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Tag: de novo mutations

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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April 2020
Microscopic view of neurons
News

Mutations in autism gene linked to distinct conditions

by  /  3 April 2020

Individuals with mutations in an autism gene called TRIO may have a range of conditions, including intellectual disability and anomalous head size.

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March 2020
MRI scans of a child's brain with DDX3X mutation
News

Newly identified mutations clarify gene’s link to autism, intellectual disability

by  /  12 March 2020

Researchers have cataloged more than 100 mutations in DDX3X, a candidate gene for autism.

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Brain scans showing differences between those with TBR1 mutations and controls.
News

Mutations in top autism gene linked to changes in brain structure

by  /  4 March 2020

People with mutations in a gene called TBR1 have unusual features in several brain regions, along with autism traits and developmental delay.

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February 2020
Toddler is balancing with help from mom
News

Little-known gene tied to autism, developmental delay

by  /  28 February 2020

Rare mutations in a gene called BAZ2B are associated with various conditions of brain development, including autism.

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a pattern shows a helix-like form repeating in yellow on dark background.
News / Toolbox

Machine learning flags ‘mosaic’ mutations that may contribute to autism

by  /  19 February 2020

A new technique detects rare mutations that occur in only a subset of the body’s cells.

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January 2020
stork flying with an alarm clock, dice and a crescent moon
News

The link between parental age and autism, explained

by  /  28 January 2020

Older men and women are more likely than young ones to have a child with autism, but this connection is not straightforward.

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Image of many sperm in a mosaic-like pattern
News

Genetic tests of sperm may forecast odds of autism in children

by  /  16 January 2020

Some men who have an autistic child carry mutations linked to the condition only in their sperm.

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News

Autism’s genetic drivers may differ by sex

by  /  9 January 2020

Autism may stem from a different — and larger — set of genetic mutations in women than it does in men.

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