Nicky Whiffin

So excited that our paper “De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome” is out today in @Nature nature.com/articles/s4158… 🧵 1/16

Congratulations to @nickywhiffin on being awarded the Balfour Lecturer! Her innovative contributions on the role of genetic variants in rare diseases are shaping the future of research and discovery. We look forward to her inspiring lecture! genetics.org.uk/medals-and-pri…

Found it 😄😄

Help #ASHG24 #ASHG2024! I have lost my hat 😭 Pictured below. Please let me know if you spot it!

At #ASHG24 #ASHG2024 and interested in non-coding variants in rare disease? I am speaking in the session "How do we describe and ascribe clinical significance to the non-coding genome?" bright and early tomorrow morning 🧬

Meet the team!! Four of our wonderful team will be presenting in this afternoon's poster session. Please go say hello and chat to them about their work. I may be biased, but they are all awesome! @eloise96wells @elstonndsouza @RuebenaEDawes Hyung Chul Kim #ASHG24 #ASHG2024

Super proud of @quenchentin for doing a beautiful job in his talk at #ASHG24 #ASHG2024 🤩

Coming up in 10 minutes is the incredible @quenchentin in room 505! #ASHG24 #ASHG2024

Super proud of @rbamford5 (Rosie Bamford) who is a finalist for the @GeneticsSociety ASHG Training Research Excellence Award. If you are at the meeting and interested in brain alternative splicing, make sure you check out her talk! #ASHG24 #ASHG2024 @UniofExeterNews @uniofexeHLS

Delighted to be advertising exciting PhD project with @jamesapoulter @LucyFStead on translation of novel neuro peptides from long non-coding RNAs findaphd.com/phds/project/m…

Next week is the Super Bowl of Genetics 🧬 🏈 😁 @GeneticsSociety annual meeting! We are hosting a get-together celebrating 150+ episodes of The Genetics Podcast. 🎉 Join us: lu.ma/geneticspodASHG Look forward to catching up, DM me if you want to meet!

Excited to report our study in @NEJM on the discovery of deletions in a long noncoding RNA gene 🧬 (𝘊𝘏𝘈𝘚𝘌𝘙𝘙) as the cause of a newly defined human neurodevelopmental disorder 🧠. 🧵1/10 nejm.org/doi/full/10.10…

Excited to share our @Nature paper introducing constraint metrics for #mtDNA! Constraint models are powerful tools that were missing for mtDNA—until now. By applying our model to #gnomAD, we reveal which sites in mtDNA are most crucial for health & disease nature.com/articles/s4158…

I am delighted to share our work on regional nonsense constraint in human protein coding genes! Now on @medRxiv: medrxiv.org/content/10.110… A quick 🧵 on what we found!

Thank you to the many clinicians, scientists, patients and families involved in the DDD study, @sangerinstitute @HelenVFirth @mehurles. A genetic diagnosis in rare diseases makes a huge difference to clinical management and patient outcomes, see: doi.org/10.1016/j.gimo…

Congratulations again @RuizhiDeng! 🎉 It was a pleasure to be on your examination committee, and fun to experience the formalities of a thesis defence in the Netherlands. And thank you for hosting me in Rotterdam @StefanBarakat 💻🧬🤓

👉 Out now @NatureRevGenet: we CAN and we SHOULD do more to enable #genomic data sharing! 🧬🌏 👉Best practice examples and 12 actions we can all take together 👉 rdcu.be/dWfsu @GA4GH @AusGenomics @GenomicsEngland @NHSgms @AllofUsResearch @uk_biobank @ukfuturehealth

This was such a wonderfully rewarding experience. Humbling to meet some of the wonderful families and to talk about what is known, what is not yet known, and how together we can drive progress ❤️🧬👭 @swynn_unique

Thanks, @IdrmOxford and @OxPaediatrics! I really enjoyed reflecting on these questions, and I hope my experiences can be helpful to others. In the link below, I share my thoughts on overcoming challenges and what I've learned along the way!👇 #AdaLovelaceDay

Help please! #ASHG2025 poster guidelines. Should these really be 6 feet wide? That is huge, right?