| De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP KR Veeramah, JE O'Brien, MH Meisler, X Cheng, SD Dib-Hajj, ... The American Journal of Human Genetics 90 (3), 502-510, 2012 | 481 | 2012 |
| Genome-wide patterns of gene flow across a house mouse hybrid zone KC Teeter, BA Payseur, LW Harris, MA Bakewell, LM Thibodeau, ... Genome research 18 (1), 67-76, 2008 | 270 | 2008 |
| Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects MH Meisler, JE O’brien, LM Sharkey The Journal of physiology 588 (11), 1841-1848, 2010 | 249 | 2010 |
| Dravet syndrome patient‐derived neurons suggest a novel epilepsy mechanism Y Liu, LF Lopez‐Santiago, Y Yuan, JM Jones, H Zhang, HA O'Malley, ... Annals of neurology 74 (1), 128-139, 2013 | 246 | 2013 |
| The splicing regulator Rbfox2 is required for both cerebellar development and mature motor function LT Gehman, P Meera, P Stoilov, L Shiue, JE O'Brien, MH Meisler, M Ares, ... Genes & development 26 (5), 445-460, 2012 | 243 | 2012 |
| Sodium channel SCN8A (Nav1. 6): properties and de novo mutations in epileptic encephalopathy and intellectual disability JE O'Brien, MH Meisler Frontiers in genetics 4, 65608, 2013 | 168 | 2013 |
| Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21) E Heon, G Kim, S Qin, JE Garrison, E Tavares, A Vincent, ... Human molecular genetics 25 (11), 2283-2294, 2016 | 131 | 2016 |
| A novel de novo mutation of SCN8A (Nav1. 6) with enhanced channel activation in a child with epileptic encephalopathy M Estacion, JE O'Brien, A Conravey, MF Hammer, SG Waxman, ... Neurobiology of disease 69, 117-123, 2014 | 129 | 2014 |
| Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy CGF De Kovel, MH Meisler, EH Brilstra, FMC van Berkestijn, R van‘t Slot, ... Epilepsy research 108 (9), 1511-1518, 2014 | 111 | 2014 |
| Keeping an eye on Bardet-Biedl syndrome: a comprehensive review of the role of Bardet-Biedl syndrome genes in the eye K Weihbrecht, WA Goar, T Pak, JE Garrison, AP DeLuca, EM Stone, ... Medical research archives 5 (9), 2017 | 93 | 2017 |
| BBSome function is required for both the morphogenesis and maintenance of the photoreceptor outer segment Y Hsu, JE Garrison, G Kim, AR Schmitz, CC Searby, Q Zhang, P Datta, ... PLoS genetics 13 (10), e1007057, 2017 | 70 | 2017 |
| Rbfox proteins regulate alternative splicing of neuronal sodium channel SCN8A JE O'Brien, VL Drews, JM Jones, JC Dugas, BA Barres, MH Meisler Molecular and Cellular Neuroscience 49 (2), 120-126, 2012 | 53 | 2012 |
| Interaction of voltage-gated sodium channel Nav1. 6 (SCN8A) with microtubule-associated protein Map1b JE O'Brien, LM Sharkey, CN Vallianatos, C Han, JC Blossom, T Yu, ... Journal of Biological Chemistry 287 (22), 18459-18466, 2012 | 46 | 2012 |
| The absence of BBSome function decreases synaptogenesis and causes ectopic synapse formation in the retina Y Hsu, JE Garrison, S Seo, VC Sheffield Scientific reports 10 (1), 8321, 2020 | 19 | 2020 |
| Absence of BBSome function leads to astrocyte reactivity in the brain M Singh, JE Garrison, K Wang, VC Sheffield Molecular brain 12, 1-19, 2019 | 18 | 2019 |
| Subretinal gene therapy delays vision loss in a Bardet-Biedl Syndrome type 10 mouse model Y Hsu, S Bhattarai, JM Thompson, A Mahoney, J Thomas, SK Mayer, ... Molecular Therapy-Nucleic Acids 31, 164-181, 2023 | 7 | 2023 |
| Gene interactions and modifiers in epilepsy MH Meisler, JE O’Brien Jasper's Basic Mechanisms of the Epilepsies [Internet]. 4th edition, 2012 | 7 | 2012 |
| Application of a novel tiling-path array CGH platform reveals additional genetic heterogeneity in Toriello Carey syndrome E Hatchwell, C Wang, JE O’Brien, W Allen, M Pettanati, C Montagna, ... Nashville: American College of Medical Genetics meeting, 2007 | 5 | 2007 |
| Retinal degeneration in BBS10 mice is ameliorated by subretinal gene replacement AV Drack, S Bhattarai, J Thomas, E Stalter, P Datta, J Garrison, C Searby, ... Investigative Ophthalmology & Visual Science 61 (7), 1914-1914, 2020 | 2 | 2020 |
| Subretinal gene replacement rescues retinal phenotype in BBS10 mouse AV Drack, A Mahoney, S Bhattarai, S Mayer, J Thomas, P Datta, Y Hsu, ... Investigative Ophthalmology & Visual Science 62 (8), 1178-1178, 2021 | 1 | 2021 |
