Nice feature about recent work published from @ThePoulterLab describing a new genetic disorder due to a recurrent de novo mutation in the MAX gene. @jamesapoulter @LIMRLeeds
English
Rare Disease @ Leeds
66 posts
Rare Disease @ Leeds
@LeedsGenomics
Rare Disease Genetics and Genomics research at the University of Leeds. Tweets by @jamesapoulter.
Leeds, England Katılım Eylül 2017
171 Takip Edilen154 Takipçiler
Rare Disease @ Leeds retweetledi
A new @NEYGenomics vacancy to work on genomics R&D projects in the NHS. A great opportunity to join the NEY GLH and work @LeedsHospitals. Please note the rapidly approaching closing date of the 14th February.
English
Rare Disease @ Leeds retweetledi
Great start to 2024 with our publication describing a recurrent de novo in MAX associated with a syndromic form of macrocephaly and polydactyly in @AJHGNews. Thanks to all our collaborators who contributed to this work and funding from @UKRI_News. cell.com/ajhg/fulltext/…
English
Rare Disease @ Leeds retweetledi
Very happy to see this review published, co-authored by two fantastic PhD students from @ThePoulterLab.
D-Type Cyclins in Development and Disease mdpi.com/2387968 #mdpigenes via @Genes_MDPI
English
Rare Disease @ Leeds retweetledi
We're looking for input from patients and the public to help improve user experience on our website, raising awareness about the positive impact of genomics on people’s lives.
Please consider taking part in our online workshop and share with others too: ney-genomics.org.uk/please-provide…
English
Rare Disease @ Leeds retweetledi
De novo missense variants in RRAGC affecting MTORC1- and TFEB-signaling cause an early #mTORopathy with unfavorable prognosis #mtor #cardiomyopathy #corticalmalformation bit.ly/3mI1lQk
English
Rare Disease @ Leeds retweetledi
Excited to be speaking about the human brain on the 24th May at the Nation of Shopkeepers in Leeds for @pintofscience #Pint23 @NeuroLeeds. See the full line up and buy tickets here: pintofscience.co.uk/event/mind-won…
Hannah Campbell@HannahCamp22
Mind Wonders 24 May #Leeds @pintofscience #pint23 pintofscience.co.uk/event/mind-won…. Come and hear talks from leading neuroscientists and neurophysiologist from the University of Leeds. Learn about what the brain is made of, memories, smell, Alzheimer’s and chronic pain #pint23 🧠🧬🍻
English
A new #RareDisease paper from @jamesapoulter from @ThePoulterLab identifying and characterising de novo missense mutations in RRAGC as a cause of a fatal mTORopathy of early childhood.
sciencedirect.com/science/articl…
English
Rare Disease @ Leeds retweetledi
Great to see this paper out from @ChrisM_Watson and @LeedsVRG on the use of long-range @nanopore sequencing to verify and characterise large deletions identified from exon-based short-read sequencing. @LeedsGenomics #nanopore #RareDisease onlinelibrary.wiley.com/doi/10.1002/mg…
English
Fantastic to see this article on the lessons learned from analysis of the ciliopathy cohort in the 100,000 Genomes Project by @SunaynaBest @johnsoncilialab @LeedsGenomics
Sunayna Best@SunaynaBest
Delighted to see our commentary article in AJMG discussing lessons learned from analysis of the 100,000 Genomes Project ciliopathy cohort @GabrielleWheway @MrGenePoole @johnsoncilialab @ChrisM_Watson @GenomicsEngland onlinelibrary.wiley.com/doi/10.1002/aj…
English
@GeneticBill @PALOH_Study @nwgmsa @NHSgms Thanks for coming across @GeneticBill - a fantastic talk and exciting to hear about how pharmacogenetics is being integrated in to everyday clinical practice.
English
English
And here's another one from @LeedsGenomics, out last month. Comparative proximity biotinylation produces an inventory of RAB18-interactions and implicates RAB18 in cholesterol mobilization in @biorxivpreprint #rarediseases biorxiv.org/content/10.110…
English
Some exciting new research on Oguchi disease from an international collaboration led by @jamesapoulter and @MrGenePoole from @LeedsGenomics @LeedsMedHealth out today.
James Poulter@jamesapoulter
New pathogenic variants and insights into pathogenic mechanisms in GRK1-related Oguchi disease. My latest paper with @Molly_Gravett and @MrGenePoole, to name but a few. Preprint available @biorxivpreprint #rarediseases biorxiv.org/content/10.110…
English
@jamesapoulter from @LeedsGenomics be running the #York10K to raise money for @GeneticDisUK and #GenesforJeans. If you would like to donate then please click on the following link to go to his fundraising page: justgiving.com/fundraising/ja…
James Poulter@jamesapoulter
On the 4th August I'll be running the York 10K for @GeneticDisUK to raise money to support individuals and families affected by genetic disorders. Any donations towards this great charity would be greatly appreciated! #jeansforgenes #York10k #rarediseases justgiving.com/fundraising/ja…
English
New paper co-authored by researchers from @LeedsGenomics.
RNAseq Supports the Molecular Genetic Diagnosis of Late-Onset ADA Deficiency.
ncbi.nlm.nih.gov/pubmed/30989467
English
Fascinating paper using image analysis to assist in disease variant identification.
PEDIA: prioritization of exome data by image analysis.
ncbi.nlm.nih.gov/pubmed/31164752
English
Rare Disease @ Leeds retweetledi
1 day to go! Come to Bexley Wing, St James Hospital tomorrow to support @rarediseaseday 2019! Grab some info about #RareDiseaseDay & Rare Disease research. Our colleagues from @LTHTBioResource will be there too with info about how to get involved. #ShowYourRare 🧬
LTHT Clinical Genetics Research@LeedsClinGenRes
It's @rarediseaseday next Thursday, and we'll be at a stand in Bexley Wing, St James Hospital! Come and grab some information about RDD, and talk to us about the rare disease studies available to Yorkshire patients #RareDiseaseDay #ShowYourRare #GeneticsResearch #Leeds 🧬
English
Rare Disease @ Leeds retweetledi
One week to go!! #rarediseaseDay
LTHT Clinical Genetics Research@LeedsClinGenRes
It's @rarediseaseday next Thursday, and we'll be at a stand in Bexley Wing, St James Hospital! Come and grab some information about RDD, and talk to us about the rare disease studies available to Yorkshire patients #RareDiseaseDay #ShowYourRare #GeneticsResearch #Leeds 🧬
English
Rare Disease @ Leeds retweetledi
It's @rarediseaseday next Thursday, and we'll be at a stand in Bexley Wing, St James Hospital! Come and grab some information about RDD, and talk to us about the rare disease studies available to Yorkshire patients #RareDiseaseDay #ShowYourRare #GeneticsResearch #Leeds 🧬
English
@GenSocUK is celebrating its centenary year - go and celebrate on international Mendel day, 8th March, at the RI! eventbrite.co.uk/e/internationa…
English