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ARVO Annual Meeting Abstract June 2021

Long-read technologies unravel hidden inversion-duplication in a family with choroideremia

Susanne Roosing; Zeinab Fadaie; Tuomo Mantere; Ronny Derks; Amber den Ouden; Michael Kwint; Luke O'Gorman; Dyon Valkenburg; Carel Hoyng; Christian Gilissen; Lisenka E.L.M. Vissers; Marcel Nelen; Frans P.M. Cremers; Kornelia Neveling; Alexander Hoischen

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1.

ARVO Annual Meeting Abstract July 2018

In-silico prediction of novel splice altering variants in the myocilin gene in primary open angle glaucoma.

Angela Cree; Luke O'Gorman; Helen Griffiths; Andrew Lotery; Jane Gibson; Sarah Ennis

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):5138.

ARVO Annual Meeting Abstract July 2018

The contribution of common population variants to hypomorphic oculocutaneous albinism phenotypes: a novel tri-allelic TYR genotype

Chelsea Sarah Norman; Luke O'Gorman; Jane Gibson; Reuben J Pengelly; Diana Baralle; J. Arjuna Ratnayaka; Sarah Ennis; James E Self

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):5784.

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