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Tag: copy number variation

May 2021
Chart compiling the deletions and duplications linked to various neurodevelopmental traits.
News

Massive analysis scores genes’ sensitivity to mutations

by  /  5 May 2021

Researchers have rated more than 17,000 genes, including many linked to autism and other neuropsychiatric conditions, according to their sensitivity to deletions and duplications.

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February 2021
Heatmap plot showing how each genetic variant plus autism group differed.
News

Copy number variations linked to autism have diverse but overlapping effects

by  /  1 February 2021

People with mutations in distant chromosomal regions often share a range of autism traits, even if they do not meet the diagnostic threshold for autism.

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January 2021
Opinion / Q&A

How polygenic scores can improve predictions about autism, schizophrenia

by  /  19 January 2021

Jacob Vorstman wants to help people who have rare mutations tied to autism, schizophrenia and other neurodevelopmental conditions set expectations about outcomes.

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A mosaic made of different colors of maize (corn) kernels depicting DNA.
News

Two studies highlight role of ‘mosaic’ mutations in autism

by  /  11 January 2021

Mutations seen in only some of the body’s cells often affect gene activity in the brains of people with autism, and can involve large segments of DNA, according to two new studies.

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December 2020
Brain images color-coded to show structural changes in autism.
News

Gene expression maps reveal origins of brain changes from autism mutations

by  /  4 December 2020

A new study pinpoints the genes and cell types that may underlie the atypical brain structure seen in people with genetic conditions linked to autism.

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November 2020
Brain diagrams showing connectivity within different regions.
News

Gene mutations point to overlaps in brain connectivity for autism, schizophrenia

by  /  30 November 2020

People who have large mutations associated with autism and schizophrenia share atypical patterns of brain connectivity, according to a new study, especially between areas that process sensory information.

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Group of DNA helixes are seen on black
News

Analysis combining variants, conditions uncovers hundreds of neurodevelopmental genes

by  /  2 November 2020

The first genetic analysis of multiple types of variants from people with autism or other neurodevelopmental conditions reveals hundreds of genes that may be linked to neurodevelopment.

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July 2020
Man working from home office.
News

INSAR 2020, from home

by  /  31 July 2020

Like so many other events this year, autism’s biggest annual conference — the International Society for Autism Research meeting — was forced to go virtual because of the coronavirus pandemic.

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May 2020
News

Rare mutations in autism genes tied to intellectual disability

by  /  22 May 2020

A new study highlights the challenge of distinguishing genetic variants linked to autism from those associated with cognitive development.

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February 2020
News

Large mutations may explain diverse outcomes from autism gene

by  /  24 February 2020

Deletions and duplications of long stretches of DNA may increase the likelihood of autism in people who have a mutation in a gene called PTEN.

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