Whole-exome sequencing identifies an α-globin cluster triplication resulting in increased clinical severity of β-thalassemia
Sign Up to like & getrecommendations! Published in 2017 at "Cold Spring Harbor Molecular Case Studies"
DOI: 10.1101/mcs.a001941
Abstract: Whole-exome sequencing (WES) has been increasingly useful for the diagnosis of patients with rare causes of anemia, particularly when there is an atypical clinical presentation or targeted genotyping approaches are inconclusive. Here, we describe a… read more here.
Keywords: exome sequencing; diagnosis; triplication; globin cluster ... See more keywords
DSCAM gene triplication causes excessive GABAergic synapses in the neocortex in Down syndrome mouse models
Sign Up to like & getrecommendations! Published in 2023 at "PLOS Biology"
DOI: 10.1371/journal.pbio.3002078
Abstract: Down syndrome (DS) is caused by the trisomy of human chromosome 21 (HSA21). A major challenge in DS research is to identify the HSA21 genes that cause specific symptoms. Down syndrome cell adhesion molecule (DSCAM)… read more here.
Keywords: dscam; gabaergic synapses; excessive gabaergic; triplication ... See more keywords