Publications

2024
Nature Neuroscience
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes
Epi25 Collaborative (Siwei Chen, first author)


Siwei Chen*†, Laurent C Francioli*, Julia K Goodrich, Ryan L Collins, Masahiro Kanai, Qingbo Wang, Jessica Alföldi, Nicholas A Watts, Christopher Vittal, Laura D Gauthier, Timothy Poterba, Michael W Wilson, Yekaterina Tarasova, William Phu, Riley Grant, Mary T Yohannes, Zan Koenig, Yossi Farjoun, Eric Banks, Stacey Donnelly, Stacey Gabriel, Namrata Gupta, Steven Ferriera, Charlotte Tolonen, Sam Novod, Louis Bergelson, David Roazen, Valentin Ruano-Rubio, Miguel Covarrubias, Christopher Llanwarne, Nikelle Petrillo, Gordon Wade, Thibault Jeandet, Ruchi Munshi, Kathleen Tibbetts, Anne O’Donnell-Luria, Matthew Solomonson, Cotton Seed, Alicia R Martin, Michael E Talkowski, Heidi L Rehm, Mark J Daly, Grace Tiao, Benjamin M Neale, Daniel G MacArthur, Konrad J Karczewski†


2023
Nature Genetics
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture
International League Against Epilepsy Consortium on Complex Epilepsies (Chen S*, co-first author)


2022
Genome Research
A full-proteome, interaction-specific characterization of mutational hotspots across human cancers
Siwei Chen, Yuan Liu, Yingying Zhang, Shayne D Wierbowski, Steven M Lipkin, Xiaomu Wei, Haiyuan Yu


2020
Molecular Autism
De novo missense variants disrupting protein–protein interactions affect risk for autism through gene co-expression and protein networks in neuronal cell types
Siwei Chen*, Jiebiao Wang*, Ercument Cicek, Kathryn Roeder†, Haiyuan Yu†, Bernie Devlin†

2018
Nature Genetics
An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders
Siwei Chen*, Robert Fragoza*, Lambertus Klei, Yuan Liu, Jiebiao Wang, Kathryn Roeder†, Bernie Devlin†, Haiyuan Yu†
