2022
A retrospective cohort analysis of the Yale pediatric genomics discovery program
Al‐Ali S, Jeffries L, Faustino EVS, Ji W, Mis E, Konstantino M, Zerillo C, Jiang Y, Spencer‐Manzon M, Bale A, Zhang H, McGlynn J, McGrath JM, Tremblay T, Brodsky NN, Lucas CL, Pierce R, Deniz E, Khokha MK, Lakhani SA. A retrospective cohort analysis of the Yale pediatric genomics discovery program. American Journal Of Medical Genetics Part A 2022, 188: 2869-2878. PMID: 35899841, PMCID: PMC9474639, DOI: 10.1002/ajmg.a.62918.Peer-Reviewed Original ResearchMeSH KeywordsCohort StudiesGenetic TestingGenomicsHigh-Throughput Nucleotide SequencingHumansPhenotypeRetrospective StudiesConceptsRetrospective cohort analysisNext-generation sequencingCohort analysisSystem abnormalitiesImmune system abnormalitiesCardiovascular system abnormalitiesFunctional molecular analysesNovel genesPrecise molecular diagnosisClinical characteristicsFurther genetic evaluationDiscovery programsComplex patientsMultisystem diseaseDisease genesPediatric providersRare genetic diseaseNew diagnosisPhenotype relationshipsPatientsGenetic diseasesMolecular analysisDiagnosisParticipant demographicsNGS results
2016
Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders
Rosell AM, Pena LD, Schoch K, Spillmann R, Sullivan J, Hooper SR, Jiang Y, Mathey‐Andrews N, Goldstein DB, Shashi V. Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders. Journal Of Genetic Counseling 2016, 25: 1019-1031. PMID: 26868367, DOI: 10.1007/s10897-016-9933-1.Peer-Reviewed Original ResearchConceptsWhole-exome sequencingLikely diagnosisParental perceptionsRetrospective semi-structured interviewsMedical careWES findingsExome sequencingParents of childrenNegative genetic testing resultsGenetic testing resultsChild's medical careRare genetic disorderClinical diagnostic categoriesParental expectationsSense of isolationParental motivationDefinite diagnosisPrimary diagnosisRare disorderSemi-structured interviewsEducational professionalsSpecific treatmentUndiagnosed disordersPossible diagnosisRecurrence risk
2014
Genetic diagnosis of autism spectrum disorders: The opportunity and challenge in the genomics era
Jiang YH, Wang Y, Xiu X, Choy KW, Pursley AN, Cheung SW. Genetic diagnosis of autism spectrum disorders: The opportunity and challenge in the genomics era. Critical Reviews In Clinical Laboratory Sciences 2014, 51: 249-262. PMID: 24878448, PMCID: PMC5937018, DOI: 10.3109/10408363.2014.910747.Peer-Reviewed Original ResearchConceptsSingle nucleotide variantsCopy number variantsGenetics of ASDPenetrant copy number variantsNumber variantsGenome-wide copy number variantsGenetic etiologySyndromic autism spectrum disordersGenomic eraSingle-gene testsSequence analysisWhole-exome sequencingGenetic evaluationNucleotide variantsPleiotropic effectsGenetic variantsClinical genetic evaluationMultiple gene panelsExome sequencingGenetic causeIncomplete penetranceNumber analysisMolecular diagnostic assaysVariable expressivityGene mutations
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