[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 …
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 …
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 …
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 …
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 …
including schizophrenia, bipolar disorder and major depressive disorder. Many of the …
Gene–environment interplay in the etiology of psychosis
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 …
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 …
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 …
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 …
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
Recently, increasing numbers of rare pathogenic genetic variants have been identified that
are associated with variably elevated risks of a range of neurodevelopmental outcomes …
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 …
disorders. In this era of intense genomics discoveries, the landscape of RGDs is rapidly …