American Journal of Human Genetics

Genetics

Robotic technology speeds arrhythmia gene classification

Vanderbilt University Medical Center investigators have used high-throughput robotic technology to rapidly study and classify variations in a gene linked to heart rhythm disorders and cardiac conditions.

Neuroscience

New neurodegenerative disorder discovery

A Melbourne led study has uncovered a new neurodegenerative disorder in which children experience developmental regression and severe epilepsy.

Genetics

New gene for male infertility discovered

At least one in five cases of infertility remain unexplained. Male factors contribute to about half of these cases and, much of the time, men lack a specific causal diagnosis for their infertility. Researchers estimate that ...

Genetics

IQSEC1 gene mutations cause new intellectual disability syndrome

It used to take several years or sometimes decades to unequivocally identify the genes that cause rare human syndromes that affect very few individuals. Nowadays, however, human geneticists and fly and mouse biologists have ...

Genetics

Genetics researchers find new neurodevelopmental syndrome

Researchers have identified a gene mutation that causes developmental delay, intellectual disability, behavioral abnormalities and musculoskeletal problems in children. The newly diagnosed condition, called NKAP-related syndrome, ...

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