Nicky Whiffin
@nickywhiffinAssociate Prof & Henry Dale Fellow @bdi_oxford @HumanGeneticsOx | Computational Rare Disease Genomics | Non-coding | @StAnnesCollege | @nickywhiffin.bsky.social
Similar User
@doctorveera
@ksamocha
@DiseaseGenes
@ceclindgren
@Eric_Fauman
@eshgsociety
@gnomad_project
@TalkowskiLab
@mehurles
@deciphergenomic
@dalygene
@HumanGeneticsOx
@j_ellingford
@HeidiRehm
@hilsomartin
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
(1/4) I’m delighted to announce that our research on RNU4-2 is now out on @Nature . This is an exciting finding that will bring many diagnoses worldwide. We have updated some new results since the preprint: nature.com/articles/s4158…
Found 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
Coming up in 10 minutes is the incredible @quenchentin in room 505! #ASHG24 #ASHG2024
I will be presenting at the #ASHG24 on ReNU syndrome, a newly discovered neurodevelopmental disorder caused by variants in RNU4-2. Hope to see you at the "Beyond Genetic Discoveries: Novel Mechanisms of Neurodevelopmental Disorders" session this Wednesday morning, 8:15-8:30am!
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
I’m thrilled to announce I am presenting at #ASHG24! I am in Session 83 "Splice Splice Baby" in Room 505 at 1.15 pm on Friday 8th Nov. Come along to hear all about our latest long-read transcriptome results! (1/)
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 💻🧬🤓
Congratulations to Dr. @RuizhiDeng for successfully defending your PhD thesis! "Unravelling the dark matter of the genome: towards shortening the diagnostic odyssey for neurogenetic disorders using functional genomics and bioinformatics" @ErasmusMC @Erasmusgenetica #proudPI, #PhD
👉 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
Join Us for the World’s First Q&A on RNU4-2/ReNU Syndrome! If a loved one is impacted by a change in the RNU4-2 gene, don’t miss this webinar. 📅 Date: 10th October 2024 🕒 Time: 2:30pm BST 🔗 Register here: bit.ly/RNU4-2 #Webinar #RareDisease #RNU42
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
Happy Ada Lovelace Day! We are proud to support and empower women making strides in STEM, especially those here at the IDRM. Read Postdoc Emilie Wigdor's insights about forging a career in bioinformatics: lnkd.in/gEBTjTz3
United States Trends
- 1. #PaulTyson 105 B posts
- 2. Goyat 13,9 B posts
- 3. #SmackDown 23,4 B posts
- 4. Rosie Perez 1.686 posts
- 5. Cedric 5.620 posts
- 6. #netfilx N/A
- 7. SHINSUKE 1.456 posts
- 8. Bayley 5.188 posts
- 9. #NetflixBoxing N/A
- 10. Cam Thomas 2.315 posts
- 11. B-Fab 4.200 posts
- 12. LA Knight 3.461 posts
- 13. CJ Cox N/A
- 14. Purdue 5.043 posts
- 15. Max Christie 1.274 posts
- 16. #FightNight 4.253 posts
- 17. Hukporti 1.163 posts
- 18. Karoline 40,4 B posts
- 19. Kevin Love 1.939 posts
- 20. Michin 3.475 posts
Who to follow
-
Veera Rajagopal
@doctorveera -
Kaitlin Samocha
@ksamocha -
DiseaseGenes
@DiseaseGenes -
Cecilia Lindgren
@ceclindgren -
Eric Fauman
@Eric_Fauman -
European Society of Human Genetics (ESHG)
@eshgsociety -
Genome Aggregation Database
@gnomad_project -
Talkowski Lab
@TalkowskiLab -
Matt Hurles
@mehurles -
The DECIPHER Project
@deciphergenomic -
Mark Daly
@dalygene -
Centre for Human Genetics
@HumanGeneticsOx -
Jamie Ellingford
@j_ellingford -
Heidi Rehm
@HeidiRehm -
Hilary Martin
@hilsomartin
Something went wrong.
Something went wrong.