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
2019
Quantitative Phenotyping of Xenopus Embryonic Heart Pathophysiology Using Hemoglobin Contrast Subtraction Angiography to Screen Human Cardiomyopathies
Deniz E, Jonas S, Khokha MK, Choma MA. Quantitative Phenotyping of Xenopus Embryonic Heart Pathophysiology Using Hemoglobin Contrast Subtraction Angiography to Screen Human Cardiomyopathies. Frontiers In Physiology 2019, 10: 1197. PMID: 31620018, PMCID: PMC6763566, DOI: 10.3389/fphys.2019.01197.Peer-Reviewed Original ResearchCongenital heart diseaseMyocardial functionSubtraction angiographyHuman cardiomyopathyEfficient animal modelMicroangiography techniqueCardiac dysfunctionCardiac lesionsUnderlying pathophysiologyCardiac functionHeart diseaseAnimal modelsSignificant causeHuman candidate genesHeart pathophysiologyPatientsAngiographyCardiomyopathyPathophysiologyBiomechanical phenotypeDysfunctionCandidate genesDiseaseGene dysfunctionHuman genomic analysis