PD Dr. Francesca Pasutto

Medizinische Fakultät

MYH9 Variant p.(Arg424Gly) Alters Nonmuscle Myosin IIA Contraction, Causing Atypical MYH9-related Disease (2026) Pollinger L, Greve JN, Grosch M, Kaliman S, Abuhattum S, Kräter M, Brauer I, et al. Journal article ACTN4 p.Ile150Met Causes FSGS With Validation in Primary Fibroblasts and Immortalized Podocytes (2026) Grosch M, Haak J, Kolb C, Plogmann I, Guaragna MS, Wiesener A, Pasutto F, et al. Journal article Alport Syndrome is a Partial Tubulointerstitial Disease of the Kidney (2026) Loderbauer L, Knaup K, Reisenbüchler D, Kaiser N, Naas S, Schneider K, Wopperer FJ, et al. Journal article Functionally deficient UBOX5 variants and primary angle-closure glaucoma (2025) Li Z, Chng WL, Liu Z, Do T, Nakano M, Chen LJ, Loo Y, et al. Journal article Establishment of an Advanced In Vitro Model for Pseudoexfoliation Syndrome and Glaucoma (2025) Pulasani SKR, Zenkel M, Lämmer R, Jünemann A, Gießl A, Korn K, Kruse F, et al. Journal article Integrating genetic regulation and single-cell expression with GWAS prioritizes causal genes and cell types for glaucoma (2024) Hamel AR, Yan W, Rouhana JM, Monovarfeshani A, Jiang X, Mehta PA, Advani J, et al. Journal article Progressive Kidney Failure by Angiotensinogen Inactivation in the Germline (2024) Wopperer F, Olinger E, Wiesener A, Broeker KA, Knaup K, Schaefer JT, Galiano M, et al. Journal article Analysis of genetically determined gene expression suggests role of inflammatory processes in exfoliation syndrome (2023) Hirbo JB, Pasutto F, Gamazon ER, Evans P, Pawar P, Berner D, Sealock J, et al. Journal article Large-scale multitrait genome-wide association analyses identify hundreds of glaucoma risk loci (2023) Han X, Gharahkhani P, Hamel AR, Ong JS, Rentería ME, Mehta P, Dong X, et al. Journal article Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel (2022) Burdon KP, Graham P, Hadler J, Hulleman JD, Pasutto F, Boese EA, Craig JE, et al. Journal article