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
2013
The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders
Shashi V, McConkie-Rosell A, Rosell B, Schoch K, Vellore K, McDonald M, Jiang YH, Xie P, Need A, Goldstein DB. The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders. Genetics In Medicine 2013, 16: 176-182. PMID: 23928913, DOI: 10.1038/gim.2013.99.Peer-Reviewed Original ResearchConceptsUndiagnosed genetic disordersDiagnostic evaluationNext-generation sequencingGenetic diagnostic evaluationGenetic testingGenetic disordersGenetic diagnosisGeneral genetics clinicsTertiary medical centerFirst clinical visitComprehensive clinical evaluationUnselected consecutive patientsTraditional genetic testingConsecutive patientsInitial visitClinical visitsClinical evaluationFirst visitDiagnostic yieldMedical CenterNumber of visitsDiagnosis rateGenetics clinicDiagnostic algorithmPatients