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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Researchers find that starting genetic analysis with RNA sequencing can increase diagnostic yield and confidence in diagnosis.
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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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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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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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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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