Hypoplastic Left Heart Syndrome Sequencing Reveals a Novel NOTCH1 Mutation in a Family with Single Ventricle Defects

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

(2016) Wilhelmina S. Kerstjens-Frederikse et al.   GENETICS IN MEDICINE

Compound heterozygous NOTCH1 mutations underlie impaired cardiogenesis in a patient with hypoplastic left heart syndrome

(2015) Jeanne L. Theis et al.   HUMAN GENETICS

A genome-wide association study of seed protein and oil content in soybean

(2014) Eun-Young Hwang et al.   BMC GENOMICS

Multi-perspective quality control of Illumina exome sequencing data using QC3

(2014) Yan Guo et al.   GENOMICS

Directed Differentiation of Patient-Specific Induced Pluripotent Stem Cells Identifies the Transcriptional Repression and Epigenetic Modification of NKX2-5, HAND1, and NOTCH1 in Hypoplastic Left Heart Syndrome

(2014) Junko Kobayashi et al.   PLoS One

Three-stage quality control strategies for DNA re-sequencing data

(2013) Y. Guo et al.   BRIEFINGS IN BIOINFORMATICS

De novo mutations in histone-modifying genes in congenital heart disease

(2013) Samir Zaidi et al.   NATURE

Somatic mutations inNKX2-5,GATA4, andHAND1are not a common cause of tetralogy of Fallot or hypoplastic left heart

(2011) Giorgia Esposito et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

(2011) M Iascone et al.   CLINICAL GENETICS

Search of somatic GATA4 and NKX2.5 gene mutations in sporadic septal heart defects

(2011) Marleny Salazar et al.   European Journal of Medical Genetics

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Updated national birth prevalence estimates for selected birth defects in the United States, 2004-2006

(2010) Samantha E. Parker et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Current Status of Fetal Cardiac Intervention

(2010) Doff B. McElhinney et al.   CIRCULATION

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations

(2009) Paweł Stankiewicz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta and hypoplastic left heart syndrome)

(2009) Kim L McBride et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Hypoplastic left heart syndrome

(2009) David J Barron et al.   LANCET

Notch Signaling in Cardiac Development

(2008) Kyle Niessen et al.   CIRCULATION RESEARCH

A loss-of-function mutation in the binding domain of HAND1 predicts hypoplasia of the human hearts

(2008) S. M. Reamon-Buettner et al.   HUMAN MOLECULAR GENETICS