Our #ASHG2026 No. presentations: 3 No. times we (almost) lost the poster tube: 5 No. times we didn’t follow Google Maps and got lost: … How much we enjoyed Montréal: 10/10
Fabiola Ceroni
@ceronifabiola.bsky.social
Human geneticist | rare disorders | eye development
When you are drafting a manuscript and suddenly remember the journal word count for short reports
The #2026GoODMeting is over after two days of fascinating talks on new genes, new models and therapeutic approaches to developmental eye disorders. It is so nice to be part of such a vibrant community! Looking forward to next year 🚀 @eyegenes.bsky.social
Montréal and its beautiful colours have welcomed the #2026GoODMeeting! Looking forward to a second day of exciting talks
KDM2B or Not to Be 👀 Are structural eye anomalies part of the KDM2B clinical spectrum? We report 2 new cases with variants in the CxxC domain and congenital eye anomalies, supporting inclusion of KDM2B in diagnostic panels for #anophthalmia #microphthalmia #coloboma www.nature.com/articles/s41...
The 7th GoOD (Genetics of Ocular Development) Meeting will take place in Montreal, Canada on 19 and 20 October 2026, ahead of the ASHG annual meeting. More information on www.goodsoc.org
The #GoOD2025 meeting is over, it was sooo good to catch up with these lovely people and hear about their fantastic work! Thanks to @elfridedebaere.bsky.social and her team for organising such an amazing event in beautiful Ghent. We had a lot of fun and hope to be back soon!! #goodsocmeeting2025
Great start of the week with a day full of talks at the UK EGG meeting 2025! Our PhD student Karthikah Jaganathan also presented a case with a mosaic RASopathy and #microphthalmia 🧩👁️
🎉We are very happy to see our new study on GJA8 published on EJHG! 🔎A great collaboration led by our postdoc @smerepa.bsky.social highlighting new GJA8 cases with microphthalmia, sclerocornea and congenital cataract! www.nature.com/articles/s41...
Today is #RareDiseaseDay and we want to take this chance to thank all the amazing families involved in our research on anophthalmia, microphthalmia and coloboma. We feel incredibly privileged to be part of their journey! 🌟
