Sarah E. Sheppard

What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia

Ian M. Campbell, Sarah E. Sheppard, T. Blaine Crowley et al. · American Journal of Medical Genetics Part A · 2018 · 180 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Kaposiform lymphangiomatosis effectively treated with MEK inhibition

Jessica Foster, Dong Li, Michael March et al. · EMBO Molecular Medicine · 2020 · 104 citations · Full text

Medicine, Immunology, Oncology +13

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

Sarah E. Sheppard, Ian M. Campbell, Margaret Harr et al. · American Journal of Medical Genetics Part A · 2021 · 72 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Genomic profiling informs diagnoses and treatment in vascular anomalies

Dong Li, Sarah E. Sheppard, Michael March et al. · Nature Medicine · 2023 · 62 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

Sayaka Kayumi, Luis A. Pérez‐Jurado, María Palomares‐Bralo et al. · Genetics in Medicine · 2022 · 50 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17