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
2021
SATB1 Regulates Chromatin Organization and HSP70 Expression in Early Erythropoiesis and Is Downregulated in Models of Diamond Blackfan Anemia
Wilkes M, Shibuya A, Scanlon V, Chae H, Narla A, Sakamoto K. SATB1 Regulates Chromatin Organization and HSP70 Expression in Early Erythropoiesis and Is Downregulated in Models of Diamond Blackfan Anemia. Blood 2021, 138: 2189. DOI: 10.1182/blood-2021-153814.Peer-Reviewed Original ResearchDiamond-Blackfan anemiaInduction of HSP70Early erythropoiesisHsp70 geneErythroid transcription factor GATA1Ribosomal protein RPS19Transcription factor GATA1Blackfan anemiaBulk RNA-seqCritical molecular mechanismsCord blood HSPCsChromatin organizationChromatin loopsRibosomal genesHematopoietic stem cellsRNA-seqSpecial ATUncommitted progenitorsErythroid differentiationProgenitor expansionProximal promoterErythroid defectsMolecular mechanismsRare genetic diseaseAnemia phenotype
2019
Adolescent Vulvar Angiokeratoma Associated with Lichen Sclerosus
Vash-Margita A, Smith Y, Rabah R, Quint EH. Adolescent Vulvar Angiokeratoma Associated with Lichen Sclerosus. Journal Of Pediatric And Adolescent Gynecology 2019, 32: 440-442. PMID: 30974213, DOI: 10.1016/j.jpag.2019.04.004.Peer-Reviewed Original ResearchConceptsLichen sclerosusVulvar angiokeratomaAsymptomatic female patientFemale adolescent populationTopical steroidsSymptomatic adolescentsFemale patientsVulvar lesionsVulvar pruritusExcised lesionsVascular lesionsPapular lesionsRare genetic diseaseSclerosusAngiokeratomaLesionsAdolescent populationPruritusPathologyAdolescentsGenetic diseasesPatientsBiopsySymptomsSteroids
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