Genetics in Medicine is the official journal of the American College of Medical Genetics and Genomics.
A recent collaborative study has discovered rare variants in the YKT6 gene as the cause of a new neurological disorder characterized by developmental delays along with severe progressive liver disease and a potential risk ...
Apr 2, 2024
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96
A single genetic test could potentially replace the current two-step approach to diagnosing rare developmental disorders in children. This shift could enable earlier diagnoses for families and save the NHS vital resources.
Mar 28, 2024
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50
Researchers at Baylor College of Medicine have linked specific variants or mutations of the gene myocardin-related transcription factor B (MRTFB) with a novel neurodevelopmental disorder.
May 9, 2023
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31
An international team of researchers led by UC Davis geneticist Suma Shankar has discovered a new gene implicated in a neurodevelopmental condition called DPH5-related diphthamide-deficiency syndrome. The syndrome is caused ...
Jul 12, 2022
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99
Around one in 500 men could be carrying an extra X or Y chromosome—most of them unaware—putting them at increased risk of diseases such as type 2 diabetes, atherosclerosis and thrombosis, say researchers at the universities ...
Jun 10, 2022
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127
A person's genetics may hold the key to early intervention in cardiovascular disease, leading to better outcomes in patient care. Researchers at Baylor College of Medicine's Human Genome Sequencing Center and Baylor cardiologists ...
Aug 9, 2021
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158
The so-called Plexin-A1 gene seems to play a more extensive role in brain development than previously assumed. This is shown by a current study led by the University Hospital Bonn and the Institute of Anatomy of the University ...
May 31, 2021
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26
An analysis of electronic health records for 1.7 million Wisconsin patients revealed a variety of health problems newly associated with fragile X syndrome, the most common inherited cause of intellectual disability and autism, ...
Apr 12, 2021
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33
The nutritional supplement has dramatically improved the lives of other children with the rare metabolic disorder.
Jun 4, 2020
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88
New laws are required to control access to medical genetic data by law enforcement agencies, an analysis by University of Queensland researchers has found.
Dec 18, 2018
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44
