Predicting the clinical impact of human mutation with deep neural networks L Sundaram, H Gao, SR Padigepati, JF McRae, Y Li, JA Kosmicki, ... Nature genetics 50 (8), 1161-1170, 2018 | 389 | 2018 |
Chromatin and gene-regulatory dynamics of the developing human cerebral cortex at single-cell resolution AE Trevino, F Müller, J Andersen, L Sundaram, A Kathiria, A Shcherbina, ... Cell 184 (19), 5053-5069. e23, 2021 | 252 | 2021 |
Deep Learning-Based Techniques for Training Deep Convolutional Neural Networks H Gao, F Kai-How, L Sundaram, JF McRAE US Patent App. 16/160,903, 2019 | 85 | 2019 |
The landscape of tolerated genetic variation in humans and primates H Gao, T Hamp, J Ede, JG Schraiber, J McRae, M Singer-Berk, Y Yang, ... Science 380 (6648), eabn8153, 2023 | 59 | 2023 |
Semantic edge labeling over legal citation graphs A Sadeghian, L Sundaram, D Wang, W Hamilton, K Branting, C Pfeifer Proceedings of the workshop on legal text, document, and corpus analytics …, 2016 | 51* | 2016 |
Working toward precision medicine: Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges R Daneshjou, Y Wang, Y Bromberg, S Bovo, PL Martelli, G Babbi, ... Human mutation 38 (9), 1182-1192, 2017 | 49 | 2017 |
DeepBipolar: Identifying genomic mutations for bipolar disorder via deep learning S Laksshman, RR Bhat, V Viswanath, X Li Human mutation 38 (9), 1217-1224, 2017 | 47 | 2017 |
Beyond the exome: what’s next in diagnostic testing for Mendelian conditions MH Wojcik, CM Reuter, S Marwaha, M Mahmoud, MH Duyzend, ... The American Journal of Human Genetics 110 (8), 1229-1248, 2023 | 32 | 2023 |
Integrative single-cell analysis of cardiogenesis identifies developmental trajectories and non-coding mutations in congenital heart disease M Ameen, L Sundaram, M Shen, A Banerjee, S Kundu, S Nair, ... Cell 185 (26), 4937-4953. e23, 2022 | 29 | 2022 |
Deep convolutional neural networks for variant classification L Sundaram, F Kai-How, H Gao, SR PADIGEPATI, JF McRAE US Patent 11,315,016, 2022 | 19 | 2022 |
Identification of constrained sequence elements across 239 primate genomes LFK Kuderna, JC Ulirsch, S Rashid, M Ameen, L Sundaram, G Hickey, ... Nature 625 (7996), 735-742, 2024 | 10 | 2024 |
Stepwise generation of human induced pluripotent stem cell–derived cardiac pericytes to model coronary microvascular dysfunction M Shen, C Liu, SR Zhao, A Manhas, L Sundaram, M Ameen, JC Wu Circulation 147 (6), 515-518, 2023 | 10 | 2023 |
Deep Learning-Based Techniques for Training Deep Convolutional Neural Networks H Gao, F Kai-How, L Sundaram, JF McRAE US Patent App. 16/773,678, 2020 | 7 | 2020 |
Transcription factor stoichiometry, motif affinity and syntax regulate single-cell chromatin dynamics during fibroblast reprogramming to pluripotency S Nair, M Ameen, L Sundaram, A Pampari, J Schreiber, A Balsubramani, ... bioRxiv, 2023 | 5 | 2023 |
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods N Null, S Jain, C Bakolitsa, SE Brenner, P Radivojac, J Moult, S Repo, ... Genome Biology 25 (1), 1-46, 2024 | 3 | 2024 |
Critical assessment of genome interpretation consortium. CAGI, the critical assessment of genome interpretation, establishes progress and pprospects for computational genetic … S Jain, C Bakolitsa, EB Steven, P Radivojac, J Moult, S Repo, AH Roger, ... Genome Biology 22 (22; 25 (1): 53.), 1-46, 2024 | | 2024 |
Quality detection of variant calling using a machine learning classifier H Gao, H Tobias, JGJ McMaster-Schraiber, L Sundaram, F Kai-How US Patent App. 17/952,194, 2023 | | 2023 |
Variant calling without a target reference genome H Gao, H Tobias, JGJ McMaster-Schraiber, L Sundaram, F Kai-How US Patent App. 17/952,192, 2023 | | 2023 |
Unique mapper tool for excluding regions without one-to-one mapping between a set of two reference genomes H Gao, H Tobias, JGJ McMaster-Schraiber, L Sundaram, F Kai-How US Patent App. 17/952,198, 2023 | | 2023 |
Deep learning-based use of protein contact maps for variant pathogenicity prediction C Chen, H Gao, LS Sundaram, F Kai-How US Patent App. 17/876,501, 2023 | | 2023 |