The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects

Identification ofTBX5mutations in a series of 94 patients with Tetralogy of Fallot

(2014) Anwar Baban et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Targeted Next-Generation Sequencing Identifies Pathogenic Variants in Familial Congenital Heart Disease

(2014) Gillian M. Blue et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

The phenotypic spectrum ofZIC3mutations includes isolated d-transposition of the great arteries and double outlet right ventricle

(2013) Lisa C.A. D'Alessandro et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Improved genetic testing for monogenic diabetes using targeted next-generation sequencing

(2013) S. Ellard et al.   DIABETOLOGIA

Congenital Heart Defects in Patients with Deletions Upstream ofSOX9

(2013) Marta Sanchez-Castro et al.   HUMAN MUTATION

GATA5 loss-of-Function Mutations Underlie Tetralogy of Fallot

(2013) Dong Wei et al.   International Journal of Medical Sciences

Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing

(2013) Xia Wang et al.   JOURNAL OF MEDICAL GENETICS

Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics

(2013) Olaf R F Mook et al.   JOURNAL OF MEDICAL GENETICS

Genetic Analysis of Essential Cardiac Transcription Factors in 256 Patients With Non-Syndromic Congenital Heart Defects

(2012) Kazuki Kodo et al.   CIRCULATION JOURNAL

NPHP4 Variants Are Associated With Pleiotropic Heart Malformations

(2012) Vanessa M. French et al.   CIRCULATION RESEARCH

Coordinating Tissue Interactions: Notch Signaling in Cardiac Development and Disease

(2012) José Luis de la Pompa et al.   DEVELOPMENTAL CELL

A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot

(2012) Valentina Guida et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

TBX5 intragenic duplication: a family with an atypical Holt–Oram syndrome phenotype

(2012) Chirag Patel et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Extending the phenotypes associated withDICER1mutations

(2011) William D. Foulkes et al.   HUMAN MUTATION

Cardiac Alpha-Myosin (MYH6) Is the Predominant Sarcomeric Disease Gene for Familial Atrial Septal Defects

(2011) Maximilian G. Posch et al.   PLoS One

Recurrence of Discordant Congenital Heart Defects in Families

(2010) Nina �yen et al.   Circulation-Cardiovascular Genetics

α-Cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects

(2010) Javier T. Granados-Riveron et al.   HUMAN MOLECULAR GENETICS

The changing epidemiology of congenital heart disease

(2010) Teun van der Bom et al.   Nature Reviews Cardiology

Collaboratively charting the gene-to-phenotype network of human congenital heart defects

(2010) Roland Barriot et al.   Genome Medicine

Recurrence of Congenital Heart Defects in Families

(2009) Nina Øyen et al.   CIRCULATION

NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling

(2008) K. L. McBride et al.   HUMAN MOLECULAR GENETICS