Roy Quinlan

9PUBLICATIONS
14CO-AUTHORS
Vision scienceStructural properties of condensed matterGene mappingMechanobiologyNeurogenetics
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Publications (9)

|Jul 03, 2024
A novel frameshift variant in <i>BCOR</i> causes congenital nuclear cataract.

Vanita Berry, Manav B Ponnekanti, Nikolas Pontikos

|Jun 19, 2024
Inhibition of PDIs Downregulates Core LINC Complex Proteins, Promoting the Invasiveness of MDA-MB-231 Breast Cancer Cells in Confined Spaces In Vitro.

Natalie Young, Zizhao Gui, Suleiman Mustafa

|Jul 26, 2023
Multimorbidity due to novel pathogenic variants in the <i>WFS1/RP1/NOD2</i> genes: autosomal dominant congenital lamellar cataract, retinitis pigmentosa and Crohn's disease in a British family.

Vanita Berry, Alexander Ionides, Michalis Georgiou

|Jun 28, 2023
Independent Membrane Binding Properties of the Caspase Generated Fragments of the Beaded Filament Structural Protein 1 (BFSP1) Involves an Amphipathic Helix.

Miguel Jarrin, Alexia A Kalligeraki, Alice Uwineza

|May 10, 2020
Whole Exome Sequencing Reveals Novel and Recurrent Disease-Causing Variants in Lens Specific Gap Junctional Protein Encoding Genes Causing Congenital Cataract.

Vanita Berry, Alex Ionides, Nikolas Pontikos

|Nov 05, 2019
Site-specific phosphorylation and caspase cleavage of GFAP are new markers of Alexander disease severity.

Rachel A Battaglia, Adriana S Beltran, Samed Delic

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Frequent Collaborators

2 joint publications

Nikolas Pontikos

2 joint publications

Vanita Berry

1 joint publications

Victoria J Madden

1 joint publications

Natasha T Snider