He Li

发表

A Genocentric Approach to Discovery of Mendelian Disorders.

Michael M. Khayat, Michael F. Wangler, J. Rosenfeld, 2019, American journal of human genetics.

The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation

J. Lupski, R. Gibbs, D. Muzny, 2022, Genome Medicine.

Long read sequencing and expression studies of AHDC1 deletions in Xia‐Gibbs syndrome reveal a novel genetic regulatory mechanism

David R. Murdock, Michael M. Khayat, J. Lupski, 2022, Human mutation.

Centers for Mendelian Genomics: A decade of facilitating gene discovery

Jeffrey M. Weiss, Ryan L. Collins, Jack M. Fu, 2021, medRxiv.

AHDC1 missense mutations in Xia-Gibbs syndrome

Michael M. Khayat, Michael F. Wangler, J. Rosenfeld, 2021, HGG advances.

Exome variant discrepancies due to reference genome differences.

Michael M. Khayat, J. Lupski, R. Gibbs, 2021, American journal of human genetics.

A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly

J. Lupski, R. Gibbs, D. Muzny, 2023, American journal of medical genetics. Part A.

Identification of USP9X as a leukemia susceptibility gene

A. Sabo, H. Doddapaneni, S. Plon, 2023, Blood advances.

HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data

J. Lupski, S. Jhangiani, D. Calame, 2023, Nucleic acids research.

Germline Genetic Testing and Survival Outcomes Among Children With Rhabdomyosarcoma

A. Sabo, B. Crompton, J. Schiffman, 2024, JAMA network open.