Association of the Transthyretin Variant V122I With Polyneuropathy Among Individuals of African Descent

[1]  M. Maurer,et al.  Cardiac Amyloidosis: Evolving Diagnosis and Management: A Scientific Statement From the American Heart Association , 2020, Circulation.

[2]  P. Hawkins,et al.  Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy , 2020, Journal of Neurology.

[3]  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.

[4]  Content Summary , 2019, Space Fault Tree Theory and System Reliability Analysis.

[5]  Julie A. Lynch,et al.  Harmonizing Genetic Ancestry and Self-identified Race/Ethnicity in Genome-wide Association Studies. , 2019, American journal of human genetics.

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

[7]  APOLLO-B: A Study to Evaluate Patisiran in Participants With Transthyretin Amyloidosis With Cardiomyopathy (ATTR Amyloidosis With Cardiomyopathy) , 2019, Case Medical Research.

[8]  Scott M. Williams,et al.  The Missing Diversity in Human Genetic Studies , 2019, Cell.

[9]  J. Gelernter,et al.  Increased Risk of Multiple Outpatient Surgeries in African-American Carriers of Transthyretin Val122Ile Mutation Is Modulated by Non-Coding Variants , 2019, Journal of clinical medicine.

[10]  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.

[11]  O. Suhr.  Commentary to Isabel Conceição et al. early diagnosis 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.

[12]  P. Donnelly,et al.  The UK Biobank resource with deep phenotyping and genomic data , 2018, Nature.

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

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

[15]  S. Solomon,et al.  Inotersen Treatment for Patients with Hereditary Transthyretin Amyloidosis , 2018, The New England journal of medicine.

[16]  P. Donnelly,et al.  Genome-wide genetic data on ~500,000 UK Biobank participants , 2017, bioRxiv.

[17]  C. Sudlow,et al.  Comparison of Sociodemographic and Health-Related Characteristics of UK Biobank Participants With Those of the General Population , 2017, American journal of epidemiology.

[18]  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.

[19]  S. Fullerton,et al.  Genomics is failing on diversity , 2016, Nature.

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

[21]  Scott M. Williams,et al.  The prevalence and distribution of the amyloidogenic transthyretin (TTR) V122I allele in Africa , 2016, Molecular genetics & genomic medicine.

[22]  L. Wain,et al.  Haplotype estimation for biobank scale datasets , 2016, Nature Genetics.

[23]  Mary Brophy,et al.  Million Veteran Program: A mega-biobank to study genetic influences on health and disease. , 2016, Journal of clinical epidemiology.

[24]  B. Bettencourt,et al.  Rapid progression of familial amyloidotic polyneuropathy , 2015, Neurology.

[25]  J. Holton,et al.  Transthyretin V122I amyloidosis with clinical and histological evidence of amyloid neuropathy and myopathy , 2015, Neuromuscular Disorders.

[26]  P. Elliott,et al.  UK Biobank: An Open Access Resource for Identifying the Causes of a Wide Range of Complex Diseases of Middle and Old Age , 2015, PLoS medicine.

[27]  Carson C Chow,et al.  Second-generation PLINK: rising to the challenge of larger and richer datasets , 2014, GigaScience.

[28]  Xuefeng Wang,et al.  Firth logistic regression for rare variant association tests , 2014, Front. Genet..

[29]  M. Hanna.  Novel Drugs Targeting Transthyretin Amyloidosis , 2014, Current Heart Failure Reports.

[30]  P. Cosnay,et al.  Cardiac amyloidosis: updates in diagnosis and management. , 2013, Archives of cardiovascular diseases.

[31]  P. Elliott,et al.  UK Biobank: Current status and what it means for epidemiology , 2012 .

[32]  R. Falk,et al.  Prospective evaluation of the morbidity and mortality of wild-type and V122I mutant transthyretin amyloid cardiomyopathy: the Transthyretin Amyloidosis Cardiac Study (TRACS). , 2012, American heart journal.

[33]  M. Bramerio,et al.  The first Caucasian patient with p.Val122Ile mutated-transthyretin cardiac amyloidosis treated with isolated heart transplantation , 2012, Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis.

[34]  K. Dharmarajan,et al.  Transthyretin Cardiac Amyloidoses in Older North Americans , 2012, Journal of the American Geriatrics Society.

[35]  Peter Donnelly,et al.  A robust clustering algorithm for identifying problematic samples in genome-wide association studies , 2011, Bioinform..

[36]  R. Falk,et al.  Cardiac amyloidosis in African Americans: comparison of clinical and laboratory features of transthyretin V122I amyloidosis and immunoglobulin light chain amyloidosis. , 2009, American heart journal.

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

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

[39]  J. Liepnieks,et al.  Senile cardiac amyloidosis associated with homozygosity for a transthyretin variant (ILE-122). , 1991, The Journal of laboratory and clinical medicine.

[40]  M. Pras,et al.  Systemic senile amyloidosis. Identification of a new prealbumin (transthyretin) variant in cardiac tissue: immunologic and biochemical similarity to one form of familial amyloidotic polyneuropathy. , 1989, The Journal of clinical investigation.