Intragenic loss-of-function variants in transcription factors MAZ, FOXP1 and SIN3B in colobomatous microphthalmia #RareDisease #Genetics #morbidgene jmg.bmj.com/content/earl...

A next-generation episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicine #RareDisease #Genetics www.cell.com/ajhg/abstrac...

Excited to share our new manuscript! Why do people with Bosma #arhinia microphthalmia syndrome (BAMS) not form noses? We show that #iPSCs from these patients are less able to form cranial placode cells, one of the cell types that make up the nose. www.cell.com/stem-cell-re...

🧬 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...

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...

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.

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

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