2024
Clinical spectrum of Transthyretin amyloidogenic mutations among diverse population origins
De Lillo A, Pathak G, Low A, De Angelis F, Abou Alaiwi S, Miller E, Fuciarelli M, Polimanti R. Clinical spectrum of Transthyretin amyloidogenic mutations among diverse population origins. Human Genomics 2024, 18: 31. PMID: 38523305, PMCID: PMC10962184, DOI: 10.1186/s40246-024-00596-7.Peer-Reviewed Original ResearchConceptsCardiac congenital anomaliesAmyloidogenic mutationsCross-ancestry meta-analysisCongenital anomaliesComplex genotype-phenotype correlationsVal122Ile mutationGenotype-phenotype correlationPeripheral nerve disordersHereditary form of amyloidosisAncestry-specificCross-ancestryEuropean-descent individualsEast AsiansTTR-related amyloidosisIndividuals of African descentPopulation originClinical presentationAtrioventricular blockClinical spectrumDelayed diagnosisTTR mutationsAfrican descentNerve disordersTransthyretin mutationMutations
2019
Increased Risk of Multiple Outpatient Surgeries in African-American Carriers of Transthyretin Val122Ile Mutation Is Modulated by Non-Coding Variants
Polimanti R, Nuñez YZ, Gelernter J. Increased Risk of Multiple Outpatient Surgeries in African-American Carriers of Transthyretin Val122Ile Mutation Is Modulated by Non-Coding Variants. Journal Of Clinical Medicine 2019, 8: 269. PMID: 30813263, PMCID: PMC6406512, DOI: 10.3390/jcm8020269.Peer-Reviewed Original Research