Close Menu

intellectual disability

Researchers diagnosed almost 70 percent of the neurometabolic cases they tackled, using exome sequence data for dozens of affected children and their families.

Using whole-exome sequencing early in the diagnostic process could save $3,500 on average in patients who obtain a diagnosis from it and $1,700 in patients who do not.

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.

Pages

University of Idaho researchers model the scientific discovery process to examine the link between reproducibility and scientific truth.

A bill passed by a US House of Representatives appropriations subcommittee would give scientific agencies including the National Science Foundation boosts in funding.

Relocating USDA agencies outside of Washington, DC, may make them less effective, critics of the move tell NPR.

In PLOS this week: genes that help Borrelia burgdorferi survive in ticks, CiliaCarta collection of about 1,000 suspected cilia genes, and more.