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Posts by Wendy Jones
🧠🧲 BRAIN-MAGNET: A functional genomics atlas for interpretation of non-coding variants
💡 Fantastic initiative from the Barakat Lab
👀 Great to have a sneak peak at #MDC25
🧬 Predicts enhancer activity from DNA sequence
🕵️♂️ Prioritises functional non-coding variants
👇🧵 Check it out
20th Manchester Dysmorphology and Developmental Disorders Conference opened with a warm welcome from @mft-imrare.bsky.social clinical director Prof Banka
Celebrating the history of the conference, we were treated to a glimpse of the original 1984 programme curated by @ddysmo.bsky.social 👑🧬
#MDC25
Congratulations @hilarycmartin.bsky.social So well deserved!
Neanderthal-derived variants increase SOX9 enhancer activity in craniofacial progenitors that shape jaw development
Charlotte Wilmshurst #BSGM2025 Inconsistency in naming of genetic conditions causes challenges for those affected, including barriers to support. @uniquecharity.bsky.social highlighted that many families prefer the use of eponymous names. guidelines for naming practices in progress.
#BSGM2025 What an impressive start, Serena Nik Zainal opens the morning. The dark genome session highlights the importance of small non coding RNAs, TAADs, last exon frameshift variants and X inactivation when diagnosing and understanding rare diseases.
We are very excited to be celebrating #undiagnosedchildrensday 2025 @GOSH with @roalddahl.bsky.social, @swanuk.bsky.social & @spreadasmile to raise awareness of this group of patients & offer more support to families of SWAN children/young people @wendydjones.bsky.social @becksbdaniels.bsky.social
Just out …. Our paper on Behavioural profiles and social relationships in Wiedemann-Steiner syndrome ojrd.biomedcentral.com/articles/10....
Emily Anderson standing by a lectern, in a hotel ballroom with an ornate ceiling. The title on the presentation displayed starts with Cleft Genetics.
Emily Anderson Introducing …Genetics: A new Clinical Excellence Network (CEN) for Cleft Care in Great Britain and Northern Ireland. At Clinical genetics Society Conference (CGS) conference 2025. A pleasure to work with @clapacommunity.bsky.social and @cleftcollective.bsky.social and others.
Thanks for an excellent talk.
Many congratulations Wendy! Really excited to work together to explore the genetics of orofacial clefting.