American Journal of Human Genetics

The American Journal of Human Genetics is a medical journal in the field of human genetics. Since its inception in 1948 by the American Society of Human Genetics, the journal has provided a record of research and review relating to heredity in humans and to the application of genetic principles in medicine and public policy, as well as in related areas of molecular and cell biology. Topics covered by The American Journal of Human Genetics include:

Publisher
Cell Press
History
1948–present
Website
http://www.cell.com/AJHG/home
Impact factor
12.303 (2009)

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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, ...

Oncology & Cancer

Predicting cancer versus autism risk in PTEN patients

In a new study published in American Journal of Human Genetics, a team of researchers led by Charis Eng, M.D., Ph.D., Chair of Cleveland Clinic's Genomic Medicine Institute, identified a metabolite that may predict whether ...

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