Patient-customized oligonucleotide therapy for a rare genetic disease J Kim, C Hu, C Moufawad El Achkar, LE Black, J Douville, A Larson, ... New England Journal of Medicine 381 (17), 1644-1652, 2019 | 531 | 2019 |
Clinical characteristics of children and young adults with co-occurring autism spectrum disorder and epilepsy CM El Achkar, SJ Spence Epilepsy & Behavior 47, 183-190, 2015 | 185 | 2015 |
De novo pathogenic variants in CACNA1E cause developmental and epileptic encephalopathy with contractures, macrocephaly, and dyskinesias KL Helbig, RJ Lauerer, JC Bahr, IA Souza, CT Myers, B Uysal, N Schwarz, ... The American Journal of Human Genetics 103 (5), 666-678, 2018 | 116 | 2018 |
The genetic landscape of epilepsy of infancy with migrating focal seizures R Burgess, S Wang, A McTague, KE Boysen, X Yang, Q Zeng, KA Myers, ... Annals of neurology 86 (6), 821-831, 2019 | 115 | 2019 |
Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome MF Pescosolido, DM Stein, M Schmidt, CM El Achkar, M Sabbagh, ... Annals of neurology 76 (4), 581-593, 2014 | 99 | 2014 |
Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort A Rochtus, HE Olson, L Smith, LG Keith, C El Achkar, A Taylor, S Mahida, ... Epilepsia 61 (2), 249-258, 2020 | 97 | 2020 |
PCDH19‐related epilepsy is associated with a broad neurodevelopmental spectrum L Smith, N Singhal, CM El Achkar, G Truglio, B Rosen Sheidley, J Sullivan, ... Epilepsia 59 (3), 679-689, 2018 | 94 | 2018 |
Assessing the landscape of STXBP1-related disorders in 534 individuals J Xian, S Parthasarathy, SM Ruggiero, G Balagura, E Fitch, K Helbig, ... Brain 145 (5), 1668-1683, 2022 | 65 | 2022 |
A recurrent de novo PACS2 heterozygous missense variant causes neonatal-onset developmental epileptic encephalopathy, facial dysmorphism, and cerebellar dysgenesis HE Olson, N Jean-Marçais, E Yang, D Heron, K Tatton-Brown, ... The American Journal of Human Genetics 102 (5), 995-1007, 2018 | 63 | 2018 |
Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy W XiangWei, V Kannan, Y Xu, GJ Kosobucki, AJ Schulien, H Kusumoto, ... Brain 142 (10), 3009-3027, 2019 | 57 | 2019 |
The genetics of the epilepsies CM El Achkar, HE Olson, A Poduri, PL Pearl Current Neurology and Neuroscience Reports 15, 1-14, 2015 | 40 | 2015 |
Characterization of a novel variant in siblings with asparagine synthetase deficiency SJ Sacharow, EE Dudenhausen, CL Lomelino, L Rodan, CM El Achkar, ... Molecular genetics and metabolism 123 (3), 317-325, 2018 | 32 | 2018 |
A framework for individualized splice-switching oligonucleotide therapy J Kim, S Woo, CM de Gusmao, B Zhao, DH Chin, RL DiDonato, ... Nature 619 (7971), 828-836, 2023 | 29 | 2023 |
Recurrent SLC1A2 variants cause epilepsy via a dominant negative mechanism AB Stergachis, J Pujol‐Giménez, G Gyimesi, D Fuster, G Albano, ... Annals of neurology 85 (6), 921-926, 2019 | 26 | 2019 |
Inherited metabolic epilepsies PL Pearl Springer Publishing Company, 2017 | 23 | 2017 |
De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria LH Rodan, CM El Achkar, GT Berry, A Poduri, SP Prabhu, E Yang, ... Journal of child neurology 32 (1), 127-131, 2017 | 21 | 2017 |
Polymicrogyria is Associated With Pathogenic Variants in PTEN DD Shao, CM Achkar, A Lai, S Srivastava, RN Doan, LH Rodan, AY Chen, ... Annals of neurology 88 (6), 1153-1164, 2020 | 19 | 2020 |
PRRT2-associated paroxysmal movement disorders D Ebrahimi-Fakhari, C Moufawad El Achkar, C Klein | 19 | 2018 |
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis PL Weng, AJ Majmundar, K Khan, TY Lim, S Shril, G Jin, J Musgrove, ... The American Journal of Human Genetics 108 (2), 357-367, 2021 | 18 | 2021 |
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability A Schalk, MA Cousin, NR Dsouza, TD Challman, KE Wain, Z Powis, ... Journal of medical genetics 59 (10), 965-975, 2022 | 17 | 2022 |