[HTML][HTML] The foundation and architecture of precision medicine in neurology and psychiatry
Neurological and psychiatric diseases have high degrees of genetic and pathophysiological
heterogeneity, irrespective of clinical manifestations. Traditional medical paradigms have …
heterogeneity, irrespective of clinical manifestations. Traditional medical paradigms have …
[PDF][PDF] Phase separation as a missing mechanism for interpretation of disease mutations
It is unclear how disease mutations impact intrinsically disordered protein regions (IDRs),
which lack a stable folded structure. These mutations, while prevalent in disease, are …
which lack a stable folded structure. These mutations, while prevalent in disease, are …
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 …
Molecular and network-level mechanisms explaining individual differences in autism spectrum disorder
The mechanisms underlying phenotypic heterogeneity in autism spectrum disorder (ASD)
are not well understood. Using a large neuroimaging dataset, we identified three latent …
are not well understood. Using a large neuroimaging dataset, we identified three latent …
Neuronal defects in a human cellular model of 22q11. 2 deletion syndrome
Abstract 22q11. 2 deletion syndrome (22q11DS) is a highly penetrant and common genetic
cause of neuropsychiatric disease. Here we generated induced pluripotent stem cells from …
cause of neuropsychiatric disease. Here we generated induced pluripotent stem cells from …
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 …
[PDF][PDF] Insufficient evidence for “autism-specific” genes
Despite evidence that deleterious variants in the same genes are implicated across multiple
neurodevelopmental and neuropsychiatric disorders, there has been considerable interest …
neurodevelopmental and neuropsychiatric disorders, there has been considerable interest …
A framework for an evidence-based gene list relevant to autism spectrum disorder
Autism spectrum disorder (ASD) is often grouped with other brain-related phenotypes into a
broader category of neurodevelopmental disorders (NDDs). In clinical practice, providers …
broader category of neurodevelopmental disorders (NDDs). In clinical practice, providers …
Genesis, modelling and methodological remedies to autism heterogeneity
Diagnostic criteria used in autism research have undergone a shift towards the inclusion of a
larger population, paralleled by increasing, but variable, estimates of autism prevalence …
larger population, paralleled by increasing, but variable, estimates of autism prevalence …
[HTML][HTML] Deep exome sequencing identifies enrichment of deleterious mosaic variants in neurodevelopmental disorder genes and mitochondrial tRNA regions in …
M Nishioka, J Takayama, N Sakai, A Kazuno… - Molecular …, 2023 - nature.com
Bipolar disorder (BD) is a global medical issue, afflicting around 1% of the population with
manic and depressive episodes. Despite various genetic studies, the genetic architecture …
manic and depressive episodes. Despite various genetic studies, the genetic architecture …