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
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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
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