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.
Read moreThis study shows that ANKLE2 mutations can cause a wide range of severity in microcephaly among patients.
Read moreDiscovering new genes that are linked to undiagnosed diseases has relevant scientific and clinical consequences as well as important personal implications for patients.
Read moreResearchers find that starting genetic analysis with RNA sequencing can increase diagnostic yield and confidence in diagnosis.
Read moreA new undiagnosed neurological syndrome that is characterized by brain malformations and a range of symptoms including visual impairment, epilepsy, developmental delays and intellectual disability
Read moreMany physicians and scientists think that the molecular diagnostic rate of undiagnosed diseases has room for improvement. Inspired by this need, a team at Baylor
Read moreIt 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
Read moreIt 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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