2020
Ring 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 Research
2019
Efficient 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 chain
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
2014
Severe 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
2013
Absence of aneuploidy and gastrointestinal tumours in a man with a chromosomal 2q13 deletion and BUB1 monoallelic deficiency
Hoang D, Sue GR, Xu F, Li P, Narayan D. Absence of aneuploidy and gastrointestinal tumours in a man with a chromosomal 2q13 deletion and BUB1 monoallelic deficiency. BMJ Case Reports 2013, 2013: bcr2013008684. PMID: 23440991, PMCID: PMC3604111, DOI: 10.1136/bcr-2013-008684.Peer-Reviewed Original ResearchMeSH KeywordsAllelesAneuploidyCell Transformation, NeoplasticChromosomal InstabilityChromosome DeletionChromosome SegregationChromosomes, Human, Pair 2DNA, NeoplasmFollow-Up StudiesGastrointestinal NeoplasmsHumansMaleMiddle AgedMutationProtein Serine-Threonine KinasesReal-Time Polymerase Chain Reaction
2011
Genomic 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 Research
2010
A Highly Sensitive, High-Throughput Assay for the Detection of Turner Syndrome
Rivkees SA, Hager K, Hosono S, Wise A, Li P, Rinder HM, Gruen JR. A Highly Sensitive, High-Throughput Assay for the Detection of Turner Syndrome. The Journal Of Clinical Endocrinology & Metabolism 2010, 96: 699-705. PMID: 21177792, PMCID: PMC3047225, DOI: 10.1210/jc.2010-1554.Peer-Reviewed Original ResearchConceptsX chromosomeInformative single nucleotide polymorphism (SNP) markersSingle nucleotide polymorphism (SNP) markersHigh-throughput assaysPolymorphism markersSingle nucleotide polymorphismsY chromosome materialRAS valuesBuccal swab DNAX chromosome abnormalitiesHigh-throughput testChromosomal mosaicismTurner syndromeDNAMarkersFemalesTS benefitSpecificityT detectionKaryotypeHomozygosityPolymorphismMosaicismAssaysLarge-scale studies
2009
Clinical and genomic characterization of distal duplications and deletions of chromosome 4q: Study of two cases and review of the literature
Rossi MR, DiMaio MS, Xiang B, Lu K, Kaymakcalan H, Seashore M, Mahoney MJ, Li P. Clinical and genomic characterization of distal duplications and deletions of chromosome 4q: Study of two cases and review of the literature. American Journal Of Medical Genetics Part A 2009, 149A: 2788-2794. PMID: 19921640, PMCID: PMC2788106, DOI: 10.1002/ajmg.a.33088.Peer-Reviewed Original ResearchConceptsPierre Robin sequenceRobin sequenceVariable clinical presentationFurther genotype-phenotype correlationsMb deletionGenotype-phenotype correlationSecond patientClinical presentationCardiac anomaliesNewborn periodArray comparative genomic hybridization analysisComparative genomic hybridization analysisCardiac abnormalitiesPaternal genetic factorsGenomic hybridization analysisFamilial variantPatientsPregnant femalesGenetic factorsDistal duplicationVariable expressionVariable expressivityDistal long armGenomic findingsDisability
2008
Congenital fibrosarcoma with a novel complex 3-way translocation t(12;15;19) and unusual histologic features
Mariño-Enríquez A, Li P, Samuelson J, Rossi MR, Reyes-Múgica M. Congenital fibrosarcoma with a novel complex 3-way translocation t(12;15;19) and unusual histologic features. Human Pathology 2008, 39: 1844-1848. PMID: 18657299, DOI: 10.1016/j.humpath.2008.04.013.Peer-Reviewed Original ResearchMeSH KeywordsBiomarkers, TumorChromosomes, Human, Pair 12Chromosomes, Human, Pair 15Chromosomes, Human, Pair 19Combined Modality TherapyFibrosarcomaGene RearrangementHumansInfantMaleProto-Oncogene Proteins c-etsReceptor, trkCRepressor ProteinsRetroperitoneal NeoplasmsTomography, X-Ray ComputedTranslocation, GeneticTreatment OutcomeConceptsCongenital fibrosarcomaInflammatory myofibroblastic tumorUnusual histologic featuresGenotype/phenotype correlationGenotype-phenotype correlationMyofibroblastic tumorHistologic featuresMesenchymal tumorsTherapeutic armamentariumIntermediate malignancyTrisomy 8TumorsFibrosarcomaRefined diagnosisDiagnosisUltrastructural featuresMolecular diagnosisPhenotype correlationNovel findingsFusion signalCytogenetic analysisAnalytical and clinical validity of whole‐genome oligonucleotide array comparative genomic hybridization for pediatric patients with mental retardation and developmental delay
