He Li

ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 10

Top Venues

Nucleic acids research

Human mutation

Journal of the National Cancer Institute

Nature genetics

University of California San Diego

University of Oklahoma College of Medicine (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

University of California San Diego

United States

Postdoctoral Scholar :: Institute for Genomic Medicine

Education History

University of Oklahoma College of Medicine

United States

PHD :: Pathology

Jilin University

China

MSC :: Molecular Biology

Jilin University

China

BSC :: Biotechnology

Publications

Haowei Du, Zain Dardas, Angad Jolly, Christopher M Grochowski, Shalini N Jhangiani, He Li, Donna Muzny, Jawid M Fatih, Gozde Yesil, Nursel H Elçioglu, Alper Gezdirici, Dana Marafi, Davut Pehlivan, Daniel G Calame, Cláudia M B Carvalho, Jennifer E Posey, Tomasz Gambin, Zeynep Coban-Akdemir, James R. Lupski
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data. Nucleic acids research 52 (4) (2024)
Haowei Du, Zain Dardas, Angad Jolly, Christopher M Grochowski, Shalini N Jhangiani, He Li, Donna Muzny, Jawid M Fatih, Gozde Yesil, Nursel H Elçioglu, Alper Gezdirici, Dana Marafi, Davut Pehlivan, Daniel G Calame, Cláudia M B Carvalho, Jennifer E Posey, Tomasz Gambin, Zeynep Coban-Akdemir, James R. Lupski
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data. Nucleic acids research 52 (4) (2024)
Haowei Du, Zain Dardas, Angad Jolly, Christopher M Grochowski, Shalini N Jhangiani, He Li, Donna Muzny, Jawid M Fatih, Gozde Yesil, Nursel H Elçioglu, Alper Gezdirici, Dana Marafi, Davut Pehlivan, Daniel G Calame, Cláudia M B Carvalho, Jennifer E Posey, Tomasz Gambin, Zeynep Coban-Akdemir, James R. Lupski
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data. Nucleic acids research (2023)
Haowei Du, Zain Dardas, Angad Jolly, Christopher M Grochowski, Shalini N Jhangiani, He Li, Donna Muzny, Jawid M Fatih, Gozde Yesil, Nursel H Elçioglu, Alper Gezdirici, Dana Marafi, Davut Pehlivan, Daniel G Calame, Cláudia M B Carvalho, Jennifer E Posey, Tomasz Gambin, Zeynep Coban-Akdemir, James R. Lupski
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data. Nucleic acids research (2023)
Haowei Du, Zain Dardas, Angad Jolly, Christopher M Grochowski, Shalini N Jhangiani, He Li, Donna Muzny, Jawid M Fatih, Gozde Yesil, Nursel H Elçioglu, Alper Gezdirici, Dana Marafi, Davut Pehlivan, Daniel G Calame, Cláudia M B Carvalho, Jennifer E Posey, Tomasz Gambin, Zeynep Coban-Akdemir, James R. Lupski
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data. Nucleic acids research (2023)
Varuna Chander, Medhat Mahmoud, Jianhong Hu, Zain Dardas, Christopher M Grochowski, Moez Dawood, Michael M Khayat, He Li, Shoudong Li, Shalini N. Jhangiani, Viktoriya Korchina, Hua Shen, George Weissenberger, Qingchang Meng, Marie-Claude Gingras, Donna M Muzny, Harsha Vardhan Doddapaneni, Jennifer E Posey, James R. Lupski, Aniko Sabo, David R Murdock, Fritz J Sedlazeck, Richard A Gibbs
Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanism. Human mutation (2022)
He Li, Saumya Dushyant Sisoudiya, Bailey A Martin-Giacalone, Michael M Khayat, Shannon Dugan, Deborah A Marquez-Do, Michael E Scheurer, Donna Muzny, Eric Boerwinkle, Richard A Gibbs, Yueh-Yun Chi, Donald A Barkauskas, Tammy Lo, David C Hall, Douglas R Stewart, Joshua D Schiffman, Stephen X Skapek, Douglas S Hawkins, Sharon E Plon, Aniko Sabo, Philip J Lupo
Germline Cancer Predisposition Variants in Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology Group. Journal of the National Cancer Institute 113 (7) (2022)
Michael M Khayat, He Li, Varuna Chander, Jianhong Hu, Adam W Hansen, Shoudong Li, Josh Traynelis, Hua Shen, George Weissenberger, Fabio Stossi, Hannah L Johnson, James R. Lupski, Jennifer E Posey, Aniko Sabo, Qingchang Meng, David R Murdock, Michael Wangler, Richard A Gibbs
Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome. Human mutation 42 (5) (2021)
Paola Benaglio, Agnieszka D'Antonio-Chronowska, Wubin Ma, Feng Yang, William W Young Greenwald, Margaret K R Donovan, Christopher DeBoever, He Li, Frauke Drees, Sanghamitra Singhal, Hiroko Matsui, Jessica van Setten, Nona Sotoodehnia, Kyle J Gaulton, Erin N Smith, Matteo D'Antonio, Michael G Rosenfeld, Kelly A Frazer
Allele-specific NKX2-5 binding underlies multiple genetic associations with human electrocardiographic traits. Nature genetics 51 (10) (2019)
Naoki Nariai, William W Greenwald, Christopher DeBoever, He Li, Kelly A Frazer
Efficient Prioritization of Multiple Causal eQTL Variants via Sparse Polygenic Modeling. Genetics 207 (4) (2017)

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Publication Activity (10 Years)

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He Li