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 resultsChemotherapyExome