While extensively studied in clinical cohorts, the phenotypic consequences of 22q11. 2 copy-
number variants (CNVs) in the general population remain understudied. To address this …

To the Editor: We read with interest the recent article ''The impact of 22q11. 2 copy-number
variants on human traits in the general population''by Zamariolli et al., 1 given the …

Abstract 22q11. 2 reciprocal copy number variants (CNVs) offer a powerful quasi-
experimental “reverse-genetics” paradigm to elucidate how gene dosage (ie, deletions and …

The 22q11. 2 deletion syndrome (22q11. 2DS) is a congenital malformation and
neuropsychiatric disorder caused by meiotic chromosome rearrangements. One of the goals …

Abstract The 22q11. 2 deletion syndrome (22q11DS), the most common survivable human
genetic deletion disorder, is caused by a hemizygous deletion of 30–40 contiguous genes …

The impact of copy-number variations (CNVs) on complex human traits remains
understudied. We called CNVs in 331,522 UK Biobank participants and performed genome …

Reciprocal chromosomal rearrangements at the 22q11. 2 locus are associated with elevated
risk of neurodevelopmental disorders. The 22q11. 2 deletion confers the highest known …

Abstract The 22q11. 2 locus contains genes critical for brain development. Reciprocal Copy
Number Variations (CNVs) at this locus impact risk for neurodevelopmental and psychiatric …

Probing naturally-occurring, reciprocal genomic copy number variations (CNVs) may help us
understand mechanisms that underlie deviations from typical brain development. Cross …

Copy number variation (CNV) at 7q11. 23 causes distinct disorders with both contrasting
and overlapping phenotypic features of some but not all of the genes encompassed by the …