Peining Li, PhD
Professor of GeneticsDownloadHi-Res Photo
Cards
Appointments
Genetics
Primary
Additional Titles
Co-Director, Fellowship in Laboratory Genetics and Genomics
Director, Cytogenetics Lab
Contact Info
Appointments
Genetics
Primary
Additional Titles
Co-Director, Fellowship in Laboratory Genetics and Genomics
Director, Cytogenetics Lab
Contact Info
Appointments
Genetics
Primary
Additional Titles
Co-Director, Fellowship in Laboratory Genetics and Genomics
Director, Cytogenetics Lab
Contact Info
About
Copy Link
Titles
Professor of Genetics
Co-Director, Fellowship in Laboratory Genetics and Genomics; Director, Cytogenetics Lab
Biography
The research activities in my laboratory focuses on the structural and functional characterization of human chromosome abnormalities. Molecular methods such as fluorescence in situ hybridization (FISH) mapping, microsatellite allelotyping, and next-generation sequencing have been used. We have performed high through-put chromosome-specific and genome-wide array-based analysis for mapping segmental deletions/duplication and sequencing rearrangement breakpoints. The goals are to identify disease-causing genes or bio-markers of diagnostic and prognostic values, and to dissect underlying molecular mechanisms.
Last Updated on April 07, 2025.
Appointments
Genetics
ProfessorPrimary
Other Departments & Organizations
Education & Training
- Postdoc Fellow, Clinical Cytogenetics
- Yale School of Medicine (2003)
- Postdoc Fellow, Clinical Molecular Genetics
- University of Alabama at Birmingham (1999)
- PhD
- University of Alabama at Birmingham (1996)
Research
Copy Link
Overview
Medical Research Interests
Chromosome Aberrations; Cytogenetics; Genetics
ORCID
0000-0003-4746-4905- View Lab Website
Cytogenetics
Research at a Glance
Yale Co-Authors
Frequent collaborators of Peining Li's published research.
Publications Timeline
A big-picture view of Peining Li's research output by year.
Research Interests
Research topics Peining Li is interested in exploring.
Jia Di Wen, MD, PhD, FACMG
Katherine Wilcox
Hongyan Chai
Yong-Hui Jiang, MD, PhD
Allen Bale, MD
Pei Hui, PhD, MD
87Publications
2,059Citations
Chromosome Aberrations
Publications
2026
Acquired ring chromosomes in hematological malignancies: A systematic evidence review for diagnostic advances, cytogenomic insights, and clinical significance by an International Consortium on Human Ring Chromosomes (ICHRC) working group
Zeineldin M, Murry J, Shetty D, Middlezong W, Parish R, Xiao Z, Cui C, Li P, Wen J, Tang G, Zou Y. Acquired ring chromosomes in hematological malignancies: A systematic evidence review for diagnostic advances, cytogenomic insights, and clinical significance by an International Consortium on Human Ring Chromosomes (ICHRC) working group. Cancer Genetics 2026, 306: 69-90. PMID: 42263477, DOI: 10.1016/j.cancergen.2026.05.009.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsSecond Prenatal Diagnosis of Bosch–Boonstra–Schaaf Optic Atrophy Syndrome in a Fetus With a 5q14.3q15 Deletion: A Case Report and Review of the Literature
Hao Y, Huang Q, Xu Y, Li X, Li P, Wu W, Wu B, Liu W. Second Prenatal Diagnosis of Bosch–Boonstra–Schaaf Optic Atrophy Syndrome in a Fetus With a 5q14.3q15 Deletion: A Case Report and Review of the Literature. Clinical Case Reports 2026, 14: e72581. PMID: 42016332, PMCID: PMC13092501, DOI: 10.1002/ccr3.72581.Peer-Reviewed Original ResearchGenotype–Phenotype Correlation Through Breakpoint Characterization of a Genomically Balanced Complex Chromosomal Rearrangement Using Long Read Sequencing
Sheth F, Shah J, Muranjan M, Liehr T, Padutsch N, Mane S, Ng S, Li P, Desai M, Kansara H, Sheth J, Sheth H. Genotype–Phenotype Correlation Through Breakpoint Characterization of a Genomically Balanced Complex Chromosomal Rearrangement Using Long Read Sequencing. American Journal Of Medical Genetics Part A 2026, 200: 1673-1681. PMID: 41755742, DOI: 10.1002/ajmg.a.70105.Peer-Reviewed Original ResearchConcomitant Chromosomal and Molecular Aberrations in Trisomy 8 Mosaicism and Associated Compound Phenotypes: Report of Three Cases and Review of Literature
