PhD student Rocío Pérez Baca gave an excellent presentation concerning our ZFHX4 project. Well done, Rocío 👏🏻! If you have interesting patients, do not hesitate to contact Rocío Pérez Baca, María Palomares, Sarah Vergult or Bert Callewaert #ESHG2023

So proud of this incredible work and a even more incredible collaboration!

A talk with impact, elegantly delivered by Michiel Vanhooydonck, a fantastic PhD student in my lab! #ESHG2023

Congrats, Wouter! Well done and deserved!

And the review is here: ATP7A-related copper transport disorders: A systematic review and definition of the clinical subtypes S. De Feyter, A. Beyens, Bert Callewaert doi.org/10.1002/jimd.1…

Between work, I must say I am so proud of my daughter Amber who became 2nd at the European Dance Waves Competition in Terneuzen today! De!bewegingsstudio by DEBorah Verhasselt!

🧬 Dermatologen, kinderartsen en klinisch genetici, duik in de wereld van de zeldzame huidziekten met het symposium 'Dermatogenetica: Genodermatosen - multidisciplinariteit is de sleutel'. 👉 9/12/23 Stad Gent 👇 meer info Artsenkrant UGent Geneeskunde & Gezondheidswetenschappen UGent uzgent.be/agenda/symposi…

For our friends who aren't part of the Myhre family, we've got an extra sprinkle of excitement just for you! 🎉 Introducing the Myhre Super Supporter Raffle! 🌟 You can snag a raffle ticket for our virtual conference for just $10. give.classy.org/msfvirtual23

Calling all rare disease researchers, on 14 October, hear from Bert Callewaert and @MarkELindsay, who will be giving updates on connective tissue research in zebrafish and mouse models. give.classy.org/msfvirtual23 email [email protected] for a discount code.

Academic clinician–scientists risk becoming an endangered species. World View from stephen o'rahilly (its pronounced O-RA-hill-EEE) Cambridge University nature.com/articles/s4159…

“This award results from a continuous commitment by MarfanFdn to support research. Being a grantee provides me & my team with energy & a strong belief that our research matters!" Learn more about the new research grants our supporters help make possible! marfan.org/2023/11/20/fou…

🚨 Online now! 📰Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability 🧑‍🤝‍🧑Sarah Vergult Bert Callewaert & colleagues cell.com/ajhg/abstract/…

After a 6 yr long journey, we ended the diagnostic oddysey for many individuals with ZFHX3 loss of function variants. It was a fantastic journey with many international and wonderful colleagues! Great collaboration with Sarah Vergult and FunGen Lab @ UGent! There's more to come! AJHG

An adult (6 mpf) #Zebrafish model of #AorticDissection #AorticRupture (without #AorticAneurysm) Quadriple smad3a/3b/smad6a/6b crispant 🐟Aortic #FalseLumen for 1st time 👏👏👏 ⏬Aortic diameter+length ⏫Aortic tortuosity Aortic wall thinning + Elastin loss + subendothelial

Maria João Pires didn’t realise she had prepared the wrong Mozart piano concerto until the orchestra started playing, to a live audience. Joanna Gosling asked what was really going through her mind, at that moment... classicfm.com/artists/maria-… classicfm.com/artists/maria-…

Join us for our yearly meeting organized by the Leuven team!

Poster price to Lisa Haemerlynck! Congrats!

Our neighbours have a genetics society for 75 years! Join the special edition meeting and send your abstract in! Mieke Van haelst BeSHG

We kicked off the 2nd world congress on rare skin diseases in Paris with a wonderful overview of the role of elastic fibers in skin biology by Gerhard Sengle!

#MyhreSyndrome in Adulthood #SMAD4 N=24 9x R496C 14x I500 variants 1x unknown? Genotype-Phenotype associations 6 with progressive arterial (incld. Thoracic/Abdominal Aorta) stenosis 9 with cardiac diseases Face2Gene - #FacialGenotyping face2gene.com Use AI to