with myelodysplastic syndrome/acute myeloid leukemia who evolved from Fanconi anemia
V. Lovatel, Daiane C. De Souza, T. F. Alvarenga, R. R. Capela de Matos +6 more
2018Molecular Cytogenetics3 citations Open access
Semantic Scholar
Physiotherapy and patients with osteogenesis imperfecta: an experience report
Carmem Lia Martins Moreira, A. C. B. Gilbert, Maria Angélica de Faria Domingues de Lima, mAriA HeleNA cAbrAl De AlmeiDA cArDoso +1 more
20153 citations Open access
Semantic Scholar
A CIF-CJ para crianças e adolescentes com osteogênese imperfeita: a perspectiva de especialistas
Tatiana Vasconcelos dos Santos, J. Llerena, C. T. Ribeiro
2015Acta Fisiátrica3 citations Open access
Semantic Scholar
Kabuki Syndrome: a case report with severe ocular abnormalities
F. M. Medina, Pamela Rodriguez, Renata Tavares de Souza Cabral, Márcia Brazuna de Castro +2 more
20133 citations Open access
Semantic Scholar
Severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: case report
M. Mulatinho, Cassio Luiz de Carvalho Serão, F. Scalco, D. Hardekopf +6 more
2012Molecular Cytogenetics3 citations Open access
Semantic Scholar
Registro de adolescentes com deficiência no Sistema de Informaçao da Atençao Básica: experiência do município de Angra dos Reis - Rio de Janeiro, Brasil
Daniela Koeller Rodrigues Vieira, Neucimar de Oliveira Duarte, Margareth Attianezi, J. Llerena
20113 citations
Semantic Scholar
Sickle-Cell Disease and Stroke: Quality of Life of Patients in a Chronic Transfusion Regimen from the Caregivers’ Perspective
Maria Aline Ferreira de Cerqueira, Luciana Couto, M. Parente, J. Llerena
2022Pediatric Hematology & Oncology2 citations
Semantic Scholar
Strategic analysis of a medical genetics center at a national health research institute in Brazil: challenges for the country's public health system.
E. Artmann, J. Llerena, Laura Terezina Pereira, L. Binsfeld +1 more
2021Ciência & Saúde Coletiva2 citations Open access
Semantic Scholar
New SHH and Known SIX3 Variants in a Series of Latin American Patients with Holoprosencephaly
Viviane Freitas de Castro, Daniel Mattos, F. M. de Carvalho, D. Cavalcanti +15 more
2021Molecular Syndromology2 citations Open access
Semantic Scholar
Motor Development as a Potential Marker to Monitor Infantile Pompe Disease on Enzyme Replacement Therapy
Paula de Almeida Thomazinho, F. Scalco, M. D. de Oliveira, D. Horovitz +1 more
20172 citations Open access
Semantic Scholar
Impact of earlier treatment on respiratory function in patients with late-onset Pompe disease: data from the Pompe Registry
D. Stockton, K. Berger, M. Boentert, B. Byrne +5 more
20172 citations
Semantic Scholar
The Pompe Registry: 10 Years of Data
Priya Kishnania, Yin-Hsiu Chien, J. Llerena, J. Kempf +2 more
2015Journal of Neuromuscular Diseases2 citations Open access
Semantic Scholar

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D. Horovitz×9
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D. Horovitz — researcher profile on SciRah
R. Giugliani×7
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R. Giugliani — researcher profile on SciRah
A. Weise×4
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A. Weise — researcher profile on SciRah
M. Mulatinho×4
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M. Mulatinho — researcher profile on SciRah

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L. C. Santana da Silva×4

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L. C. Santana da Silva — researcher profile on SciRah

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A. Martins — researcher profile on SciRah

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F. Scalco — researcher profile on SciRah

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P. Kishnani — researcher profile on SciRah

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M. E. Gomes — researcher profile on SciRah

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D. Cavalcanti — researcher profile on SciRah

Sayonara Gonzalez×4

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Sayonara Gonzalez — researcher profile on SciRah