The molecule mTORC1 supercharges stressed pancreatic beta cells, increasing their size and upping insulin production elifesciences.org/digests/38472/…

New from Weedon & colleagues: "Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting" bit.ly/2TWz2K1

Our paper is out! SpliceAI, a deep learning method for predicting the effects of variants on splicing: cell.com/cell/fulltext/…. Congrats to the Illumina team!

It's Rare Disease Day 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 🧬

One week to go!! #rarediseaseDay

1 day to go! Come to Bexley Wing, St James Hospital tomorrow to support Rare Disease Day 2019! Grab some info about #RareDiseaseDay & Rare Disease research. Our colleagues from LTHT NIHR BioResource will be there too with info about how to get involved. #ShowYourRare 🧬

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

New paper co-authored by researchers from Rare Disease @ Leeds. RNAseq Supports the Molecular Genetic Diagnosis of Late-Onset ADA Deficiency. ncbi.nlm.nih.gov/pubmed/30989467

Some exciting new research on Oguchi disease from an international collaboration led by James Poulter and @MrGenePoole from Rare Disease @ Leeds @LeedsMedHealth out today.

And here's another one from Rare Disease @ Leeds, out last month. Comparative proximity biotinylation produces an inventory of RAB18-interactions and implicates RAB18 in cholesterol mobilization in bioRxiv #rarediseases biorxiv.org/content/10.110…

Fantastic to see this article on the lessons learned from analysis of the ciliopathy cohort in the 100,000 Genomes Project by Sunayna Best Johnson Cilia Lab Rare Disease @ Leeds

Great to see this paper out from Christopher Watson and LeedsVisionResearch on the use of long-range Oxford Nanopore sequencing to verify and characterise large deletions identified from exon-based short-read sequencing. Rare Disease @ Leeds #nanopore #RareDisease onlinelibrary.wiley.com/doi/10.1002/mg…

A new #RareDisease paper from James Poulter from Molecular Neuroscience Group @ Leeds identifying and characterising de novo missense mutations in RRAGC as a cause of a fatal mTORopathy of early childhood. sciencedirect.com/science/articl…

De novo missense variants in RRAGC affecting MTORC1- and TFEB-signaling cause an early #mTORopathy with unfavorable prognosis #mtor #cardiomyopathy #corticalmalformation bit.ly/3mI1lQk

Excited to be speaking about the human brain on the 24th May at the Nation of Shopkeepers in Leeds for Pint of Science UK #Pint23 Neuroscience in Leeds. See the full line up and buy tickets here: pintofscience.co.uk/event/mind-won…

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…

Very happy to see this review published, co-authored by two fantastic PhD students from Molecular Neuroscience Group @ Leeds. D-Type Cyclins in Development and Disease mdpi.com/2387968 #mdpigenes via Genes MDPI

Great start to 2024 with our publication describing a recurrent de novo in MAX associated with a syndromic form of macrocephaly and polydactyly in AJHG. Thanks to all our collaborators who contributed to this work and funding from UK Research and Innovation. cell.com/ajhg/fulltext/…

A new North East & Yorkshire Genomics vacancy to work on genomics R&D projects in the NHS. A great opportunity to join the NEY GLH and work Leeds Teaching Hospitals. Please note the rapidly approaching closing date of the 14th February.

Nice feature about recent work published from Molecular Neuroscience Group @ Leeds describing a new genetic disorder due to a recurrent de novo mutation in the MAX gene. James Poulter LIMRLeeds