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Siwei Chen
Siwei Chen
Broad Institute, Massachusetts General Hospital, Harvard Medical School
在 broadinstitute.org 的电子邮件经过验证
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引用次数
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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
433*2024
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
752018
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
752018
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
642020
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
422019
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
312024
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
262020
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture
Nature genetics 55 (9), 1471-1482, 2023
202023
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
202022
Shared and distinct ultra-rare genetic risk for diverse epilepsies: A whole-exome sequencing study of 54,423 individuals across multiple genetic ancestries
E Collaborative, S Chen, BM Neale, SF Berkovic
medRxiv, 2023
122023
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
62024
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
32022
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, 2024.04. 11.588920, 2024
12024
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
12023
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
12017
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
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