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
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.
Appointments
Genetics
ProfessorPrimary
Other Departments & Organizations
- Cytogenetics Laboratory
- Genetics
- Genomics, Genetics, and Epigenetics
- Yale Center for Genomic Health
- Yale Ventures
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
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
Katherine Wilcox
Yong-Hui Jiang, MD, PhD
Pei Hui, PhD, MD
Hongyan Chai
81Publications
1,664Citations
Chromosome Aberrations
Publications
2024
Ring Chromosome 13
Li P, Chong M. Ring Chromosome 13. 2024, 201-214. DOI: 10.1007/978-3-031-47530-6_17.Peer-Reviewed Original ResearchConceptsChromosomal 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 ResearchConceptsRing 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 ResearchConceptsHepatocellular 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-qPCRGenesP602: Genetic modifiers as a basis for phenotypic variability in mosaic trisomy 8
Abdelhamed Z, Dykas D, DiAdamo A, Wen J, Zhang H, Spencer-Manzon M, Li P, Jiang Y, Bale A. P602: Genetic modifiers as a basis for phenotypic variability in mosaic trisomy 8. Genetics In Medicine Open 2024, 2: 101508. DOI: 10.1016/j.gimo.2024.101508.Peer-Reviewed Original ResearchPatterns of Cytogenomic Findings from a Case Series of Recurrent Pregnancy Loss Provide Insight into the Extent of Genetic Defects Causing Miscarriages
DiAdamo A, Chai H, Chong M, Wang G, Wen J, Jiang Y, Li P. Patterns of Cytogenomic Findings from a Case Series of Recurrent Pregnancy Loss Provide Insight into the Extent of Genetic Defects Causing Miscarriages. Global Medical Genetics 2024, 11: 123-131. PMID: 38560483, PMCID: PMC10980555, DOI: 10.1055/s-0044-1785227.Peer-Reviewed Original ResearchConceptsRecurrent pregnancy lossProducts of conceptionAbnormal karyotypeConsecutive miscarriagesCase seriesCytogenomic abnormalitiesCA groupCytogenomic findingsRoutine cytogenetic analysisCopy number variantsMonosomy XNormal karyotypeRetrospective studyPregnancy lossCytogenetic analysisPathogenic variantsMiscarriageSA groupAneuploidyKaryotypeLethal variantWomenAbnormalitiesGenome sequenceAbstract Background
2023
71. Integrated genomic analysis of hepatocellular carcinoma using WES and aCGH
Chong M, Chai H, Hu Q, Li P. 71. Integrated genomic analysis of hepatocellular carcinoma using WES and aCGH. Cancer Genetics 2023, 278: 22. DOI: 10.1016/j.cancergen.2023.08.079.Peer-Reviewed Original ResearchConceptsWhole-exome sequencingTumor mutation burdenHepatocellular carcinomaGrade IIICNA burdenCase seriesClinicopathologic associationsArray comparative genomic hybridizationBarcelona Clinic Liver Cancer stageCopy number alterationsBCLC stage CLiver Cancer stageEdmondson-Steiner gradingLarge case seriesGenetic defectsHigher CNA burdenAdjacent nontumor tissuesΒ-catenin pathwayIntegrated genomic analysisBetter prognosisClinicopathologic findingsPoor prognosisRetrospective studyClinicopathologic classificationCancer stageIntegrated exome sequencing and microarray analyses detected genetic defects and underlying pathways of hepatocellular carcinoma
Chong M, Knight J, Peng G, Ji W, Chai H, Lu Y, Wu S, Li P, Hu Q. Integrated exome sequencing and microarray analyses detected genetic defects and underlying pathways of hepatocellular carcinoma. Cancer Genetics 2023, 276: 30-35. PMID: 37418972, DOI: 10.1016/j.cancergen.2023.06.002.Peer-Reviewed Original ResearchCitationsMeSH Keywords and ConceptsConceptsTumor mutation burdenWhole-exome sequencingGrade IIIHepatocellular carcinomaCNA burdenCase seriesBarcelona Clinic Liver Cancer stageExome sequencingBCLC stage CLiver Cancer stageEdmondson-Steiner gradingLarge case seriesGenetic defectsHigher CNA burdenAdjacent nontumor tissuesΒ-catenin pathwayBetter prognosisClinicopathologic findingsPoor prognosisClinicopathologic classificationCancer stageSurvival statusMutation burdenStage CPrognostic predictionEstimation on risk of spontaneous abortions by genomic disorders from a meta‐analysis of microarray results on large case series of pregnancy losses
Peng G, Zhou Q, Chai H, Wen J, Zhao H, Taylor H, Jiang Y, Li P. Estimation on risk of spontaneous abortions by genomic disorders from a meta‐analysis of microarray results on large case series of pregnancy losses. Molecular Genetics & Genomic Medicine 2023, 11: e2181. PMID: 37013615, PMCID: PMC10422064, DOI: 10.1002/mgg3.2181.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsGenomic disordersChromosome microarray analysisWilliams-Beuren syndromePathogenic copy number variantsPopulation genetic studiesWolf-Hirschhorn syndromeCopy number variantsDiGeorge syndromeMicroarray analysisMicroarray resultsChromosomal abnormalitiesGenetic studiesNumber variantsGenetic counseling