[HTML][HTML] 16p13. 11 duplication is a risk factor for a wide spectrum of neuropsychiatric disorders

A Ramalingam, XG Zhou, SD Fiedler… - Journal of human …, 2011 - nature.com
Abstract The chromosome 16p13. 11 heterozygous deletion is associated with a diverse
array of neuropsychiatric disorders including intellectual disabilities, autism, schizophrenia …

A neurogenetic model for the study of schizophrenia spectrum disorders: the International 22q11. 2 Deletion Syndrome Brain Behavior Consortium

RE Gur, AS Bassett, DM McDonald-McGinn… - Molecular …, 2017 - nature.com
Rare copy number variants contribute significantly to the risk for schizophrenia, with the
22q11. 2 locus consistently implicated. Individuals with the 22q11. 2 deletion syndrome …

Convergent and distributed effects of the schizophrenia-associated 3q29 deletion on the human neural transcriptome

E Sefik, RH Purcell, M Merritt-Garza, S Karne… - bioRxiv, 2020 - biorxiv.org
Abstract The 1.6 Mb 3q29 deletion (3q29Del) confers> 40-fold increased risk for
schizophrenia (SZ) and is also a risk factor for intellectual disability (ID) and autism spectrum …

A human-specific AS3MT isoform and BORCS7 are molecular risk factors in the 10q24.32 schizophrenia-associated locus

M Li, AE Jaffe, RE Straub, R Tao, JH Shin, Y Wang… - Nature medicine, 2016 - nature.com
Genome-wide association studies (GWASs) have reported many single nucleotide
polymorphisms (SNPs) associated with psychiatric disorders, but knowledge is lacking …

[HTML][HTML] Differential DNA methylation at birth associated with mental disorder in individuals with 22q11. 2 deletion syndrome

A Starnawska, CS Hansen, T Sparsø, W Mazin… - Translational …, 2017 - nature.com
Abstract Individuals with 22q11. 2 deletion syndrome (DS) have an increased risk of
comorbid mental disorders including schizophrenia, attention deficit hyperactivity disorder …

Neuropsychiatric phenotype in relation to gene variants in the hemizygous allele in 3q29 deletion carriers: a case series

EA Malt, K Juhasz, A Frengen… - … Genetics & Genomic …, 2019 - Wiley Online Library
Background Genetic risk variants in the hemizygous allele may influence neuropsychiatric
manifestations and clinical course in 3q29 deletion carriers. Methods In‐depth phenotypic …

[HTML][HTML] Two novel mouse models mimicking minor deletions in 22q11. 2 deletion syndrome revealed the contribution of each deleted region to psychiatric disorders

R Saito, C Miyoshi, M Koebis, I Kushima, K Nakao… - Molecular brain, 2021 - Springer
Abstract 22q11. 2 deletion syndrome (22q11. 2DS) is a disorder caused by the segmental
deletion of human chromosome 22. This chromosomal deletion is known as high genetic …

[HTML][HTML] Dissecting molecular genetic mechanisms of 1q21. 1 CNV in neuropsychiatric disorders

J Yoon, Y Mao - International journal of molecular sciences, 2021 - mdpi.com
Pathogenic copy number variations (CNVs) contribute to the etiology of
neurodevelopmental/neuropsychiatric disorders (NDs). Increased CNV burden has been …

[HTML][HTML] The 22q11. 2 region regulates presynaptic gene-products linked to schizophrenia

R Nehme, O Pietiläinen, M Artomov… - Nature …, 2022 - nature.com
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 …

Molecular mechanisms in 22q11 deletion syndrome

NM Williams - Schizophrenia bulletin, 2011 - academic.oup.com
It is now well recognized that as well as having a characteristic facial dysmorphology and a
range of congenital abnormalities, individuals with chromosome 22q11 deletion syndrome …