Rationale: Congenital heart disease (CHD) is among the most common birth defects. Most
cases are of unknown pathogenesis. Objective: To determine the contribution of de novo …

Objective: To evaluate previously reported associations of copy number variants (CNVs)
with schizophrenia and to identify additional associations, the authors analyzed CNVs in the …

Epilepsy is one of the most common neurological disorders in humans with a prevalence of
1% and a lifetime incidence of 3%. Several genes have been identified in rare autosomal …

Abstract We identified 15q13. 3 microdeletions encompassing the CHRNA7 gene in 12 of
1,223 individuals with idiopathic generalized epilepsy (IGE), which were not detected in …

Recurrent copy number variations (CNVs) of human 16p11. 2 have been associated with a
variety of developmental/neurocognitive syndromes. In particular, deletion of 16p11. 2 is …

Copy number variation (CNV) has recently gained considerable interest as a source of
genetic variation likely to play a role in phenotypic diversity and evolution. Much effort has …

Attention-deficit/hyperactivity disorder, ADHD, is a common and highly heritable
neuropsychiatric disorder that is seen in children and adults. Although heritability is …

We conducted a genome-wide association study involving 224 cases and 383 controls of
Central European origin to identify susceptibility loci for nonsyndromic cleft lip with or without …

Previous studies have shown that copy-number variants (CNVs) contribute to the risk of
complex developmental phenotypes. However, the contribution of global CNV burden to the …

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