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Tag: de novo mutations

January 2021
Molecular model of histone protein which wraps up DNA strands.
News

New condition hints at structural protein’s role in autism

by  /  22 January 2021

Mutations in genes that encode a histone, which gives structure to chromosomes, can lead to developmental delay and congenital anomalies.

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December 2020
White lab mouse sitting in a gloved hand.
Features / Special Reports / Hindsight is 2020: The year in review

Notable papers in autism research, 2020

23 December 2020

Gene therapies and the factors influencing autism traits top Spectrum’s list of the 10 most notable research findings we covered in 2020.

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Stylized DNA molecule
News

Mutations in the same exon linked to similar autism traits

by  /  17 December 2020

People with autism who carry DNA variants in the same protein-coding region of a gene have more similar cognitive abilities and behaviors than those who carry mutations in different regions of the same gene.

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Paper DNA with one torn base to signify a point mutation.
News

Analysis links 98 genes to neurodevelopmental conditions

by  /  10 December 2020

Genetic sequences from nearly 53,000 people with autism, developmental delay or intellectual disability reveal strong ties to 98 genes.

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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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November 2020
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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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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Mature dad and his daughter plays with blocks
News

Parental age plays small role in large mutations tied to autism

by  /  26 October 2020

Most of the large, spontaneous genetic mutations tied to autism are passed down from fathers. But, unlike with smaller mutations, a parent’s age is unlikely to up the rate at which they occur.

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September 2020
DNA helix inside the human body
News

Autism genetics, explained

by  /  3 September 2020

The more scientists dig into DNA, the more intricate its contribution to autism seems to be. Here, we unravel the complex genetics of autism.

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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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