Stephanie DiTroia

Genome Sequencing for Diagnosing Rare Diseases

Monica H. Wojcik, Gabrielle Lemire, Eva Berger et al. · New England Journal of Medicine · 2024 · 144 citations · Full text

Maternal vitamin C regulates reprogramming of DNA methylation and germline development

Stephanie DiTroia, Michelle Percharde, Marie-Justine Guerquin et al. · Nature · 2019 · 114 citations · Full text

Maternal Vitamin C, Chromatin, Developmental Biology +12

<i>seqr</i> : A web‐based analysis and collaboration tool for rare disease genomics

Lynn Pais, Hana Snow, Ben Weisburd et al. · Human Mutation · 2022 · 105 citations · Full text

Causal Variants, Web‐based Analysis, Genetics +23

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

Alicia B. Byrne, Peer Arts, Thuong Ha et al. · Nature Medicine · 2023 · 54 citations · Full text

Familial thrombocytopenia due to a complex structural variant resulting in a <i>WAC-ANKRD26</i> fusion transcript

Lara Wahlster, Jeffrey M. Verboon, Leif S. Ludwig et al. · The Journal of Experimental Medicine · 2021 · 30 citations · Full text

Genetics, Genetic Epidemiology, Pathology +20