2021
Epistatic interaction of PDE4DIP and DES mutations in familial atrial fibrillation with slow conduction
Ziki M, Bhat N, Neogi A, Driscoll TP, Ugwu N, Liu Y, Smith E, Abboud JM, Chouairi S, Schwartz MA, Akar JG, Mani A. Epistatic interaction of PDE4DIP and DES mutations in familial atrial fibrillation with slow conduction. Human Mutation 2021, 42: 1279-1293. PMID: 34289528, PMCID: PMC8434967, DOI: 10.1002/humu.24265.Peer-Reviewed Original ResearchConceptsEarly-onset atrial fibrillationAtrial fibrillationHeart blockFamilial atrial fibrillationSlow conductionDES mutationsSlow atrial fibrillationWhole-exome sequencingConduction diseaseIsoproterenol stimulationExome sequencingGenetic causePathogenic mutationsPDE4DIPReduced colocalizationHigh penetranceGenetic screeningUnrelated kindredsFibrillationPKA phosphorylationDesmin geneEpistatic interactionsT substitutionKindredsPDE4D
2017
Deleterious protein‐altering mutations in the SCN10A voltage‐gated sodium channel gene are associated with prolonged QT
Ziki M, Seidelmann SB, Smith E, Atteya G, Jiang Y, Fernandes RG, Marieb MA, Akar JG, Mani A. Deleterious protein‐altering mutations in the SCN10A voltage‐gated sodium channel gene are associated with prolonged QT. Clinical Genetics 2017, 93: 741-751. PMID: 28407228, PMCID: PMC5640462, DOI: 10.1111/cge.13036.Peer-Reviewed Original ResearchConceptsLong QT syndromeSCN10A mutationsWhole-exome sequencingVoltage-gated sodium channel geneCongenital long QT syndromeHistory of palpitationsQT prolonging medicationsLife-threatening complicationsIdiopathic long QT syndromeProtein-altering mutationsSodium channel geneConfirmatory Sanger sequencingMutation burden analysisGenetic programAtrial fibrillationIdentifiable causeProlonged QTChannel genesMutation carriersArrhythmia genesQT syndromeGenesLQTS genesFrameshift mutationGenetic causeApplication 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
2016
Metabolic syndrome
Ziki M, Mani A. Metabolic syndrome. Current Opinion In Lipidology 2016, 27: 162-171. PMID: 26825138, PMCID: PMC5141383, DOI: 10.1097/mol.0000000000000276.Peer-Reviewed Original ResearchConceptsMetabolic traitsGenome-wide association studiesCognate pathwaysDiverse traitsMultifactorial heritabilityDisease genesAssociation studiesGenetic studiesTraitsGenetic investigationsCommon variantsDisease mechanismsGenetic causeGenetic risk factorsHomogenous populationDisease pathophysiologyQuantitative distributionGenesVariantsHeritabilityExtreme endsSubstantial progressKindredsPathwayLarge effect
2014
Syndromic Congenital Heart Diseases
Mani A, Alizadehasl A. Syndromic Congenital Heart Diseases. 2014, 65-69. DOI: 10.1007/978-1-4471-6383-1_10.Peer-Reviewed Original Research
2012
Prevalence of Obesity and Traditional Cardiovascular Risk Factors in South Asians
Khanna P, Mani A. Prevalence of Obesity and Traditional Cardiovascular Risk Factors in South Asians. Current Cardiovascular Risk Reports 2012, 6: 112-119. DOI: 10.1007/s12170-012-0220-x.Peer-Reviewed Original ResearchRisk factorsCardiovascular diseaseSouth AsiansTraditional cardiovascular risk factorsCardiovascular risk factorsCVD risk factorsPrevalence of obesityLifestyle factorsNovel biomarkersGenetic predispositionHealthcare providersDisease controlNovel therapeuticsMajor causeGenetic causePrevalenceObesityWestern worldAsiansCauseImportant contributorDiabetesSpecific differencesFactorsMortality