Novel Biallelic Variants and Phenotypic Features in Patients with <i>SLC38A8</i>-Related Foveal Hypoplasia

by Elena R. Schiff, Vijay K. Tailor, Hwei Wuen Chan, Maria Theodorou, Andrew R. Webster, Mariya Moosajee
Published 2021-01-01

Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism

by Hwei Wuen Chan, Elena R. Schiff, Vijay K. Tailor, Samantha Malka, Magella M. Neveu, Maria Theodorou, Mariya Moosajee
Published 2021-03-01

Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease

by Mubeen Khan, Gavin Arno, Ana Fakin, David A. Parfitt, Patty P.A. Dhooge, Silvia Albert, Nathalie M. Bax, Lonneke Duijkers, Michael Niblock, Kwan L. Hau, Edward Bloch, Elena R. Schiff, Davide Piccolo, Michael C. Hogden, Carel B. Hoyng, Andrew R. Webster, Frans P.M. Cremers, Michael E. Cheetham, Alejandro Garanto, Rob W.J. Collin
Published 2020-09-01