| 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 | 87 | 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 | 59 | 2021 |
| Staphylococcus lugdunensis: review of epidemiology, complications, and treatment S Parthasarathy, S Shah, AR Sager, A Rangan, S Durugu, SB Shah Cureus 12 (6), 2020 | 53 | 2020 |
| Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals L Montanucci, D Lewis-Smith, RL Collins, LM Niestroj, S Parthasarathy, ... Nature communications 14 (1), 4392, 2023 | 30 | 2023 |
| 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 | 23 | 2022 |
| 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 | 22 | 2022 |
| 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 | 20 | 2023 |
| SCN1A gain‐of‐function mutation causing an early onset epileptic encephalopathy J Clatot, S Parthasarathy, S Cohen, JL McKee, S Massey, A Somarowthu, ... Epilepsia 64 (5), 1318-1330, 2023 | 19 | 2023 |
| Predicting the functional effects of voltage-gated potassium channel missense variants with multi-task learning CM Boßelmann, UBS Hedrich, P Müller, L Sonnenberg, S Parthasarathy, ... EBioMedicine 81, 2022 | 19 | 2022 |
| Mortality in tuberous sclerosis complex S Parthasarathy, R Mahalingam, J Melchiorre, J Harowitz, O Devinsky Epilepsy & Behavior 121, 108032, 2021 | 15 | 2021 |
| Early life seizures and epileptic spasms in STXBP1‐related disorders KM Thalwitzer, J Xian, D de Campo, S Parthasarathy, J Magielski, ... Epilepsia 65 (3), 805-816, 2024 | 7 | 2024 |
| Staphylococcus lugdunensis: review of epidemiology, complications, and treatment. Cureus. 2020; 12 (6): e8801 S Parthasarathy, S Shah, A Raja Sager, A Rangan, S Durugu | 7 | |
| Concomitant Calcium Channelopathies Involving CACNA1A and CACNA1F: A Case Report and Review of the Literature D Schaare, SM Sarasua, L Lusk, S Parthasarathy, L Wang, I Helbig, ... Genes 14 (2), 400, 2023 | 4 | 2023 |
| Clinical signatures of genetic epilepsies precede diagnosis in electronic medical records of 32,000 individuals PD Galer, S Parthasarathy, J Xian, JL McKee, SM Ruggiero, S Ganesan, ... Genetics in Medicine 26 (11), 101211, 2024 | 3 | 2024 |
| Child neurology telemedicine: Analyzing 14 820 patient encounters during the first year of the COVID‐19 pandemic MC Kaufman, J Xian, PD Galer, S Parthasarathy, AK Gonzalez, JL McKee, ... Developmental Medicine & Child Neurology 65 (3), 406-415, 2023 | 3 | 2023 |
| Advances in big data and omics: Paving the way for discovery in childhood epilepsies J Magielski, I McSalley, S Parthasarathy, J McKee, S Ganesan, I Helbig Current Problems in Pediatric and Adolescent Health Care, 101634, 2024 | 2 | 2024 |
| The clinical and genetic spectrum of paediatric speech and language disorders in 52,143 individuals J Magielski, SM Ruggiero, J Xian, S Parthasarathy, P Galer, S Ganesan, ... medRxiv, 2024 | 2 | 2024 |
| The clinical and genetic spectrum of paediatric speech and language disorders JH Magielski, SM Ruggiero, J Xian, S Parthasarathy, PD Galer, ... Brain 148 (2), 663-674, 2025 | 1 | 2025 |
| Pathogenic paralogous variants can be used to apply the ACMG PS1 and PM5 variant interpretation criteria T Brünger, A Ivaniuk, E Pérez-Palma, L Montanucci, S Cohen, L Smith, ... medRxiv, 2023.08. 22.23294353, 2023 | 1 | 2023 |
| The SCN1A Philadelphia variant – a gain-of-function mutation causing an early-onset epileptic encephalopathy J Clatot, S Parthasarathy, S Cohen, J McKee, S Massey, A Somarowthu, ... bioRxiv, 2022.06. 29.498154, 2022 | 1 | 2022 |
