2023
Integrated 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 ResearchConceptsTumor 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 ResearchConceptsGenomic disordersChromosome microarray analysisWilliams-Beuren syndromePathogenic copy number variantsPopulation genetic studiesWolf-Hirschhorn syndromeCopy number variantsDiGeorge syndromeMicroarray analysisMicroarray resultsChromosomal abnormalitiesGenetic studiesNumber variantsGenetic counseling
2021
A review of consensus statements, practice resources, standards and guidelines for clinical applications of next-generation sequencing technologies in the United States
Zhao C, Xie X, Ji W, Qi M, Zhou Q, Li M, Li P, Jiang Y, Zhang H. A review of consensus statements, practice resources, standards and guidelines for clinical applications of next-generation sequencing technologies in the United States. 中华医学遗传学杂志 2021, 38: 513-520. PMID: 34096016, DOI: 10.3760/cma.j.cn511374-20200924-00691.Peer-Reviewed Original ResearchExperience and lessons on guiding and governing clinical applications of chromosome microarray analysis in the United States
Xie X, Yu J, Qi Z, Bao L, Shen Y, Chen T, Li P. Experience and lessons on guiding and governing clinical applications of chromosome microarray analysis in the United States. 中华医学遗传学杂志 2021, 38: 419-424. PMID: 33974247, DOI: 10.3760/cma.j.cn511374-20200924-00690.Peer-Reviewed Original Research
2020
Exome sequencing analysis on products of conception: a cohort study to evaluate clinical utility and genetic etiology for pregnancy loss
Zhao C, Chai H, Zhou Q, Wen J, Reddy UM, Kastury R, Jiang Y, Mak W, Bale AE, Zhang H, Li P. Exome sequencing analysis on products of conception: a cohort study to evaluate clinical utility and genetic etiology for pregnancy loss. Genetics In Medicine 2020, 23: 435-442. PMID: 33100332, DOI: 10.1038/s41436-020-01008-6.Peer-Reviewed Original ResearchConceptsProducts of conceptionAbnormality detection rateLikely pathogenic variantsSpontaneous abortionPregnancy lossPathogenic variantsExome sequencingClinical utilityGenetic etiologyExome sequencing analysisPathogenic copy number variantsCohort studyFetal deathRenal diseaseMethodsA cohortSubsequent pregnancyCardiac anomaliesMonogenic etiologyMetabolic disordersRecurrence riskMultisystem abnormalitiesDiagnostic valueConclusionThese resultsMonogenic causesStillbirthRing chromosome formation by intra‐strand repairing of subtelomeric double stand breaks and clinico‐cytogenomic correlations for ring chromosome 9
Chai H, Ji W, Wen J, DiAdamo A, Grommisch B, Hu Q, Szekely AM, Li P. Ring chromosome formation by intra‐strand repairing of subtelomeric double stand breaks and clinico‐cytogenomic correlations for ring chromosome 9. American Journal Of Medical Genetics Part A 2020, 182: 3023-3028. PMID: 32978894, DOI: 10.1002/ajmg.a.61890.Peer-Reviewed Original ResearchDiagnostic cytogenetic testing following positive noninvasive prenatal screening results of sex chromosome abnormalities: Report of five cases and systematic review of evidence
Xie X, Tan W, Li F, Carrano E, Ramirez P, DiAdamo A, Grommisch B, Amato K, Chai H, Wen J, Li P. Diagnostic cytogenetic testing following positive noninvasive prenatal screening results of sex chromosome abnormalities: Report of five cases and systematic review of evidence. Molecular Genetics & Genomic Medicine 2020, 8: e1297. PMID: 32383339, PMCID: PMC7336728, DOI: 10.1002/mgg3.1297.Peer-Reviewed Original ResearchConceptsPositive predictive valueLarge case seriesNoninvasive prenatal screeningChromosomal microarray analysisCase seriesCytogenetic analysisMonosomy XPrenatal screening resultsPrenatal diagnosisMosaic patternSex chromosomal abnormalitiesEvidence-based approachReview of literaturePositive ratePrenatal genetic counselingSCA casesPredictive valueStructural abnormalitiesSystematic reviewCytogenetic testingPrenatal screeningSex chromosome abnormalitiesChromosomal abnormalitiesCase 2Case 1Molecular and clinicopathologic characterization of intravenous leiomyomatosis
