Adriana Cherskov
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View article: Mapping recurrent mosaic copy number variation in human neurons
Mapping recurrent mosaic copy number variation in human neurons Open
When somatic cells acquire complex karyotypes, they often are removed by the immune system. Mutant somatic cells that evade immune surveillance can lead to cancer. Neurons with complex karyotypes arise during neurotypical brain development…
View article: A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus
A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus Open
Hydrocephalus, characterized by cerebral ventriculomegaly, is the most common disorder requiring brain surgery in children. Recent studies have implicated SMARCC1, a component of the BRG1-associated factor (BAF) chromatin remodelling compl…
View article: Genomic data resources of the Brain Somatic Mosaicism Network for neuropsychiatric diseases
Genomic data resources of the Brain Somatic Mosaicism Network for neuropsychiatric diseases Open
View article: A novel<i>SMARCC1</i>-mutant BAFopathy implicates epigenetic dysregulation of neural progenitors in hydrocephalus
A novel<i>SMARCC1</i>-mutant BAFopathy implicates epigenetic dysregulation of neural progenitors in hydrocephalus Open
Importance Hydrocephalus, characterized by cerebral ventriculomegaly, is the most common disorder requiring brain surgery. A few familial forms of congenital hydrocephalus (CH) have been identified, but the cause of most sporadic cases of …
View article: Integrative functional genomic analysis of human brain development and neuropsychiatric risks
Integrative functional genomic analysis of human brain development and neuropsychiatric risks Open
INTRODUCTION The brain is responsible for cognition, behavior, and much of what makes us uniquely human. The development of the brain is a highly complex process, and this process is reliant on precise regulation of molecular and cellular …
View article: Polycystic ovary syndrome and autism: A test of the prenatal sex steroid theory
Polycystic ovary syndrome and autism: A test of the prenatal sex steroid theory Open
View article: Cerebellar associative sensory learning defects in five mouse autism models
Cerebellar associative sensory learning defects in five mouse autism models Open
Sensory integration difficulties have been reported in autism, but their underlying brain-circuit mechanisms are underexplored. Using five autism-related mouse models, Shank3+/ΔC, Mecp2R308/Y, Cntnap2−/−, L7-Tsc1 (L7/Pcp2Cre::Tsc1flox/+), …
View article: Author response: Cerebellar associative sensory learning defects in five mouse autism models
Author response: Cerebellar associative sensory learning defects in five mouse autism models Open
Article Figures and data Abstract eLife digest Introduction Results Discussion Materials and methods References Decision letter Author response Article and author information Metrics Abstract Sensory integration difficulties have been repo…
View article: Correction: Corrigendum: Cerebellar plasticity and motor learning deficits in a copy-number variation mouse model of autism
Correction: Corrigendum: Cerebellar plasticity and motor learning deficits in a copy-number variation mouse model of autism Open
Nature Communications 5: Article number: 5586 (2014); Published: 24 November 2014; Updated: 27 January 2015 In this Article, there are errors in the labelling of the x axis in Fig. 2b. The labels '20', '40', '60' and '80' should have been …