Xiang B, Li A, Valentin D, Nowak NJ, Zhao H, Li P. Analytical and clinical validity of whole‐genome oligonucleotide array comparative genomic hybridization for pediatric patients with mental retardation and developmental delay. American Journal Of Medical Genetics Part A 2008, 146A: 1942-1954. PMID: 18627053, DOI: 10.1002/ajmg.a.32411.Peer-Reviewed Original ResearchMeSH KeywordsChildChromosome DeletionChromosomes, Artificial, BacterialDevelopmental DisabilitiesFemaleGene DuplicationGenome, HumanHumansIn Situ Hybridization, FluorescenceIntellectual DisabilityKaryotypingMaleMosaicismOligonucleotide Array Sequence AnalysisPilot ProjectsROC CurveSensitivity and SpecificityConceptsOligonucleotide array comparative genomic hybridizationArray comparative genomic hybridizationComparative genomic hybridizationGenomic hybridizationMosaic patternGenomic contentPolymorphic inversionsFemale DNAGenomic disordersGenomic variantsOligonucleotide arraysChromosomesGenomic aberrationsFISH analysisChromosomal abnormalitiesDifferent chromosomal abnormalitiesSitu hybridizationRobertsonian translocationsMarker chromosomesDeletionDNA mixturesHybridizationMental retardationDuplicationDNA
2003
FOXC1 gene deletion is associated with eye anomalies in ring chromosome 6
Zhang HZ, Li P, Wang D, Huff S, Nimmakayalu M, Qumsiyeh M, Pober BR. FOXC1 gene deletion is associated with eye anomalies in ring chromosome 6. American Journal Of Medical Genetics Part A 2003, 124A: 280-287. PMID: 14708101, DOI: 10.1002/ajmg.a.20413.Peer-Reviewed Original ResearchConceptsChromosome 6Transcription factor FOXC1Nervous system developmentCentral nervous system developmentRing chromosome 6Microsatellite genotypingDevelopmental defectsOphthalmologic abnormalitiesRing 6Central nervous system examinationPhenotype comparisonsSegmental deletionsGenotype-phenotype correlationTerminal regionGene deletionNervous system examinationMixed hearing lossMolecular definitionSitu hybridizationDeletionFusion pointGenesAbnormal physical featuresCerebral dysgenesisFOXC1 gene
2002
Diversity of mutations and distribution of single nucleotide polymorphic alleles in the human α-l-iduronidase (IDUA) gene
Li P, Wood T, Thompson JN. Diversity of mutations and distribution of single nucleotide polymorphic alleles in the human α-l-iduronidase (IDUA) gene. Genetics In Medicine 2002, 4: 420-426. PMID: 12509712, DOI: 10.1097/00125817-200211000-00004.Peer-Reviewed Original ResearchConceptsSingle nucleotide polymorphismsSNP allelesPolymorphic allelesDisease-causing mutationsRestriction enzyme assayDiversity of mutationsIDUA geneHaplotype structureCommon haplotype structuresLysosomal glycosidaseEnzyme assaysMolecular studiesPhenotype-genotype correlationGenesNucleotide polymorphismsPCR ampliconsMutationsMutational heterogeneityReverse transcriptional polymerase chain reactionRecurrent mutationsAllelesIduronidase geneDifferent mutationsPolymorphism analysisTranscriptional polymerase chain reaction
1998
Analysis of common mutations and associated haplotypes in Chinese patients with glucose‐6‐phosphate dehydrogenase deficiency
Li P, Thompson J, Wang X, Song L. Analysis of common mutations and associated haplotypes in Chinese patients with glucose‐6‐phosphate dehydrogenase deficiency. IUBMB Life 1998, 46: 1135-1143. PMID: 9891846, DOI: 10.1080/15216549800204692.Peer-Reviewed Original ResearchConceptsCommon mutationsSingle nucleotide polymorphismsPolymorphism lociDifferent allelic distributionFurther haplotype analysisDifferent haplotypesNucleotide polymorphismsMutationsDNA samplesAllelic associationPossible allelic associationLociHaplotype analysisAllelic distributionHaplotypesDehydrogenase deficiencyGlucose-6-phosphate dehydrogenase deficiencyFingerprinting method
1997
Comparison of SSCP analysis and CFLP analysis for mutation detection in the human iduronate 2‐sulfatase gene
Maddox L, Li P, Bennett A, Descartes M, Thompson J. Comparison of SSCP analysis and CFLP analysis for mutation detection in the human iduronate 2‐sulfatase gene. IUBMB Life 1997, 43: 1163-1171. PMID: 9442913, DOI: 10.1080/15216549700205001.Peer-Reviewed Original Research
1996
Biochemical and molecular analysis in a patient with the severe form of Hunter syndrome after bone marrow transplantation
Li P, Thompson J, Hug G, Huffman P, Chuck G. Biochemical and molecular analysis in a patient with the severe form of Hunter syndrome after bone marrow transplantation. American Journal Of Medical Genetics 1996, 64: 531-535. PMID: 8870917, DOI: 10.1002/(sici)1096-8628(19960906)64:4<531::aid-ajmg1>3.0.co;2-s.Peer-Reviewed Original ResearchConceptsBone marrow transplantationHunter syndromeMarrow transplantationLeukocyte DNAUrinary glycosaminoglycan excretionAge 2 yearsAge 5 yearsPolymerase chain reaction sequencingCultured skin fibroblastsGlycosaminoglycan excretionPrimary genetic defectMetabolic effectsUrinary glycosaminoglycansSevere formSyndromeSevere disease-causing mutationsLiver homogenatesNovel nonsense mutationMolecular analysisSkin fibroblastsDisease-causing mutationsReaction sequencingGenetic defectsPatientsTransplantation