Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
Some individuals with autism spectrum disorder (ASD) carry functional mutations rarely
observed in the general population. We explored the genes disrupted by these variants from …
observed in the general population. We explored the genes disrupted by these variants from …
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 …
A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex
The genetic etiology of autism spectrum disorder (ASD) is multifactorial, but how
combinations of genetic factors determine risk is unclear. In a large family sample, we show …
combinations of genetic factors determine risk is unclear. In a large family sample, we show …
[HTML][HTML] A matter of space and time: Emerging roles of disease-associated proteins in neural development
G Panagiotakos, SP Pasca - Neuron, 2022 - cell.com
Recent genetic studies of neurodevelopmental disorders point to synaptic proteins and ion
channels as key contributors to disease pathogenesis. Although many of these proteins …
channels as key contributors to disease pathogenesis. Although many of these proteins …
[HTML][HTML] Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact
Copy-number variants and structural variants (CNVs/SVs) drive many neurodevelopmental-
related disorders. While many neurodevelopmental-related CNVs/SVs give rise to complex …
related disorders. While many neurodevelopmental-related CNVs/SVs give rise to complex …
[HTML][HTML] Improving clinical trial readiness to accelerate development of new therapeutics for Rett syndrome
Rett syndrome is associated with severe functional impairments and many comorbidities,
each in urgent need of treatments. Mutations in the MECP2 gene were identified as causing …
each in urgent need of treatments. Mutations in the MECP2 gene were identified as causing …
[HTML][HTML] Autism spectrum disorder symptom expression in individuals with 3q29 deletion syndrome
Abstract Background The 1.6 Mb 3q29 deletion is associated with neurodevelopmental and
neuropsychiatric phenotypes, including a 19-fold increased risk for autism spectrum disorder …
neuropsychiatric phenotypes, including a 19-fold increased risk for autism spectrum disorder …
Altered canonical and striatal-frontal resting state functional connectivity in children with pathogenic variants in the Ras/mitogen-activated protein kinase pathway
Mounting evidence supports the role of the Ras/mitogen-activated protein kinase
(Ras/MAPK) pathway in neurodevelopmental disorders. Here, the authors used a genetics …
(Ras/MAPK) pathway in neurodevelopmental disorders. Here, the authors used a genetics …
[HTML][HTML] Neuroimaging findings in neurodevelopmental copy number variants: identifying molecular pathways to convergent phenotypes
Genomic copy number variants (CNVs) are associated with a high risk of
neurodevelopmental disorders. A growing body of genetic studies suggests that these high …
neurodevelopmental disorders. A growing body of genetic studies suggests that these high …
[HTML][HTML] Variegation of autism related traits across seven neurogenetic disorders
Gene dosage disorders (GDDs) constitute a major class of genetic risks for
psychopathology, but there is considerable debate regarding the extent to which different …
psychopathology, but there is considerable debate regarding the extent to which different …