Yuyang Chen @quenchentin
PhD student - Computational Rare Disease Genomics group with @nickywhiffin, Big Data Institute, University of Oxford (https://t.co/bfBM3lqX75) linkedin.com/in/yuyang-c-4a… Oxford, UK Joined October 2022-
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Vena Stebe @ve_stebe
25 Followers 5K Following
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Barbarii Teodora @TeodoraBarbarii
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Eloise Wells @eloise96wells
155 Followers 269 Following
Lauryn Larin @lau_larin
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Duncan Palmer @astheeggeggs
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Rachel G. Fox @rachelgiulia
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Mahdi Muhaddesi @MahdiMuhaddesi
217 Followers 604 Following 💊🔬Co-Founder at @RaycaBio | Precision Medicine | #HealthTech Startup Founder | Next Generation Sequencing (NGS) | #PrecisionOncology | https://t.co/Gy9fxBfvt0
Elfride De Baere @elfridedebaere
2K Followers 3K Following Rare eye & developmental diseases, IRD, non-coding genome, multi-omics, treatments. @ProgRET_MSCA coordinator https://t.co/ttWQw549Sf @RAREMED1 @FWOVlaanderen
Laura Whelan 🧬👩.. @LaurasLocus
3K Followers 1K Following Senior Scientist @futureneuro_ie 🧠 Irish node @GDI_EUproject 🇮🇪🇪🇺 Genomics 🤝 Healthcare 🧬 Fashion & film enthusiast 👗📽 PhD in eye genetics 🎓 She/Her
A/Prof Gina Ravenscro.. @Gianina_Natoli
2K Followers 3K Following NHMRC EL2 Fellow | Honorary Patricia Kailis Fellow | Mum,scientist,wife (Alphabetical Order) | Rare diseases & neurogenetics.
José Gabriel Niño B.. @josegabrielnb
115 Followers 309 Following Evolutionary biologist and virologist. Postdoc at the Paleovirology Lab @UniofOxford 🧬⛏️
Michael Reigh Guevarr.. @ReighGuevarra
278 Followers 4K Following BS Agriculture (Plant Pathology) graduate. Virology. Biotechnology. Vaccine Design. Also curious about Infectious Diseases and Cancer.
Istaq Ahmad @istaqahmad
219 Followers 3K Following Research Coordinator Department of Neurology, AIIMS New Delhi India
Bernardo Rodriguez Ma.. @BerniRdgz
438 Followers 614 Following Independent Fellow at @CRG. Leading the Repetitive DNA Biology Team
CHASERR lncRNA Dad @chaserrdad
146 Followers 350 Following Co-President @curechd2. Dad of first 🧒 in the 🌎 with a neurological disease caused by a lncRNA = Chd2 overexpression. Hunting for a cure. 📝coming soon.
HD Cure Today @HDCureToday
52 Followers 401 Following
Marcos Arrut @MarcosArrut
1K Followers 386 Following CEO at RenovaCode Therapeutics. 🧬 Biotechnology Researcher. 🧫 Revolutionizing Longevity Technologies in the World.💫 https://t.co/OuzFsA1GFu
CACNA1A Foundation @cacna1a
2K Followers 2K Following Nonprofit dedicated to a brighter future for those with CACNA1A variants. On a mission to fund life changing research while supporting families along the way.
Emma Woodward @ER_Woodward
634 Followers 2K Following Clinical Geneticist. Tweets, re-tweets, likes are my own.
John Best @noobestjohn
421 Followers 3K Following Make Liberalism Great Again. Re/tweets are things i think could be interesting, not things i necessarily agree with. Humor is the only gift.
