Wendy Jones
@wendydjones.bsky.social
UK Doctor specialising in Clinical Genetics and Genomics. Researcher investigating Wiedemann-Steiner syndrome, chromatin disorders and genetics of orofacial clefting. All views are my own.
Reposted 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
💡 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
November 20, 2025 at 9:58 AM
🧠🧲 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
💡 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
Reposted by Wendy Jones
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
Celebrating the history of the conference, we were treated to a glimpse of the original 1984 programme curated by @ddysmo.bsky.social 👑🧬
#MDC25
November 16, 2025 at 3:20 PM
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
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!
Congratulations @hilarycmartin.bsky.social from @sangerinstitute.bsky.social on being awarded the 2026 Balfour Lecture!
November 14, 2025 at 6:56 PM
Congratulations @hilarycmartin.bsky.social So well deserved!
Neanderthal-derived variants increase SOX9 enhancer activity in craniofacial progenitors that shape jaw development
📣 Paper alert!
I am delighted that our paper exploring the impact of Neanderthal-derived variants on the activity of a disease-associated craniofacial enhancer has been published in Development today!
journals.biologists.com/dev/article/...
I am delighted that our paper exploring the impact of Neanderthal-derived variants on the activity of a disease-associated craniofacial enhancer has been published in Development today!
journals.biologists.com/dev/article/...
November 10, 2025 at 3:55 PM
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.
November 5, 2025 at 3:38 PM
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.
November 5, 2025 at 12:53 PM
#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.
Reposted by Wendy Jones
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
April 24, 2025 at 7:06 PM
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....
Behavioral profiles and social relationships in Wiedemann–Steiner syndrome: parent reports on 25 cases - Orphanet Journal of Rare Diseases
Background Wiedemann–Steiner syndrome (WSS) is a rare, variable neurodevelopmental condition associated with developmental delay, intellectual disability and congenital abnormalities. There are few in...
ojrd.biomedcentral.com
April 3, 2025 at 10:19 PM
Just out …. Our paper on Behavioural profiles and social relationships in Wiedemann-Steiner syndrome ojrd.biomedcentral.com/articles/10....
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.
March 20, 2025 at 6:00 PM
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.
Reposted by Wendy Jones
Many congratulations Wendy! Really excited to work together to explore the genetics of orofacial clefting.
I am totally over the moon to have received a grant from CLEFT to research genetic causes of orofacial clefting. Delighted to work with @hannahlong.bsky.social @helenvfirth.bsky.social www.cleft.org.uk/pages/catego...
Research
When it comes to clefts, there is still so much that is unknown. A core principle of CLEFT is to invest in research projects that study the cause and treatment of clefts. Clinical research is not usua...
www.cleft.org.uk
March 11, 2025 at 8:37 AM
Many congratulations Wendy! Really excited to work together to explore the genetics of orofacial clefting.
I am totally over the moon to have received a grant from CLEFT to research genetic causes of orofacial clefting. Delighted to work with @hannahlong.bsky.social @helenvfirth.bsky.social www.cleft.org.uk/pages/catego...
Research
When it comes to clefts, there is still so much that is unknown. A core principle of CLEFT is to invest in research projects that study the cause and treatment of clefts. Clinical research is not usua...
www.cleft.org.uk
March 11, 2025 at 8:04 AM
I am totally over the moon to have received a grant from CLEFT to research genetic causes of orofacial clefting. Delighted to work with @hannahlong.bsky.social @helenvfirth.bsky.social www.cleft.org.uk/pages/catego...