Identification of novel 3D-genome altering and complex structural variants underlying retinitis pigmentosa type 17 through a multistep and high-throughput approach by Suzanne E. de Bruijn, Daan M. Panneman, Nicole Weisschuh, Elizabeth L. Cadena, Erica G. M. Boonen, Lara K. Holtes, Galuh D. N. Astuti, Frans P. M. Cremers, Nico Leijsten, Jordi Corominas, Christian Gilissen, Anna Skowronska, Jessica Woodley, Andrew D. Beggs, Vasileios Toulis, Di Chen, Michael E. Cheetham, Alison J. Hardcastle, Terri L. McLaren, Terri L. McLaren, Tina M. Lamey, Jennifer A. Thompson, Fred K. Chen, Fred K. Chen, Fred K. Chen, John N. de Roach, John N. de Roach, Isabella R. Urwin, Lori S. Sullivan, Susanne Roosing

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Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis by Daan M. Panneman, Daan M. Panneman, Rebekkah J. Hitti-Malin, Rebekkah J. Hitti-Malin, Lara K. Holtes, Suzanne E. de Bruijn, Suzanne E. de Bruijn, Janine Reurink, Janine Reurink, Erica G. M. Boonen, Muhammad Imran Khan, Manir Ali, Sten Andréasson, Elfride De Baere, Elfride De Baere, Sandro Banfi, Sandro Banfi, Miriam Bauwens, Miriam Bauwens, Tamar Ben-Yosef, Béatrice Bocquet, Béatrice Bocquet, Marieke De Bruyne, Marieke De Bruyne, Berta de la Cerda, Frauke Coppieters, Frauke Coppieters, Frauke Coppieters, Pietro Farinelli, Thomas Guignard, Chris F. Inglehearn, Marianthi Karali, Marianthi Karali, Ulrika Kjellström, Robert Koenekoop, Robert Koenekoop, Bart de Koning, Bart P. Leroy, Bart P. Leroy, Bart P. Leroy, Bart P. Leroy, Martin McKibbin, Martin McKibbin, Isabelle Meunier, Isabelle Meunier, Konstantinos Nikopoulos, Koji M. Nishiguchi, James A. Poulter, Carlo Rivolta, Carlo Rivolta, Carlo Rivolta, Enrique Rodríguez de la Rúa, Patrick Saunders, Francesca Simonelli, Yasmin Tatour, Francesco Testa, Alberta A. H. J. Thiadens, Carmel Toomes, Anna M. Tracewska, Hoai Viet Tran, Hiroaki Ushida, Veronika Vaclavik, Virginie J. M. Verhoeven, Virginie J. M. Verhoeven, Maartje van de Vorst, Christian Gilissen, Christian Gilissen, Alexander Hoischen, Alexander Hoischen, Alexander Hoischen, Frans P. M. Cremers, Frans P. M. Cremers, Susanne Roosing, Susanne Roosing

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Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes by Rebekkah J. Hitti-Malin, Daan M. Panneman, Zelia Corradi, Erica G. M. Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard H. F. Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Sandro Banfi, Tamar Ben-Yosef, Damjan Glavač, G. Jane Farrar, Carmen Ayuso, Petra Liskova, Lubica Dudakova, Marie Vajter, Monika Ołdak, Jacek P. Szaflik, Anna Matynia, Michael B. Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfride De Baere, Carel B. Hoyng, Catherina H. Z. Li, Caroline C. W. Klaver, Chris F. Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L. Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeina, Gita Taurina, Andrea L. Vincent, Lisa Roberts, Raj Ramesar, Giovanna Sartor, Elena Luppi, Susan M. Downes, L. Ingeborgh van den Born, Terri L. McLaren, John N. De Roach, Tina M. Lamey, Jennifer A. Thompson, Fred K. Chen, Anna M. Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J. Bolz, Hülya Kayserili, Susanne Roosing, Frans P. M. Cremers

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