Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families

Human Disease Modeling Reveals Integrated Transcriptional and Epigenetic Mechanisms of NOTCH1 Haploinsufficiency

(2015) Christina V. Theodoris et al.   CELL

RecessiveMYH6Mutations in Hypoplastic Left Heart With Reduced Ejection FractionCLINICAL PERSPECTIVE

(2015) Jeanne L. Theis et al.   Circulation-Cardiovascular Genetics

Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams–Oliver Syndrome With Variable Cardiac AnomaliesCLINICAL PERSPECTIVE

(2015) Laura Southgate et al.   Circulation-Cardiovascular Genetics

RecessiveMYH6Mutations in Hypoplastic Left Heart With Reduced Ejection FractionCLINICAL PERSPECTIVE

(2015) Jeanne L. Theis et al.   Circulation-Cardiovascular Genetics

Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams–Oliver Syndrome With Variable Cardiac AnomaliesCLINICAL PERSPECTIVE

(2015) Laura Southgate et al.   Circulation-Cardiovascular Genetics

Mutations in NOTCH1 Cause Adams-Oliver Syndrome

(2014) Anna-Barbara Stittrich et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Survival Outcomes Following Norwood Procedure for Hypoplastic Left Heart

(2014) Jeffrey Shuhaiber et al.   PEDIATRIC CARDIOLOGY

Sequencing of NOTCH1, GATA5, TGFBR1 and TGFBR2genes in familial cases of bicuspid aortic valve

(2013) Ilenia Foffa et al.   BMC Medical Genetics

The Congenital Heart Disease Genetic Network Study

(2013) et al.   CIRCULATION RESEARCH

Notch signaling at a glance

(2013) K. Hori et al.   JOURNAL OF CELL SCIENCE

Mutations in the NOTCH pathway regulator MIB1 cause left ventricular noncompaction cardiomyopathy

(2013) Guillermo Luxán et al.   NATURE MEDICINE

Cardiac anomalies in Axenfeld-Rieger syndrome due to a novelFOXC1mutation

(2012) Karen W. Gripp et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Nonsynonymous variants in theSMAD6gene predispose to congenital cardiovascular malformation

(2012) Huay L. Tan et al.   HUMAN MUTATION

Rare non-synonymous variations in the transcriptional activation domains of GATA5 in bicuspid aortic valve disease

(2012) Ratnasari Padang et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Rare Copy Number Variants Contribute to Congenital Left-Sided Heart Disease

(2012) Marc-Phillip Hitz et al.   PLoS Genetics

Identification of de novo mutations and rare variants in hypoplastic left heart syndrome

(2011) M Iascone et al.   CLINICAL GENETICS

Left ventricular outflow tract obstruction: should cardiac screening be offered to first-degree relatives?

(2011) W. S. Kerstjens-Frederikse et al.   HEART

Incidence of Aortic Complications in Patients With Bicuspid Aortic Valves

(2011) Hector I. Michelena et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Population-Based Analysis of Survival for Hypoplastic Left Heart Syndrome

(2011) Jennifer C. Hirsch et al.   JOURNAL OF PEDIATRICS

Inhibitory Role of Notch1 in Calcific Aortic Valve Disease

(2011) Asha Acharya et al.   PLoS One

Genetic factors in non-syndromic congenital heart malformations

(2010) MW Wessels et al.   CLINICAL GENETICS

Integration of a Notch-dependent mesenchymal gene program and Bmp2-driven cell invasiveness regulates murine cardiac valve formation

(2010) Luis Luna-Zurita et al.   JOURNAL OF CLINICAL INVESTIGATION

Bicuspid Aortic Valve Disease

(2010) Samuel C. Siu et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot

(2009) Steven C Greenway et al.   NATURE GENETICS

Jacobsen syndrome

(2009) Teresa Mattina et al.   Orphanet Journal of Rare Diseases

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

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