Mies van Genderen

Full Professor

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Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy Cansu de Muijnck, Lonneke Haer-Wigman, Judith A.M. van Everdingen, Tanya Lushchyk, Pam A.T. Heutinck, Marieke F. van Dooren, Anneke J.A. Kievit, Virginie J.M. Verhoeven, Marleen E.H. Simon, Rosemarie A. Wasmann, Irene C. Notting, Elfride De Baere, Sophie Walraedt, Julie De Zaeytijd, Filip Van den Broeck, Bart P. Leroy, Camiel J.F. Boon, Maria M. van Genderen
Scientific Reports, 2024, vol. 14

Diagnosis and management in Rubinstein-Taybi syndrome Didier Lacombe, Agnès Bloch-Zupan, Cecilie Bredrup, Edward B. Cooper, Sofia Douzgou Houge, Sixto García-Miñaúr, Hülya Kayserili, Lidia Larizza, Vanesa Lopez Gonzalez, Leonie A. Menke, Donatella Milani, Francesco Saettini, Cathy A. Stevens, Lloyd Tooke, Jill A. Van Der Zee, Maria M. Van Genderen, Julien Van-Gils, Jane Waite, Jean Louis Adrien, Oliver Bartsch, Pierre Bitoun, Antonia H.M. Bouts, Anna M. Cueto-González, Elena Dominguez-Garrido, Floor A. Duijkers, Patricia Fergelot, Elizabeth Halstead, Sylvia A. Huisman, Camilla Meossi, Jo Mullins, Sarah M. Nikkel, Chris Oliver, Elisabetta Prada, Alessandra Rei, Ilka Riddle, Cristina Rodriguez-Fonseca, Rebecca Rodríguez Pena, Janet Russell, Alicia Saba, Fernando Santos-Simarro, Brittany N. Simpson, David F. Smith, Markus F. Stevens, Katalin Szakszon, Emmanuelle Taupiac, Nadia Totaro, Irene Valenzuena Palafoll, Daniëlle C.M. Van Der Kaay, Michiel P. Van Wijk, Klea Vyshka, Susan Wiley, Raoul C. Hennekam
Journal of Medical Genetics, 2024, vol. 61, p.503-519

Leber's hereditary optic neuropathy like disease in MT-ATP6 variant m.8969G>A Cansu de Muijnck, Mary J. van Schooneveld, Astrid S. Plomp, Richard J. Rodenburg, Maria M. van Genderen, Camiel J.F. Boon
American Journal of Ophthalmology Case Reports, 2024, vol. 34

Mutations in NSUN3, a Mitochondrial Methyl Transferase Gene, Cause Inherited Optic Neuropathy Cansu de Muijnck, Jacoline B.ten Brink, Hugoline G. de Haan, Richard J. Rodenburg, Nicole I. Wolf, Arthur A. Bergen, Camiel J.F. Boon, Maria M. van Genderen
Genes, 2024, vol. 15

Efficacy of Carbonic Anhydrase Inhibitors on Cystoid Fluid Collections and Visual Acuity in Patients with X-Linked Retinoschisis Jonathan Hensman, Leo C. Hahn, Mary J. van Schooneveld, Roselie M.H. Diederen, Jacoline B. ten Brink, Ralph J. Florijn, Arthur A. Bergen, Ine Strubbe, Pam Heutinck, Maria M. van Genderen, L. Ingeborgh van den Born, Alberta A. Thiadens, Julie de Zaeytijd, Bart P. Leroy, Carel B. Hoyng, Camiel J.F. Boon
Ophthalmology Retina, 2024, vol. 8, p.600-606

Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort Pam A.T. Heutinck, L. Ingeborgh van den Born, Maikel Vermeer, Adriana I. Iglesias Gonzales, Carel B. Hoyng, Jan Willem R. Pott, Hester Y. Kroes, Mary J. van Schooneveld, Camiel J.F. Boon, Maria M. van Genderen, Astrid S. Plomp, Yvonne de Jong-Hesse, Michelle B. van Egmond-Ebbeling, Lies H. Hoefsloot, Arthur A Bergen, Caroline C.W. Klaver, Magda A. Meester-Smoor, Alberta A.H.J. Thiadens, Virginie J.M. Verhoeven
Investigative ophthalmology & visual science, 2024, vol. 65

Fellowships & Awards

2022: For Wishdom 2022: Oog voor de toekomst