Peining Li, PhD
Professor of GeneticsDownloadHi-Res Photo
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Appointments
Genetics
Primary
Additional Titles
Co-Director, Fellowship in Laboratory Genetics and Genomics
Director, Cytogenetics Lab
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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
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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
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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
Allen Bale, MD
Hongyan Chai
Katherine Wilcox
Yong-Hui Jiang, MD, PhD
Michele Spencer-Manzon, MD
86Publications
1,859Citations
Chromosome Aberrations
Publications
2025
Copy 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 ResearchMeSH Keywords and ConceptsConceptsWhole-genome sequencingChromosomal microarray analysisCopy number variantsGenome sequenceMicroarray analysisCausative genetic variantsDiagnostic valueClinical cytogenetics laboratoryPediatric casesConsecutive pediatric casesConsecutive pediatric patientsPathogenic CNVsGenetic variantsBenign CNVsGenetic counselorsClinical geneticistsRate of reclassificationLaboratory reevaluationCytogenetic laboratoriesPediatric patientsChromosomeClinical impactSequenceVariantsCopyA Concordance Study among 26 NGS Laboratories Participating in the NCI Molecular Analysis for Therapy Choice Clinical Trial.
Zane L, Yee L, Chang T, Sklar J, Yang G, 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 NCI Molecular Analysis for Therapy Choice Clinical Trial. Clinical Cancer Research 2025, 31: 3512-3525. PMID: 40465838, PMCID: PMC12284871, DOI: 10.1158/1078-0432.ccr-24-2188.Peer-Reviewed Original ResearchAltmetricConceptsVariant detectionVariant reportingEstimates of copy numberTarget enrichment methodLow-complexity regionsCentral laboratoryNational Cancer Institute-Molecular AnalysisNCI-MATCH trialVariant interpretationVariant classesCopy numberBioinformatics analysisCNV reporterNGS assayCLIA-certified laboratoryEnrichment methodNGSHybridization captureIndelsNCI-MATCHTumor profiling testsCell linesTherapy choiceClinical samplesSNVsP685: A single-center reevaluation and reanalysis of copy number variants of uncertain significance detected by chromosome microarray from consecutive pediatric patients
Li W, Chai H, Diadamo A, Dai Y, Li P, Spencer-Manzon M, Zhang H, Wen J. P685: A single-center reevaluation and reanalysis of copy number variants of uncertain significance detected by chromosome microarray from consecutive pediatric patients. Genetics In Medicine Open 2025, 3: 103054. DOI: 10.1016/j.gimo.2025.103054.Peer-Reviewed Original ResearchP842: The significant contribution of maternal effect genes for recurrent pregnancy loss: Preliminary results from the pedigree analysis
Rao N, DiMaio M, Giner-Calabuig M, Schepisi L, Harvey K, Monkol L, Zhang H, Zhao C, Hongyan C, Kaufman O, Hall I, Lake N, Hendry C, Diadamo A, Jia A, Tal R, Li P, Taylor H, Reddy U, Zhang H, Jiang Y. P842: The significant contribution of maternal effect genes for recurrent pregnancy loss: Preliminary results from the pedigree analysis. Genetics In Medicine Open 2025, 3: 103211. DOI: 10.1016/j.gimo.2025.103211.Peer-Reviewed Original Research
2024
Vascular endothelial cells derived from transgene-free pig induced pluripotent stem cells for vascular tissue engineering
Batty L, Park J, Qin L, Riaz M, Lin Y, Xu Z, Gao X, Li X, Lopez C, Zhang W, Hoareau M, Fallon M, Huang Y, Luo H, Luo J, Ménoret S, Li P, Jiang Z, Smith P, Sachs D, Tellides G, Anegon I, Pober J, Liu P, Qyang Y. Vascular endothelial cells derived from transgene-free pig induced pluripotent stem cells for vascular tissue engineering. Acta Biomaterialia 2024, 193: 171-184. PMID: 39681154, PMCID: PMC12212065, DOI: 10.1016/j.actbio.2024.12.033.Peer-Reviewed Original ResearchConceptsInduced pluripotent stem cellsVascular tissue engineeringPig induced pluripotent stem cellsPluripotent stem cellsEndothelial cellsLarge animal modelStem cellsAnimal modelsTissue engineeringInferior vena cava graftHuman induced pluripotent stem cellsEffective differentiation protocolsPreclinical large animal modelExpression of endothelial markersCell-based therapiesExtensive preclinical testingPig endothelial cellsFunctional endothelial cellsIn vivo functional studiesTreatment of cardiovascular diseasesVascular endothelial cellsTissue engineering therapiesTransplant therapeuticsEfficacy of tissueImmunodeficient ratsRing Chromosome 13
