Emma Sexton

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

Children’s rare disease cohorts: an integrative research and clinical genomics initiative

Shira Rockowitz, Nicholas LeCompte, Mary M. Carmack et al. · npj Genomic Medicine · 2020 · 65 citations · Full text

Medicine, Bioinformatics, Pediatrics +17

Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy

Hyun Yong Koh, Lacey Smith, Kimberly Wiltrout et al. · JAMA Network Open · 2023 · 39 citations · Full text

Medicine, Genetics, Molecular Genetics +17