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
2020
DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes
Marquez J, Mann N, Arana K, Deniz E, Ji W, Konstantino M, Mis EK, Deshpande C, Jeffries L, McGlynn J, Hugo H, Widmeier E, Konrad M, Tasic V, Morotti R, Baptista J, Ellard S, Lakhani SA, Hildebrandt F, Khokha MK. DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes. Journal Of Medical Genetics 2020, 58: 453-464. PMID: 32631816, PMCID: PMC7785698, DOI: 10.1136/jmedgenet-2019-106805.Peer-Reviewed Original ResearchConceptsLoss of ciliaPatient tissuesPatient variantsCongenital heart diseaseMultiple organ systemsMultiple congenital anomaliesDLG5 variantsVariety of pathologiesNephrotic syndromeHeart diseaseCongenital anomaliesRespiratory tractKidney tissueOrgan systemsCystic kidneysPatient phenotypesKidneyDiseaseLimb abnormalitiesUnrelated familiesRescue experimentsCraniofacial malformationsCilia dysfunctionTissue-specific manifestationsTissue
2017
Patterns of Oxygenation, Mortality, and Growth Status in the Surfactant Positive Pressure and Oxygen Trial Cohort
Di Fiore J, Martin R, Li H, Morris N, Carlo W, Finer N, Walsh M, Health A, Jobe A, Caplan M, Polin R, Laptook R, Oh W, Hensman A, Gingras D, Barnett S, Lillie S, Francis K, Andrews D, Angela K, Fanaroff A, Newman N, Siner B, Zadell A, Schibler K, Donovan E, Bridges K, Alexander B, Grisby C, Mersmann M, Mincey H, Hessling J, Goldberg R, Cotten C, Wallace D, Freedman S, Auten K, Fisher K, Foy K, Stoll B, Piazza A, Buchter S, Carlton D, Hutchinson A, Hale E, Higgins R, Archer S, Poindexter B, Lemons J, Hamer F, Herron D, Miller L, Wilson L, Berberich M, Blaisdell C, Gail D, Kiley J, Gantz M, Das A, Crawford M, Hastings B, Irene A, Auman J, Huitema C, Pickett J, Wallace D, Zaterka-Baxter K, Van Meurs K, Stevenson D, Ball M, Proud M, Frantz I, Fiascone J, Furey A, MacKinnon B, Nylen E, Ambalavanan N, Collins M, Cosby S, Phillips V, Rasmussen M, Wozniak P, Rich W, Arnell K, Bridge R, Demetrio C, Bell E, Widness J, Klein J, Johnson K, Duara S, Everett-Thomas R, Watterberg K, Ohls R, Rohr J, Lacy C, Phelps D, Laroia N, Markowitz G, Reubens L, Burnell E, Sánchez P, Rosenfeld C, Salhab W, Allen J, Grau L, Guzman A, Hensley G, Lepps M, Martin M, Miller N, Solis A, Vasil D, Wilder K, Kennedy K, Tyson J, Morris B, Harris B, Lis A, Martin S, McDavid G, Tate P, Wright S, Yoder B, Faix R, Burnett J, Jensen J, Osborne K, Spencer C, Weaver-Lewis K, O'Shea T, Peters N, Shankaran S, Sood B, Bara R, Billian E, Johnson M, Ehrenkranz R, Narendran V, Bhandari V, Jacobs H, Cervone P, Gettner P, Konstantino M, Poulsen J, Taft J. Patterns of Oxygenation, Mortality, and Growth Status in the Surfactant Positive Pressure and Oxygen Trial Cohort. The Journal Of Pediatrics 2017, 186: 49-56.e1. PMID: 28279433, PMCID: PMC5484739, DOI: 10.1016/j.jpeds.2017.01.057.Peer-Reviewed Original ResearchConceptsDays of lifeIntermittent hypoxemia eventsOxygen saturation targetsOxygen saturationHypoxemia eventsSaturation targetsGestational ageHigher oxygen saturation targetsExtremely preterm infantsMedian oxygen saturationWeeks of gestationLowest oxygen saturationPositive pressureOxygen saturation levelsPatterns of oxygenationIntermittent hypoxemiaPreterm infantsTrial cohortSupplemental oxygenLowest quartileHigh incidenceTarget infantsInfantsSGASurvival