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
2018
CRISPR/Cas9-induced shank3b mutant zebrafish display autism-like behaviors
Liu CX, Li CY, Hu CC, Wang Y, Lin J, Jiang YH, Li Q, Xu X. CRISPR/Cas9-induced shank3b mutant zebrafish display autism-like behaviors. Molecular Autism 2018, 9: 23. PMID: 29619162, PMCID: PMC5879542, DOI: 10.1186/s13229-018-0204-x.Peer-Reviewed Original ResearchConceptsMutant zebrafishMutant zebrafish modelGenome editing techniquesGene editing approachesZebrafish genomeOrthologous genesAttractive organismGenomic studiesCRISPR/Cas9 gene editing approachGenetic manipulationZebrafish modelCRISPR/ZebrafishMolecular mechanismsEditing approachesAdult stageFunction mutationsMolecular analysisEditing techniquesMolecular changesAutism-like behaviorsEarly developmentSwimming behaviorPresynaptic synaptophysinMorphological measurements