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
Impact factor
12.303 (2009)

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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 ...

Genetics

New genes identified in hearing loss, providing treatment hope

A new study published today in The American Journal of Human Genetics has identified 44 genes linked to age-related hearing loss giving a much clearer understanding of how the condition develops and potential treatments.

Genetics

Genetic variation is key to fighting viruses

Using a genome-wide association study, EPFL scientists have identified subtle genetic changes that can cause substantial differences to how we fight viral infections.

Genetics

P5CS mutations identified as new target for skin rejuvenation

Led by scientists from Agency for Science, Technology and Research (A*STAR)'s Institute of Medical Biology (IMB), an international team of researchers has discovered a novel protein mutation which results in a rare premature ...

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