The contribution of copy number variants to psychiatric symptoms and cognitive ability
Copy number variants (CNVs) are deletions and duplications of DNA sequence. The most
frequently studied CNVs, which are described in this review, are recurrent CNVs that occur …
frequently studied CNVs, which are described in this review, are recurrent CNVs that occur …
Assessing the evidence for shared genetic risks across psychiatric disorders and traits
Genetic influences play a significant role in risk for psychiatric disorders, prompting
numerous endeavors to further understand their underlying genetic architecture. In this …
numerous endeavors to further understand their underlying genetic architecture. In this …
[HTML][HTML] A cross-disorder dosage sensitivity map of the human genome
Rare copy-number variants (rCNVs) include deletions and duplications that occur
infrequently in the global human population and can confer substantial risk for disease. In …
infrequently in the global human population and can confer substantial risk for disease. In …
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
We are performing whole-genome sequencing of families with autism spectrum disorder
(ASD) to build a resource (MSSNG) for subcategorizing the phenotypes and underlying …
(ASD) to build a resource (MSSNG) for subcategorizing the phenotypes and underlying …
Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population
Almost all genetic risk factors for autism spectrum disorders (ASDs) can be found in the
general population, but the effects of this risk are unclear in people not ascertained for …
general population, but the effects of this risk are unclear in people not ascertained for …
The copy number variation landscape of congenital anomalies of the kidney and urinary tract
M Verbitsky, R Westland, A Perez, K Kiryluk, Q Liu… - Nature …, 2019 - nature.com
Congenital anomalies of the kidney and urinary tract (CAKUT) are a major cause of pediatric
kidney failure. We performed a genome-wide analysis of copy number variants (CNVs) in …
kidney failure. We performed a genome-wide analysis of copy number variants (CNVs) in …
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield
S Anazi, S Maddirevula, E Faqeih, H Alsedairy… - Molecular …, 2017 - nature.com
Intellectual disability (ID) is a measurable phenotypic consequence of genetic and
environmental factors. In this study, we prospectively assessed the diagnostic yield of …
environmental factors. In this study, we prospectively assessed the diagnostic yield of …
Defining the effect of the 16p11. 2 duplication on cognition, behavior, and medical comorbidities
Importance The 16p11. 2 BP4-BP5 duplication is the copy number variant most frequently
associated with autism spectrum disorder (ASD), schizophrenia, and comorbidities such as …
associated with autism spectrum disorder (ASD), schizophrenia, and comorbidities such as …
Cognitive performance among carriers of pathogenic copy number variants: analysis of 152,000 UK Biobank subjects
Abstract Background The UK Biobank is a unique resource for biomedical research, with
extensive phenotypic and genetic data on half a million adults from the general population …
extensive phenotypic and genetic data on half a million adults from the general population …
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants
Purpose To assess the contribution of rare variants in the genetic background toward
variability of neurodevelopmental phenotypes in individuals with rare copy-number variants …
variability of neurodevelopmental phenotypes in individuals with rare copy-number variants …