@yuyangchen.bsky.social
3/3 I am thrilled to be part of a study establishing the clinical phenotypes of NDD associated with recessive variants in RNU4-2. Thank you to @rociorius.bsky.social, @alexblakes.bsky.social, @cassimons.bsky.social and @nickywhiffin.bsky.social for leading this work! More details: lnkd.in/eTJ5Rapt
New recessive neurodevelopmental disorder caused by RNU4-2 variants | Nicola Whiffin posted on the topic | LinkedIn
I am excited to share our preprint describing a new **recessive** neurodevelopmental disorder caused by variants in the non-coding snRNA RNU4-2 🎉
https://lnkd.in/dHNDCsDe
Led by two super ⭐ s Roci...
lnkd.in
August 26, 2025 at 3:59 AM
3/3 I am thrilled to be part of a study establishing the clinical phenotypes of NDD associated with recessive variants in RNU4-2. Thank you to @rociorius.bsky.social, @alexblakes.bsky.social, @cassimons.bsky.social and @nickywhiffin.bsky.social for leading this work! More details: lnkd.in/eTJ5Rapt
2/3 I was also honoured to join the Leena Peltonen School of Human Genomics (LPSHG) in Cambridge, where I met incredible mentors and peers, talking about science and future collaborations. I'm really pleased to know about all your research!
August 26, 2025 at 3:59 AM
2/3 I was also honoured to join the Leena Peltonen School of Human Genomics (LPSHG) in Cambridge, where I met incredible mentors and peers, talking about science and future collaborations. I'm really pleased to know about all your research!