James Russ-Silsby
jamesr-s.bsky.social
Postdoctoral researcher at the University of Exeter studying the genetics of neonatal diabetes.
👤 Joined on 30 October 2024
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- 30 Eki 2024, 22:42
🎉 Bluesky'e katıldı - İlk kullanıcı adı:
@jamesr-s.bsky.social
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#eshg2026 Early Career awards: Bryce Sebastian Rampal (Montréal, CA) Tanja Frey (Zurich-Schlieren, CH) Anthony Edward Francis McGuigan (Oxford, UK) Irena Josephina Johanna Muffels (Utrecht, NL) Samuel Moix (Lausanne, CH) Lea M Urpa (Helsinki, FI) James Russ-Silsby (Exeter, UK)
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🧬 Leigh Jackson (Exeter) presents multiple papers (see EJHG Special Issue ☝️ ) #ESHG2026 Penetrance of TSC, PCD, OI & RB1 across ~900,000 individuals Careful variant & phenotype curation matters In clinically unselected populations, disease risk can be ⬇️ than traditional estimates. #Genomics
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🧬 New from Johnson et al! 📄Bi-allelic variants in the non-protein-coding minor spliceosome components RNU6ATAC and RNU4ATAC cause syndromic monogenic autoimmune diabetes
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Authors of @ajhgnews.bsky.social's latest article expand the phenotypic spectrum of RNU4ATAC-associated disorders by showing that bi-allelic variants in the minor spliceosome snRNAs RNU6ATAC & RNU4ATAC cause early-onset autoimmune diabetes with immune dysregulation: https://bit.ly/40MZmLd #ASHG
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Global perspectives on #MonogenicDiabetes: review explores recent advances, global diagnostic challenges and promising future directions—from genomic equity to innovative therapies. #GlobalHealth link.springer.com/article/10.1... 🔓
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