MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus

De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea

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Genetic basis of congenital cardiovascular malformations

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Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

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Aortic Dilatation in Patients with Bicuspid Aortic Valve

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Rare GATA5 sequence variants identified in individuals with bicuspid aortic valve

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p53 suppression partially rescues the mutant phenotype in mouse models of DiGeorge syndrome

(2014) Cinzia Caprio et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Of mice and men: molecular genetics of congenital heart disease

(2013) Troels Askhøj Andersen et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development

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Distal myopathies: from clinical classification to molecular understanding

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Noonan syndrome

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

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Coarctation of the aorta: From fetal life to adulthood

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Functional Null Mutations in the Gonosomal Homologue Gene TBL1Y are Associated with Non-Syndromic Coarctation of the Aorta

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Coordinating Tissue Interactions: Notch Signaling in Cardiac Development and Disease

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Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities

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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

Deficient Signaling via Alk2 (Acvr1) Leads to Bicuspid Aortic Valve Development

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Genetics of Patent Ductus Arteriosus Susceptibility and Treatment

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Association of common variants in ERBB4 with congenital left ventricular outflow tract obstruction defects

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GATA5 interacts with GATA4 and GATA6 in outflow tract development

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A Tbx1-Six1/Eya1-Fgf8 genetic pathway controls mammalian cardiovascular and craniofacial morphogenesis

(2011) Chaoshe Guo et al.   JOURNAL OF CLINICAL INVESTIGATION

Loss of Gata5 in mice leads to bicuspid aortic valve

(2011) Brigitte Laforest et al.   JOURNAL OF CLINICAL INVESTIGATION

A Heart-Hand Syndrome Gene: Tfap2b Plays a Critical Role in the Development and Remodeling of Mouse Ductus Arteriosus and Limb Patterning

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NOTCH1 missense alleles associated with left ventricular outflow tract defects exhibit impaired receptor processing and defective EMT

(2010) Maurisa F. Riley et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Cardiac neural crest orchestrates remodeling and functional maturation of mouse semilunar valves

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Bicuspid Aortic Valve Disease

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

An endocardial pathway involving Tbx5, Gata4, and Nos3 required for atrial septum formation

(2010) M. Nadeau et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Autosomal-Dominant Distal Myopathy Associated with a Recurrent Missense Mutation in the Gene Encoding the Nuclear Matrix Protein, Matrin 3

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Characterization of Apparently Balanced Chromosomal Rearrangements from the Developmental Genome Anatomy Project

(2008) Anne W. Higgins et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

Analyzing real-time PCR data by the comparative CT method

(2008) Thomas D Schmittgen et al.   Nature Protocols