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Tag: Simons Simplex Collection

August 2021
News

Mutations in the noncoding genome contribute to autism

by  /  2 August 2021

Spontaneous mutations in parts of the genome that regulate gene EBF3 appear to contribute to autism risk.

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July 2021
News

Patchwork mutations present a new frontier for autism research

by  /  12 July 2021

Mosaic mutations, which affect only some of the body’s cells, play a small but meaningful role in autism. Though they are difficult to study, researchers are working to master their complexity.

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researchers analyzing a big change in a DNA helix
News

Evolutionary approach reveals impact of missense variants in autism

by  /  7 July 2021

Cross-species comparisons can help make sense of subtle genetic variants in people with autism and identify hundreds of new genes that may contribute to the condition.

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December 2020
Cells transporting NCKAP1 protein in and out of nucleus
News

Rare variants tied to neuronal migration, autism traits

by  /  4 December 2020

Many people with mutations in the NCKAP1 gene have autism or autism traits, according to a new study spanning seven countries.

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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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