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

The severe end of the spectrum: Hypoplastic left heart in Potocki-Lupski syndrome

(2011) Amarilis Sanchez-Valle et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genotype–phenotype correlations in a new case of 8p23.1 deletion and review of the literature

(2010) Lucia Ballarati et al.   European Journal of Medical Genetics

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

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

High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications

(2009) T. H. Shaikh et al.   GENOME RESEARCH

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

(2009) Steven C Greenway et al.   NATURE GENETICS

Do Neonates with Genetic Abnormalities Have an Increased Morbidity and Mortality following Cardiac Surgery?

(2009) Janet M. Simsic et al.   Congenital Heart Disease

Chromosome 22q11.2 microdeletion in children with conotruncal heart defects: frequency, associated cardiovascular anomalies, and outcome following cardiac surgery

(2008) Lidia Ziolkowska et al.   EUROPEAN JOURNAL OF PEDIATRICS

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

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

Rare chromosomal deletions and duplications increase risk of schizophrenia

(2008) Jennifer L. Stone et al.   NATURE

Large recurrent microdeletions associated with schizophrenia

(2008) Hreinn Stefansson et al.   NATURE