Robert S. Molday

University of British Columbia — Canada

Biochemistry, Genetics and Molecular Biology · Life Sciences

83h-index19.6kcitations312works2.52yr avg
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Research Topics

Retinal Development and Disorders(160), Retinal Diseases and Treatments(56), Cellular transport and secretion(47), Photoreceptor and optogenetics research(45), Lipid Membrane Structure and Behavior(32)

Publications312 total

Lipid nanoparticle mediated base editing of the Q344X rhodopsin mutation associated with retinitis pigmentosa
Gene Therapy·2025
Retinal gene therapy for Stargardt disease with dual AAV intein vectors is both safe and effective in large animal models
Science Advances·2025· 9 citedOpen Access
Quantifying the Progression of Stargardt Disease in Double-Null ABCA4 Carriers Using Fundus Autofluorescence Imaging
Translational Vision Science & Technology·2025Open Access
Spatiotemporally resolved transcriptomics reveals the cellular dynamics of human retinal development
Nature Communications·2025· 7 citedOpen Access
Preclinical assessment of splicing modulation therapy for ABCA4 variant c.768G>T in Stargardt disease
Communications Medicine·2025· 3 citedOpen Access
Structural and functional properties of the N- and C-terminal segments of the P4-ATPase phospholipid flippase ATP8A2
Journal of Biological Chemistry·2024· 3 citedOpen Access
Structural and functional characterization of the nucleotide-binding domains of ABCA4 and their role in Stargardt disease
Journal of Biological Chemistry·2024Open Access
Functional Characterization of <i>ABCA4</i> Missense Variants Aids Variant Interpretation and Phenotype Prediction in Patients With ABCA4-Retinal Dystrophies
Investigative Ophthalmology & Visual Science·2024· 1 citedOpen Access
A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changes
Neurogenetics·2024· 3 citedOpen Access
Novel Variants in ABCA4-Related Retinopathies with Structural Re-Assessment of Variants of Uncertain Significance
Ophthalmologica·2024· 1 cited
The Surviving, Not Thriving, Photoreceptors in Patients with ABCA4 Stargardt Disease
Diagnostics·2024· 3 citedOpen Access
A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of <i>ATP8A2</i> -related disorders caused by missense changes
2024Open Access
A Proximity Complementation Assay to Identify Small Molecules That Enhance the Traffic of ABCA4 Misfolding Variants
International Journal of Molecular Sciences·2024· 1 citedOpen Access
Functional and <i>in silico</i> analysis of ATP8A2 and other P4-ATPase variants associated with human genetic diseases
Disease Models & Mechanisms·2024· 6 citedOpen Access
A proximity complementation assay to identify small molecules that enhance the traffic of ABCA4 misfolding variants
2024Open Access
On the track of the lipid transport pathway of the phospholipid flippase ATP8A2 - Mutation analysis of residues of the transmembrane segments M1, M2, M3 and M4
Biochimica et Biophysica Acta (BBA) - Molecular Cell Research·2023· 9 citedOpen Access
A novel missense variant in <scp><i>ATP11C</i></scp> is associated with reduced red blood cell phosphatidylserine flippase activity and mild hereditary hemolytic anemia
American Journal of Hematology·2023· 9 citedOpen Access
Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function
Journal of Translational Medicine·2023· 8 citedOpen Access
P1481: SYSTEMATICALLY REDUCED RED CELL PHOSPHATIDYLSERINE FLIPPASE ACTIVITY IS SUFFICIENT TO INDUCE HEREDITARY HEMOLYTIC ANEMIA
HemaSphere·2023Open Access
Retinal-phospholipid Schiff-base conjugates and their interaction with ABCA4, the ABC transporter associated with Stargardt disease
Journal of Biological Chemistry·2023· 15 citedOpen Access
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Frequent Co-authors

Laurie L. Molday(18), Bernhard H. F. Weber(4), Michelle Illing(4), Faraz Quazi(4), Jonathan A. Coleman(4), Donald J. MacKenzie(3), S. P. S. Yen(3), A. Rembaum(3), U. Benjamin Kaupp(3), H. Gobind Khorana(2), R.A. Bascom(2), Roderick R. McInnes(2), L.Vincent Collins(2), King‐Wai Yau(2), Frank Müller(2), Andrea C. Dosé(2), David Hicks(2), Mathias W. Seeliger(2), William J. Dreyer(2), S. W. Englander(1)