Christel Depienne @ChristelDepienn
961 Followers 843 Following Molecular geneticist | Neurogenetics | repeat expansions | chromosome X | French expat 🇫🇷🇩🇪🇪🇺| Mum of 2
Alina Nicheperovich @alnnch
44 Followers 133 Following (Epi)Genomics of placental cancer🤰🏻| PhD candidate & Clarendon scholar @UniOfOxford @Ludwig_Cancer @bdi_oxford | Biochemist-turned-bioinformatician
Jillian Hastings Ward @HastingsJ123
2K Followers 1K Following 'that mother' - #R4Today🎙Independent Chair of Participant Panel @GenomicsEngland, founding board member @CureGRIN, Mum and wife. Write a bit. Views own
Paul Jerome Lamont @PAULJLAMONT
735 Followers 3K Following Committed to solve Alzheimer's syndrome. 🇳🇿🇺🇸🇦🇺🇮🇹
Arun Durvasula @arundurvasula
1K Followers 914 Following Statistical & Population Genetics @USC Assistant Professor at the Center for Genetic Epidemiology he/him
Oxfordshire FA ⚽ @OxfordshireFA
8K Followers 643 Following Working together with local people to develop football in Oxfordshire and create a better future for the sport in our county #YourAimOurGoal
Duncan Palmer @astheeggeggs
615 Followers 579 Following Statistical geneticist in the @ceclindgren lab at @bdi_oxford. Tweets are my own views.
Caroline Wright @carolinefwright
980 Followers 525 Following Academic research scientist in human genetics and genomic medicine (https://t.co/0qv9wG8bXn); pianist; hiker & outdoors enthusiast
Wellcome Sanger Insti.. @sangerinstitute
74K Followers 2K Following We are a world leader in genomics research. We apply and explore genomic technologies to advance the understanding of biology and improve health 🧬
Ewan Birney @ewanbirney
50K Followers 2K Following Deputy Director General of EMBL, Director of EMBL-EBI. I have an insatiable love of biology. @[email protected]. I also work with ONT, Dovetail + GeL.
Broad Institute @broadinstitute
97K Followers 4K Following A unique, collaborative community pioneering a new model of biomedical science
EMBL-EBI @emblebi
74K Followers 598 Following EMBL-EBI provides open biological data resources and tools, and performs basic research in computational biology. https://t.co/ax5VumVAyg
Anne O'Donnell-Luria @AnneOtation
1K Followers 326 Following Rare disease researcher and clinical geneticist using massive genomic datasets to improve clinical variant interpretation & understand incomplete penetrance.
Monkol Lek @theFourier2k
2K Followers 1K Following Asst Prof of Genetics at @YaleMed Working on ending the diagnostic odyssey for all rare disease patients! @dgmacarthur lab at MGH and @broadinstitute Alum
Konrad Karczewski @konradjk
4K Followers 198 Following Assistant Professor at MGH and the Broad Institute, gnomAD aficionado, Co-author: Exploring Personal Genomics: https://t.co/MthdVXP0xz
Centre for Human Gene.. @HumanGeneticsOx
3K Followers 537 Following At the Centre for Human Genetics, our aim is to gain an insight into health and disease by looking across all three billion letters of our genes
Matt Hurles @mehurles
4K Followers 257 Following Director, Wellcome Sanger Institute. Decipherer of developmental disorders. Co-founder Congenica Ltd. Dad, husband, cyclist, gardener.
Kaitlin Samocha @ksamocha
4K Followers 686 Following Assistant Investigator @CGM_MGH. Focus on human genomics and modeling rare variation. She/her. You can find me on the other place with the same name.
European Society of H.. @eshgsociety
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Jing Yu @logust79
24 Followers 75 Following
José Gabriel Niño B.. @josegabrielnb
115 Followers 309 Following Evolutionary biologist and virologist. Postdoc at the Paleovirology Lab @UniofOxford 🧬⛏️
ASHG @GeneticsSociety
52K Followers 323 Following The American Society of Human Genetics (ASHG) is the world's largest professional membership organization for human genetics & genomics specialists.
Joanna Howson @joannahowson
477 Followers 121 Following Statistical geneticist with an interest in cardiometabolic disease/traits & drug discovery. Views are my own.
