Erin Crist

PTEN somatic mutations contribute to spectrum of cerebral overgrowth

Daniel C. Koboldt, Katherine E. Miller, Anthony R. Miller et al. · Brain · 2021 · 44 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Somatic <i>SLC35A2</i> mosaicism correlates with clinical findings in epilepsy brain tissue

Katherine E. Miller, Daniel C. Koboldt, Kathleen M. Schieffer et al. · Neurology Genetics · 2020 · 38 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations in <i>PLS1</i> , encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss

Anna Morgan, Daniel C. Koboldt, Elizabeth S. Barrie et al. · Human Mutation · 2019 · 29 citations

Life Sciences, Genetics, Molecular Genetics +15

YAP1-FAM118B Fusion Defines a Rare Subset of Childhood and Young Adulthood Meningiomas

Kathleen M. Schieffer, Vibhuti Agarwal, Stephanie LaHaye et al. · The American Journal of Surgical Pathology · 2020 · 27 citations

Medicine, Molecular Genetics, Oncology +16

Expanding the spectrum of <i>CEP55</i>‐associated disease to viable phenotypes

Elizabeth S. Barrie, Eline Overwater, Mieke M. van Haelst et al. · American Journal of Medical Genetics Part A · 2020 · 10 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17