2023
FKBP14 kyphoscoliotic Ehlers–Danlos syndrome misdiagnosed as Larsen syndrome: a case report
Wiegand A, Kastury R, Neogi A, Mani A, Bale A, Cox A. FKBP14 kyphoscoliotic Ehlers–Danlos syndrome misdiagnosed as Larsen syndrome: a case report. Molecular Case Studies 2023, 9: a006281. PMID: 37433679, PMCID: PMC10393184, DOI: 10.1101/mcs.a006281.Peer-Reviewed Original ResearchConceptsHereditary connective tissue disordersConnective tissue disordersKyphoscoliotic Ehlers-Danlos syndromeTissue disordersEhlers-Danlos syndromeLarsen syndromeClinical diagnosisGenetic testingHereditary cancer predisposition syndromesSignificant vascular eventsPremenopausal breast cancerPast medical historyHomozygous pathogenic variantCancer predisposition syndromeWhole-exome sequencingMolecular genetic testingCardiovascular eventsCarotid dissectionVascular eventsCardiovascular manifestationsCase reportMedical historyRecent diagnosisBreast cancerEarly diagnosis
2017
Application of Whole Exome Sequencing in the Clinical Diagnosis and Management of Inherited Cardiovascular Diseases in Adults
Seidelmann SB, Smith E, Subrahmanyan L, Dykas D, Abou Ziki MD, Azari B, Hannah-Shmouni F, Jiang Y, Akar JG, Marieb M, Jacoby D, Bale AE, Lifton RP, Mani A. Application of Whole Exome Sequencing in the Clinical Diagnosis and Management of Inherited Cardiovascular Diseases in Adults. Circulation Genomic And Precision Medicine 2017, 10: e001573. PMID: 28087566, PMCID: PMC5245580, DOI: 10.1161/circgenetics.116.001573.Peer-Reviewed Original ResearchConceptsWhole-exome sequencingSudden cardiac deathCardiovascular diseaseClinical diagnosisExome sequencingCardiac deathInherited cardiovascular diseaseCentre of careNovel candidate genesValuable screening toolAdult patientsRisk stratificationPrimary insultCardiac functionGenetic testingScreening toolDiagnosisCVD genesGenetic causeCardiovascular geneticsGenetic panelSuccess rateExome databasesPotential disease associationsPatients