Eryn Fitch

Assessing the landscape of <i>STXBP1</i>-related disorders in 534 individuals

Julie Xian, Shridhar Parthasarathy, Sarah M. Ruggiero et al. · Brain · 2021 · 122 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders

Katherine Crawford, Julie Xian, Katherine L. Helbig et al. · Genetics in Medicine · 2021 · 69 citations · Full text

Life Sciences, Bioinformatics, Genetics +15

High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity

Carlos G. Vanoye, Reshma R. Desai, Zhigang Ji et al. · JCI Insight · 2022 · 65 citations · Full text

Medicine, Molecular Genetics, Pharmacology +17

Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

Joshua E. Motelow, Gundula Povysil, Ryan S. Dhindsa et al. · The American Journal of Human Genetics · 2021 · 60 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

Ludovica Montanucci, David Lewis‐Smith, Ryan L. Collins et al. · Nature Communications · 2023 · 56 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17