2022
Detecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patients
Wen J, Chai H, Grommisch B, DiAdamo A, Dykas D, Ma D, Popa A, Zhao C, Spencer‐Manzon M, Jiang Y, McGrath J, Li P, Bale A, Zhang H. Detecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patients. American Journal Of Medical Genetics Part A 2022, 188: 1728-1738. PMID: 35199448, DOI: 10.1002/ajmg.a.62693.Peer-Reviewed Original ResearchConceptsPediatric patientsWhole-exome sequencingCase seriesAR diseasesPathogenic variantsLarge consecutive case seriesConsecutive case seriesLarge case seriesUniparental disomyLikely pathogenic variantsRegions of homozygosityChromosomal microarray analysisAutosomal recessive diseasePrader-Willi syndromeDiagnostic findingsDiagnostic yieldPatientsPredictive valueGenetic testingHomozygous variantDiseaseExome sequencingRecessive diseaseGenetic counselingStrongest predictor
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