2018
Characteristics of undiagnosed diseases network applicants: implications for referring providers
Walley NM, Pena LDM, Hooper SR, Cope H, Jiang YH, McConkie-Rosell A, Sanders C, Schoch K, Spillmann RC, Strong K, McCray AT, Mazur P, Esteves C, LeBlanc K, Undiagnosed Diseases Network, Wise AL, Shashi V. Characteristics of undiagnosed diseases network applicants: implications for referring providers. BMC Health Services Research 2018, 18: 652. PMID: 30134969, PMCID: PMC6106923, DOI: 10.1186/s12913-018-3458-2.Peer-Reviewed Original ResearchConceptsObjective findingsSubjective symptomsUndiagnosed diseaseUndiagnosed Diseases NetworkAccepted applicationFurther diagnostic processesPrimary care providersPrimary care physiciansSystematic retrospective reviewSubspecialty consultsPrimary outcomeCare physiciansRetrospective reviewSpecialty consultationReferral lettersSpecialist consultationFunctional disordersCare providersSubjective findingsDemographic dataSymptomsReferral sourceOlder individualsDiagnostic effortsPatientsPsychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing?
McConkie‐Rosell A, Hooper SR, Pena LDM, Schoch K, Spillmann RC, Jiang Y, Cope H, Network U, Palmer C, Shashi V. Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing? Journal Of Genetic Counseling 2018, 27: 935-946. PMID: 29297108, PMCID: PMC6028305, DOI: 10.1007/s10897-017-0193-5.Peer-Reviewed Original ResearchConceptsPsychosocial profileHealth care empowermentPsychological needsParents’ psychological needsHigh emotional costParents of childrenAnxiety symptomsEmotional costsUndiagnosed childrenOlder childrenGender differencesParentsUndiagnosed diseaseClinical sitesAnxietyChildrenUndiagnosed Diseases NetworkDegree toleranceHealth care engagementDepressionChronic illnessCare engagementClinical evaluationMedical findingsEmpowerment
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, Rapisardo 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. 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 testingA window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network
Spillmann RC, McConkie-Rosell A, Pena L, Jiang YH, Undiagnosed Diseases Network, Schoch K, Walley N, Sanders C, Sullivan J, Hooper SR, Shashi V. A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network. Orphanet Journal Of Rare Diseases 2017, 12: 71. PMID: 28416019, PMCID: PMC5392939, DOI: 10.1186/s13023-017-0623-3.Peer-Reviewed Original ResearchConceptsUndiagnosed Diseases NetworkUndiagnosed illnessesObjective findingsUndiagnosed diseaseUnique illness experiencesIllness narrativesHumane medical careDisease networkUndiagnosed patientsChild's illnessChild healthcareAdult probandsMedical careIllnessIllness experienceHealthcare optionsPatientsProbandsAdultsHealthy lifeSymptomsDiseaseChild managementPersonal medical informationMedical information