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Diana Rojas Málaga

Observed names: DIana Rojas Málaga, Diana E Rojas-Málaga, Diana Elizabeth Rojas Málaga, Diana R. Malaga, Diana Rojas Malaga, Diana Rojas-Málaga, Diana Rojas‐Málaga, Málaga, Diana Elizabeth Rojas, Málaga, Diana Rojas, Rojas Málaga, Diana, Rojas Málaga, Diana Elizabeth, Rojas-Málaga, Diana
ORCID: 0000-0001-8107-7621
Observed ORCID: 0000-0001-8107-7621
OpenAlex ID: A5086982571
Diagnosis of Mucopolysaccharidoses
2020 · Francyne Kubaski, Fabiano de Oliveira Poswar, et al. · Diagnostics · 83
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Investigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in Brazil
2017 · Heydy Bravo, Eurico Camargo Neto, et al. · Molecular Genetics and Metabolism Reports · 35
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Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders
2019 · Diana Rojas Málaga, Ana Carolina Brusius-Facchin, et al. · Genetics and Molecular Biology · 34
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Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions
2021 · Juliana Alves Josahkian, Franciele Barbosa Trapp, et al. · Genetics and Molecular Biology · 25
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Precision Medicine for Lysosomal Disorders
2020 · Filippo Pinto e Vairo, Diana Rojas Málaga, et al. · Biomolecules · 24
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Phenotype-oriented NGS panels for mucopolysaccharidoses: Validation and potential use in the diagnostic flowchart
2019 · Ana Carolina Brusius-Facchin, Marina Siebert, et al. · Genetics and Molecular Biology · 19
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Recent advances in molecular testing to improve early diagnosis in children with mucopolysaccharidoses
2018 · Ana Carolina Brusius-Facchin, Diana Rojas Malaga, et al. · Expert Review of Molecular Diagnostics · 13
MLPA followed by target‐NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB
2021 · María Luisa Guevara‐Fujita, Francia Huaman‐Dianderas, et al. · Molecular Genetics & Genomic Medicine · 12
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Genotype–phenotype studies in a large cohort of Brazilian patients with Hunter syndrome
2021 · Juliana Alves Josahkian, Ana Carolina Brusius‐Facchin, et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 11
Impact of genetic background as a risk factor for atherosclerotic cardiovascular disease: A protocol for a nationwide genetic case-control (CV-GENES) study in Brazil
2024 · Haliton Alves de Oliveira, Precil Diego Miranda de Menezes Neves, et al. · PLoS ONE · 5
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Detección de mutaciones causantes de distrofia muscular de Duchenne/Becker: reacción en cadena de la polimerasa multiplex vs. amplificación múltiple dependiente de ligación por sondas
2019 · Francia DP Huaman-Dianderas, María Luisa Guevara-Fujita, et al. · Revista Peruana de Medicina Experimental y Salud Pública · 5
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Genes, exposures, and interactions on preterm birth risk: an exploratory study in an Argentine population
2022 · Dario E. Elias, Maria R. Santos, et al. · Journal of Community Genetics · 2
A Case Report on the Challenging Diagnosis of Neuronal Ceroid Lipofuscinosis Type 2 (CLN2)
2020 · Andrea Nunes, Joanna Meira, et al. · Journal of Inborn Errors of Metabolism and Screening · 2
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Investigation of newborns screened in a pilot program for four lysosomal diseases in Brazil
2017 · Heydy V Bravo-Villalta, Eurico C Neto, et al. · Molecular Genetics and Metabolism · 2
Research Article Pseudo deficiency of acid α-glucosidase: a challenge in the newborn screening for Pompe diseases
2017 · Diana Rojas Málaga, Ana C Brusius Facchin, et al. · Genetics and Molecular Research · 2
Impact of Genetic Background as a Risk Factor for Atherosclerotic Cardiovascular Disease: A Protocol for a Nationwide Genetic Case-Control (CV-GENES) study in Brazil
2023 · Antônio José Cordeiro Mattos, Precil Diego Miranda de Menezes Neves, et al. · medRxiv · 1
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Detección de la mutación E8SJM en el gen LIPA, por PCR en tiempo real, para la investigación de la enfermedad por almacenamiento de ésteres de colesterol
2018 · Diana Rojas Málaga, Ursula Matte, et al. · Anales de la Facultad de Medicina · 1
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Correction: Impact of genetic background as a risk factor for atherosclerotic cardiovascular disease: A protocol for a nationwide genetic case-control (CV-GENES) study in Brazil
2025 · Haliton Alves de Oliveira Junior, Precil Diego Miranda de Menezes Neves, et al. · PLoS ONE
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Standardization of an organic DNA extraction method from dried blood spots and its downstream molecular applications for neonatal screening and diagnostic confirmation of lysosomal disorders
2023 · Brinckmann Oliveira Netto, Alice, Rojas Málaga, Diana, et al. · LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Científicas)
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Gene-environment interactions and preterm birth predictors: A Bayesian network approach
2023 · Dario E. Elias, Maria R. Santos, et al. · Genetics and Molecular Biology
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Standardization of an organic DNA extraction method from dried blood spots and its downstream molecular applications for neonatal screening and diagnostic confirmation of lysosomal disorders
2022 · Alice Brinckmann Oliveira Netto, Diana Rojas Málaga, et al. · Clinical & Biomedical Research
Standardization of an organic DNA extraction method from dried blood spots and its downstream molecular applications in neonatal screening and diagnostic confirmation of lysosomal disorders
2022 · Alice Brinckmann Oliveira Netto, Diana Rojas Málaga, et al. · Clinical & Biomedical Research
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Dataset - Mlpa Followed by Target-ngs to Detect Mutations in the Dystrophin Gene of Peruvian Patients Suspected of Dmd/dmb
2021 · Guevara-Fujita, María Luisa., Huaman-Dianderas, Francia, et al. · Figshare
Report of the first Brazilian patients with MPS IIID, with the observation of an unexpected increase of di-sulfated keratan sulfate
2021 · Francyne Kubaski, Diego Miguel, et al. · Molecular Genetics and Metabolism
Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions
2021 · Josahkian, Juliana Alves, Franciele Barbosa Trapp, et al. · Figshare
Works count: 36
Citation count: 276
H-index: 9
I10-index: 9
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