American Journal of Human Genetics

Genome sequencing finds unknown cause of epilepsy

Only 10 years ago, deciphering the genetic information from one individual in a matter of weeks to find a certain disease-causing genetic mutation would have been written off as science fiction.

Feb 23, 2012
popularity 4.6 / 5 (7) | comments 0 | with audio podcast

Researchers identify new rare neuromuscular disease

An international team of researchers has identified a new inherited neuromuscular disorder. The rare condition is the result of a genetic mutation that interferes with the communication between nerves and ...

Sep 04, 2014
popularity 5 / 5 (2) | comments 0

A new syndrome caused by mutations in AHDC1

A team of researchers led by Baylor College of Medicine have identified the gene underlying a newly recognized genetic syndrome that has symptoms of sleep apnea, delayed speech and hyptonia, or generalized upper body weakness.

May 01, 2014
popularity 5 / 5 (1) | comments 0