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Sandra Brasil

Artificial Intelligence (AI) in Rare Diseases: Is the Future Brighter?
2019 · Sandra Brasil, Carlota Pascoal, et al. · Genes · 160
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International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up
2019 · Ruqaiah Altassan, Romain Péanne, et al. · Journal of Inherited Metabolic Disease · 149
The challenge of CDG diagnosis
2018 · R. Francisco, D. Marques-da-Silva, et al. · Molecular Genetics and Metabolism · 134
CDG Therapies: From Bench to Bedside
2018 · Sandra Brasil, Carlota Pascoal, et al. · International Journal of Molecular Sciences · 100
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International consensus guidelines for phosphoglucomutase 1 deficiency ( PGM1‐CDG ): Diagnosis, follow‐up, and management
2020 · Ruqaiah Altassan, Silvia Radenkovic, et al. · Journal of Inherited Metabolic Disease · 67
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Congenital disorders of glycosylation (CDG): state of the art in 2022
2023 · Rita Francisco, Sandra Brasil, et al. · Orphanet Journal of Rare Diseases · 66
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Protein misfolding diseases: Prospects of pharmacological treatment
2017 · A. Gámez, P. Yuste‐Checa, et al. · Clinical Genetics · 63
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The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein
2015 · Patricia Yuste-Checa, Alejandra Gámez, et al. · Human Mutation · 55
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Pharmacological Chaperoning: A Potential Treatment for PMM2-CDG
2016 · Patricia Yuste-Checa, Sandra Brasil, et al. · Human Mutation · 52
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Patient and observer reported outcome measures to evaluate health-related quality of life in inherited metabolic diseases: a scoping review
2018 · Carlota Pascoal, Sandra Brasil, et al. · Orphanet Journal of Rare Diseases · 51
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Artificial Intelligence in Epigenetic Studies: Shedding Light on Rare Diseases
2021 · Sandra Brasil, Cátia José Neves, et al. · Frontiers in Molecular Biosciences · 47
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New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach
2020 · Rita Francisco, Carlota Pascoal, et al. · Journal of Clinical Medicine · 40
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Pharmacological chaperones as a potential therapeutic option in methylmalonic aciduria cblB type
2013 · A. Jorge-Finnigan, S. Brasil, et al. · Human Molecular Genetics · 38
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Pseudoexon exclusion by antisense therapy in 6-pyruvoyl-tetrahydropterin synthase deficiency
2011 · Sandra Brasil, Hiu Man Viecelli, et al. · Human Mutation · 29
Epidemiology of congenital disorders of glycosylation (CDG)—overview and perspectives
2022 · Ana Piedade, Rita Francisco, et al. · Journal of Rare Diseases · 28
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Systematic Review: Drug Repositioning for Congenital Disorders of Glycosylation (CDG)
2022 · Sandra Brasil, Mariateresa Allocca, et al. · International Journal of Molecular Sciences · 20
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Generation and characterization of a human iPSC line from a patient with propionic acidemia due to defects in the PCCA gene
2017 · Esmeralda Alonso-Barroso, Sandra Brasil, et al. · Stem Cell Research · 20
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Methylmalonic aciduria cblB type: characterization of two novel mutations and mitochondrial dysfunction studies
2014 · S. Brasil, E. Richard, et al. · Clinical Genetics · 14
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Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias
2016 · M. Stojiljkovic, K. Klaassen, et al. · Clinical Genetics · 12
Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG): listening to what matters for the patients and health professionals
2022 · C. Pascoal, I. Ferreira, et al. · Orphanet Journal of Rare Diseases · 10
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New perspectives for pharmacological chaperoning treatment in methylmalonic aciduria cblB type
2017 · S. Brasil, A. Briso-Montiano, et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 10
Stakeholders’ views on drug development: the congenital disorders of glycosylation community perspective
2022 · Maria Monticelli, Rita Francisco, et al. · Orphanet Journal of Rare Diseases · 9
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Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants
2018 · Sandra Brasil, Fátima Leal, et al. · Orphanet Journal of Rare Diseases · 7
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The road to successful people-centric research in rare diseases: the web-based case study of the Immunology and Congenital Disorders of Glycosylation questionnaire (ImmunoCDGQ)
2022 · Rita Francisco, Sandra Brasil, et al. · Orphanet Journal of Rare Diseases · 6
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Isolated and Combined Remethylation Disorders
2017 · Eva Richard, Sandra Brasil, et al. · Journal of Inborn Errors of Metabolism and Screening · 6
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Works count: 62
Citation count: 1,205
H-index: 17
I10-index: 21
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