Identification of Genetic Alterations, as Causative Genetic Defects in Long QT Syndrome, Using Next Generation Sequencing Technology

The Next-Generation Sequencing Revolution and Its Impact on Genomics

(2013) Daniel C. Koboldt et al.   CELL

A systematic approach to assessing the clinical significance of genetic variants

(2013) H Duzkale et al.   CLINICAL GENETICS

The long QT syndrome: a transatlantic clinical approach to diagnosis and therapy

(2013) P. J. Schwartz et al.   EUROPEAN HEART JOURNAL

Mild Beckwith-Wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p

(2013) Fiorella Gurrieri et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

HRS/EHRA/APHRS Expert Consensus Statement on the Diagnosis and Management of Patients with Inherited Primary Arrhythmia Syndromes

(2013) Silvia G. Priori et al.   HEART RHYTHM

A Genetic Counselor’s Guide to Using Next-Generation Sequencing in Clinical Practice

(2013) Flavia M. Facio et al.   Journal of Genetic Counseling

Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing

(2012) Eva-Lena Stattin et al.   BMC Cardiovascular Disorders

High prevalence of genetic variants previously associated with LQT syndrome in new exome data

(2012) Lena Refsgaard et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

SgD-CNV, a database for common and rare copy number variants in three Asian populations

(2011) Haiyan Xu et al.   HUMAN MUTATION

Prevalence and Spectrum of Large Deletions or Duplications in the Major Long QT Syndrome-Susceptibility Genes and Implications for Long QT Syndrome Genetic Testing

(2010) David J. Tester et al.   AMERICAN JOURNAL OF CARDIOLOGY

Genetics and cardiac channelopathies

(2010) Oscar Campuzano et al.   GENETICS IN MEDICINE

Screening for Copy Number Variation in Genes Associated With the Long QT Syndrome

(2010) Julien Barc et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Prevalence of the Congenital Long-QT Syndrome

(2009) Peter J. Schwartz et al.   CIRCULATION

Identification of large gene deletions and duplications in KCNQ1 and KCNH2 in patients with long QT syndrome

(2008) Carey-Anne Eddy et al.   HEART RHYTHM