High-resolution analysis of copy number variants in adults with simple-to-moderate congenital heart disease

Phenotypic variability of atypical 22q11.2 deletions not includingTBX1

(2012) Judith M.A. Verhagen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

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

Adults with congenital heart disease: Patients' knowledge and concerns about inheritance

(2011) Klaartje van Engelen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Absence of Association Between Length Variation of an Intronic Region in the NFATC1 Gene and Congenital Heart Defects in a Han Chinese Population

(2011) Hanmin Liu et al.   DNA AND CELL BIOLOGY

A 17q12 chromosomal duplication associated with renal disease and esophageal atresia

(2011) Stanislas Faguer et al.   European Journal of Medical 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

Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease

(2009) Andy Itsara et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review

(2009) Luis Fernández et al.   BMC Medical Genetics

VEGF and RANKL Regulation of NFATc1 in Heart Valve Development

(2009) Michelle D. Combs et al.   CIRCULATION RESEARCH

Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12

(2009) Sandesh Chakravarthy Sreenath Nagamani et al.   EUROPEAN JOURNAL OF HUMAN 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

Touchdown PCR for increased specificity and sensitivity in PCR amplification

(2008) Darren J Korbie et al.   Nature Protocols