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
2021
Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients
Hashem H, Bucciol G, Ozen S, Unal S, Bozkaya IO, Akarsu N, Taskinen M, Koskenvuo M, Saarela J, Dimitrova D, Hickstein DD, Hsu AP, Holland SM, Krance R, Sasa G, Kumar AR, Müller I, de Sousa MA, Delafontaine S, Moens L, Babor F, Barzaghi F, Cicalese MP, Bredius R, van Montfrans J, Baretta V, Cesaro S, Stepensky P, Benedicte N, Moshous D, Le Guenno G, Boutboul D, Dalal J, Brooks JP, Dokmeci E, Dara J, Lucas CL, Hambleton S, Wilson K, Jolles S, Koc Y, Güngör T, Schnider C, Candotti F, Steinmann S, Schulz A, Chambers C, Hershfield M, Ombrello A, Kanakry JA, Meyts I. Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients. Journal Of Clinical Immunology 2021, 41: 1633-1647. PMID: 34324127, PMCID: PMC8452581, DOI: 10.1007/s10875-021-01098-0.Peer-Reviewed Original ResearchMeSH KeywordsAdenosine DeaminaseAdolescentAdultAgammaglobulinemiaBone Marrow Failure DisordersChildChild, PreschoolFemaleGraft vs Host DiseaseHematopoietic Stem Cell TransplantationHumansIntercellular Signaling Peptides and ProteinsKaplan-Meier EstimateMaleRetrospective StudiesSevere Combined ImmunodeficiencyTreatment OutcomeYoung AdultConceptsHematopoietic cell transplantationBone marrow failureImmune cytopeniasOverall survivalRefractory cytopeniaGVHD-free relapse-free survivalOutcomes of HCTNecrosis factor blockadeNew vascular eventsRelapse-free survivalTreatment of choiceAdenosine deaminase 2ADA2 enzyme activityInherited inborn errorFinal transplantVascular eventsMedian agePrimary outcomeDADA2 patientsRetrospective studyCell transplantationImmunological phenotypeDefinitive cureEffective treatmentCytopenias