Jillian Hastings Ward @HastingsJ123
2K Followers 1K Following 'that mother' - #R4Today🎙Independent Chair of Participant Panel @GenomicsEngland, founding board member @CureGRIN, Mum and wife. Write a bit. Views own
Soon-Keat Ooi @SoonKeatOoi
86 Followers 595 Following Postdoc at Center for Cellular Immunotherapies, UPenn | Chromatin | Protein biochemistry | Enzymology | Striving to translate basic science to clinics
Ashley Wong @ashleyw_01
90 Followers 353 Following PhD student modelling the evolution of cancer metastasis @CEC_ICR | formerly MBiochem @OPIGlets @BiochemOxford | she/her
Emilie Wigdor @EmilieWigdor
703 Followers 669 Following Postdoc in neurogenetics in the Sanders Lab at @UniofOxford in the @IdrmOxford and @OxPaediatrics | JRF @CPMOxford and @StAnnesCollege
Helena Kilpinen (hkil.. @HKilpinen
2K Followers 1K Following Assistant Professor in Genome Biology @HiLIFE_helsinki, @FIMM_UH, @UH_Neuro and @BioEnvHelsinki. Human genomics, stem cells, and neurodevelopment.
Veera Rajagopal @doctorveera
17K Followers 4K Following MBBS, MD, PhD | GWAS storyteller | Scientist at Regeneron | Human genetics & drug discovery in Neuroscience & Psychiatry | He/Him
Geng Wang @Jack_Geng_Wang
357 Followers 771 Following Postdoctoral research fellow of statistical genetics | DOHaD | Institute for Molecular Bioscience | The University of Queensland | BMed | MMed | PhD 🏳️🌈
Seren Ford @serenkford
26 Followers 767 Following DPhil student in Genomic Medicine and Statistics @UniofOxford she/her 🏳️🌈
Alper Akay @alperakay_
1K Followers 2K Following UKRI Future Leaders Fellow / Group Leader. Views my own. @alperakaylab (@[email protected]) (@alperakay.bsky.social)
David Henshall 🦀�.. @DavidHenshall_
1K Followers 4K Following 🩺 IMT2 Doctor @MTWnhs, Hon. Clinical Fellow @EdinburghUni 🧐 Interests minimally restricted... 🖥 Collabotarive research @NANSIG1 @INSPIREresp_UK @TRICNetwork
Joseph Halstead @Josephalstead
220 Followers 2K Following Lead Bioinformatician at All Wales Medical Genomics Service.
Georgia Pitsava @gpitsava
67 Followers 201 Following My friends call me Greta. Assoc. Project Scientist working on genetics of Rare Disorders at @UCIrvine | Previously @NICHD_NIH, @ChildrensNatl | MD
The DECIPHER Project @deciphergenomic
2K Followers 107 Following Enabling #matchmaking and interpretation of phenotype-linked pathogenic genetic variation in patients with #raredisease by effective #datasharing.
Jamie Ellingford @j_ellingford
984 Followers 465 Following Trying to unpick role of the human genome in disease👨🏻🔬🧬🖥 || Snr. Research Fellow @EGS_UoM || Lead Genomic Data Scientist - Rare Disease @GenomicsEngland
Alex Blakes @DrABlakes
298 Followers 274 Following Academic Paediatrics trainee and Wellcome Clinical Research Training Fellow in Manchester. Developmental disorders, genomics, and bioinformatics.
Sarah Louise Stenton @SL_Stenton
134 Followers 272 Following Deciphering the genetic cause of rare diseases | Postdoctoral Research Fellow @ BCH and Broad Institute of MIT and Harvard
Daniel MacArthur @dgmacarthur
42K Followers 2K Following Genomics, big data, open science. Director, Centre for Population Genomics at @GarvanInstitute + @MCRI_for_kids. Opinions my own. @dgmacarthur.bsky.social
Genomics England @GenomicsEngland
30K Followers 2K Following We’re working to enable faster and deeper genomic research, to bring genomic healthcare to all who need it.
Eloise Wells @eloise96wells
155 Followers 269 Following
Elston D'Souza @elston_neil
172 Followers 716 Following Learning about what makes people unique. DPhil Student & Computational Research Assistant at CRDG | University of Oxford | @HumanGeneticsOx
Nechama Wieder @NechamaWieder
191 Followers 485 Following DPhil Clinical Medicine Candidate @ University of Oxford
Nicky Whiffin @nickywhiffin
4K Followers 759 Following Associate Prof & Henry Dale Fellow @bdi_oxford @HumanGeneticsOx | Computational Rare Disease Genomics | Non-coding | @StAnnesCollege | @nickywhiffin.bsky.social
alexandra geary @Alextremophile
507 Followers 732 Following @[email protected] Bioinformatician CRDG lab (@nickywhiffin) human genetic disease and evolution. (she/her)
Ruby Dawes @RuebenaEDawes
320 Followers 1K Following Sydney girl, @AustAmFulbright recipient 2020-2021 with @theFourier2k. PhD @kids_research 2022, now postdoc with @nickywhiffin at @bdi_oxford. Splicing & smORFs!
