[HTML][HTML] Updated clinical practice recommendations for managing children with 22q11. 2 deletion syndrome

S Oskarsdottir, E Boot, TB Crowley, JCY Loo… - Genetics in …, 2023 - Elsevier
This review aimed to update the clinical practice guidelines for managing children and
adolescents with 22q11. 2 deletion syndrome (22q11. 2DS). The 22q11. 2 Society, the …

The importance of a developmental perspective in Psychiatry: what do recent genetic-epidemiological findings show?

A Thapar, L Riglin - Molecular psychiatry, 2020 - nature.com
There is growing appreciation that a developmental perspective is helpful in Psychiatry.
However, clinical practice and research, especially in an era of very large sample sizes …

Genomic insights into the overlap between psychiatric disorders: implications for research and clinical practice

JL Doherty, MJ Owen - Genome medicine, 2014 - Springer
Psychiatric disorders such as schizophrenia, bipolar disorder, major depressive disorder,
attention-deficit/hyperactivity disorder and autism spectrum disorder are common and result …

Psychiatric disorders in children with 16p11. 2 deletion and duplication

M Niarchou, SJRA Chawner, JL Doherty… - Translational …, 2019 - nature.com
Deletion and duplication of 16p11. 2 (BP4–BP5) have been associated with an increased
risk of intellectual disability and psychiatric disorder. This is the first study to compare the …

The implications of the shared genetics of psychiatric disorders

MC O'Donovan, MJ Owen - Nature medicine, 2016 - nature.com
Recent genomic studies have revealed the highly polygenic nature of psychiatric disorders,
including schizophrenia, bipolar disorder and major depressive disorder. Many of the …

Gene–environment interplay in the etiology of psychosis

A Zwicker, EM Denovan-Wright, R Uher - Psychological medicine, 2018 - cambridge.org
Schizophrenia and other types of psychosis incur suffering, high health care costs and loss
of human potential, due to the combination of early onset and poor response to treatment …

Genotype–phenotype associations in children with copy number variants associated with high neuropsychiatric risk in the UK (IMAGINE-ID): a case-control cohort …

SJRA Chawner, MJ Owen, P Holmans… - The Lancet …, 2019 - thelancet.com
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 …

[HTML][HTML] 22q11. 2 Deletion Syndrome

DM McDonald-McGinn, HS Hain, BS Emanuel… - 2020 - europepmc.org
Individuals with 22q11. 2 deletion syndrome (22q11. 2DS) can present with a wide range of
features that are highly variable, even within families. The major clinical manifestations of …

A genetics-first approach to understanding autism and schizophrenia spectrum disorders: the 22q11. 2 deletion syndrome

AM Fiksinski, GD Hoftman, JAS Vorstman… - Molecular …, 2023 - nature.com
Recently, increasing numbers of rare pathogenic genetic variants have been identified that
are associated with variably elevated risks of a range of neurodevelopmental outcomes …

Genes to mental health (G2MH): a framework to map the combined effects of rare and common variants on dimensions of cognition and psychopathology

S Jacquemont, G Huguet, M Klein… - American Journal of …, 2022 - Am Psychiatric Assoc
Rare genomic disorders (RGDs) confer elevated risk for neurodevelopmental psychiatric
disorders. In this era of intense genomics discoveries, the landscape of RGDs is rapidly …