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
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 Research1q21.1 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
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
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 Research
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
Analytical 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 retardationDuplicationDNAPulmonary atresia with intact ventricular septum (PA‐IVS) in monozygotic twins
De Stefano D, Li P, Xiang B, Hui P, Zambrano E. Pulmonary atresia with intact ventricular septum (PA‐IVS) in monozygotic twins. American Journal Of Medical Genetics Part A 2008, 146A: 525-528. PMID: 18203206, DOI: 10.1002/ajmg.a.32160.Peer-Reviewed Original Research
2006
Karyotype–phenotype insights from 11q14.1‐q23.2 interstitial deletions: FZD4 haploinsufficiency and exudative vitreoretinopathy in a patient with a complex chromosome rearrangement
Li P, Zhang HZ, Huff S, Nimmakayalu M, Qumsiyeh M, Yu J, Szekely A, Xu T, Pober BR. Karyotype–phenotype insights from 11q14.1‐q23.2 interstitial deletions: FZD4 haploinsufficiency and exudative vitreoretinopathy in a patient with a complex chromosome rearrangement. American Journal Of Medical Genetics Part A 2006, 140A: 2721-2729. PMID: 17103440, DOI: 10.1002/ajmg.a.31498.Peer-Reviewed Original ResearchAbnormalities, MultipleBase SequenceChild, PreschoolChromosome DeletionChromosomes, Human, Pair 11Cleft PalateCraniofacial AbnormalitiesDNA PrimersExudates and TransudatesFemaleFingersFrizzled ReceptorsHumansKaryotypingModels, GeneticPhenotypeReceptors, G-Protein-CoupledRetinal DiseasesToesVitreous Body