Check out poster by Bernardo Souza Mendes at #ARVO2024! B0111: Extending Eye2Gene to Quantify the Phenotypic Diversity and Similarity of 63 Inherited Retinal Diseases using an Embedding Approach Time: Wed May 08 10:30am-12:15pm Location: Exhibit Hall-Seattle Convention Center

#ARVO2024 come and talk to me at my poster B0143 to hear about our work on nanopore sequencing of transcript amplicons to resolve variants of uncertain significance in USH2A #USH2A #ushersyndrome Oxford Nanopore UCL Institute of Ophthalmology

We're seeking a Research Fellow to join Dr Rodrigo Young & explore genes linked to human eye globe defects. Work with world-class researchers at UCL & IoO, mastering microscopy, bioinformatics, & genome editing. Closing date 15 May. #ResearchFellowship bit.ly/3URtfaO

Hi folks, our team UCL Institute of Ophthalmology in London is growing. If you're at the postdoc stage and are interested in the mechanisms that control eye development, growth and disease, apply in this link... thenode.biologists.com/jobs/postdoc-r… UCL Moorfields Eye Charity #Zebrafish

Apply for this post and work with one of my favorite people at UCL Institute of Ophthalmology .. an awesome opportunity!!

Out now in Brain the NEI led study of the PNPLA6 genotype:phenotype spectrum. Well done to Medical Genetics & Ophthalmic Genomics et al. doi.org/10.1093/brain/… pres release: nih.gov/news-events/ne…

While I can’t be at Oxford Nanopore #londoncalling2024 #nanoporeconf this year… I will content myself unboxing new toys for my new lab Greenwood Genetic

Happy 4th of July! 🧬🦅🇺🇸

Delighted to welcome Theresa Erlenbach to the JC self Research institute here at Greenwood Genetic to work on our long read sequencing projects aiming to better understand rare disease genetics. Let’s put this Oxford Nanopore P2 to work!

Way up the right hand side of the read data there are a couple of green reads clocking in at over 1Mb! n50 is not too shabby either Theresa Erlenbach Oxford Nanopore #longreads #adaptivesampling

Apply to work with the best there is!

…Just sequencing some zebrafish native RNA here… two things that are new to me in that statement. But, this new RNA minION flowcell is very bright green! Oxford Nanopore Theresa Erlenbach

📢Online now from Malka et al. 📰Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression cell.com/ajhg/fulltext/…

The team at IOB Basel led by Carlo Rivolta discovered more coenzyme Q10 synthesis pathway variants that cause retinitis pigmentosa following on from our work on PDSS1, COQ2, COQ4 and COQ5 in 2022. New paper out now in AJHG kwnsfk27.r.eu-west-1.awstrack.me/L0/https:%2F%2…

My buddy Rodrigo Young is hiring. Don’t sleep on this opportunity!

📢Online now! 📰Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa 🧑‍🤝‍🧑Carlo Rivolta Gavin Arno & co cell.com/ajhg/fulltext/…

We just upped our N50 game! Theresa Erlenbach Matt Loose Oxford Nanopore