María Eugenia Rocha

Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort

Aida M. Bertoli‐Avella, Christian Beetz, Najim Ameziane et al. · European Journal of Human Genetics · 2020 · 125 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders

Aida M. Bertoli‐Avella, Krishna Kumar Kandaswamy, Suliman Khan et al. · Genetics in Medicine · 2021 · 56 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases

Yoshiko Murakami, Thi Tuyet Mai Nguyen, Nissan Baratang et al. · The American Journal of Human Genetics · 2019 · 52 citations · Full text

Life Sciences, Genetics, Neuroscience +13

Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility

Huma Arshad Cheema, Aida M. Bertoli‐Avella, Volha Skrahina et al. · npj Genomic Medicine · 2020 · 42 citations · Full text

Life Sciences, Genetics, Pediatrics +17

Immune dysregulation caused by homozygous mutations in CBLB

Erin Janssen, Zachary T. Peters, Mohammed F. Alosaimi et al. · Journal of Clinical Investigation · 2022 · 40 citations · Full text

Life Sciences, Genetics, Immunology +17