Genomic Screening for Pathogenic Transthyretin Variants Finds Evidence of Underdiagnosed Amyloid Cardiomyopathy From Health Records

[1]  W. Chung,et al.  ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG) , 2021, Genetics in Medicine.

[2]  E. Kenny,et al.  Genomic Screening Identifies Individuals at High Risk for Hereditary Transthyretin Amyloidosis , 2021, Journal of personalized medicine.

[3]  B. Gagnon,et al.  Patient and family experience with transthyretin amyloid cardiomyopathy (ATTR-CM) and polyneuropathy (ATTR-PN) amyloidosis: results of two focus groups , 2020, Orphanet Journal of Rare Diseases.

[4]  Sanjiv J. Shah,et al.  Cost-Effectiveness of Tafamidis Therapy for Transthyretin Amyloid Cardiomyopathy , 2020, Circulation.

[5]  P. Hansen,et al.  [Transthyretin amyloid cardiomyopathy]. , 2020, Ugeskrift for laeger.

[6]  Judy H. Cho,et al.  Association of the V122I Hereditary Transthyretin Amyloidosis Genetic Variant With Heart Failure Among Individuals of African or Hispanic/Latino Ancestry. , 2019, JAMA.

[7]  Brandon K. Fornwalt,et al.  Prevalence and Electronic Health Record-based Phenotype of Loss-of-function Genetic Variants in Arrhythmogenic Right Ventricular Cardiomyopathy-associated Genes. , 2019, Circulation. Genomic and precision medicine.

[8]  C. Rapezzi,et al.  Expert Consensus Recommendations for the Suspicion and Diagnosis of Transthyretin Cardiac Amyloidosis. , 2019, Circulation. Heart failure.

[9]  R. Falk,et al.  Screening for Transthyretin Amyloid Cardiomyopathy in Everyday Practice. , 2019, JACC. Heart failure.

[10]  A. Petrie,et al.  Natural History, Quality of Life, and Outcome in Cardiac Transthyretin Amyloidosis. , 2019, Circulation.

[11]  Brandon K. Fornwalt,et al.  Genomics-First Evaluation of Heart Disease Associated With Titin-Truncating Variants. , 2019, Circulation.

[12]  M. Kürtüncü,et al.  Inotersen Treatment for Patients with Hereditary Transthyretin Amyloidosis , 2019, Turkish Journal Of Neurology.

[13]  A. Gracia Gutiérrez,et al.  Estimating the prevalence of allelic variants in the transthyretin gene by analysing large-scale sequencing data , 2019, European Journal of Human Genetics.

[14]  I. Conceição,et al.  Early diagnosis of ATTR amyloidosis through targeted follow-up of identified carriers of TTR gene mutations* , 2019, Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis.

[15]  R. Falk,et al.  Geographic Disparities in Reported US Amyloidosis Mortality From 1979 to 2015: Potential Underdetection of Cardiac Amyloidosis , 2018, JAMA cardiology.

[16]  Sanjiv J. Shah,et al.  Tafamidis Treatment for Patients with Transthyretin Amyloid Cardiomyopathy , 2018, The New England journal of medicine.

[17]  S. Solomon,et al.  Patisiran, an RNAi Therapeutic, for Hereditary Transthyretin Amyloidosis , 2018, The New England journal of medicine.

[18]  Chunlei Liu,et al.  ClinVar: improving access to variant interpretations and supporting evidence , 2017, Nucleic Acids Res..

[19]  Alexander E. Lopez,et al.  Profiling and leveraging relatedness in a precision medicine cohort of 92,455 exomes , 2017, bioRxiv.

[20]  P. Elliott,et al.  Addressing Common Questions Encountered in the Diagnosis and Management of Cardiac Amyloidosis , 2017, Circulation.

[21]  A. Chakrabartty,et al.  Transthyretin amyloidosis: an under-recognized neuropathy and cardiomyopathy. , 2017, Clinical science.

[22]  J. Buxbaum,et al.  Transthyretin V122I (pV142I)* cardiac amyloidosis: an age-dependent autosomal dominant cardiomyopathy too common to be overlooked as a cause of significant heart disease in elderly African Americans , 2017, Genetics in Medicine.

[23]  L. Anderson,et al.  Afro-Caribbean Heart Failure in the United Kingdom: Cause, Outcomes, and ATTR V122I Cardiac Amyloidosis. , 2016, Circulation. Heart failure.

[24]  Sanjiv J. Shah,et al.  Genotype and Phenotype of Transthyretin Cardiac Amyloidosis: THAOS (Transthyretin Amyloid Outcome Survey). , 2016, Journal of the American College of Cardiology.

[25]  Jeffrey Staples,et al.  PRIMUS: rapid reconstruction of pedigrees from genome-wide estimates of identity by descent. , 2014, American journal of human genetics.

[26]  F. Salvi,et al.  Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective. , 2013, European heart journal.

[27]  J. Berk,et al.  Transthyretin (TTR) Cardiac Amyloidosis , 2012, Circulation.

[28]  P. Hawkins,et al.  Cardiac phenotype and clinical outcome of familial amyloid polyneuropathy associated with transthyretin alanine 60 variant. , 2012, European heart journal.

[29]  H. Hakonarson,et al.  ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data , 2010, Nucleic acids research.

[30]  J. Koziol,et al.  Significance of the amyloidogenic transthyretin Val 122 Ile allele in African Americans in the Arteriosclerosis Risk in Communities (ARIC) and Cardiovascular Health (CHS) Studies. , 2010, American heart journal.

[31]  P. Lavori,et al.  Transthyretin V122I in African Americans with congestive heart failure. , 2006, Journal of the American College of Cardiology.

[32]  C. Scriver,et al.  The Metabolic and Molecular Bases of Inherited Disease, 8th Edition 2001 , 2001, Journal of Inherited Metabolic Disease.

[33]  J. Buxbaum,et al.  Variant-sequence transthyretin (isoleucine 122) in late-onset cardiac amyloidosis in black Americans. , 1997, The New England journal of medicine.

[34]  H. Staunton,et al.  Familial amyloid polyneuropathy (TTR ala 60) in north west Ireland: a clinical, genetic, and epidemiological study. , 1995, Journal of neurology, neurosurgery, and psychiatry.

[35]  D. Firth.  Bias reduction of maximum likelihood estimates , 1993 .

[36]  M. Benson,et al.  Hereditary amyloidosis: description of a new American kindred with late onset cardiomyopathy. Appalachian amyloid. , 1987, Arthritis and rheumatism.

[37]  E. Boerwinkle,et al.  The amyloidogenic V122I transthyretin variant in elderly black Americans. , 2015, The New England journal of medicine.

[38]  Sanjiv J. Shah,et al.  Genotype and Phenotype of Transthyretin Cardiac Amyloidosis , 2022 .