Robyn V. Jamieson - Embryology Unit, Children's Medical Research Institute

Eden G Robertson,Kate Hetherington,Meredith Prain, Julia Hall, Leighton Boyd Am, Rosemary Boyd Oam, Emily Shepard, Hollie Feller, Sally Karandrews,Fleur O'Hare, Kanae Yamamoto,Matthew P Simunovic,Robyn V Jamieson,Alan Ma, Lauren Ayton Am, Anai Gonzalez-Cordero

The Medical journal of Australiano. 7 (2025): 324-326

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Longitudinal Study in Autosomal Recessive PROM1 Inherited Retinal Disease

William B Yates, John R Grigg, Benjamin M Nash,Alan Ma, Sulekha Rajagopalan,Bernadette Hanna,Robyn V Jamieson

Ophthalmic geneticspp.1-14, (2025)

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THE FIGHT INHERITED RETINAL BLINDNESS! PROJECT: A NEW TREATMENT OUTCOME AND NATURAL HISTORY REGISTRY FOR INHERITED RETINAL DISEASE

Matthew P Simunovic,Anthony T Moore,John Grigg,Panagiotis Sergouniotis,Omar A Mahroo,Andrea Vincent,Mandeep Singh,M Dominik Fischer,Thomas Edwards,Heather Mack, Michael Hogden, Fred K Chen,Alex Hewitt,Lauren Ayton,Bart Leroy,Robyn Jamieson,Mark C Gillies,Daniel Barthelmes

Retina (Philadelphia, Pa)no. 2 (2025): 286-295

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Solving Cryptic Variants in the Inherited Retinal Dystrophies (Irds)

Robyn V. Jamieson

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCEno. 7 (2024)

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Enhancing Variant Curation Guidelines to Optimize Clinical Genetic Testing for ABCA4 Retinopathies Utilizing the ClinGen Framework

Kristy Lee,Amber Waddell, C. Blair Compton,Stephanie S. Cornelis,Amy Dameron,Marieke De Bruyne,Miriam Bauwens,Mathieu Quinodoz,Eva Lenassi,Robyn Jamieson, Claire-Marie Dhaenhens,Andrea L. Vincent, Abby T. Fahim,Frans Cremers,Elfride De Baere,Robert Hufnagel

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCEno. 7 (2024)

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Retinal Dystrophies Associated with Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCEno. 5 (2024)

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Ciliopathy Pathways and Biomarkers in IRD Variant Characterisation and Therapy Steps in Retinal Organoids

Robyn V. Jamieson,To Ha Loi,Anson Cheng,Anai Gonzalez-Cordero,John R. Grigg,Nader Aryamanesh, Hani Kim,Pengyi Yang,Benjamin Nash

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCEno. 7 (2024)

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