Novel and Recurrent Copy Number Variants in ABCA4 -Associated Retinopathy by Corradi, Zelia, Dhaenens, Claire-Marie, Grunewald, Olivier, Kocabaş, Ipek Selen, Meunier, Isabelle, Banfi, Sandro, Karali, Marianthi, Cremers, Frans P M, Hitti-Malin, Rebekkah J

Get full text

Cost‐effective smMIPs‐based sequencing to provide a genetic diagnosis for patients with retinitis pigmentosa, Leber congenital amaurosis and macular diseases by Panneman, Daan M., Hitti‐Malin, Rebekkah J., Roosing, Susanne, Cremers, Frans P. M.

Get full text

Next-generation sequencing to genetically diagnose a diverse range of inherited eye disorders in 15 consanguineous families from Pakistan by Basharat, Rabia, de Bruijn, Suzanne E., Zahid, Muhammad, Rodenburg, Kim, Hitti-Malin, Rebekkah J., Rodríguez-Hidalgo, María, Boonen, Erica G.M., Jarral, Afeefa, Mahmood, Arif, Corominas, Jordi, Khalil, Sharqa, Zai, Jawaid Ahmed, Ali, Ghazanfar, Ruiz-Ederra, Javier, Gilissen, Christian, Cremers, Frans P.M., Ansar, Muhammad, Panneman, Daan M., Roosing, Susanne

Get full text

ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease by Corradi, Zelia, Salameh, Manar, Khan, Mubeen, Héon, Elise, Mishra, Ketan, Hitti-Malin, Rebekkah J, AlSwaiti, Yahya, Aslanian, Alice, Banin, Eyal, Brooks, Brian P, Zein, Wadih M, Hufnagel, Robert B, Roosing, Susanne, Dhaenens, Claire-Marie, Sharon, Dror, Cremers, Frans P M, AlTalbishi, Alaa

Get full text

Genetic causes of inherited retinal diseases among Israeli Jews of Ethiopian ancestry by Ben Yosef, Tamar, Banin, Eyal, Chervinsky, Elana, Shalev, Stavit A, Leibu, Rina, Mezer, Eedy, Rotenstreich, Ygal, Goldenberg-Cohen, Nitza, Weiss, Shirel, Khan, Muhammad Imran, Panneman, Daan M, Hitti-Malin, Rebekkah J, Weiner, Chen, Roosing, Susanne, Cremers, Frans P M, Pras, Eran, Zur, Dinah, Newman, Hadas, Deitch, Iris, Sharon, Dror, Ehrenberg, Miriam

Get full text

A Missense Variant in the Bardet-Biedl Syndrome 2 Gene ( BBS2 ) Leads to a Novel Syndromic Retinal Degeneration in the Shetland Sheepdog by Hitti-Malin, Rebekkah J, Burmeister, Louise M, Lingaas, Frode, Kaukonen, Maria, Pettinen, Inka, Lohi, Hannes, Sargan, David, Mellersh, Cathryn S

Get full text

Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK by Mc Clinton, Benjamin, Corradi, Zelia, McKibbin, Martin, Panneman, Daan M, Roosing, Susanne, Boonen, Erica G M, Ali, Manir, Watson, Christopher M, Steel, David H, Cremers, Frans P M, Inglehearn, Chris F, Hitti-Malin, Rebekkah J, Toomes, Carmel

Get full text

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

Get full text

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

Get full text

A LINE-1 insertion situated in the promoter of IMPG2 is associated with autosomal recessive progressive retinal atrophy in Lhasa Apso dogs by Hitti-Malin, Rebekkah J, Burmeister, Louise M, Ricketts, Sally L, Lewis, Thomas W, Pettitt, Louise, Boursnell, Mike, Schofield, Ellen C, Sargan, David, Mellersh, Cathryn S

Get full text

Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability by Corradi, Zelia, Khan, Mubeen, Hitti-Malin, Rebekkah, Mishra, Ketan, Whelan, Laura, Cornelis, Stéphanie S., Hoyng, Carel B., Kämpjärvi, Kati, Klaver, Caroline C.W., Liskova, Petra, Stöhr, Heidi, Weber, Bernhard H.F., Banfi, Sandro, Farrar, G. Jane, Sharon, Dror, Zernant, Jana, Allikmets, Rando, Dhaenens, Claire-Marie, Cremers, Frans P.M.

Get full text