2023
Physician responses to apple watch-detected irregular rhythm alerts
Demkowicz P, Dhruva S, Spatz E, Beatty A, Ross J, Khera R. Physician responses to apple watch-detected irregular rhythm alerts. American Heart Journal 2023, 262: 29-37. PMID: 37084933, PMCID: PMC10988207, DOI: 10.1016/j.ahj.2023.04.008.Peer-Reviewed Original ResearchConceptsAtrial fibrillationPrimary careEmergency medicinePhysician responsesDiagnostic testingUse of antiarrhythmicsClinical practice guidelinesMeasurement of BNPFurther diagnostic testingCase-based surveyLarge academic centerAF alertsAsymptomatic patientsPatient demographicsClinical symptomsTreatment optionsMedical historyPatient referralPhysician specialtyPractice guidelinesPhysician differencesRhythm monitoringAcademic centersUS FoodClinical complexity
2017
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases
Pena LDM, Jiang YH, Schoch K, Spillmann RC, Walley N, Stong N, Horn S, Sullivan JA, McConkie-Rosell A, Kansagra S, Smith EC, El-Dairi M, Bellet J, Keels MA, Jasien J, Kranz PG, Noel R, Nagaraj SK, Lark RK, Wechsler DSG, del Gaudio D, Leung ML, Hendon LG, Parker CC, Jones KL, Goldstein D, Shashi V, Members U, Alejandro M, Bacino C, Balasubramanyam A, Bostwick B, Burrage L, Chen S, Clark G, Craigen W, Dhar S, Emrick L, Graham B, Hanchard N, Jain M, Lalani S, Lee B, Lewis R, Azamian M, Moretti P, Nicholas S, Orange J, Posey J, Potocki L, Rosenfeld J, Samson S, Scott D, Tran A, Vogel T, Zhang J, Bellen H, Wangler M, Yamamoto S, Eng C, Muzny D, Ward P, Yang Y, Goldstein D, Stong N, Jiang Y, McConkie-Rosell A, Pena L, Schoch K, Shashi V, Spillmann R, Sullivan J, Walley N, Beggs A, Briere L, Cooper C, Donnell-Fink L, Krieg E, Krier J, Lincoln S, Loscalzo J, Maas R, MacRae C, Pallais J, Rodan L, Silverman E, Stoler J, Sweetser D, Walsh C, Esteves C, Holm I, Kohane I, Mazur P, McCray A, Might M, Ramoni R, Splinter K, Bick D, Birch C, Boone B, Brown D, Dorset D, Handley L, Jacob H, Jones A, Lazar J, Levy S, Newberry J, Schroeder M, Strong K, Worthey E, Dayal J, Eckstein D, Gould S, Howerton E, Krasnewich D, Mamounas L, Manolio T, Mulvihill J, Urv T, Wise A, Soldatos A, Brush M, Gourdine J, Haendel M, Koeller D, Kyle J, Metz T, Waters K, Webb-Robertson B, Ashley E, Bernstein J, Dries A, Fisher P, Kohler J, Waggott D, Wheeler M, Zornio P, Allard P, Barseghyan H, Dell'Angelica E, Dillon A, Dipple K, Dorrani N, Douine E, Eskin A, Fogel B, Herzog M, Lee H, Lipson A, Loo S, Martínez-Agosto J, Nelson S, Palmer C, Papp J, Parker N, Sinsheimer J, Vilain E, Zheng A, Adams C, Burke E, Chao K, Davids M, Draper D, Estwick T, Frisby T, Frost K, Gartner V, Godfrey R, Goheen M, Golas G, Gordon M, Groden C, Hackbarth M, Hardee I, Johnston J, Koehler A, Latham L, Latour Y, Lau C, Levy D, Liebendorfer A, Macnamara E, Maduro V, Markello T, McCarty A, Murphy J, Nehrebecky M, Novacic D, Pusey B, Sadozai S, Schaffer K, Sharma P, Thomas S, Tolman N, Toro C, Valivullah Z, Wahl C, Warburton M, Weech A, Yu G, Gropman A, Adams D, Gahl W, Malicdan M, Tifft C, Wolfe L, Lee P, Postlethwait J, Westerfield M, Bican A, Cogan J, Hamid R, Newman J, Phillips J, Robertson A. Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases. Genetics In Medicine 2017, 20: 464-469. PMID: 28914269, PMCID: PMC5851806, DOI: 10.1038/gim.2017.128.Peer-Reviewed Original ResearchConceptsWhole-exome sequencingMagnetic resonance image changesPathogenic variantsSanger sequencingPhenotype-first approachFurther diagnostic testingNew clinical findingsInfantile neuroaxonal dystrophyHeterozygous pathogenic variantsInfantile systemic hyalinosisSingle-gene testingClinical suspicionClinical findingsConclusionThese casesCerebellar atrophyWhite matter leukoencephalopathyNeuroaxonal dystrophyProgressive ataxiaMolecular testingSystemic hyalinosisNGS testingNovel homozygous deletionUndiagnosed diseaseClinical diagnosisDiagnostic testing
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