Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD

Riccardo Sangermano(Radboud University Nijmegen), Kinga M. Bujakowska(Massachusetts Eye and Ear Infirmary), Anne B. Fulton(Boston Children's Hospital), Anna Larson(Massachusetts Eye and Ear Infirmary), Naomi E. Wagner(Massachusetts Eye and Ear Infirmary), Erin Zampaglione(Massachusetts Eye and Ear Infirmary), Ana Berta Sousa(Administração Regional de Saúde de Lisboa e Vale do Tejo), Tamar Ben‐Yosef(Technion – Israel Institute of Technology), Mariana Neves(Centro Hospitalar Lisboa Norte), Dror Sharon(Hebrew University of Jerusalem), Rachel M. Huckfeldt(Penn Presbyterian Medical Center), Vincent Dunet(University Hospital of Lausanne), Eyal Banin(Hebrew University of Jerusalem), Eric A. Pierce(Broad Institute), Virginie G. Peter(University Hospital of Bern), Alaa AlTalbishi(Hebrew University of Jerusalem), Rola Ba‐Abbad(Moorfields Eye Hospital), Mathieu Quinodoz(University of Leicester), Boris Rosin(Hebrew University of Jerusalem), Michel Michaelides(Moorfields Eye Hospital), Gavin Arno(Greenwood Genetic Center), Emily Place(MACOM (United States)), Iris Deitch(Massachusetts Eye and Ear Infirmary), Andrew R. Webster(Moorfields Eye Hospital), Carlo Rivolta(University of Lausanne)
npj Genomic Medicine
June 29, 2021
Cited by 23


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