2024
Genetic 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 ResearchDatabase 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 resources
2021
Detection of cytogenomic abnormalities by OncoScan microarray assay for products of conception from formalin-fixed paraffin-embedded and fresh fetal tissues
Wen J, Grommisch B, DiAdamo A, Chai H, Ng SME, Hui P, Bale A, Mak W, Wang G, Li P. Detection of cytogenomic abnormalities by OncoScan microarray assay for products of conception from formalin-fixed paraffin-embedded and fresh fetal tissues. Molecular Cytogenetics 2021, 14: 21. PMID: 33810806, PMCID: PMC8019165, DOI: 10.1186/s13039-021-00542-5.Peer-Reviewed Original ResearchPathogenic copy number variantsAbnormality detection rateCytogenomic abnormalitiesCulture failureNormal karyotypeHigh diagnostic yieldProducts of conceptionCell contaminationMaternal cell contaminationMolecular inversion probesFresh fetal tissuesParaffin-embedded tissuesFalse-negative resultsFetal resultsRetrospective studyPregnancy lossDiagnostic yieldClinical utilityMaternal cellsFetal tissuesAbnormalitiesNegative resultsChromosomal imbalancesChromosome abnormalitiesUnbalanced structural chromosome abnormalities
2014
Cytogenomic mapping and bioinformatic mining reveal interacting brain expressed genes for intellectual disability
Xu F, Li L, Schulz VP, Gallagher PG, Xiang B, Zhao H, Li P. Cytogenomic mapping and bioinformatic mining reveal interacting brain expressed genes for intellectual disability. Molecular Cytogenetics 2014, 7: 4. PMID: 24410907, PMCID: PMC3905969, DOI: 10.1186/1755-8166-7-4.Peer-Reviewed Original ResearchBrain-expressed genesIngenuity Pathway AnalysisArray comparative genomic hybridizationCentral nervous system-specific genesNervous system-specific genesChromosomal imbalancesGene expression regulationSignificant gene networksTissue expression patternsOligonucleotide array comparative genomic hybridizationChromosomal structural rearrangementsExpression regulationFunctional annotationGene networksGene relationshipsEnsembl ResourcesComparative genomic hybridizationCell signalingIntegrated DiscoveryCellular assemblyBioinformatics miningSpecific genesCandidate genesExpression patternsGenomic disorders