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ERCC1mutations impede DNA damage repair and cause liver and kidney dysfunction in patients2020 The Journal of Experimental Medicine article Biochemistry, Genetics and Molecular Biology DNA Repair Mechanisms Open access
Katja Apelt, Susan M. White, Hyun Suk Kim, Jung-Eun Yeo, Annelotte P. Wondergem, Martin A. Rooimans, +13 more
36citations -
A new multisystem ERCC1-hepatorenal syndrome: insights from a clinical cohort, molecular pathogenesis, and management guidelines2025 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology DNA Repair Mechanisms Open access
Susan M. White, Annelotte P. Wondergem, Isa Breet, Maren Dittmaier, Katrina M. Bell, Christopher M. Richmond, +19 more
1citations -
Human brain organoids assemble functionally integrated bilateral optic vesicles2021 Cell stem cell article Biochemistry, Genetics and Molecular Biology Pluripotent Stem Cells Research Open access cited by 2 patents
Elke Gabriel, Walid Albanna, Giovanni Pasquini, Anand Ramani, Nataša Josipović, Aruljothi Mariappan, +17 more
182citations -
Restoration of Cone Sensitivity to Individuals with Congenital Photoreceptor Blindness within the Phase 1/2 Sepofarsen Trial2022 Ophthalmology Science article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Artur V. Cideciyan, Samuel G. Jacobson, Allen C. Ho, Arun K. Krishnan, Alejandro J. Román, Alexandra V. Garafalo, +8 more
18citations -
Human brain organoids assemble functionally integrated bilateral optic vesicles2021 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Elke Gabriel, Walid Albanna, Giovanni Pasquini, Anand Ramani, Natasia Josipovic, Aruljothi Mariappan, +14 more
14citations -
Sex-specific relationship between melanopsin-dependent light sensitivity and chronotype across the lifespan2025 bioRxiv (Cold Spring Harbor Laboratory) preprint Neuroscience Circadian rhythm and melatonin Open access
Gijs van der Zwet, Zoe Bor, Rick van Dorp, Laura M. Pape, Huybert van de Stadt, Elise M. McGlashan, +2 more
0citations -
Photo-Regulation of Enzyme Activity: The Inactivation of a Carboligase with Genetically Encoded Photosensitizer Fusion Tags2022 Frontiers in Catalysis article Biochemistry, Genetics and Molecular Biology Enzyme Catalysis and Immobilization Open access
Tim Gerlach, Jendrik Schain, Simone Söltl, Morten M. C. H. van Schie, Fabienne Hilgers, Nora Lisa Bitzenhofer, +2 more
5citations -
Design and characterization of porphyrin-based photosensitizing metalloproteins integrated with artificial metalloenzymes for photocatalytic hydrogen production2025 Journal of Inorganic Biochemistry article Materials Science Porphyrin and Phthalocyanine Chemistry Open access
Laura V. Opdam, Sina Katharina Goetzfried, E. Polanco, Sylvestre A. Bonnet, Anjali Pandit
3citations