Profile photo Mies van Genderen

Mies van Genderen

Full Professor

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Recent publications

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
Clinical and mutational characteristics of oculocutaneous albinism type 7 C. C. Kruijt, G. C. de Wit, H. M. van Minderhout, N. E. Schalij-Delfos, M. M. van Genderen
Scientific Reports, 2024, vol. 14
Reply to Lonneke Haer-Wigman, Amber den Ouden, Ronny Derks, Maria M. van Genderen, Dorien Lugtenberg, Joke Verheij, Raymon Vijzelaar, Helger G. Yntema, Lisenka E.L.M. Vissers, Kornelia Neveling
npj Genomic Medicine, 2024, vol. 9

Fellowships & Awards

2022: For Wishdom 2022: Oog voor de toekomst