Rebecca Pinsky

Copy number variation plays an important role in clinical epilepsy

Heather E. Olson, Yiping Shen, Jennifer Avallone et al. · Annals of Neurology · 2014 · 173 citations

Life Sciences, Genetics, Molecular Genetics +17

Genetics and genotype–phenotype correlations in early onset epileptic encephalopathy with burst suppression

Heather E. Olson, McKenna Kelly, Christopher M. LaCoursiere et al. · Annals of Neurology · 2017 · 144 citations

Life Sciences, Genetics, Molecular Genetics +17

Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome

Heather E. Olson, Dimira Tambunan, Christopher M. LaCoursiere et al. · American Journal of Medical Genetics Part A · 2015 · 78 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes

Siwei Chen, Bassel Abou‐Khalil, Zaid Afawi et al. · Nature Neuroscience · 2024 · 56 citations · Full text

Life Sciences, Genetics, Molecular Genetics +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