Li P, Chong M. Ring Chromosome 13. 2024, 201-214. DOI: 10.1007/978-3-031-47530-6_17.Peer-Reviewed Original ResearchCitationsConceptsChromosomal microarray analysisFluorescence in situ hybridizationGenomic imbalancesMaternal germline mosaicismRing chromosome 13Termination of pregnancyMother-to-daughter transmissionGenotype-phenotype correlationConsecutive pregnanciesHearing lossGermline mosaicismCraniofacial dysmorphismClinical featuresClinical manifestationsPrenatal diagnosisAdult casesChromosome 13Skeletal anomaliesGenetic counselingDevelopmental delayMicroarray analysisDelayed speechClinical geneticistsDynamic mosaicPatientsGenetic Databases and Online Ring Chromosome Registry
Hu Q, Ma D, Li P, Liehr T. Genetic Databases and Online Ring Chromosome Registry. 2024, 31-42. DOI: 10.1007/978-3-031-47530-6_3.Peer-Reviewed Original ResearchConceptsDatabase of Genomic VariantsRing chromosomesClinical Genome Resource (ClinGenDatabase of Chromosomal ImbalanceAtlas of GeneticsOnline Mendelian InheritanceGenome browserPatient advocate organizationsGenomic variantsEnsembl ResourcesClinical cytogeneticsGenomic technologiesSupernumerary markerChromosomal imbalancesMendelian inheritanceDiagnostic geneticsGenetic databasesChromosome databaseChromosomeGenetic testingGeneticsCytogeneticsDisease RegistryClinical findingsWeb resourcesRing Chromosome 9
Szekely A, Li P. Ring Chromosome 9. 2024, 159-169. DOI: 10.1007/978-3-031-47530-6_13.Peer-Reviewed Original ResearchConceptsRing chromosome 9Fluorescence in situ hybridizationChromosomal microarray analysisGenomic imbalancesStructural chromosomal abnormalitiesGene contentGenome sequenceChromosome 9Congenital heart defectsTermination of pregnancyOccurring de novoAdult male patientsMicroarray analysisDynamic mosaicGenetic counselingSevere growth retardationHeart defectsGenital anomaliesChromosomal abnormalitiesRespiratory complicationsMale patientsPrenatal diagnosisCardiac arrestGrowth retardationPatientsHistorical Perspective of Human Ring Chromosomes
Li P, Liehr T. Historical Perspective of Human Ring Chromosomes. 2024, 3-15. DOI: 10.1007/978-3-031-47530-6_1.Peer-Reviewed Original ResearchCitationsConceptsRing chromosomesCytogenomic analysisChromosomal structural abnormalitiesPatient advocate organizationsRisk of infertilityGenomic rearrangementsKaryotype evolutionChromosome-specificRelated phenotypesRC formationChromosome casesAffected patientsChromosomeClinical managementMolecular mechanismsRare typeStructural abnormalitiesLaboratory diagnosisClinical heterogeneityDynamic mosaicGenetic counselingMitotic behaviorSystematic evidence reviewOnline registryEvidence-based treatmentsCopy number variation of metallothionein 1 (MT1) associates with MT1X isoform expression and the overall survival of hepatocellular carcinoma patients in Guangxi
Xu P, Al-Anesi M, Huang M, Wu S, Ge Y, Chai H, Li P, Hu Q. Copy number variation of metallothionein 1 (MT1) associates with MT1X isoform expression and the overall survival of hepatocellular carcinoma patients in Guangxi. Gene Reports 2024, 34: 101889. DOI: 10.1016/j.genrep.2024.101889.Peer-Reviewed Original ResearchCitationsConceptsHepatocellular carcinoma patientsOverall survivalHepatocellular carcinoma diagnosisCopy number variationsHepatocellular carcinomaCancer tissuesDown-regulationMetallothionein-1Survival of hepatocellular carcinoma patientsEffects of copy number variationPredictors of OSOverall survival of hepatocellular carcinoma patientsMetallothionein-1 geneMetallothionein-1 proteinSimultaneous down-regulationCarcinoma patientsACGH analysisTumor-suppressive effectsNumber variationsIsoform expressionTranslational levelPatientsCancerResults of RT-qPCRGenes
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