Of mice and men: molecular genetics of congenital heart disease

Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome

(2013) Yoko Aoki et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A unified model for left–right asymmetry? Comparison and synthesis of molecular models of embryonic laterality

(2013) Laura N. Vandenberg et al.   DEVELOPMENTAL BIOLOGY

Zic3 is required in the migrating primitive streak for node morphogenesis and left-right patterning

(2013) M. J. Sutherland et al.   HUMAN MOLECULAR GENETICS

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

(2013) Seema R. Lalani et al.   HUMAN MOLECULAR GENETICS

Genetic Abnormalities inFOXP1Are Associated with Congenital Heart Defects

(2013) Sheng-Wei Chang et al.   HUMAN MUTATION

Endothelial nitric oxide signaling regulates Notch1 in aortic valve disease

(2013) Kevin Bosse et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

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

(2013) Samir Zaidi et al.   NATURE

A genome-wide association study identifies two risk loci for congenital heart malformations in Han Chinese populations

(2013) Zhibin Hu et al.   NATURE GENETICS

Endocardial to Myocardial Notch-Wnt-Bmp Axis Regulates Early Heart Valve Development

(2013) Yidong Wang et al.   PLoS One

Integration of Nodal and BMP Signals in the Heart Requires FoxH1 to Create Left–Right Differences in Cell Migration Rates That Direct Cardiac Asymmetry

(2013) Kari F. Lenhart et al.   PLoS Genetics

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

Screening of congenital heart disease patients using multiplex ligation-dependent probe amplification: Early diagnosis of syndromic patients

(2012) Karina Meden Sørensen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

(2012) Michael E. Talkowski et al.   CELL

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

New developments in the second heart field

(2012) Stéphane Zaffran et al.   DIFFERENTIATION

The neural crest in cardiac congenital anomalies

(2012) Anna Keyte et al.   DIFFERENTIATION

Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities

(2012) Seema R Lalani et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Nonsynonymous variants in theSMAD6gene predispose to congenital cardiovascular malformation

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

Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype

(2012) Marcella Zollino et al.   NATURE GENETICS

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome

(2012) David A Koolen et al.   NATURE GENETICS

Submicroscopic Chromosomal Copy Number Variations Identified in Children With Hypoplastic Left Heart Syndrome

(2012) Ashleigh R. Payne et al.   PEDIATRIC CARDIOLOGY

Human gene copy number spectra analysis in congenital heart malformations

(2012) Aoy Tomita-Mitchell et al.   PHYSIOLOGICAL GENOMICS

Genetic and environmental risk factors in congenital heart disease functionally converge in protein networks driving heart development

(2012) K. Lage et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Rare Copy Number Variations in Adults with Tetralogy of Fallot Implicate Novel Risk Gene Pathways

(2012) Candice K. Silversides et al.   PLoS Genetics

Congenital Heart Disease–Causing Gata4 Mutation Displays Functional Deficits In Vivo

(2012) Chaitali Misra et al.   PLoS Genetics

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

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

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome

(2011) Mark C. Hannibal et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Epigenetics and Cardiovascular Development

(2011) Ching-Pin Chang et al.   Annual Review of Physiology

Mechanisms of T-box gene function in the developing heart

(2011) F. Greulich et al.   CARDIOVASCULAR RESEARCH

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

(2011) M Iascone et al.   CLINICAL GENETICS

Challenges of Interpreting Copy Number Variation in Syndromic and Non-Syndromic Congenital Heart Defects

(2011) J. Breckpot et al.   CYTOGENETIC AND GENOME RESEARCH

Myocardial Tbx20 regulates early atrioventricular canal formation and endocardial epithelial–mesenchymal transition via Bmp2

(2011) Xiaoqiang Cai et al.   DEVELOPMENTAL BIOLOGY

Two novel mutations of the IRX4 gene in patients with congenital heart disease

(2011) Zhi Cheng et al.   HUMAN GENETICS

Loss of Cited2 causes congenital heart disease by perturbing left–right patterning of the body axis

