Molecular geneticist | Neurogenetics | repeat expansions | chromosome X | snRNAs | and more
Christel Depienne
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Such a fantastic day in Paris with the neuroscience community. 🧠
Incredible how many outstanding talks could fit into just one day!
Thank you so much for the invitation,
Fiona Francis, Juliette Godin, @sarabiz86.bsky.social, and Julien Courchet!
Christel Depienne
📢 paper alert 📢 #epilepsy associaties RNU2-2 description by @christeldepienne.bsky.social @nickywhiffin.bsky.social
-> recessive cases often include one de novo and one inherited variant
-> complex architecture of non-coding RNU genes, many novel questions for the field #genetics #raredisease
R-Synapse
🧬Three papers newly published in Nature Genetics spotlight RNU2-2 as a major cause of recessive developmental and epileptic encephalopathies.
Congratulations to all three teams!
👉 www.nature.com/articles/s41...
👉 www.nature.com/articles/s41...
👉 www.nature.com/articles/s41...
Analyses of snRNA genes in a French cohort of people with rare disorders, with validation through international collaboration, identify monoallelic and biallelic variants in RNU2-2 as frequent causes…
🧬Three papers newly published in Nature Genetics spotlight RNU2-2 as a major cause of recessive developmental and epileptic encephalopathies.
Congratulations to all three teams!
👉 www.nature.com/articles/s41...
👉 www.nature.com/articles/s41...
👉 www.nature.com/articles/s41...
European Society of Human Genetics
🧠 Nice Day at the Neural Network Club in Paris, @ijmonod.bsky.social
🧪 Super keynote speakers: @christeldepienne.bsky.social @morganethion.bsky.social Olivier Raineteau.
🧬 I showed our works "Hominid-specific LRRC37 receptors: a versatile toolbox in human neurons and neural circuits".
Analyses of snRNA genes in a French cohort of people with rare disorders, with validation through international collaboration, identify monoallelic and biallelic variants in RNU2-2 as frequent causes…
