Functional analysis of candidate genes in 2q13 deletion syndrome implicates FBLN7 and TMEM87B deficiency in congenital heart defects and FBLN7 in craniofacial malformations

Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease

(2012) Rachel Soemedi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Maternal intrachromosomal insertional translocation leads to recurrent 1q21.3q23.3 deletion in two siblings

(2012) Shane C. Quinonez et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The neural crest in cardiac congenital anomalies

(2012) Anna Keyte et al.   DIFFERENTIATION

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

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

A recurrent 1.71 Mb genomic imbalance at 2q13 increases the risk of developmental delay and dysmorphism

(2011) HE Yu et al.   CLINICAL GENETICS

Fibulin-1 is required during cardiac ventricular morphogenesis for versican cleavage, suppression of ErbB2 and Erk1/2 activation, and to attenuate trabecular cardiomyocyte proliferation

(2011) Marion A. Cooley et al.   DEVELOPMENTAL DYNAMICS

Hypoplastic Left Heart Syndrome

(2011) Jeffrey A. Feinstein et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning

(2011) K. A. Fakhro et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Microdeletions and Microduplications in Patients with Congenital Heart Disease and Multiple Congenital Anomalies

(2011) Elizabeth Goldmuntz et al.   Congenital Heart Disease

Reduced versican cleavage due to Adamts9 haploinsufficiency is associated with cardiac and aortic anomalies

(2010) Christine B. Kern et al.   MATRIX BIOLOGY

MicroRNA-mediated integration of haemodynamics and Vegf signalling during angiogenesis

(2010) Stefania Nicoli et al.   NATURE

Factors controlling cardiac neural crest cell migration

(2010) Margaret L. Kirby et al.   Cell Adhesion & Migration

Fibulins: Multiple roles in matrix structures and tissue functions

(2009) S. de Vega et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Segmental duplications mediate novel, clinically relevant chromosome rearrangements

(2009) M. Katharine Rudd et al.   HUMAN MOLECULAR GENETICS

Fibulin-5 initiates epithelial-mesenchymal transition (EMT) and enhances EMT induced by TGF-  in mammary epithelial cells via a MMP-dependent mechanism

(2008) Y.-H. Lee et al.   CARCINOGENESIS

Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray

(2008) Erin L Baldwin et al.   GENETICS IN MEDICINE

PCB126 Exposure Disrupts ZebraFish Ventricular and Branchial but Not Early Neural Crest Development

(2008) Adrian C. Grimes et al.   TOXICOLOGICAL SCIENCES