| The human phenotype ontology in 2021 S Köhler, M Gargano, N Matentzoglu, LC Carmody, D Lewis-Smith, ... Nucleic acids research 49 (D1), D1207-D1217, 2021 | 798 | 2021 |
| Analyzing 2,589 child neurology telehealth encounters necessitated by the COVID-19 pandemic SC Rametta, SE Fridinger, AK Gonzalez, J Xian, PD Galer, M Kaufman, ... Neurology 95 (9), e1257-e1266, 2020 | 127 | 2020 |
| A recurrent missense variant in AP2M1 impairs clathrin-mediated endocytosis and causes developmental and epileptic encephalopathy I Helbig, T Lopez-Hernandez, O Shor, P Galer, S Ganesan, M Pendziwiat, ... The American Journal of Human Genetics 104 (6), 1060-1072, 2019 | 92 | 2019 |
| 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 |
| Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders K Crawford, J Xian, KL Helbig, PD Galer, S Parthasarathy, D Lewis-Smith, ... Genetics in Medicine 23 (7), 1263-1272, 2021 | 45 | 2021 |
| The effect of vitamin D supplementation on attention-deficit/hyperactivity disorder: a systematic review and meta-analysis of randomized controlled trials J Gan, P Galer, D Ma, C Chen, T Xiong Journal of child and adolescent psychopharmacology 29 (9), 670-687, 2019 | 41 | 2019 |
| Mapping the knowledge structure and trends of epilepsy genetics over the past decade: A co-word analysis based on medical subject headings terms J Gan, Q Cai, P Galer, D Ma, X Chen, J Huang, S Bao, R Luo Medicine 98 (32), e16782, 2019 | 39 | 2019 |
| 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 |
| 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 |
| The associations between pain-related beliefs, pain intensity, and patient functioning: Hypnotizability as a moderator MP Jensen, PD Galer, LL Johnson, HR George, ME Mendoza, KJ Gertz The Clinical journal of pain 32 (6), 506-512, 2016 | 26 | 2016 |
| Extracting seizure frequency from epilepsy clinic notes: a machine reading approach to natural language processing K Xie, RS Gallagher, EC Conrad, CO Garrick, SN Baldassano, ... Journal of the American Medical Informatics Association 29 (5), 873-881, 2022 | 25 | 2022 |
| Whole‐exome and HLA sequencing in Febrile infection‐related epilepsy syndrome I Helbig, G Barcia, M Pendziwiat, S Ganesan, SH Mueller, KL Helbig, ... Annals of Clinical and Translational Neurology 7 (8), 1429-1435, 2020 | 18 | 2020 |
| Modeling seizures in the Human Phenotype Ontology according to contemporary ILAE concepts makes big phenotypic data tractable D Lewis‐Smith, PD Galer, G Balagura, H Kearney, S Ganesan, M Cosico, ... Epilepsia 62 (6), 1293-1305, 2021 | 17 | 2021 |
| Computational analysis of neurodevelopmental phenotypes: Harmonization empowers clinical discovery D Lewis‐Smith, S Parthasarathy, J Xian, MC Kaufman, S Ganesan, ... Human mutation 43 (11), 1642-1658, 2022 | 11 | 2022 |
| 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 |
| Enriching representation learning using 53 million patient notes through human phenotype ontology embedding M Daniali, PD Galer, D Lewis-Smith, S Parthasarathy, E Kim, DD Salvucci, ... Artificial intelligence in medicine 139, 102523, 2023 | 9* | 2023 |
| Visits of concern in child neurology telemedicine M Prelack, S Fridinger, AK Gonzalez, MC Kaufman, J Xian, PD Galer, ... Developmental Medicine & Child Neurology 64 (11), 1351-1358, 2022 | 5 | 2022 |
| 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 |
| Artificial intelligence in epilepsy phenotyping A Knight, T Gschwind, P Galer, GA Worrell, B Litt, I Soltesz, S Beniczky Epilepsia, 2023 | 2 | 2023 |
