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Functional Validation of an Alpha-Actinin-4 Mutation as a Potential Cause of an Aggressive Presentation of Adolescent Focal Segmental Glomerulosclerosis: Implications for Genetic Testing.

Feng, Di, Julia M Steinke, Ramaswamy Krishnan, Gabriel Birrane, and Martin R Pollak. 2016. “Functional Validation of an Alpha-Actinin-4 Mutation As a Potential Cause of an Aggressive Presentation of Adolescent Focal Segmental Glomerulosclerosis: Implications for Genetic Testing.”. PloS One 11 (12): e0167467.

Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach.

Tischkowitz, Marc, Nancy Hamel, Marcelo A Carvalho, Gabriel Birrane, Aditi Soni, Erik H van Beers, Simon A Joosse, et al. 2008. “Pathogenicity of the BRCA1 Missense Variant M1775K Is Determined by the Disruption of the BRCT Phosphopeptide-Binding Pocket: A Multi-Modal Approach.”. European Journal of Human Genetics : EJHG 16 (7): 820-32.

Unfolding of monomeric lipoprotein lipase by ANGPTL4: Insight into the regulation of plasma triglyceride metabolism.

Kristensen, Kristian K, Katrine Zinck Leth-Espensen, Haydyn D T Mertens, Gabriel Birrane, Muthuraman Meiyappan, Gunilla Olivecrona, Thomas J D Jørgensen, Stephen G Young, and Michael Ploug. 2020. “Unfolding of Monomeric Lipoprotein Lipase by ANGPTL4: Insight into the Regulation of Plasma Triglyceride Metabolism.”. Proceedings of the National Academy of Sciences of the United States of America 117 (8): 4337-46.