James Poulter
@japoulter.bsky.social
Associate Professor of Genomic Medicine at the University of Leeds.
Reposted by James Poulter
🚨🔥LSCN's "Breaking Barriers in Cell Biology Workflows" is on Wed 19th Nov.
Learn groundbreaking discoveries and the newest cutting-edge technology !👇
🔗https://www.eventbrite.co.uk/e/lscn-workshop-breaking-barriers-in-cell-biology-workflows-tickets-1600912605699?aff=oddtdtcreator
Learn groundbreaking discoveries and the newest cutting-edge technology !👇
🔗https://www.eventbrite.co.uk/e/lscn-workshop-breaking-barriers-in-cell-biology-workflows-tickets-1600912605699?aff=oddtdtcreator
November 17, 2025 at 11:16 AM
🚨🔥LSCN's "Breaking Barriers in Cell Biology Workflows" is on Wed 19th Nov.
Learn groundbreaking discoveries and the newest cutting-edge technology !👇
🔗https://www.eventbrite.co.uk/e/lscn-workshop-breaking-barriers-in-cell-biology-workflows-tickets-1600912605699?aff=oddtdtcreator
Learn groundbreaking discoveries and the newest cutting-edge technology !👇
🔗https://www.eventbrite.co.uk/e/lscn-workshop-breaking-barriers-in-cell-biology-workflows-tickets-1600912605699?aff=oddtdtcreator
Reposted by James Poulter
New finding from FranMartinezGr on Twitter/X! ift.tt/InczAmH
RP9 revisited; RP9 p.(H137L) remains a likely cause of dominant splicing factor-Retinitis Pigmentosa #RareDisease #Genetics #morbidgene
RP9 revisited; RP9 p.(H137L) remains a likely cause of dominant splicing factor-Retinitis Pigmentosa #RareDisease #Genetics #morbidgene
RP9 revisited; RP9 p.(H137L) remains a likely cause of dominant splicing factor-Retinitis Pigmentosa
Variants in six pre-mRNA processing factors cause autosomal dominant Retinitis Pigmentosa (adRP). The RP9 gene encodes a seventh splicing factor, and in 2002, we published RP9 variants c.410A>T; p.(H137L)...
t.co
October 26, 2025 at 6:14 PM
New finding from FranMartinezGr on Twitter/X! ift.tt/InczAmH
RP9 revisited; RP9 p.(H137L) remains a likely cause of dominant splicing factor-Retinitis Pigmentosa #RareDisease #Genetics #morbidgene
RP9 revisited; RP9 p.(H137L) remains a likely cause of dominant splicing factor-Retinitis Pigmentosa #RareDisease #Genetics #morbidgene
Reposted by James Poulter
Amazing presentations from Dr Julia Gala de Pablo and Dr Ruth Hughes on high resolution imaging methodologies for organoids and disease models 🤩🔬
June 5, 2025 at 1:37 PM
Amazing presentations from Dr Julia Gala de Pablo and Dr Ruth Hughes on high resolution imaging methodologies for organoids and disease models 🤩🔬
Reposted by James Poulter
NEW RESEARCH—A retrospective cohort study from the UK reports treatment outcomes of targeted therapies in patients with #VEXAS syndrome thelancet.com/journals/lan...
Plus linked Comment www.thelancet.com/journals/lan...
#Medsky #Rheumsky
Plus linked Comment www.thelancet.com/journals/lan...
#Medsky #Rheumsky
May 29, 2025 at 9:57 AM
NEW RESEARCH—A retrospective cohort study from the UK reports treatment outcomes of targeted therapies in patients with #VEXAS syndrome thelancet.com/journals/lan...
Plus linked Comment www.thelancet.com/journals/lan...
#Medsky #Rheumsky
Plus linked Comment www.thelancet.com/journals/lan...
#Medsky #Rheumsky
Reposted by James Poulter
First up: Mathieu Quinodoz, variants in RNU4-2 and 4 U6 genes cause dominant retinitis pigmentosa - 1.4% of undiagnosed.
Likely a different mechanism than NDD - delayed tri-snRNP formation.
Preprint: www.medrxiv.org/content/10.1...
@carlorivolta.bsky.social @susanneroosing.bsky.social #eshg2025
Likely a different mechanism than NDD - delayed tri-snRNP formation.
Preprint: www.medrxiv.org/content/10.1...
@carlorivolta.bsky.social @susanneroosing.bsky.social #eshg2025
www.medrxiv.org
May 25, 2025 at 8:45 AM
First up: Mathieu Quinodoz, variants in RNU4-2 and 4 U6 genes cause dominant retinitis pigmentosa - 1.4% of undiagnosed.
Likely a different mechanism than NDD - delayed tri-snRNP formation.
Preprint: www.medrxiv.org/content/10.1...
@carlorivolta.bsky.social @susanneroosing.bsky.social #eshg2025
Likely a different mechanism than NDD - delayed tri-snRNP formation.
Preprint: www.medrxiv.org/content/10.1...
@carlorivolta.bsky.social @susanneroosing.bsky.social #eshg2025
Reposted by James Poulter
Release announcement from T2T consortium!
humanpangenome.org/hprc-data-re...
#ESHG2025. Combining @nanopore @pacbio and @illumina data to improve the T2T pangenome 🧬
humanpangenome.org/hprc-data-re...
#ESHG2025. Combining @nanopore @pacbio and @illumina data to improve the T2T pangenome 🧬
HPRC Data Release 2
HPRC Data Release 2
humanpangenome.org
May 24, 2025 at 12:49 PM
Release announcement from T2T consortium!
humanpangenome.org/hprc-data-re...
#ESHG2025. Combining @nanopore @pacbio and @illumina data to improve the T2T pangenome 🧬
humanpangenome.org/hprc-data-re...
#ESHG2025. Combining @nanopore @pacbio and @illumina data to improve the T2T pangenome 🧬
Reposted by James Poulter
New genomic & genetic insights into Mendel’s pea genes, including previously uncharacterised alleles
159 years after Mendel published his work, this is a real delight (especially for a geneticist)
🧪
@nature.com
www.nature.com/articles/s41...
159 years after Mendel published his work, this is a real delight (especially for a geneticist)
🧪
@nature.com
www.nature.com/articles/s41...
Genomic and genetic insights into Mendel’s pea genes - Nature
Characterization of the genetic architecture underlying the 7 pairs of contrasting traits studied by Mendel and the over 70 additional agronomic traits in pea (Pisum sativum) reveals their m...
www.nature.com
April 24, 2025 at 5:38 AM
New genomic & genetic insights into Mendel’s pea genes, including previously uncharacterised alleles
159 years after Mendel published his work, this is a real delight (especially for a geneticist)
🧪
@nature.com
www.nature.com/articles/s41...
159 years after Mendel published his work, this is a real delight (especially for a geneticist)
🧪
@nature.com
www.nature.com/articles/s41...
Reposted by James Poulter
Hello, @eshgyoung community! 👋 We're excited to be here and continue connecting with you all! Let’s grow, learn, and share together! @eshg.bsky.social
March 24, 2025 at 10:47 PM
Hello, @eshgyoung community! 👋 We're excited to be here and continue connecting with you all! Let’s grow, learn, and share together! @eshg.bsky.social