Maria Fernandes @find_maria
131 Followers 394 Following Postdoc at CBMR, KU | Bioinformatics, Human Genetics, Metabolic diseases, and Privacy
Jonathan Talbot-Marti.. @jtalbotmartin
52 Followers 122 Following Biomedical Engineering Student @imperialcollege || Data Science Industrial Placement @GSK
Big Data Institute @bdi_oxford
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UK Biobank @uk_biobank
21K Followers 1K Following A large-scale biomedical database and research resource, that can be accessed globally by approved researchers, to enable scientific discoveries.
Centre for Personalis.. @CPMOxford
2K Followers 2K Following Twitter for the University of Oxford's Centre for Personalised Medicine, based at @StAnnesCollege and @HumanGeneticsOx.
News from Science @NewsfromScience
586K Followers 694 Following The latest stories in science, brought to you by the @ScienceMagazine news team.We are getting amazing emails from people who have identified individuals with RNU4-2 variants ❤️ If this is you, and your families are interested in meeting others or being part of a community, then please direct them to @Unique_charity (@swynn_unique).
Thrilled to share our latest discovery on a spliceosomal snRNA gene causing neurodevelopmental disorders: medrxiv.org/content/10.110… Thank you to everyone who contributed; it’s been a phenomenal effort to collaborate with clinicians and researchers for what would help many families!
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Can we detect the #RNU4-2 recurrent variant in exome / panel data ? In a nutshell : YES ! (with some luck) 🧵1/5 @nickywhiffin @ChristelDepienn
A mind-blowing discovery of a noncoding region in the human genome that might be holding the answer that 1000s of parents around the world with a child with a neurodevelopmental disorder (NDD) have been patiently waiting for years. A recurrent de novo noncoding single base pair…
Would you believe me if I told you that a single variant in a non-coding RNA explains ~0.5% of all undiagnosed individuals with neurodevelopmental disorders (NDD) in @GenomicsEngland ??? I didn’t initially either, but here is the story of RNU4-2 🧵1/9
Thrilled to share our latest discovery on a spliceosomal snRNA gene causing neurodevelopmental disorders: medrxiv.org/content/10.110… Thank you to everyone who contributed; it’s been a phenomenal effort to collaborate with clinicians and researchers for what would help many families!
@quenchentin This is no luck! Huge congratulations on the quality research!
This is so cool - a remarkably frequent mutation in a non-protein-coding RNA gene, which causes around one in every 200 currently undiagnosed cases of developmental delay around the world (including 8 Australian families so far!). A couple of thoughts (1/3)
Would you believe me if I told you that a single variant in a non-coding RNA explains ~0.5% of all undiagnosed individuals with neurodevelopmental disorders (NDD) in @GenomicsEngland ??? I didn’t initially either, but here is the story of RNU4-2 🧵1/9
Congratulations Yuyang, fantastic work from you and the wider collaboration!
Thrilled to share our latest discovery on a spliceosomal snRNA gene causing neurodevelopmental disorders: medrxiv.org/content/10.110… Thank you to everyone who contributed; it’s been a phenomenal effort to collaborate with clinicians and researchers for what would help many families!
Would you believe me if I told you that a single variant in a non-coding RNA explains ~0.5% of all undiagnosed individuals with neurodevelopmental disorders (NDD) in @GenomicsEngland ??? I didn’t initially either, but here is the story of RNU4-2 🧵1/9
Thrilled to share our latest discovery on a spliceosomal snRNA gene causing neurodevelopmental disorders: medrxiv.org/content/10.110… Thank you to everyone who contributed; it’s been a phenomenal effort to collaborate with clinicians and researchers for what would help many families!
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