Christelle Moufawad El Achkar

Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease

Jin‐Kuk Kim, Chunguang Hu, Christelle Moufawad El Achkar et al. · New England Journal of Medicine · 2019 · 772 citations · Full text

Genetic Diseases, Neurodegenerative Diseases, Miracle Foundation +13

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

Katherine L. Helbig, Robert J. Lauerer, Jacqueline C Bahr et al. · The American Journal of Human Genetics · 2018 · 145 citations · Full text

Epileptic Encephalopathy, Neurobiology Of Disease, Pathogenesis +10

A framework for individualized splice-switching oligonucleotide therapy

Jin‐Kuk Kim, Sijae Woo, Claudio M. de Gusmão et al. · Nature · 2023 · 135 citations · Full text

Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort

Anne Rochtus, Heather E. Olson, Lacey Smith et al. · Epilepsia · 2020 · 123 citations · Full text

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

Julie Xian, Shridhar Parthasarathy, Sarah M. Ruggiero et al. · Brain · 2021 · 111 citations · Full text