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Fabiola Ceroni

@ceronifabiola.bsky.social

46 followers 163 following 9 posts

Human geneticist | rare disorders | eye development

Posts Replies Media

Fabiola Ceroni @ceronifabiola.bsky.social · 10/04/2026

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...

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Reposted by Fabiola Ceroni

eyegenes.bsky.social @eyegenes.bsky.social · 09/04/2026

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

Flyer announcing the 7th Genetics of Ocular Development (GoOD) Meeting, to be held in Montreal, Canada on 19 and 20 October 2026

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Fabiola Ceroni @ceronifabiola.bsky.social · 10/09/2025

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

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Fabiola Ceroni @ceronifabiola.bsky.social · 16/06/2025

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 🧩👁️

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Fabiola Ceroni @ceronifabiola.bsky.social · 01/05/2025

Just another day at Oxford Brookes 🦙

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Fabiola Ceroni @ceronifabiola.bsky.social · 30/04/2025

🎉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...

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Fabiola Ceroni @ceronifabiola.bsky.social · 01/03/2025

🥁 Ready to have fun with DNA , Braille and Legos at the #BrookesBazaar25! 😍

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Fabiola Ceroni @ceronifabiola.bsky.social · 28/02/2025

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! 🌟

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Fabiola Ceroni @ceronifabiola.bsky.social · 14/12/2024

Oxford was just gorgeous today!

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Fabiola Ceroni @ceronifabiola.bsky.social · 29/11/2024

Office all prepped for Christmas ✨

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