Whole Exome Sequencing, Familial Genomic Triangulation, and Systems Biology Converge to Identify a Novel Nonsense Mutation inTAB2-encoded TGF-beta Activated Kinase 1 in a Child with Polyvalvular Syndrome-Reference-Cited by-同舟云学术

Whole Exome Sequencing, Familial Genomic Triangulation, and Systems Biology Converge to Identify a Novel Nonsense Mutation inTAB2-encoded TGF-beta Activated Kinase 1 in a Child with Polyvalvular Syndrome

Published:2016-07-25 Issue:5 Volume:11 Page:452-461
ISSN:1747-079X
Container-title:Congenital Heart Disease
language:en
Short-container-title:Congenital Heart Disease

Author:

Ackerman Jaeger P.¹,Smestad John A.²,Tester David J.¹,Qureshi Muhammad Y.¹^ORCID,Crabb Beau A.³,Mendelsohn Nancy J.³,Ackerman Michael J.¹

Affiliation:

1. Departments of Cardiovascular Diseases (Division of Heart Rhythm Services), Pediatrics (Division of Pediatric Cardiology), and Molecular Pharmacology & Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory); Mayo Clinic; Rochester Minn USA

2. Mayo Clinic Medical Scientist Training Program, Rochester, Minn, USA

3. Department of Medical Genetics, Children's Hospital and Clinics of Minnesota, Minneapolis, Minn, USA

Funder

Mayo Clinic

Publisher

Computers, Materials and Continua (Tech Science Press)

Subject

Cardiology and Cardiovascular Medicine,Radiology Nuclear Medicine and imaging,General Medicine,Surgery,Pediatrics, Perinatology, and Child Health

Reference24 articles.

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2. The incidence of congenital heart disease;Hoffman;J Am Coll Cardiol.,2002

3. Executive summary: heart disease and stroke statistics - 2014 update: a report from the American Heart Association;Go;Circulation.,2014