2023
Estimation 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 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 causesStillbirthDiagnostic 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 hybridization
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 analysisNovel 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
Spectrum 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
2014
Recurrent chromosomal aberrations in intravenous leiomyomatosis of the uterus: high-resolution array comparative genomic hybridization study
Buza N, Xu F, Wu W, Carr RJ, Li P, Hui P. Recurrent chromosomal aberrations in intravenous leiomyomatosis of the uterus: high-resolution array comparative genomic hybridization study. Human Pathology 2014, 45: 1885-1892. PMID: 25033729, DOI: 10.1016/j.humpath.2014.05.010.Peer-Reviewed Original ResearchConceptsOligonucleotide array comparative genomic hybridizationArray comparative genomic hybridizationComparative genomic hybridizationGenome-wide investigationGenomic hybridizationChromosome 22qCopy number lossGene mappingChromosomal aberrationsComparative genomic hybridization studySuccinate dehydrogenase subunit BGenetic instabilityRecurrent chromosomal aberrationsRegions of lossSequencing analysisChromosome 12qNumber lossNumber variantsSubunit BChromosomal alterationsHybridization studiesSevere nondominant hereditary spherocytosis due to uniparental isodisomy at the SPTA1 locus
Bogardus H, Schulz VP, Maksimova Y, Miller BA, Li P, Forget BG, Gallagher PG. Severe nondominant hereditary spherocytosis due to uniparental isodisomy at the SPTA1 locus. Haematologica 2014, 99: e168-e170. PMID: 24895341, PMCID: PMC4562552, DOI: 10.3324/haematol.2014.110312.Peer-Reviewed Original ResearchAn international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, McCallie Jr D, Szolovits P, Willard HF, Mendelsohn NJ, Temme R, Finkel RS, Yum SW, Medne L, Sunyaev SR, Adzhubey I, Cassa CA, de Bakker P, Duzkale H, Dworzyński P, Fairbrother W, Francioli L, Funke BH, Giovanni MA, Handsaker RE, Lage K, Lebo MS, Lek M, Leshchiner I, MacArthur DG, McLaughlin HM, Murray MF, Pers TH, Polak PP, Raychaudhuri S, Rehm HL, Soemedi R, Stitziel NO, Vestecka S, Supper J, Gugenmus C, Klocke B, Hahn A, Schubach M, Menzel M, Biskup S, Freisinger P, Deng M, Braun M, Perner S, Smith R, Andorf JL, Huang J, Ryckman K, Sheffield VC, Stone EM, Bair T, Black-Ziegelbein EA, Braun TA, Darbro B, DeLuca AP, Kolbe DL, Scheetz TE, Shearer AE, Sompallae R, Wang K, Bassuk AG, Edens E, Mathews K, Moore SA, Shchelochkov OA, Trapane P, Bossler A, Campbell CA, Heusel JW, Kwitek A, Maga T, Panzer K, Wassink T, Van Daele D, Azaiez H, Booth K, Meyer N, Segal MM, Williams MS, Tromp G, White P, Corsmeier D, Fitzgerald-Butt S, Herman G, Lamb-Thrush D, McBride KL, Newsom D, Pierson CR, Rakowsky AT, Maver A, Lovrečić L, Palandačić A, Peterlin B, Torkamani A, Wedell A, Huss M, Alexeyenko A, Lindvall JM, Magnusson M, Nilsson D, Stranneheim H, Taylan F, Gilissen C, Hoischen A, van Bon B, Yntema H, Nelen M, Zhang W, Sager J, Zhang L, Blair K, Kural D, Cariaso M, Lennon GG, Javed A, Agrawal S, Ng PC, Sandhu KS, Krishna S, Veeramachaneni V, Isakov O, Halperin E, Friedman E, Shomron N, Glusman G, Roach JC, Caballero J, Cox HC, Mauldin D, Ament SA, Rowen L, Richards DR, Lucas F, Gonzalez-Garay ML, Caskey CT, Bai Y, Huang Y, Fang F, Zhang Y, Wang Z, Barrera J, Garcia-Lobo JM, González-Lamuño D, Llorca J, Rodriguez MC, Varela I, Reese MG, De La Vega FM, Kiruluta E, Cargill M, Hart RK, Sorenson JM, Lyon GJ, Stevenson DA, Bray BE, Moore BM, Eilbeck K, Yandell M, Zhao H, Hou L, Chen X, Yan X, Chen M, Li C, Yang C, Gunel M, Li P, Kong Y, Alexander AC, Albertyn ZI, Boycott KM, Bulman DE, Gordon P, Innes AM, Knoppers BM, Majewski J, Marshall CR, Parboosingh JS, Sawyer SL, Samuels ME, Schwartzentruber J, Kohane IS, Margulies DM. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biology 2014, 15: r53. PMID: 24667040, PMCID: PMC4073084, DOI: 10.1186/gb-2014-15-3-r53.Peer-Reviewed Original Research
2012
Technology-Driven and Evidence-Based Genomic Analysis for Integrated Pediatric and Prenatal Genetics Evaluation
Wei Y, Xu F, Li P. Technology-Driven and Evidence-Based Genomic Analysis for Integrated Pediatric and Prenatal Genetics Evaluation. Journal Of Genetics And Genomics 2012, 40: 1-14. PMID: 23357340, DOI: 10.1016/j.jgg.2012.12.004.Peer-Reviewed Original ResearchConceptsMultiple congenital anomaliesArray comparative genomic hybridizationEvidence-based practice guidelinesPatient-control studyPrenatal genetic evaluationAutistic spectrum disorderRational therapeutic interventionsNormal cytogenetic findingsMulti-centre comparisonImmediate clinical applicationPediatric patientsCase seriesPediatric experienceCongenital anomaliesPractice guidelinesDiagnostic yieldClinical validityTherapeutic interventionsCytogenetic findingsAbnormalitiesComparative genomic hybridizationDisease-causing mechanismsIntellectual disabilityStructural anomalies
2011
A de novo 3.54 Mb deletion of 17q22‐q23.1 associated with hydrocephalus: A case report and review of literature
Khattab M, Xu F, Li P, Bhandari V. A de novo 3.54 Mb deletion of 17q22‐q23.1 associated with hydrocephalus: A case report and review of literature. American Journal Of Medical Genetics Part A 2011, 155: 3082-3086. PMID: 22052796, DOI: 10.1002/ajmg.a.34307.Peer-Reviewed Original ResearchGenomic characterization of prenatally detected chromosomal structural abnormalities using oligonucleotide array comparative genomic hybridization
Li P, Pomianowski P, DiMaio MS, Florio JR, Rossi MR, Xiang B, Xu F, Yang H, Geng Q, Xie J, Mahoney MJ. Genomic characterization of prenatally detected chromosomal structural abnormalities using oligonucleotide array comparative genomic hybridization. American Journal Of Medical Genetics Part A 2011, 155: 1605-1615. PMID: 21671377, PMCID: PMC3745591, DOI: 10.1002/ajmg.a.34043.Peer-Reviewed Original ResearchBi‐allelic deletions within 13q14 and transient trisomy 21 with absence of GATA1s in pediatric acute megakaryoblastic leukemia
Massaro SA, Bajaj R, Pashankar FD, Ornstein D, Gallagher PG, Krause DS, Li P. Bi‐allelic deletions within 13q14 and transient trisomy 21 with absence of GATA1s in pediatric acute megakaryoblastic leukemia. Pediatric Blood & Cancer 2011, 57: 516-519. PMID: 21538823, PMCID: PMC4517576, DOI: 10.1002/pbc.23156.Peer-Reviewed Original Research