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4 in total

1. Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature.

Authors: Neringa Jurkute; Priya D Shanmugarajah; Marios Hadjivassiliou; Jenny Higgs; Miodrag Vojcic; Iain Horrocks; Yann Nadjar; Valerie Touitou; Guy Lenaers; Roy Poh; James Acheson; Anthony G Robson; F Lucy Raymond; Mary M Reilly; Patrick Yu-Wai-Man; Anthony T Moore; Andrew R Webster; Gavin Arno
Journal: Invest Ophthalmol Vis Sci Date: 2021-05-03 Impact factor: 4.799

Review 2. Mitochondrial Retinopathies.

Authors: Massimo Zeviani; Valerio Carelli
Journal: Int J Mol Sci Date: 2021-12-25 Impact factor: 5.923

3. SSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive Inheritance.

Authors: Neringa Jurkute; Fabiana D'Esposito; Anthony G Robson; Robert D S Pitceathly; Francesca Cordeiro; F Lucy Raymond; Anthony T Moore; Michel Michaelides; Patrick Yu-Wai-Man; Andrew R Webster; Gavin Arno
Journal: Invest Ophthalmol Vis Sci Date: 2021-12-01 Impact factor: 4.799

4. A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families.

Authors: Mazhor Aldosary; Maysoon Alsagob; Hanan AlQudairy; Ana C González-Álvarez; Stefan T Arold; Mohammad Anas Dababo; Omar A Alharbi; Rawan Almass; AlBandary AlBakheet; Dalia AlSarar; Alya Qari; Mysoon M Al-Ansari; Monika Oláhová; Saif A Al-Shahrani; Moeenaldeen AlSayed; Dilek Colak; Robert W Taylor; Mohammed AlOwain; Namik Kaya
Journal: Cells Date: 2022-10-07 Impact factor: 7.666

4 in total