Ordulu Z, Chai H, Peng G, McDonald AG, De Nictolis M, Garcia-Fernandez E, Hardisson D, Prat J, Li P, Hui P, Oliva E, Buza N. Molecular and clinicopathologic characterization of intravenous leiomyomatosis. Modern Pathology 2020, 33: 1844-1860. PMID: 32341498, PMCID: PMC7483566, DOI: 10.1038/s41379-020-0546-8.Peer-Reviewed Original ResearchConceptsIntravenous leiomyomatosisAggressive clinical behaviorClinical behaviorArray comparative genomic hybridizationCyclin D1Uterine smooth muscle tumorsSmooth muscle tumorsSmooth muscle proliferationRecurrent chromosome alterationsCommon genetic alterationsFH immunohistochemistryClinicopathologic characterizationImmunohistochemical findingsMesenchymal tumorsMuscle tumorsBenign appearanceMuscle proliferationUterine leiomyomaGroup 1Group 3Nonneoplastic tissuesIndex scoreVascular morphologyProtein expressionComparative genomic hybridizationPrinciples guiding the development of clinical practice guidelines for medical genetics and genomics specialty
Huang T, Li P. Principles guiding the development of clinical practice guidelines for medical genetics and genomics specialty. 中华医学遗传学杂志 2020, 37: 219-225. PMID: 32128736, DOI: 10.3760/cma.j.issn.1003-9406.2020.03.001.Peer-Reviewed Original Research
2019
Inverted duplication, triplication and quintuplication through sequential breakage‐fusion‐bridge events induced by a terminal deletion at 5p in a case of spontaneous abortion
Chai H, Grommisch B, DiAdamo A, Wen J, Hui P, Li P. Inverted duplication, triplication and quintuplication through sequential breakage‐fusion‐bridge events induced by a terminal deletion at 5p in a case of spontaneous abortion. Molecular Genetics & Genomic Medicine 2019, 7: e00965. PMID: 31478360, PMCID: PMC6785443, DOI: 10.1002/mgg3.965.Peer-Reviewed Original ResearchEfficient genome-wide first-generation phenotypic screening system in mice using the piggyBac transposon
Chang H, Pan Y, Landrette S, Ding S, Yang D, Liu L, Tian L, Chai H, Li P, Li DM, Xu T. Efficient genome-wide first-generation phenotypic screening system in mice using the piggyBac transposon. Proceedings Of The National Academy Of Sciences Of The United States Of America 2019, 116: 18507-18516. PMID: 31451639, PMCID: PMC6744845, DOI: 10.1073/pnas.1906354116.Peer-Reviewed Original ResearchConceptsPhenotypic screenParticular biological traitsLower model organismsPhenotypic screening systemModel organismsF1 screenMammalian biologyScreening systemBiological traitsMutant animalsGenetic basisDevelopmental defectsPiggyBac transposonFunction mutationsF1 progenySuch screensTransposonNew insertionsMutantsDisease pathogenesisMutationsUnbiased wayScreenUnprecedented opportunitySix1/41q21.1 Deletions and Duplications in 2 Siblings with Psychiatric Problems
Kaymakçalan H, Li P. 1q21.1 Deletions and Duplications in 2 Siblings with Psychiatric Problems. Indian Journal Of Pediatrics 2019, 86: 1068-1068. PMID: 31270733, DOI: 10.1007/s12098-019-03014-2.Peer-Reviewed Original Research
2017
Xp22.2 Chromosomal Duplication in Familial Intracranial Arachnoid Cyst
Furey CG, Timberlake AT, Nelson-Williams C, Duran D, Li P, Jackson EM, Kahle KT. Xp22.2 Chromosomal Duplication in Familial Intracranial Arachnoid Cyst. JAMA Neurology 2017, 74: 1503-1504. PMID: 29052703, PMCID: PMC5822190, DOI: 10.1001/jamaneurol.2017.3399.Peer-Reviewed Original ResearchPrenatal Diagnosis of Twin Fetuses with a Novel AR Gene Mutation in a Chinese Family of Complete Androgen Insensitivity Syndrome
Wu W, Geng Q, Liu Y, Xu Z, Li P, Xie J. Prenatal Diagnosis of Twin Fetuses with a Novel AR Gene Mutation in a Chinese Family of Complete Androgen Insensitivity Syndrome. Fetal And Pediatric Pathology 2017, 36: 432-436. PMID: 29206494, DOI: 10.1080/15513815.2017.1332120.Peer-Reviewed Original ResearchConceptsAndrogen insensitivity syndromeComplete androgen insensitivity syndromeAR gene mutationsInsensitivity syndromeGene mutationsTwin fetusesCases of AISPrenatal diagnosisSubsequent twin pregnancyNovel mutationsAndrogen receptor geneTwin pregnanciesRecessive genetic disorderBilateral testesSuccessful prenatal diagnosisFemale external genitaliaFetusesAR geneSyndromeSyndrome familiesDiagnosisExternal genitaliaReceptor geneGenetic disordersMutation analysisVascular smooth muscle cells derived from inbred swine induced pluripotent stem cells for vascular tissue engineering
