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 …

[图书][B] The American Psychiatric Association practice guideline for the treatment of patients with schizophrenia

American Psychiatric Association - 2020 - books.google.com
The American Psychiatric Association Practice Guideline for the Treatment of Patients With
Schizophrenia seeks to reduce these substantial psychosocial and public health …

Variable immune deficiency related to deletion size in chromosome 22q11. 2 deletion syndrome

B Crowley, M Ruffner… - American Journal of …, 2018 - Wiley Online Library
The clinical features of 22q11. 2 deletion syndrome include virtually every organ of the body.
This review will focus on the immune system and the differences related to deletion …

Prevalence and incidence of psychotic disorders in 22q11. 2 deletion syndrome: a meta-analysis

U Provenzani, S Damiani, I Bersano… - … Review of Psychiatry, 2022 - Taylor & Francis
Abstract 22q11. 2 deletion syndrome (22q. 11.2 DS) might be one of the strongest genetic
risk factors for psychosis, but robust estimates of prevalence and incidence of psychotic …

Longitudinal perspectives on the psychosis spectrum in 22q11. 2 deletion syndrome

SX Tang, RE Gur - American Journal of Medical Genetics Part …, 2018 - Wiley Online Library
The prevalence of psychotic disorders in individuals with 22q11. 2 Deletion Syndrome
(22q11DS) reaches 25–35% in young adulthood and may provide a neurogenetic model for …

Contribution of schizophrenia polygenic burden to longitudinal phenotypic variance in 22q11. 2 deletion syndrome

M Alver, V Mancini, K Läll, M Schneider… - Molecular …, 2022 - nature.com
Abstract While the recurrent 22q11. 2 deletion is one of the strongest genetic risk factors for
schizophrenia (SCZ), variability of its associated neuropsychiatric endophenotypes reflects …

Modeling and predicting developmental trajectories of neuropsychiatric dimensions associated with copy number variations

N Hiroi, T Yamauchi - International Journal of …, 2019 - academic.oup.com
Copy number variants, such as duplications and hemizygous deletions at chromosomal loci
of up to a few million base pairs, are highly associated with psychiatric disorders …

A polymorphism in the glutamate metabotropic receptor 7 is associated with cognitive deficits in the early phases of psychosis

B Chaumette, SM Sengupta, M Lepage, A Malla… - Schizophrenia …, 2022 - Elsevier
Schizophrenia is an illness characterized by positive symptoms, negative symptoms, and
cognitive impairments. Cognitive impairments occur before the onset of psychosis and could …

Within-family influences on dimensional neurobehavioral traits in a high-risk genetic model

AM Fiksinski, T Heung, M Corral, EJ Breetvelt… - Psychological …, 2022 - cambridge.org
BackgroundGenotype-first and within-family studies can elucidate factors that contribute to
psychiatric illness. Combining these approaches, we investigated the patterns of influence of …

A comprehensive screening of copy number variability in dementia with Lewy bodies

C Kun-Rodrigues, T Orme, S Carmona… - Neurobiology of …, 2019 - Elsevier
The role of genetic variability in dementia with Lewy bodies (DLB) is now indisputable;
however, data regarding copy number variation (CNV) in this disease has been lacking …