| Evolving soft robotic locomotion in PhysX J Rieffel, F Saunders, S Nadimpalli, H Zhou, S Hassoun, J Rife, B Trimmer Proceedings of the 11th annual conference companion on genetic and …, 2009 | 73 | 2009 |
| Pervasive variation of transcription factor orthologs contributes to regulatory network evolution S Nadimpalli, AV Persikov, M Singh PLoS genetics 11 (3), e1005011, 2015 | 31 | 2015 |
| Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases SN Kobren, D Baldridge, M Velinder, JB Krier, K LeBlanc, C Esteves, ... Genetics in Medicine 23 (6), 1075-1085, 2021 | 25 | 2021 |
| Formatt: Correcting protein multiple structural alignments by incorporating sequence alignment NM Daniels, S Nadimpalli, LJ Cowen BMC bioinformatics 13, 1-8, 2012 | 23 | 2012 |
| Systematic domain-based aggregation of protein structures highlights DNA-, RNA-and other ligand-binding positions SN Kobren, M Singh Nucleic acids research 47 (2), 582-593, 2019 | 22 | 2019 |
| Bi-allelic variants in INTS11 are associated with a complex neurological disorder B Tepe, EL Macke, M Niceta, MW Hubshman, O Kanca, L Schultz-Rogers, ... The American Journal of Human Genetics 110 (5), 774-789, 2023 | 21 | 2023 |
| A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy LC Briere, MA Walker, FA High, C Cooper, CA Rogers, CJ Callahan, ... Molecular Case Studies 7 (3), a005827, 2021 | 15 | 2021 |
| PertInInt: an integrative, analytical approach to rapidly uncover cancer driver genes with perturbed interactions and functionalities SN Kobren, B Chazelle, M Singh Cell systems 11 (1), 63-74. e7, 2020 | 13 | 2020 |
| A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder SP Shankar, K Grimsrud, L Lanoue, A Egense, B Willis, J Hörberg, ... Genetics in Medicine 24 (7), 1567-1582, 2022 | 12 | 2022 |
| HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder E Niggl, A Bouman, LC Briere, RM Hoogenboezem, I Wallaard, J Park, ... The American Journal of Human Genetics 110 (8), 1414-1435, 2023 | 11 | 2023 |
| RExPRT: a machine learning tool to predict pathogenicity of tandem repeat loci S Fazal, MC Danzi, I Xu, SN Kobren, S Sunyaev, C Reuter, S Marwaha, ... Genome biology 25 (1), 39, 2024 | 10 | 2024 |
| The contribution of mosaicism to genetic diseases and de novo pathogenic variants RJ Tinker, L Bastarache, K Ezell, SN Kobren, C Esteves, JA Rosenfeld, ... American Journal of Medical Genetics Part A 191 (10), 2482-2492, 2023 | 7 | 2023 |
| A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 MS Paul, SL Michener, H Pan, H Chan, JM Pfliger, JA Rosenfeld, ... The American Journal of Human Genetics 111 (1), 96-118, 2024 | 6 | 2024 |
| Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy V Shashi, K Schoch, R Ganetzky, PG Kranz, N Sondheimer, ML Markert, ... Genetics in Medicine 25 (9), 100897, 2023 | 6 | 2023 |
| Few shot learning for phenotype-driven diagnosis of patients with rare genetic diseases E Alsentzer, MM Li, SN Kobren, A Noori, Undiagnosed Diseases Network, ... medRxiv, 2022.12. 07.22283238, 2022 | 6 | 2022 |
| Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome MN Bainbridge, A Mazumder, D Ogasawara, R Abou Jamra, G Bernard, ... Brain 145 (10), 3383-3390, 2022 | 6 | 2022 |
| Simulation of undiagnosed patients with novel genetic conditions E Alsentzer, SG Finlayson, MM Li, Undiagnosed Diseases Network, ... Nature Communications 14 (1), 6403, 2023 | 4 | 2023 |
| Few shot learning for phenotype-driven diagnosis of patients with rare genetic diseases E Alsentzer, MM Li, SN Kobren, A Noori, IS Kohane, M Zitnik medRxiv, 2022.12. 07.22283238, 2024 | 3 | 2024 |
| De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features JC Andrews, JW Mok, O Kanca, S Jangam, C Tifft, EF Macnamara, ... Genetics in Medicine 25 (6), 100833, 2023 | 3 | 2023 |
| Dominant‐negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome J Pujol‐Giménez, G Mirzaa, EE Blue, G Albano, DE Miller, A Allworth, ... Annals of Clinical and Translational Neurology 10 (6), 1046-1053, 2023 | 3 | 2023 |
