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Spectrum: Autism Research News

Tag: rare variants

September 2016

Mutations tied to autism rife in ‘junk’ DNA

by  /  9 September 2016

More than one-third of the spontaneous mutations linked to autism crop up in genomic segments that do not code for genes.

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May 2016
Illustration shows doctors in Libya looking at a city, with children standing in the foreground.

The gene hunters

by  /  18 May 2016

Criss-crossing the globe on a quest for unusual DNA, researchers have discovered a rare mutation that promises insights into both epilepsy and autism — and points to a treatment.

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Mutations in tuberous sclerosis gene may be rife in autism

by  /  14 May 2016

Mutations in TSC2, a gene typically associated with a syndrome called tuberous sclerosis, are found in many children with autism.

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April 2016

Large genetic registry may uncover autism’s diverse origins

by  /  21 April 2016

Researchers are launching a new project that aims to collect genetic information from 50,000 people with autism, along with their relatives.

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January 2016

Study maps genetic variability in autism brains

by  /  14 January 2016

The first effort to sequence genes tied to autism in postmortem brain tissue reveals a range of harmful mutations in people with the condition.

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PsychENCODE - Nicolas Ogonosky

Massive brain study probes cause of autism, schizophrenia

by  /  13 January 2016

Researchers are studying more than 1,000 postmortem brains with the goal of unearthing shared genetic roots in neuropsychiatric conditions, including autism.

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December 2015

Notable papers of 2015

by  /  22 December 2015

Our top 10 papers for this year, based on input from autism researchers, capture the full spectrum of findings — from molecular biology to large-scale epidemiology.

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Hot topics of 2015

by  /  22 December 2015

Here’s a rundown of five trending topics that are turning traditional assumptions about autism on their head.

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Week of DecemberDec
14th
2015

Cautionary tale; lighter load; name game

by  /  18 December 2015

Prenatal screening for some disorders crosses into dangerous territory, researchers spurn paperwork in favor of science, and a list of hilarious paper titles will make your day.

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November 2015

Long-awaited databases reveal breadth of genetic variation

by  /  4 November 2015

Two massive efforts to sequence the DNA of more than 11,000 people together provide the most detailed picture yet of genetic variation in the general population.

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