| A genomic mutational constraint map using variation in 76,156 human genomes S Chen, LC Francioli, JK Goodrich, RL Collins, M Kanai, Q Wang, J Alföldi, ... Nature 625 (7993), 92-100, 2024 | 696* | 2024 |
| Germline Lysine-Specific Demethylase 1 (LSD1/KDM1A) Mutations Confer Susceptibility to Multiple Myeloma X Wei, MN Calvo-Vidal, S Chen, G Wu, MV Revuelta, J Sun, J Zhang, ... Cancer research 78 (10), 2747-2759, 2018 | 86 | 2018 |
| An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders S Chen, R Fragoza, L Klei, Y Liu, J Wang, K Roeder, B Devlin, H Yu Nature genetics 50 (7), 1032-1040, 2018 | 80 | 2018 |
| BraInMap elucidates the macromolecular connectivity landscape of mammalian brain R Pourhaghighi, PEA Ash, S Phanse, F Goebels, LZM Hu, S Chen, ... Cell systems 10 (4), 333-350. e14, 2020 | 70 | 2020 |
| A harmonized public resource of deeply sequenced diverse human genomes Z Koenig, MT Yohannes, LL Nkambule, X Zhao, JK Goodrich, HA Kim, ... Genome Research, 2024 | 55 | 2024 |
| GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture R Stevelink*, C Campbell*, S Chen*, International League Against Epilepsy ... Nature genetics 55 (9), 1471-1482, 2023 | 49* | 2023 |
| Exome sequencing identifies germline variants in DIS3 in familial multiple myeloma M Pertesi, M Vallée, X Wei, MV Revuelta, P Galia, D Demangel, J Oliver, ... Leukemia 33 (9), 2324-2330, 2019 | 47 | 2019 |
| 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 | 29 | 2023 |
| The role of common genetic variation in presumed monogenic epilepsies C Campbell, C Leu, YCA Feng, S Wolking, C Moreau, C Ellis, S Ganesan, ... EBioMedicine 81, 2022 | 28 | 2022 |
| De novo missense variants disrupting protein–protein interactions affect risk for autism through gene co-expression and protein networks in neuronal cell types S Chen, J Wang, E Cicek, K Roeder, H Yu, B Devlin Molecular autism 11, 1-16, 2020 | 27 | 2020 |
| Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes S Chen, BM Neale, SF Berkovic, Epi25 Collaborative Nature Neuroscience 27 (10), 1864-1879, 2024 | 17* | 2024 |
| Inferring compound heterozygosity from large-scale exome sequencing data MH Guo, LC Francioli, SL Stenton, JK Goodrich, NA Watts, M Singer-Berk, ... Nature genetics 56 (1), 152-161, 2024 | 15 | 2024 |
| A full-proteome, interaction-specific characterization of mutational hotspots across human cancers S Chen, Y Liu, Y Zhang, SD Wierbowski, SM Lipkin, X Wei, H Yu Genome Research 32 (1), 135-149, 2022 | 4 | 2022 |
| The role of rare genetic variants enrichment in epilepsies of presumed genetic etiology L Bundalian, YY Su, S Chen, A Velluva, AS Kirstein, A Garten, S Biskup, ... medRxiv, 2023 | 2 | 2023 |
| The landscape of regional missense mutational intolerance quantified from 125,748 exomes KR Chao, L Wang, R Panchal, C Liao, H Abderrazzaq, R Ye, P Schultz, ... bioRxiv, 2024 | 1 | 2024 |
| GeMSTONE: orchestrated prioritization of human germline mutations in the cloud S Chen, JF Beltrán, C Esteban-Jurado, S Franch-Exposito, S Castellví-Bel, ... Nucleic Acids Research 45 (W1), W207-W214, 2017 | 1 | 2017 |
| Effect heterogeneity reveals complex pleiotropic effects of rare coding variants W Lu, S Chen, D Posthuma, BM Neale, LJ O’Connor, KJ Karczewski bioRxiv, 2024.10. 01.614806, 2024 | | 2024 |
| O43: Analysis of> 800,000 diverse sequenced humans in gnomAD improves clinical interpretation and provides insight into gene function H Rehm, J Goodrich, K Chao, K Laricchia, M Wilson, J Fu, G Tiao, Q He, ... Genetics in Medicine Open 2, 2024 | | 2024 |
Haiyuan YuProfessor, Cornell UniversityVerified email at cornell.edu
