This review aimed to update the clinical practice guidelines for managing adults with 22q11.
2 deletion syndrome (22q11. 2DS). The 22q11. 2 Society recruited expert clinicians …

Copy number variants (CNVs) are deletions and duplications of DNA sequence. The most
frequently studied CNVs, which are described in this review, are recurrent CNVs that occur …

Schizophrenia occurs in about one in four individuals with 22q11. 2 deletion syndrome
(22q11. 2DS). The aim of this International Brain and Behavior 22q11. 2DS Consortium …

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

Autism spectrum disorder (ASD) is often grouped with other brain-related phenotypes into a
broader category of neurodevelopmental disorders (NDDs). In clinical practice, providers …

Objective: Both rare copy number variants (CNVs) and common single-nucleotide
polymorphisms (SNPs) contribute to liability to schizophrenia, but their etiological …

Summary 22q11. 2 deletion syndrome is characterised by a well defined microdeletion that
is associated with a high risk of neuropsychiatric disorders, including intellectual disability …

Background Several copy number variants (CNVs) are associated with a high risk of
neurodevelopmental and psychiatric disorders (referred to as ND-CNVs). We aimed to …

Recently, increasing numbers of rare pathogenic genetic variants have been identified that
are associated with variably elevated risks of a range of neurodevelopmental outcomes …

It is unclear how the 22q11. 2 deletion predisposes to psychiatric disease. To study this, we
generated induced pluripotent stem cells from deletion carriers and controls and utilized …