Congrats to Eva Medico Salsench from our lab for successfully defending her PhD thesis last week: "Precision Medicine for Rare Neurogenetic Disorders: from aquarium to bedside" #proudPI, #genetics #diseasemodelling @erasmusmc.bsky.social @erasmusuniversity.bsky.social

New international collaborative work (incl us) just out in @natgenet.nature.com showing how dominant variants in RNU genes like RNU4-2 can also cause Retinitis Pigmentosa Mathieu Quinodoz, Kim Rodenburg, Susanne Roosing, @carlorivolta.bsky.social & many others www.nature.com/articles/s41...

still time to apply till early January, spread the news!

Some more media attention yesterday in the Dutch press @pzc.bsky.social about our research into causes of hereditary disease hidden in the noncoding genome. www.pzc.nl/schouwen-dui...

Yesterday I explained on the local radio the added value of DNA diagnostics for rare diseases, and how we are now able to find mutations in the dark matter of the human genome that can cause disease. The interview (in Dutch) is available via: www.radiosd.nl/nieuwsberich...

We are hiring! Are you looking for a challenging PhD project studying neurodevelopmental disorders related to chromatin dysfunction, using in vitro stem cell based models, multi-omics and functional studies? Then check out the vacancy! #phd #vacancy www.werkenbijerasmusmc.nl/en/vacancy/1...

Very grateful to colleagues including @rdexeter.bsky.social, @nihrexeterbrc.bsky.social, @stefanbarakat.bsky.social, the NHS Rare & Inherited Disease Genomic Network of Excellence, and to the patients and families who made this work possible. 🙏 Paper: pubmed.ncbi.nlm.nih.gov/41349538/

Our new study defines a distinct #neurogenetic condition arising from recurrent structural variants at 16p13.3 palindrome. Individuals show progressive ataxia, cognitive decline, and a characteristic MRI pattern with caudate & cerebellar atrophy. #Genomics #RareDisease 🧵1/3

another great international collaboration with our friends in UK and Australia to which we could contribute, describing a very unique disease mechanism for a novel neurodegenerative disorder #genetics #raredisease @ajhgnews.bsky.social @jamesfasham.bsky.social @rdexeter.bsky.social

Cool work as usual, @elphegenoralab.bsky.social , congrats!

More international collaborative work: Single nucleotide variants in UNC13C associated with neurodevelopmental disorders affect ethanol sensitivity in Drosophila #raredisease #morbidgene #genetics #diseasemodelling www.sciencedirect.com/science/arti...

🧠🧲 BRAIN-MAGNET: A functional genomics atlas for interpretation of non-coding variants 💡 Fantastic initiative from the Barakat Lab 👀 Great to have a sneak peak at #MDC25 🧬 Predicts enhancer activity from DNA sequence 🕵️‍♂️ Prioritises functional non-coding variants 👇🧵 Check it out

Onderzoekers van Erasmus MC gebruiken kunstmatige intelligentie om verborgen schakelaars te zoeken in het DNA. Die aanpak kan mensen met een zeldzame genetische aandoening alsnog een diagnose bezorgen. amazingerasmusmc.nl/genetica/ai-...

if you would like to read more on BRAIN-MAGNET in the popular press, have a look at the link below!

BRAIN-MAGNET: A functional genomics atlas for interpretation of non-coding variants @cellcellpress.bsky.social www.cell.com/cell/fulltex... @ruizhideng.bsky.social

happy to see our latest paper finally online!

Very pleased to share our latest paper published in Cell: BRAIN-MAGNET: A functional genomics atlas for interpretation of non-coding variants: Cell www.cell.com/cell/fulltex... @cellpress.bsky.social, @cp-cell.bsky.social, @ruizhideng.bsky.social #enhancer here is a thread about our findings:

Now online! Ancient RNA expression profiles from the extinct woolly mammoth

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...