Comprehensive clinical study confirms the molecular link between microcephaly caused by Zika and ANKLE2 variants
This study shows that ANKLE2 mutations can cause a wide range of severity in microcephaly among patients.
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undiagnosed diseases
The discovery of genes like PAX5 improves diagnostic testing for neurodevelopmental disorders, and more
Discovering new genes that are linked to undiagnosed diseases has relevant scientific and clinical consequences as well as important personal implications for patients.
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New approach to diagnosing genetic diseases using RNA sequencing increases yield
Researchers find that starting genetic analysis with RNA sequencing can increase diagnostic yield and confidence in diagnosis.
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New undiagnosed disease linked to variants of WDR37 gene
A new undiagnosed neurological syndrome that is characterized by brain malformations and a range of symptoms including visual impairment, epilepsy, developmental delays and intellectual disability
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To better serve patients, Baylor researchers pioneer and improve reanalysis of clinical molecular data
Many physicians and scientists think that the molecular diagnostic rate of undiagnosed diseases has room for improvement. Inspired by this need, a team at Baylor
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Fruit flies: ‘living test tubes’ to rapidly screen potential disease-causing human genes
It all began with one young patient; a 7-year old boy who was born without a thymus, an important organ of the immune system, and
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Collaboration matters when looking for answers to undiagnosed diseases
It used to be that identifying genes involved in a particular disease was like finding a needle in a haystack. Nowadays, scientists still have to
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