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Cláudia Fernandes Lorea

Observed names: C Lorea, C.F. Lorea, Claudia F. Lorea, Claudia Fernandes Lorea, Claudia Lorea, Claúdia Fernandes Lorea, Cláudia F Lorea, Cláudia F. Lorea, Cláudia Lorea, Lorea CF, Lorea, Claudia Fernandes, Lorea, Cláudia F, Lorea, Cláudia Fernandes
ORCID: 0000-0002-4653-3051
Observed ORCID: 0000-0002-4653-3051
OpenAlex ID: A5087061628
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study
2020 · Stefan Groeneweg, Ferdy S van Geest, et al. · The Lancet Diabetes & Endocrinology · 117
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Biallelic splicing variants in the nucleolar 60S assembly factor RBM28 cause the ribosomopathy ANE syndrome
2021 · Carson J. Bryant, Cláudia F. Lorea, et al. · Proceedings of the National Academy of Sciences · 17
Infections during pregnancy: An ongoing threat
2025 · Claudia Fernandes Lorea, Katherine Pressman, et al. · Seminars in Perinatology · 13
Clinical and Functional Consequences of C-Terminal Variants in MCT8: A Case Series
2020 · Ferdy S van Geest, Marcel E Meima, et al. · The Journal of Clinical Endocrinology & Metabolism · 10
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Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration
2025 · Stefan Groeneweg, Ferdy S. van Geest, et al. · Nature Communications · 6
Leigh Syndrome Due to mtDNA Pathogenic Variants
2019 · Cristina Pereira, Carolina Fischinger de Souza, et al. · Journal of Inborn Errors of Metabolism and Screening · 6
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Congenital Heart Defects and Dysmorphic Facial Features in Patients Suspicious of 22q11.2 Deletion Syndrome in Southern Brazil
2020 · Bruna Lixinski Diniz, Andressa Schneiders Santos, et al. · Journal of Pediatric Genetics · 5
Epidemiological surveillance in congenital anomalies and rare diseases in Brazil: present situation and future challenges
2025 · Lavínia Schuler-Faccini, Simone de Menezes Karam, et al. · Journal of Community Genetics · 4
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Clinical and genetic features of Classic Galactosemia in the south of Brazil
2025 · Leonardo Simão Medeiros, Lucas Ferreira Teixeira, et al. · Molecular Genetics and Metabolism · 3
McCune-Albright syndrome – A case report with transmission electron microscopy
2021 · Victor Garcia Neto, Hiram Larangeira de Almeida Jr, et al. · Anais Brasileiros de Dermatologia · 3
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Paving the way for Brazil’s first national rare diseases registry: the RARAS data governance model
2025 · Filipe Andrade Bernardi, Vinícius Costa Lima, et al. · BMC Digital Health · 2
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Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study
2021 · Groeneweg S, van Geest FS, et al. · Yearbook of pediatric endocrinology · 2
Is late diagnosis of Duchenne muscular dystrophy still a reality?
2025 · Michele Michelin Beckerq, Juliana Gurgel-Giannetti, et al. · European Journal of Paediatric Neurology · 1
Neurological Phenotypes Associated with AAAS-Related Disorders: Spastic Ataxia and Complex Spastic Paraplegia
2020 · Cláudia Fernandes Lorea, Renata Barreto Tenório, et al. · The Cerebellum · 1
Rare diseases in Brazil: a nationwide analysis of the diagnostic odyssey
2026 · Bibiana Mello de Oliveira, Monique Sartori Broch, et al. · Journal of Community Genetics
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Glucose Transporter Deficiency Syndrome Type 1 (Glut1‐ DS ): New Insights From a Brazilian Cohort of Patients
2026 · Lívia Maria Ferreira Sobrinho, Juliana Cristine Fontana, et al. · JIMD Reports
Epidemiological data on patients registered at the Brazilian Rare Diseases Network receiving nutritional care
2026 · M.L. Scortegagna, C.F. Lorea, et al. · Molecular Genetics and Metabolism
Minimum genomic data sets for rare diseases: A systematic review
2026 · Filipe Andrade Bernardi, Natana Chaves Rabelod, et al. · Research Square
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Epidemiology of congenital heart defects in live births: findings from a study in Southern Brazil
2026 · Fabyanne Guimarães de Oliveira, George Octávio da Costa Salecker, et al. · BMC Cardiovascular Disorders
A Scalable Computational Pipeline for Collaborative Translation and Validation of Biomedical Ontologies: The PORTI-HPO Platform
2026 · Filipe Bernardi, Julio Souza, et al. · Lecture notes in computer science
Expanding awareness of Rare Diseases through social media: The experience of the Brazilian Rare Diseases Network
2026 · Bibiana Mello de Oliveira, Laura Cordeiro Milke, et al. · Rare
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Recurrent Homozygous DOCK8 Microdeletion Suggests a Founder Mutation in Two Unrelated Kaingang Children
2025 · Laura Boueri Ticle Lima, Martina Schroeder Wissmann, et al. · Journal of Human Immunity
Standardizing rare disease data in Brazil: a Delphi-based approach for the First National Registry
2025 · Filipe Andrade Bernardi, Tatiana Takahasi Komoto, et al. · Journal of Rare Diseases
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PCR186 JAV-RARAS: Evaluation of Adherence to Clinical Protocol and Therapeutic Guidelines (PCDT) for Mucopolysaccharidosis Type 2 (MPS2) at Codajás Polyclinic - An Analysis of the Value-Based Care Journey
2025 · Camila C. Azevedo, Marcelo E. Nita, et al. · Value in Health
EE68 JAV-RARAS: Analysis of Adherence to Clinical Protocols and Therapeutic Guidelines (PCDT) for Rare Diseases – A Comparison of Real-World Clinical Practice in the Context of the Value-Based Care Journey for RARAS
2025 · Camila Azevedo, Marcelo E. Nita, et al. · Value in Health
Works count: 48
Citation count: 190
H-index: 6
I10-index: 4
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