Mauricio De Castro

Determining the prevalence of McArdle disease from gene frequency by analysis of next-generation sequencing data

Mauricio De Castro, Jennifer J. Johnston, Leslie G. Biesecker · Genetics in Medicine · 2015 · 59 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement

Rebecca C. Ahrens‐Nicklas, Lars Schlotawa, Andrea Ballabio et al. · Molecular Genetics and Metabolism · 2018 · 53 citations

Life Sciences, Molecular Medicine, Hepatology +11

Automated typing of red blood cell and platelet antigens from whole exome sequences

William J. Lane, Sunitha Vege, Helen Mah et al. · Transfusion · 2019 · 50 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra‐rare disease

Laura Adang, Lars Schlotawa, Samuel Groeschel et al. · Journal of Inherited Metabolic Disease · 2020 · 48 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Genetics and Genomic Medicine in Colombia

Mauricio De Castro, Carlos Martín Restrepo · Molecular Genetics & Genomic Medicine · 2015 · 40 citations · Full text

Life Sciences, Clinical Sciences, Genetics +6