Tag: copy number variation

September 2019
News

DNA deletion boosts odds of autism, especially in girls

by  /  2 September 2019

The loss of 21 genes on chromosome 3 may substantially raise the risk of autism.

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May 2019
A DNA helix showing common and rare variants
News

The multiple hits theory of autism, explained

by  /  1 May 2019

Researchers are studying how a combination of genetic ‘hits’ may contribute to autism’s diversity.

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April 2019
Hands on background of microarray and other genetic information
News

Genetic testing for autism, explained

by  /  10 April 2019

No genetic test can say whether a person has autism, but it may point to a cause for the condition or for any related complications.

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DNA
News

Repeats of certain DNA segments may align with autism severity

by  /  3 April 2019

Certain repeated stretches of DNA that are linked to the expansion of the primate brain may also enhance autism traits.

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March 2019
Multimedia / Podcasts

Spectrum Stories: The benefits of genetic testing in autism

by  /  18 March 2019

Finding a mutation linked to autism traits can have life-changing consequences for autistic individuals and their families.

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News

Deletion, duplication of chromosome 16 segment may confer same autism risk

by  /  6 March 2019

Autism may be just as common among children missing a segment of chromosome 16 as it is in those with an extra copy.

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February 2019
News

Analysis pinpoints genes linked to autism, developmental delay

by  /  6 February 2019

An analysis of spontaneous mutations in nearly 11,000 individuals with developmental delay or autism implicates 49 new genes.

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January 2019
Portrait of boy with autism
Features / Deep Dive

Why genetic tests matter for autistic people

by  /  30 January 2019

Genetic tests for people with autism are far from routine and don’t always yield results, but the information they offer can change lives.

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November 2018
Toddle boy having his head measured in a medical setting.
News

Brain organoid study firmly links autism mutations to RhoA

by  /  7 November 2018

A cellular pathway that helps neurons grow and move during fetal development may drive the changes in head size in some autistic people.

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October 2018
Brain cells under magnification glow red, purple and blue.
News

Mini-brains may pin down key genes in large mutations

by  /  22 October 2018

Clusters of brain cells — so-called ‘mini-brains’ grown in the lab — may help researchers understand how large stretches of duplicated or deleted DNA affect the brain.

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