(2011) Kylie Lopes Floro et al.   HUMAN MOLECULAR GENETICS

Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls

(2011) Rachel Soemedi et al.   HUMAN MOLECULAR GENETICS

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

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

NOTCH2mutations in Alagille syndrome

(2011) Binita Maya Kamath et al.   JOURNAL OF MEDICAL GENETICS

Genotype–phenotype correlation in 440 patients with NPHP-related ciliopathies

(2011) Moumita Chaki et al.   KIDNEY INTERNATIONAL

Familial Nonsyndromic Patent Ductus Arteriosus Caused by Mutations in TFAP2B

(2011) Yi-Wei Chen et al.   PEDIATRIC CARDIOLOGY

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

(2011) Feng Zhao et al.   PLoS One

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

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

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

Transcription factor genes Smad4 and Gata4 cooperatively regulate cardiac valve development

(2011) I. P. Moskowitz 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

The Cardiac Transcription Network Modulated by Gata4, Mef2a, Nkx2.5, Srf, Histone Modifications, and MicroRNAs

(2011) Jenny Schlesinger et al.   PLoS Genetics

Haploinsufficiency of TAB2 Causes Congenital Heart Defects in Humans

(2010) Bernard Thienpont et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Haploinsufficiency of HDAC4 Causes Brachydactyly Mental Retardation Syndrome, with Brachydactyly Type E, Developmental Delays, and Behavioral Problems

(2010) Stephen R. Williams et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype

(2010) Simone Martinelli et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of a Recurrent Microdeletion at 17q23.1q23.2 Flanked by Segmental Duplications Associated with Heart Defects and Limb Abnormalities

(2010) Blake C. Ballif et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genotype-phenotype correlation in eight new patients with a deletion encompassing 2q31.1

(2010) Diana Mitter et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Heterogeneity of Genetic Modifiers Ensures Normal Cardiac Development

(2010) Julia B. Winston et al.   CIRCULATION

Mutations in the Sarcomere Gene MYH7 in Ebstein Anomaly

(2010) Alex V. Postma et al.   Circulation-Cardiovascular Genetics

The MSL complex: X chromosome and beyond

(2010) Corey Laverty et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Characterization and In Vivo Pharmacological Rescue of a Wnt2-Gata6 Pathway Required for Cardiac Inflow Tract Development

(2010) Ying Tian et al.   DEVELOPMENTAL CELL

Jarid2 is among a set of genes differentially regulated by Nkx2.5 during outflow tract morphogenesis

(2010) Jeremy L. Barth et al.   DEVELOPMENTAL DYNAMICS

Phenotypic manifestations of copy number variation in chromosome 16p13.11

(2010) Sandesh C Sreenath Nagamani et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation

(2010) Christèle Dubourg et al.   European Journal of Medical Genetics

Dysregulation of the PDGFRA gene causes inflow tract anomalies including TAPVR: integrating evidence from human genetics and model organisms

(2010) Steven B. Bleyl et al.   HUMAN MOLECULAR 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

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

Array Comparative Genomic Hybridization as a Diagnostic Tool for Syndromic Heart Defects

(2010) Jeroen Breckpot et al.   JOURNAL OF PEDIATRICS

Potocki-Lupski Syndrome: A Microduplication Syndrome Associated with Oropharyngeal Dysphagia and Failure to Thrive

(2010) Claudia Soler-Alfonso et al.   JOURNAL OF PEDIATRICS

Dissecting spatio-temporal protein networks driving human heart development and related disorders

(2010) Kasper Lage et al.   Molecular Systems Biology

CHD7 cooperates with PBAF to control multipotent neural crest formation

(2010) Ruchi Bajpai et al.   NATURE

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS

Williams–Beuren Syndrome

(2010) Barbara R. Pober   NEW ENGLAND JOURNAL OF MEDICINE

Identification of GATA6 Sequence Variants in Patients With Congenital Heart Defects

(2010) Meenakshi Maitra et al.   PEDIATRIC RESEARCH

Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia

(2009) Margaret J. Wat et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

New Findings concerning Cardiovascular Manifestations emerging from Long-term Follow-up of 150 patients with the Williams-Beuren-Beuren syndrome

(2009) Alessia Del Pasqua et al.   CARDIOLOGY IN THE YOUNG

Dominant-Negative ALK2 Allele Associates With Congenital Heart Defects

(2009) Kelly A. Smith et al.   CIRCULATION

The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation

(2009) William E Tidyman et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Multiple congenital malformations of Wolf-Hirschhorn syndrome are recapitulated in Fgfrl1 null mice

