Copy number variations in neurodevelopmental disorders
Common neurodevelopmental disorders (including autism, speech and language delay,
schizophrenia, epilepsy and intellectual disability) have complex aetiology, which is …
schizophrenia, epilepsy and intellectual disability) have complex aetiology, which is …
[HTML][HTML] Biological overlap of attention-deficit/hyperactivity disorder and autism spectrum disorder: evidence from copy number variants
J Martin, M Cooper, ML Hamshere… - Journal of the American …, 2014 - Elsevier
Objective Attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder
(ASD) often co-occur and share genetic risks. The aim of this analysis was to determine …
(ASD) often co-occur and share genetic risks. The aim of this analysis was to determine …
SZDB: a database for schizophrenia genetic research
Y Wu, YG Yao, XJ Luo - Schizophrenia bulletin, 2017 - academic.oup.com
Schizophrenia (SZ) is a debilitating brain disorder with a complex genetic architecture.
Genetic studies, especially recent genome-wide association studies (GWAS), have identified …
Genetic studies, especially recent genome-wide association studies (GWAS), have identified …
Male-biased autosomal effect of 16p13. 11 copy number variation in neurodevelopmental disorders
Copy number variants (CNVs) at chromosome 16p13. 11 have been associated with a
range of neurodevelopmental disorders including autism, ADHD, intellectual disability and …
range of neurodevelopmental disorders including autism, ADHD, intellectual disability and …
High rate of disease-related copy number variations in childhood onset schizophrenia
K Ahn, N Gotay, TM Andersen, AA Anvari… - Molecular …, 2014 - nature.com
Copy number variants (CNVs) are risk factors in neurodevelopmental disorders, including
autism, epilepsy, intellectual disability (ID) and schizophrenia. Childhood onset …
autism, epilepsy, intellectual disability (ID) and schizophrenia. Childhood onset …
Role of sperm DNA damage in creating de-novo mutations in human offspring: the 'post-meiotic oocyte collusion'hypothesis
RJ Aitken - Reproductive BioMedicine Online, 2022 - Elsevier
Spermatogonial stem cells exhibit a low level of spontaneous mutation that is heavily
impacted by paternal age via mechanisms that appear to involve the aberrant repair of DNA …
impacted by paternal age via mechanisms that appear to involve the aberrant repair of DNA …
Genome wide association studies (GWAS) and copy number variation (CNV) studies of the major psychoses: what have we learnt?
Schizophrenia (SZ) and bipolar disorder (BPD) have high heritabilities and are clinically and
genetically complex. Genome wide association studies (GWAS) and studies of copy number …
genetically complex. Genome wide association studies (GWAS) and studies of copy number …
Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications
Neurodevelopmental disorders (NDs) encompass a spectrum of neuropsychiatric
manifestations. Chromosomal regions 1q21. 1, 3q29, 15q11. 2, 15q13. 3, 16p11. 2, 16p13. 1 …
manifestations. Chromosomal regions 1q21. 1, 3q29, 15q11. 2, 15q13. 3, 16p11. 2, 16p13. 1 …
Penetrance for copy number variants associated with schizophrenia
The discovery of 'high-risk'de novo copy number variants (CNVs) associated with
neuropsychiatric disorders such as schizophrenia offers the opportunity to translate these …
neuropsychiatric disorders such as schizophrenia offers the opportunity to translate these …
Clustering of co‐occurring conditions in autism spectrum disorder during early childhood: A retrospective analysis of medical claims data
Individuals with autism spectrum disorder (ASD) are frequently affected by co‐occurring
medical conditions (COCs), which vary in severity, age of onset, and pathophysiological …
medical conditions (COCs), which vary in severity, age of onset, and pathophysiological …