
Christel Depienne
@christeldepienn
Molecular geneticist | Neurogenetics | repeat expansions | chromosome X | snRNA | 🦋@christeldepienne.bsky.social
ID: 949692670758309888
06-01-2018 17:22:31
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Somatic repeat expansion field is getting more interesting!! David Pellerin National Ataxia Foundation Ataxia Global Initiative FA Research Alliance #Sca27b Bill Nye “Somatic instability of the FGF14-SCA27B GAA•TTC repeat with expansion in cerebellum” academic.oup.com/brain/advance-…

The catalog of all possible SNVs altering existing upORFs or creating new ones (via both canonical and non canonical TIS) in human transcripts is available on the mobidetails platform ( mobidetails.iurc.montp.inserm.fr/MD/) @soukarieh_omar BORDEAUX POPULATION HEALTH Center University of Bordeaux

Our preprint is online. CCG interruptions are unstable and hypermethylated in DM1 patients. biorxiv.org/cgi/content/sh…. A great collaborative effort! Thank you to all the authors. Sarah Kingan PacBio Centre of Research in Myology (UMRS 974) Institut de Myologie Institut Curie DM1Research DM-Scope





Christel Depienne …and the RNU4 (and 6) story gets even more exciting! See latest preprint coordinated my wonderful colleagues from the eye genetics field: medrxiv.org/content/10.110…




Beautiful, impactful work from Nicky Whiffin, Greg Findlay et al: Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders medrxiv.org/content/10.110…




Warm congrats to Amandine Santini who presented on behalf of an international collaboration led by the great Christel Depienne, on the major RNU4-2 small non coding RNA gene explaining 0.4% patients with a neurodev disorder and identification of at least 1 novel gene RNU5B-1