(2009) C. Catela et al.   Disease Models & Mechanisms

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

Microduplication 22q11.2: A new chromosomal syndrome

(2009) Marie-France Portnoï   European Journal of Medical Genetics

Ethnicity, sex, and the incidence of congenital heart defects: a report from the National Down Syndrome Project

(2009) Sallie B Freeman et al.   GENETICS IN MEDICINE

Genomic distribution of CHD7 on chromatin tracks H3K4 methylation patterns

(2009) M. P. Schnetz et al.   GENOME RESEARCH

Familial transposition of the great arteries caused by multiple mutations in laterality genes

(2009) A. De Luca et al.   HEART

Genetic variation of SAL-Like 4 (SALL4) in ventricular septal defect

(2009) Binbin Wang et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome

(2009) B. Thienpont et al.   JOURNAL OF MEDICAL GENETICS

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

(2009) B W M van Bon et al.   JOURNAL OF MEDICAL GENETICS

Physical Interaction between TBX5 and MEF2C Is Required for Early Heart Development

(2009) T. K. Ghosh et al.   MOLECULAR AND CELLULAR BIOLOGY

A histone H3 lysine 36 trimethyltransferase links Nkx2-5 to Wolf–Hirschhorn syndrome

(2009) Keisuke Nimura et al.   NATURE

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

(2009) Viviana Cordeddu et al.   NATURE GENETICS

A restricted spectrum of NRAS mutations causes Noonan syndrome

(2009) Ion C Cirstea et al.   NATURE GENETICS

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

(2009) Steven C Greenway et al.   NATURE GENETICS

Insights into the Pathogenesis and Genetic Background of Patency of the Ductus Arteriosus

(2009) Regina Bökenkamp et al.   Neonatology

Tbx1 Regulates the BMP-Smad1 Pathway in a Transcription Independent Manner

(2009) F. Gabriella Fulcoli et al.   PLoS One

Distinct function of 2 chromatin remodeling complexes that share a common subunit, Williams syndrome transcription factor (WSTF)

(2009) K. Yoshimura et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling

(2009) K. Kodo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Reduced NODAL Signaling Strength via Mutation of Several Pathway Members Including FOXH1 Is Linked to Human Heart Defects and Holoprosencephaly

(2008) Erich Roessler et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Update on the clinical features and natural history of Wolf-Hirschhorn (4p-) syndrome: Experience with 87 patients and recommendations for routine health supervision

(2008) Agatino Battaglia et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

ACC/AHA 2008 Guidelines for the Management of Adults With Congenital Heart Disease

(2008) Carole A. Warnes et al.   CIRCULATION

Molecular implementation and physiological roles for histone H3 lysine 4 (H3K4) methylation

(2008) Ali Shilatifard   CURRENT OPINION IN CELL BIOLOGY

Identification of downstream genetic pathways of Tbx1 in the second heart field

(2008) Jun Liao et al.   DEVELOPMENTAL BIOLOGY

Interaction of Gata4 and Gata6 with Tbx5 is critical for normal cardiac development

(2008) Meenakshi Maitra et al.   DEVELOPMENTAL BIOLOGY

Genetic counseling for the 22q11.2 deletion

(2008) Donna M. McDonald-McGinn et al.   Developmental Disabilities Research Reviews

GATA4 mutations in 486 Chinese patients with congenital heart disease

(2008) Weimin Zhang et al.   European Journal of Medical Genetics

Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes

(2008) Zhishuo Ou et al.   GENETICS IN MEDICINE

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

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

Characterization of TBX20 in human hearts and its regulation by TFAP2

(2008) Stefanie Hammer et al.   JOURNAL OF CELLULAR BIOCHEMISTRY

Prevalence of Congenital Heart Defects in Metropolitan Atlanta, 1998-2005

(2008) Mark D. Reller et al.   JOURNAL OF PEDIATRICS

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

(2008) Andrew J Sharp et al.   NATURE GENETICS

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

(2008) Nicola Brunetti-Pierri et al.   NATURE GENETICS

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

(2008) Heather C. Mefford et al.   NEW ENGLAND JOURNAL OF MEDICINE

Cryptic Chromosomal Abnormalities Identified in Children With Congenital Heart Disease

(2008) Ashleigh A Richards et al.   PEDIATRIC RESEARCH

Further Delineation of Deletion 1p36 Syndrome in 60 Patients: A Recognizable Phenotype and Common Cause of Developmental Delay and Mental Retardation

(2008) A. Battaglia et al.   PEDIATRICS