intellectual disability

An international team tracked down de novo mutations in the CHAMP1 gene in five children with intellectual and motor delays, speech impairment, and other symptoms.

Researchers at the Manchester Centre for Genomic Medicine are using the platform to identify genetic alterations tied to cancer and developmental disorders and disabilities.

More than 10 percent of individuals in an unselected population carried recurrent syndrome-associated CNVs or rare autosomal CNVs with potential ties to cognitive ability.

NEW YORK (GenomeWeb) – Courtagen Life Sciences today announced a deal with Bioinn Molecular Diagnosis to provide Courtagen's clinical next-generation sequencing tests for neurological and metabolic disorders in Taiwan.

NEW YORK (GenomeWeb) – De novo mutations linked to schizophrenia are over-represented in chromatin remodeling genes, researchers from Cold Spring Harbor Laboratory and Trinity College Dublin repo

NEW YORK (GenomeWeb News) – A new study in the New England Journal of Medicine is underscoring the importance of de novo mutations in non-syndromic intellectual disability, while highlighting the potential of using exome sequencing to diagnose severe intellectual disability case

Researchers at the Radboud University Nijmegen Medical Center are looking at ways to expand their diagnostic exome sequencing program for a range of diseases, even as they go through data from the pilot phase of the effort.

The test was licensed from Toronto's Centre for Addiction and Mental Health. It expects the test to hit the market next year.

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Thermo Fisher Scientific says it will no longer sell machines in China's Xinjiang region, according to the Wall Street Journal.

New Scientist reports that 20 percent of human and yeast proteins are uncharacterized.

The University of Zurich's Ruedi Aebersold and his colleagues analyzed a dozen HeLa cell lines to find differences in gene expression, protein levels, and more.

In Nature this week: protein-coding variants associated with body-fat distribution, and more.