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
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 retardationDuplicationDNA