Biallelic null variants in C19orf44 cause a unique late-onset retinal dystrophy phenotype characterized by patchy perifoveal chorioretinal atrophy

Miriam Ehrenberg(Massachusetts Eye and Ear Infirmary), Tamar Ben‐Yosef(Technion – Israel Institute of Technology), Riccardo Sangermano(Radboud University Nijmegen), Carlo Rivolta(University of Lausanne), Tahleel Ali-Nasser(Technion – Israel Institute of Technology), Dinah Zur(Tel Aviv University), Siying Lin(Moorfields Eye Hospital NHS Foundation Trust), Dror Sharon(Hebrew University of Jerusalem), Katherine R. Chao(Broad Institute), Eyal Banin(Hebrew University of Jerusalem), Hadas Newman(Tel Aviv Sourasky Medical Center), Eric A. Pierce(Broad Institute), Ygal Rotenstreich(Tel Aviv University), Antonio Rivera(Hebrew University of Jerusalem), Abigail R. Moye(University of Basel), Gavin Arno(Greenwood Genetic Center), David Gurwitz(Tel Aviv University), Eran Pras(Tel Aviv University), Ifat Sher(Tel Aviv University), Andrew R. Webster(Moorfields Eye Hospital), Maayan Avraham(Technion – Israel Institute of Technology), Leah Rizel(Technion – Israel Institute of Technology), Sandeep Sarma Asodu(Hebrew University of Jerusalem), Kinga M. Bujakowska(Massachusetts Eye and Ear Infirmary)
Genetics in Medicine
March 10, 2025
Cited by 4


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