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It is time to wrap up #ASHG24. What an inspiring week in Denver with amazing science and #HumanGenetics enthusiasts from all continents. It was a pleasure to serve on the ASHG Programme Committee! See you next year in Boston! #ASHG24 #ASHG25

Mixing with #noncoding enthusiasts! Nicky Whiffin Stefan Barakat Carla Oliveira’s Lab Sarah Vergult Carlo Rivolta #ASHG24

And with seasoned and new members of ASHG Committees Peter H. Byers Isabelle Schrauwen Isabelle Schrauwen #ASHG24

Did anyone tell you before how nice #Denver downtown is on a sunny November afternoon? #ASHG24

New work from us @Erasmusgenetica showing how clinical RNA-seq can help to diagnose an ultra-rare genetic disorder. Myrrhe Venema, Fatimah Albuainain, Rachel Schot, Bob Roozenbeek, Frank Sleutels, Tjakko van Ham, Stefan Barakat Erasmus MC #genetics onlinelibrary.wiley.com/doi/10.1111/cg…

new collaborative work incl. our group: Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder - Genetics in Medicine gimjournal.org/article/S1098-…

New collaborative work of us, led by Maria Alves @Erasmusgenetica #singlecell #raredisease Human enteric glia diversity in health and disease: new avenues for treatment of Hirschsprung disease sciencedirect.com/science/articl…

A thread on some of the fascinating noncoding genetic discoveries from 2024. I've written long form posts and discussed on The Genetics Podcast about these stories. I'll share links to all below with a brief summary.

looking forward to be amongst the speakers at this meeting!

New work from our group lead by Virginie Verhoeven and Milly Tedja: A genome-wide scan of non-coding RNAs and enhancers for refractive error and myopia link.springer.com/article/10.100… #noncoding #generegulation Erasmus MC

New international collaborative work published in AJHG, identifying pathogenic variants in PPP2R5C as a cause of a novel neurodevelopmental disorder sciencedirect.com/science/articl… Sofia Douzgou Houge, Peter Krawitz, Iris Verbinnen, Veerle Janssens & many others

thanks for having me for the key note lecture!

New international collaborative work incl. our discovery team describing mutations in the noncoding gene RNU2-2 as a cause of a neurodevelopmental disorder #ErasmusMC Mount Sinai Genetics Nature Genetics #WGS #epilepsy #NDD #ReNUSyndromeUnited #morbidgene nature.com/articles/s4158…

new international collaborative work incl. our group on histonopathies #raredisease #morbidgene #genetics #genomics #epigentics

We would be happy to support and host succesful applicants, so if you are interested in genetics, functional genomics, gene regulation, the noncoding genome and how that all relates to human disease, feel free to reach out! #postdoc #job #Rotterdam #academia

New international collaborative work incl our group on RNU4-2 and RNU5B-1 and their roles in neurodevelopmental disorders Nature Genetics #ReNU syndrome nature.com/articles/s4158…

C11.02 Yuwei Shi @erasmusmc.bsky.social #ESHG2025 #SETD1B variants drive NDDs and epilepsy RNASeq in neural stem cells Electrophysiology of patient iPSC SET1B affect network burst in AMPA/NMDA receptor -? drug target SET1B can differentiate into cortical organoids

Yuwei Shi from our lab presenting our large scale #SETD1B study with more than 70 patients, lots of iPSCs, induced neurons and organoids at #eshg2025 #genes #ndd #epilepsy #proudPI