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 ResearchConceptsRetrospective 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
2015
Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition
Petrovski S, Shashi V, Petrou S, Schoch K, McSweeney KM, Dhindsa RS, Krueger B, Crimian R, Case LE, Khalid R, El-Dairi MA, Jiang YH, Mikati MA, Goldstein DB. Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition. Molecular Case Studies 2015, 1: a000257. PMID: 27148561, PMCID: PMC4850896, DOI: 10.1101/mcs.a000257.Peer-Reviewed Original ResearchHigh-dose riboflavinProgressive neurological conditionExome sequencing resultsAutoimmune conditionsMotor strengthPatient outcomesBrown-VialettoRiboflavin treatmentAppropriate treatmentNeurological conditionsCorrect diagnosisFemale sufferingNew diagnosisSyndrome 2Neurological disordersRare Mendelian conditionsTherapy plansExome sequencingDiagnosisMendelian conditionsCareful interpretationTreatmentSequencing resultsChemotherapyExomeSustained therapeutic response to riboflavin in a child with a progressive neurological condition, diagnosed by whole-exome sequencing
Shashi V, Petrovski S, Schoch K, Crimian R, Case LE, Khalid R, El-Dairi MA, Jiang YH, Mikati MA, Goldstein DB. Sustained therapeutic response to riboflavin in a child with a progressive neurological condition, diagnosed by whole-exome sequencing. Molecular Case Studies 2015, 1: a000265. PMID: 27148562, PMCID: PMC4850881, DOI: 10.1101/mcs.a000265.Peer-Reviewed Original ResearchWhole-exome sequencingTherapeutic responseImmediate clinical responseSustained therapeutic responseProgressive neurological conditionMotor weaknessClinical responseMedical managementFatal conditionCase reportSensory ataxiaBrown-VialettoProgressive conditionNeurological conditionsDisease processSyndrome 2Patient careAccurate diagnosisRiboflavin therapyVision impairmentTherapyPromising outcomesDiagnosisChildrenReportPractical considerations in the clinical application of whole‐exome sequencing
Shashi V, McConkie‐Rosell A, Schoch K, Kasturi V, Rehder C, Jiang YH, Goldstein DB, McDonald MT. Practical considerations in the clinical application of whole‐exome sequencing. Clinical Genetics 2015, 89: 173-181. PMID: 25678066, DOI: 10.1111/cge.12569.Peer-Reviewed Original ResearchConceptsWhole-exome sequencingClinical informationMedical genetics practiceWES resultsUtility of WESMolecular diagnostic rateClinical whole exome sequencingMedical geneticistsAdditional laboratory testsRetrospective studyDefinite diagnosisClinical dataLikely diagnosisPossible diagnosisClinical categoriesDiagnostic rateFurther laboratory testingPatientsUncertain significanceGenetic practiceDiagnosisClinical applicationFamily membersLaboratory resultsLaboratory testing