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Tag: Simons Simplex Collection

October 2020
News

Reactions from ASHG 2020

by  /  30 October 2020

Get the inside scoop from the 2020 American Society of Human Genetics annual meeting.

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September 2020
Illustration shows two long rows of vials with genetic information inside, the shadows they cast are in the shape of humans.
Features / Deep Dive

How scientists secure the data driving autism research

by  /  30 September 2020

Protecting the privacy of autistic people and their families faces new challenges in the era of big data.

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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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October 2019
DNA
News

Rapid assay flags autism mutations in regions that flank genes

by  /  21 October 2019

Researchers have identified mutations within regulatory regions that are likely to contribute to autism, using a speedy system of DNA ‘barcodes.’

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May 2019
A mother taking her two children to school
News

Genetic background may alter effect of autism mutations

by  /  4 May 2019

A person’s genetic makeup can ease or worsen the effect of mutations linked to autism.

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January 2019
illustration shows woman under umbrella, with genes falling like rain
Opinion / Viewpoint

Expliquer la résilience à l’autisme peut faire naître de nouvelles thérapies

by  /  18 January 2019

This article is also available in anglais. Il y a quelques années la mère d’un jeune autiste m’a téléphoné. Elle venait d’apprendre que son fils, qui était dans la vingtaine, avait une délétion de SHANK3, l’un des gènes qui, d’après les découvertes de mon équipe, subit une mutation chez certaines personnes autistes. Cette nouvelle m’a […]

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September 2018
A collage of a DNA helix with two of the bars showing a different color. by Rebecca Horne
News

Control of gene expression alters impact of autism mutations

by  /  27 September 2018

Variants that control gene expression are often involved in whether a mutation ends up being harmful, and how harmful it is.

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May 2018
News

Hunt for autism variants between genes comes up empty

by  /  7 May 2018

To find variants between genes that contribute to autism, researchers may need thousands more whole genomes than they have now.

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April 2018
mutations in their mitochondrial genome
News

Mounting evidence links mitochondrial DNA to autism

by  /  5 April 2018

Genetic variants that affect mitochondria, the organelles that power cells, may increase the risk of autism.

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March 2018
Opinion / Viewpoint

Explaining ‘resilience’ in autism may seed new therapies

by  /  27 March 2018

Some individuals who have autism mutations show no signs of the condition; understanding why may lead to treatments.

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