Today, we presented at the meeting of the Dutch League against Epilepsy and EpilepsieNL, on some of our work on #ReNU syndrome, #SETD1B and #UGP2. Myrrhe Venema and Michela Maresca for their talks both won a Young Investigator Award for clinical and preclinical research, respectively. #proudPI !

New international collaborative work incl. our group on VPS16, just published in Movement Disorders #dystonia #genetics #raredisease movementdisorders.onlinelibrary.wiley.com/doi/10.1002/...

📢🧬 Next in the speaker line-up for #Embryo2026 is @eileen-furlong.bsky.social from @embl.org who will present her research on "Genome regulation during embryogenesis: Going loopy about enhancer regulation" Register until Oct 31! 👇 www.molgen.mpg.de/embryo2026 Supported by the Weizmann Institute

New paper from our ultra-rapid WGS project published @ejhg-journal.bsky.social : "Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making" #raredisease #WGS @nanoporetech.com @erasmusmc.bsky.social www.nature.com/articles/s41...

Very nice paper showing that many enhancers can function as enhancers even when lacking H3K27ac. Also nice to see lots of our 2018 Cell Stem Cell paper findings confirmed as well! And always nice to see the utility of STARR-seq. More on that to be followed shortly as well from us :)

Come join us in Geneva for everything epigenetics and gene regulation. It will be a great meeting! Please repost! www.keystonesymposia.org/conferences/...

new international collaborative work incl. our group on EPG5 #genetics, #raredisease #EPG5, #NDD onlinelibrary.wiley.com/doi/10.1002/...

new recent publication from us in Rotterdam on RNA analysis for rare disease diagnostics #genetics #RNA #raredisease @hggadvances.bsky.social @erasmusmc.bsky.social

and some more new work incl. us in @hggadvances.bsky.social

📣New from Ferraro et al! 📄Long-read DNA and RNA sequencing reveal an intronic retrotransposon insertion in TCOF1 causing Treacher Collins syndrome 👉 tinyurl.com/59puc9km

New paper from us in Rotterdam: "Long-read DNA and RNA sequencing reveal an intronic retrotransposon insertion in TCOF1 causing Treacher Collins syndrome" www.sciencedirect.com/science/arti... @hggadvances.bsky.social , Federico Ferraro, Tjakko van Ham, Marieke van Dooren and others #lrWGS

Join us today at Sept 23rd2025 from 5pm to 6.30 pm (Central European Time) for our ERN ITHACA webinar on the non-coding genome and human disease by @svergult.bsky.social , @mspielmann.bsky.social , Florence Petit and @stefanbarakat.bsky.social ern-ithaca.eu/events-news/...

It took a while, but finally the Barakat lab is also on Bluesky! Come and follow us if you are interested in our research on genetic causes of neurodevelopmental disorders, the noncoding genome, functional genomics and much more happening in Rotterdam!

New international collaborative work incl. our group @erasmusmc.bsky.social on MACF1 published @ajhgnews.bsky.social A clinical and genotype-phenotype analysis of MACF1 variants www.sciencedirect.com/science/arti... #raredisease #genetics

Thanks for highlighting our recent paper on the clinical utility of DNAmethylation signatures @eshg.bsky.social #raredisease #genetics #genomics #epigenetics

Published in EJHG Journal: 📊 DNAmethylation signatures support VUS reclassification and complement negative genetic tests. This approach boosts diagnostic yield in neurodevelopmental disorders, proving its clinical utility in routine diagnostics. ✅ www.nature.com/articles/s41...