Luo J, Qin L, Kural MH, Schwan J, Li X, Bartulos O, Cong XQ, Ren Y, Gui L, Li G, Ellis MW, Li P, Kotton DN, Dardik A, Pober JS, Tellides G, Rolle M, Campbell S, Hawley RJ, Sachs DH, Niklason LE, Qyang Y. Vascular smooth muscle cells derived from inbred swine induced pluripotent stem cells for vascular tissue engineering. Biomaterials 2017, 147: 116-132. PMID: 28942128, PMCID: PMC5638652, DOI: 10.1016/j.biomaterials.2017.09.019.Peer-Reviewed Original ResearchConceptsVascular smooth muscle cellsSmooth muscle cellsPluripotent stem cellsFunctional vascular smooth muscle cellsMassachusetts General Hospital miniature swineMuscle cellsSelf-assembly approachBiodegradable polyglycolic acid (PGA) scaffoldsPrimary vascular smooth muscle cellsSmooth muscle myosin heavy chainMuscle myosin heavy chainVascular tissue engineeringStem cellsTissue engineeringPolyglycolic acid scaffoldsReprogramming factorsVascular diseaseContractile functionVascular constructsImmunodeficient miceOrgan transplantsMiniature swinePreclinical investigationsGreat potentialMyosin heavy chainNovel homozygous FANCL mutation and somatic heterozygous SETBP1 mutation in a Chinese girl with Fanconi Anemia
Wu W, Liu Y, Zhou Q, Wang Q, Luo F, Xu Z, Geng Q, Li P, Zhang HZ, Xie J. Novel homozygous FANCL mutation and somatic heterozygous SETBP1 mutation in a Chinese girl with Fanconi Anemia. European Journal Of Medical Genetics 2017, 60: 369-373. PMID: 28419882, DOI: 10.1016/j.ejmg.2017.04.008.Peer-Reviewed Original ResearchConceptsFanconi anemiaCopy number lossNovel homozygous mutation c.Copy number aberrationsDifferent genesMutant variantsSomatic gene mutationsGenotype-phenotype correlationBone marrow failureGenesGain of 3qNumber lossSETBP1 geneNumber aberrationsMutationsHomozygous mutation c.Genotype correlationMarrow failureMutation analysisMutation c.Gene mutationsFANCLChromosomal abnormalitiesHeterogeneous disorderSETBP1 mutations
2016
FISH Panel for Leukemic CTCL
Weed J, Gibson J, Lewis J, Carlson K, Foss F, Choi J, Li P, Girardi M. FISH Panel for Leukemic CTCL. Journal Of Investigative Dermatology 2016, 137: 751-753. PMID: 27836797, PMCID: PMC5419071, DOI: 10.1016/j.jid.2016.10.037.Peer-Reviewed Original ResearchRecurrent genetic defects in classical Hodgkin lymphoma cell lines
Hudnall SD, Meng H, Lozovatsky L, Li P, Strout M, Kleinstein SH. Recurrent genetic defects in classical Hodgkin lymphoma cell lines. Leukemia & Lymphoma 2016, 57: 2890-2900. PMID: 27121023, DOI: 10.1080/10428194.2016.1177179.Peer-Reviewed Original ResearchConceptsMitosis-related genesSingle nucleotide variantsCHL cell linesCell linesRecurrent genetic defectsPathogenic single nucleotide variantsHL cell linesMitotic genesChromosome duplicationClassical Hodgkin lymphoma cell linesGenomic instabilityGenetic analysisWhole-exome sequencingNucleotide variantsGenesHodgkin's lymphoma cell linesLymphoma cell linesNumber variantsKaryotypic analysisGenetic defectsWealth of informationPoor growthVariantsDuplicationLinesSpectrum of Cytogenomic Abnormalities Revealed by Array Comparative Genomic Hybridization on Products of Conception Culture Failure and Normal Karyotype Samples
Zhou Q, Wu SY, Amato K, DiAdamo A, Li P. Spectrum of Cytogenomic Abnormalities Revealed by Array Comparative Genomic Hybridization on Products of Conception Culture Failure and Normal Karyotype Samples. Journal Of Genetics And Genomics 2016, 43: 121-131. PMID: 27020032, DOI: 10.1016/j.jgg.2016.02.002.Peer-Reviewed Original ResearchConceptsCopy number variantsIngenuity Pathway AnalysisPathogenic copy number variantsDosage-sensitive genesCell proliferation pathwaysGenomic copy number variantsArray comparative genomic hybridizationGene networksComparative genomic hybridization analysisComparative genomic hybridizationPathway analysisGenomic hybridization analysisChromosomal abnormalitiesHybridization analysisProliferation pathwaysArray comparative genomic hybridization analysisNumber variantsGenomic hybridizationSitu hybridizationGenesHybridizationCytogenomic abnormalitiesCulture successPolyploidySensitive mechanism
2015
Changes in and Efficacies of Indications for Invasive Prenatal Diagnosis of Cytogenomic Abnormalities: 13 Years of Experience in a Single Center
Meng J, Matarese C, Crivello J, Wilcox K, Wang D, DiAdamo A, Xu F, Li P. Changes in and Efficacies of Indications for Invasive Prenatal Diagnosis of Cytogenomic Abnormalities: 13 Years of Experience in a Single Center. Medical Science Monitor 2015, 21: 1942-1948. PMID: 26143093, PMCID: PMC4497468, DOI: 10.12659/msm.893870.Peer-Reviewed Original Research