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
Applications are open for @dev-journal.bsky.social 2026 Pathway to Independence (PI) programme, supporting postdocs applying for group leader positions:
Mentoring
Profile raising
Leadership training
Network building
Spread the word...
www.biologists.com/grants/devel...
Mentoring
Profile raising
Leadership training
Network building
Spread the word...
www.biologists.com/grants/devel...
Development's Pathway to Independence Programme
Our grants support and encourage the sharing of knowledge throughout the community by facilitating international collaboration, event attendance and the organisation of scientific meetings, conference...
www.biologists.com
December 3, 2025 at 6:56 AM
Applications are open for @dev-journal.bsky.social 2026 Pathway to Independence (PI) programme, supporting postdocs applying for group leader positions:
Mentoring
Profile raising
Leadership training
Network building
Spread the word...
www.biologists.com/grants/devel...
Mentoring
Profile raising
Leadership training
Network building
Spread the word...
www.biologists.com/grants/devel...
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...