Rare Disease Genetics and Genomics research at the University of Leeds. Tweets by @jamesapoulter.
Leeds, England
Joined September 2017
- Tweets66
- Following170
- Followers153
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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
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Rare Disease @ Leeds retweeted
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.
Rare Disease @ Leeds retweeted
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/S0002…
Rare Disease @ Leeds retweeted
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
Rare Disease @ Leeds retweeted
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-p…
Rare Disease @ Leeds retweeted
De novo missense variants in RRAGC affecting MTORC1- and TFEB-signaling cause an early #mTORopathy with unfavorable prognosis #mtor #cardiomyopathy #corticalmalformation bit.ly/3mI1lQk
Rare Disease @ Leeds retweeted
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/mi…
Mind Wonders 24 May #Leeds @pintofscience #pint23 pintofscience.co.uk/event/mi…. 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 🧠🧬🍻
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/ar…
Rare Disease @ Leeds retweeted
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/…
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
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/…
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/10.1101/…
Some exciting new research on Oguchi disease from an international collaboration led by @jamesapoulter and @MrGenePoole from @LeedsGenomics @LeedsMedHealth out today.
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/10.1101/…
New paper co-authored by researchers from @LeedsGenomics.
RNAseq Supports the Molecular Genetic Diagnosis of Late-Onset ADA Deficiency.
ncbi.nlm.nih.gov/pubmed/3098…
Fascinating paper using image analysis to assist in disease variant identification.
PEDIA: prioritization of exome data by image analysis.
ncbi.nlm.nih.gov/pubmed/3116…
Rare Disease @ Leeds retweeted
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 🧬
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 🧬
Rare Disease @ Leeds retweeted
One week to go!! #rarediseaseDay
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 🧬
Rare Disease @ Leeds retweeted
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 🧬
Rare Disease @ Leeds retweeted
New from Weedon & colleagues: "Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting"
bit.ly/2TWz2K1
Rare Disease @ Leeds retweeted
Our paper is out! SpliceAI, a deep learning method for predicting the effects of variants on splicing: cell.com/cell/fulltext/S0092…. Congrats to the @illumina team!
Rare Disease @ Leeds retweeted
The molecule mTORC1 supercharges stressed pancreatic beta cells, increasing their size and upping insulin production elifesciences.org/digests/38…