Abdelhamed Z, Dykas D, DiAdamo A, Chai H, Ma D, Spencer-Mazon M, Jiang Y, Wen J, Bale A, Li P, Zhang H. Concomitant Chromosomal and Molecular Aberrations in Trisomy 8 Mosaicism and Associated Compound Phenotypes: Report of Three Cases and Review of Literature. Case Reports In Genetics 2026, 2026: 4494577. PMID: 41624216, PMCID: PMC12855162, DOI: 10.1155/crig/4494577.Peer-Reviewed Original Research
2025
Clinical significance of regions of homozygosity detection in prenatal chromosomal microarray analysis
Hao Y, Geng Q, Li X, Yang J, Liu Y, Huang Q, Xu Y, Li P, Xie J, Wu W, Wu B, Liu W. Clinical significance of regions of homozygosity detection in prenatal chromosomal microarray analysis. Human Genetics And Genomics Advances 2025, 7: 100549. PMID: 41267400, PMCID: PMC12903083, DOI: 10.1016/j.xhgg.2025.100549.Peer-Reviewed Original ResearchCitationsAltmetricUnravelling ring chromosome structures and formation mechanisms by short-read and long-read genomic sequencing
Chong M, Burssed B, Zhao C, Wen J, Ng E, Szewczyk B, Wang G, Chua K, Liehr T, Zou Y, Murry J, Sheth F, Li P, Melaragno M. Unravelling ring chromosome structures and formation mechanisms by short-read and long-read genomic sequencing. Genetics In Medicine Open 2025, 4: 103475. PMID: 42206203, PMCID: PMC13207348, DOI: 10.1016/j.gimo.2025.103475.Peer-Reviewed Original ResearchCitationsDecoding the genetic complexity in a pediatric case of B-ALL through long-read genomic sequencing and RNA sequencing
Chong M, Ng S, Chai H, Diadamo A, Flagg A, Owen N, Li P, Wen J. Decoding the genetic complexity in a pediatric case of B-ALL through long-read genomic sequencing and RNA sequencing. Cancer Genetics 2025, 298: 274-279. PMID: 41232304, PMCID: PMC12666982, DOI: 10.1016/j.cancergen.2025.11.002.Peer-Reviewed Original ResearchLoss of D expression associated with hematologic disease progression: a case report and review of the literature
Yurtsever N, Carmichael G, Li P, Di Wen J, Chai H, Diadamo A, Denomme G, Tormey C. Loss of D expression associated with hematologic disease progression: a case report and review of the literature. Immunohematology 2025, 41: 80-83. PMID: 41168989, DOI: 10.2478/immunohematology-2025-012.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsCopy Number Variants of Uncertain Significance by Chromosome Microarray Analysis from Consecutive Pediatric Patients: Reevaluation Following Current Guidelines and Reanalysis by Genome Sequencing
Li W, Xie X, Chai H, DiAdamo A, Bistline E, Li P, Dai Y, Knight J, Avni-Singer A, Burger J, Ment L, Spencer-Manzon M, Zhang H, Wen J. Copy Number Variants of Uncertain Significance by Chromosome Microarray Analysis from Consecutive Pediatric Patients: Reevaluation Following Current Guidelines and Reanalysis by Genome Sequencing. Genes 2025, 16: 874. PMID: 40869922, PMCID: PMC12385847, DOI: 10.3390/genes16080874.Peer-Reviewed Original ResearchCitationsA Concordance Study Among 26 NGS Laboratories Participating in the National Cancer Institute-Molecular Analysis for Therapy Choice (NCI-MATCH) Clinical Trial
Zane L, Yee L, Chang T, Sklar J, Yang G, Di Wen J, Li P, Harrington R, Sims D, Harper K, Trent J, LoBello J, Szelinger S, Benson K, Zeng J, Poorman K, Xu D, Frampton G, Pavlick D, Miller V, Tandon B, Swat W, Weiss L, Funari V, Conroy J, Prescott J, Chandra P, Ma C, Champion K, Baschkopf G, Fesko Y, Freitas T, Tomlins S, Hovelson D, White K, Sorrells S, Tell R, Beaubier N, King D, Li L, Kelly K, Uvalic J, Meyers B, Kolhe R, Lindeman N, Baltay M, Sholl L, Lopategui J, Vail E, Zhang W, Telatar M, Afkhami M, Hsiao S, Mansukhani M, Adams E, Jiang L, Aldape K, Raffeld M, Xi L, Stehr H, Segal J, Aisner D, Davies K, Brown N, Livingston R, Konnick E, Song W, Solomon J, Walther Z, McShane L, Harris L, Chen A, Tsongalis G, Hamilton S, Flaherty K, O’Dwyer P, Conley B, Patton D, Iafrate A, Williams P, Tricoli J, Karlovich C. A Concordance Study Among 26 NGS Laboratories Participating in the National Cancer Institute-Molecular Analysis for Therapy Choice (NCI-MATCH) Clinical Trial. Clinical Cancer Research 2025, 31: 3512-3525. PMID: 40465838, PMCID: PMC12284871, DOI: 10.1158/1078-0432.ccr-24-2188.Peer-Reviewed Original ResearchCitationsAltmetric
Get In Touch
Copy Link