Tom Laver
@tomlaver
Senior Lecturer in Diabetes at the University of Exeter Medical School. Interested in rare disease genetics, bioinformatics, DNA sequencing.
ID: 296231645
10-05-2011 12:21:46
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Thought we couldn't use SNP-genotyping data in UK Biobank to evaluate penetrance of rare pathogenic variants? Think again... biorxiv.org/content/early/…
A fascinating gene detective work by Sarah Flanagan and team uncovers large deletions disrupting FOXA2 as the genetic cause of congenital hyperinsulinism (HI). Here the authors identify five HI patients with overlapping heterozygous large deletion CNVs. Interestingly, the causal
Huge congratulations to Sarah Flanagan, who has been awarded the G.B. #Morgagni Silver Young Investigator Award, which celebrates exceptional research in the field of metabolic diseases! #ExeterDiabetes Find out more about Dr Flanagan's achievement here: bit.ly/2JfQ1m5