Kameryn M. Butler
Greenwood Genetic Center(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Epigenetics and DNA Methylation, Genomic variations and chromosomal abnormalities, Epilepsy research and treatment
Most-Cited Works
- → De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy(2018)114 cited
- → Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel(2017)111 cited
- → SLC6A1variants identified in epilepsy patients reduce γ‐aminobutyric acid transport(2018)54 cited
- → De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis(2016)40 cited
- → ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy(2022)29 cited
- → Epileptic Encephalopathy and Cerebellar Atrophy Resulting from Compound Heterozygous CACNA2D2 Variants(2018)25 cited
- → Analysis of X‐inactivation status in a Rett syndrome natural history study cohort(2022)23 cited
- → DNA methylation episignature in Gabriele-de Vries syndrome(2022)16 cited
- → DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency(2022)16 cited
- → Mutations in the Scn8a DIIS4 voltage sensor reveal new distinctions among hypomorphic and null Nav1.6 sodium channels(2019)11 cited