He Li
6PUBLICATIONS
38CO-AUTHORS
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Publications (6)
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|Dec 28, 2023
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data.Haowei Du, Zain Dardas, Angad Jolly
|Sep 02, 2022
Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanism.Varuna Chander, Medhat Mahmoud, Jianhong Hu
|Mar 01, 2021
Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome.Michael M Khayat, He Li, Varuna Chander
|Dec 29, 2020
Germline Cancer Predisposition Variants in Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology Group.He Li, Saumya D Sisoudiya, Bailey A Martin-Giacalone
|Oct 02, 2019
Allele-specific NKX2-5 binding underlies multiple genetic associations with human electrocardiographic traits.Paola Benaglio, Agnieszka D'Antonio-Chronowska, Wubin Ma
|Oct 28, 2017
Efficient Prioritization of Multiple Causal eQTL Variants via Sparse Polygenic Modeling.Naoki Nariai, William W Greenwald, Christopher DeBoever
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Frequent Collaborators
3 joint publications
Jennifer E Posey
3 joint publications
Michael M Khayat
3 joint publications
James R Lupski
3 joint publications
Aniko Sabo
2 joint publications
Zain Dardas
2 joint publications
Kelly A Frazer
2 joint publications
Christopher M Grochowski
1 joint publications
Tomasz Gambin
1 joint publications
Matteo D'Antonio
1 joint publications
Michael G Rosenfeld
