| 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 | 61 | 2022 |
| Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome MA Cousin, BA Creighton, KA Breau, RC Spillmann, E Torti, S Dontu, ... Nature Genetics, 1-16, 2021 | 43 | 2021 |
| Impact of exercise and a complex environment on hippocampal dendritic morphology, Bdnf gene expression, and DNA methylation in male rat pups neonatally … KE Boschen, SE McKeown, TL Roth, AY Klintsova Developmental neurobiology 77 (6), 708-725, 2017 | 33 | 2017 |
| Semantic similarity analysis reveals robust gene-disease relationships in developmental and epileptic encephalopathies PD Galer, S Ganesan, D Lewis-Smith, SE McKeown, M Pendziwiat, ... The American Journal of Human Genetics 107 (4), 683-697, 2020 | 29 | 2020 |
| Natural history study of STXBP1-developmental and epileptic encephalopathy into adulthood H Stamberger, D Crosiers, G Balagura, CM Bonardi, A Basu, G Cantalupo, ... Neurology 99 (3), e221-e233, 2022 | 27 | 2022 |
| A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation S Ganesan, PD Galer, KL Helbig, SE McKeown, M O’Brien, AK Gonzalez, ... Genetics in Medicine 22 (12), 2060-2070, 2020 | 27 | 2020 |
| Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism M Chopra, M McEntagart, J Clayton-Smith, K Platzer, A Shukla, ... The American Journal of Human Genetics 108 (6), 1138-1150, 2021 | 17 | 2021 |
| A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism S Parthasarathy, SMK Ruggiero, A Gelot, FC Soardi, BFR Ribeiro, ... The American Journal of Human Genetics 109 (12), 2253-2269, 2022 | 16 | 2022 |
| Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy LC Bott, M Forouhan, M Lieto, AJ Sala, R Ellerington, JO Johnson, ... Brain communications 3 (4), fcab245, 2021 | 16 | 2021 |
| Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders L Burglen, E Van Hoeymissen, L Qebibo, M Barth, N Belnap, F Boschann, ... Elife 12, e81032, 2023 | 12 | 2023 |
| The current landscape of epilepsy genetics: where are we, and where are we going? SM Ruggiero, J Xian, I Helbig Current Opinion in Neurology 36 (2), 86-94, 2023 | 11 | 2023 |
| Phenotypic homogeneity in childhood epilepsies evolves in gene-specific patterns across 3251 patient-years of clinical data D Lewis-Smith, S Ganesan, PD Galer, KL Helbig, SE McKeown, ... European Journal of Human Genetics 29 (11), 1690-1700, 2021 | 11 | 2021 |
| A disease concept model for STXBP1‐related disorders KR Sullivan, SM Ruggiero, J Xian, KM Thalwitzer, R Ali, S Stewart, ... Epilepsia Open 8 (2), 320-333, 2023 | 8 | 2023 |
| A Gene Replacement Humanization Platform for Rapid Functional Testing of Clinical Variants in Epilepsy-associated STXBP1 K McCormick, T Brock, M Wood, L Guo, K McBride, C Kim, L Resch, S Pop, ... bioRxiv, 2021.08. 13.453827, 2021 | 6 | 2021 |
| Pathogenic SPTBN1 variants cause a novel autosomal dominant neurodevelopmental syndrome MA Cousin, KA Breau, BA Creighton, RC Spillmann, E Torti, S Dontu, ... medRxiv, 2020.08. 31.20184481, 2020 | 4 | 2020 |
| Loss of Grin2a causes a transient delay in the electrophysiological maturation of hippocampal parvalbumin interneurons CR Camp, A Vlachos, C Klöckner, I Krey, TG Banke, N Shariatzadeh, ... Communications Biology 6 (1), 952, 2023 | 3 | 2023 |
| Investigating the genetic contribution in febrile infection-related epilepsy syndrome and refractory status epilepticus D deCampo, J Xian, A Karlin, KR Sullivan, SM Ruggiero, P Galer, ... Frontiers in Neurology 14, 1161161, 2023 | 3 | 2023 |
| Spliceosome malfunction causes neurodevelopmental disorders with overlapping features D Li, Q Wang, A Bayat, MR Battig, Y Zhou, DGM Bosch, G van Haaften, ... The Journal of Clinical Investigation 134 (1), 2024 | 2 | 2024 |
| Delineating clinical and developmental outcomes in STXBP1-related disorders J Xian, KM Thalwitzer, J McKee, KR Sullivan, E Brimble, E Fitch, J Toib, ... Brain 146 (12), 5182-5197, 2023 | 2 | 2023 |
| Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1 KM Thalwitzer, JH Driedger, J Xian, A Saffari, P Zacher, BK Bölsterli, ... Neurology 101 (9), e879-e891, 2023 | 2 | 2023 |
