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Posts by eyegenes

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🧬 Abstract submissions are now open for #ASHG26

Share your discoveries, connect with the global human genetics and genomics community, and help drive real‑world impact. Submissions are due May 18.

Submit now: ashgmeeting.ashg.org/programs/abs...

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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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Microscopy image of the optic fissure in human embryos

Microscopy image of the optic fissure in human embryos

How do YAP1 variants cause ocular coloboma? 👁️

Coloboma is a congenital eye disorder caused by a tissue fusion defect, affecting ~1 in 5000 births and leading to visual impairment.

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Excited to participate in this meeting. Promises to be a very interesting event, consider joining us!!

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We are looking forward to invited talks from @michelcayouette.bsky.social (McGill University, Montreal, Canada), Elise Heon (Sick Kids Hospital Toronto, Canada) and Brian Brooks (National Eye Institute, Bethesda, Maryland, USA)!

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This meeting is a fantastic opportunity for scientists and clinicians involved in the genetic research into eye anomalies, therapeutics and patient care to hear about the latest developments in the field and establish new research opportunities and collaborations.

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

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

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