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
Genomics of Immune Diseases and New Therapies
Lenardo M, Lo B, Lucas CL. Genomics of Immune Diseases and New Therapies. Annual Review Of Immunology 2015, 34: 1-29. PMID: 26735698, PMCID: PMC5736009, DOI: 10.1146/annurev-immunol-041015-055620.Peer-Reviewed Original ResearchConceptsDNA sequencing technologiesMagnesium transportersSequencing technologiesNew genetic diseasesGenomicsGenetic lossGenetic diseasesMolecular definitionGenetic pathogenesisPatient phenotypesBiochemical investigationsImmune regulationImmune diseasesPrecision medicine treatmentImmunological diseasesNew therapiesGenetic counselingTransportersAdditional examplesPhenotypeRegulationGreat advancesImproved diagnosis