| 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 | 68 | 2009 |
| Pervasive variation of transcription factor orthologs contributes to regulatory network evolution S Nadimpalli, AV Persikov, M Singh PLoS genetics 11 (3), e1005011, 2015 | 28 | 2015 |
| 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 | 20 | 2019 |
| 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 | 16 | 2021 |
| 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 | 12 | 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 | 11 | 2020 |
| 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 | 8 | 2023 |
| 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 | 6 | 2022 |
| 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 | 3 | 2023 |
| 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 |
| Deep learning for diagnosing patients with rare genetic diseases E Alsentzer, MM Li, SN Kobren, Undiagnosed Diseases Network, ... medRxiv, 2022.12. 07.22283238, 2022 | 3 | 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 | 3 | 2022 |
| 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), 1-22, 2024 | 2 | 2024 |
| 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 | 2 | 2024 |
| Simulation of undiagnosed patients with novel genetic conditions E Alsentzer, SG Finlayson, MM Li, Undiagnosed Diseases Network, ... Nature Communications 14 (1), 6403, 2023 | 2 | 2023 |
| 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 | 2 | 2023 |
| Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care MC Halley, JL Young, C Tang, KT Mintz, S Lucas-Griffin, AS Maghiro, ... The Journal of Pediatrics 261, 113537, 2023 | 1 | 2023 |
| A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network RC Spillmann, QKG Tan, C Reuter, K Schoch, UD Network, J Kohler, ... Genetics in Medicine 25 (4), 100353, 2023 | 1 | 2023 |
| Genetic counselor roles in the undiagnosed diseases network research study: Clinical care, collaboration, and curation JN Kohler, EG Kelley, BM Boyd, CH Sillari, S Marwaha, ... Journal of genetic counseling 31 (2), 326-337, 2022 | 1 | 2022 |
