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
2009
Liver transplantation for glycogen storage disease type Ia
Reddy SK, Austin SL, Spencer-Manzon M, Koeberl DD, Clary BM, Desai DM, Smith AD, Kishnani PS. Liver transplantation for glycogen storage disease type Ia. Journal Of Hepatology 2009, 51: 483-490. PMID: 19596478, DOI: 10.1016/j.jhep.2009.05.026.Peer-Reviewed Original ResearchConceptsGSD Ia patientsLiver transplantationIA patientsHepatocellular carcinomaHepatocellular adenomaRenal dysfunctionPrevention of HCCGSD IaMultiple hepatocellular adenomasPost-transplant complicationsPre-operative comorbiditiesGlycogen storage disease typeDefinitive preventionImmunosuppressive medicationsAllograft rejectionCytomegalovirus infectionRenal functionTotal cholesterolHemoglobin levelsMetabolic derangementsSerum triglyceridesRetrospective studyUnited NetworkPrincipal indicationBlood glucose