Items where Author is "Cremers, Frans P. M."

2020

de Bruijn, Suzanne E. and Fiorentino, Alessia and Ottaviani, Daniele and Fanucchi, Stephanie and Melo, Uirá S. and Corral-Serrano, Julio C. and Mulders, Timo and Georgiou, Michalis and Rivolta, Carlo and Pontikos, Nikolas and Arno, Gavin and Roberts, Lisa and Greenberg, Jacquie and Albert, Silvia and Gilissen, Christian and Aben, Marco and Rebello, George and Mead, Simon and Raymond, F. Lucy and Corominas, Jordi and Smith, Claire E. L. and Kremer, Hannie and Downes, Susan and Black, Graeme C. and Webster, Andrew R. and Inglehearn, Chris F. and van den Born, L. Ingeborgh and Koenekoop, Robert K. and Michaelides, Michel and Ramesar, Raj S. and Hoyng, Carel B. and Mundlos, Stefan and Mhlanga, Musa M. and Cremers, Frans P. M. and Cheetham, Michael E. and Roosing, Susanne and Hardcastle, Alison J.. (2020) Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa. American Journal of Human Genetics, 107 (5). pp. 802-814.

2019

Nikopoulos, Konstantinos and Cisarova, Katarina and Quinodoz, Mathieu and Koskiniemi-Kuendig, Hanna and Miyake, Noriko and Farinelli, Pietro and Rehman, Atta Ur and Khan, Muhammad Imran and Prunotto, Andrea and Akiyama, Masato and Kamatani, Yoichiro and Terao, Chikashi and Miya, Fuyuki and Ikeda, Yasuhiro and Ueno, Shinji and Fuse, Nobuo and Murakami, Akira and Wada, Yuko and Terasaki, Hiroko and Sonoda, Koh-Hei and Ishibashi, Tatsuro and Kubo, Michiaki and Cremers, Frans P. M. and Kutalik, Zoltán and Matsumoto, Naomichi and Nishiguchi, Koji M. and Nakazawa, Toru and Rivolta, Carlo. (2019) A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy. Nature Communications, 10 (1). p. 2884.

2016

Nikopoulos, Konstantinos and Farinelli, Pietro and Giangreco, Basilio and Tsika, Chrysanthi and Royer-Bertrand, Beryl and Mbefo, Martial K. and Bedoni, Nicola and Kjellström, Ulrika and El Zaoui, Ikram and Di Gioia, Silvio Alessandro and Balzano, Sara and Cisarova, Katarina and Messina, Andrea and Decembrini, Sarah and Plainis, Sotiris and Blazaki, Styliani V. and Khan, Muhammad Imran and Micheal, Shazia and Boldt, Karsten and Ueffing, Marius and Moulin, Alexandre P. and Cremers, Frans P. M. and Roepman, Ronald and Arsenijevic, Yvan and Tsilimbaris, Miltiadis K. and Andréasson, Sten and Rivolta, Carlo. (2016) Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects. American Journal of Human Genetics, 99 (3). pp. 770-776.

Bedoni, Nicola and Haer-Wigman, Lonneke and Vaclavik, Veronika and Tran, Viet H. and Farinelli, Pietro and Balzano, Sara and Royer-Bertrand, Beryl and El-Asrag, Mohammed E. and Bonny, Olivier and Ikonomidis, Christos and Litzistorf, Yan and Nikopoulos, Konstantinos and Yioti, Georgia G. and Stefaniotou, Maria I. and McKibbin, Martin and Booth, Adam P. and Ellingford, Jamie M. and Black, Graeme C. and Toomes, Carmel and Inglehearn, Chris F. and Hoyng, Carel B. and Bax, Nathalie and Klaver, Caroline C. W. and Thiadens, Alberta A. and Murisier, Fabien and Schorderet, Daniel F. and Ali, Manir and Cremers, Frans P. M. and Andréasson, Sten and Munier, Francis L. and Rivolta, Carlo. (2016) Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility. Human Molecular Genetics, 25 (20). pp. 4546-4555.

2014

Nishiguchi, Koji M. and Avila-Fernandez, Almudena and van Huet, Ramon A. C. and Corton, Marta and Pérez-Carro, Raquel and Martín-Garrido, Esther and López-Molina, María Isabel and Blanco-Kelly, Fiona and Hoefsloot, Lies H. and van Zelst-Stams, Wendy A. and García-Ruiz, Pedro J. and Del Val, Javier and Di Gioia, Silvio Alessandro and Klevering, B. Jeroen and van de Warrenburg, Bart P. C. and Vazquez, Carlos and Cremers, Frans P. M. and García-Sandoval, Blanca and Hoyng, Carel B. and Collin, Rob W. J. and Rivolta, Carlo and Ayuso, Carmen. (2014) Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration. Ophthalmology, 121 (8). pp. 1620-1627.