Efficient Generation of Knock-In Zebrafish Models for Inherited Disorders Using CRISPR-Cas9 Ribonucleoprotein Complexes
de Vrieze, Erik, de Bruijn, Suzanne E, Reurink, Janine, Broekman, Sanne, van de Riet, Vince, Aben, Marco, Kremer, Hannie, van Wijk, Erwin
Published in International journal of molecular sciences (30.08.2021)
Published in International journal of molecular sciences (30.08.2021)
Get full text
Journal Article
Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in USH2A
Reurink, Janine, Oostrik, Jaap, Aben, Marco, Ramos, Mariana Guimarães, van Berkel, Emma, Ołdak, Monika, van Wijk, Erwin, Kremer, Hannie, Roosing, Susanne, Cremers, Frans P. M.
Published in International journal of molecular sciences (01.11.2022)
Published in International journal of molecular sciences (01.11.2022)
Get full text
Journal Article
Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases
Reurink, Janine, Dockery, Adrian, Oziębło, Dominika, Farrar, G. Jane, Ołdak, Monika, ten Brink, Jacoline B., Bergen, Arthur A., Rinne, Tuula, Yntema, Helger G., Pennings, Ronald J. E., van den Born, L. Ingeborgh, Aben, Marco, Oostrik, Jaap, Venselaar, Hanka, Plomp, Astrid S., Khan, M. Imran, van Wijk, Erwin, Cremers, Frans P. M., Roosing, Susanne, Kremer, Hannie
Published in International journal of molecular sciences (15.06.2021)
Published in International journal of molecular sciences (15.06.2021)
Get full text
Journal Article
Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant
Reurink, Janine, de Vrieze, Erik, Li, Catherina H Z, van Berkel, Emma, Broekman, Sanne, Aben, Marco, Peters, Theo, Oostrik, Jaap, Neveling, Kornelia, Venselaar, Hanka, Ramos, Mariana Guimarães, Gilissen, Christian, Astuti, Galuh D N, Galbany, Jordi Corominas, van Lith-Verhoeven, Janneke J C, Ockeloen, Charlotte W, Haer-Wigman, Lonneke, Hoyng, Carel B, Cremers, Frans P M, Kremer, Hannie, Roosing, Susanne, van Wijk, Erwin
Published in Npj genomic medicine (07.06.2022)
Published in Npj genomic medicine (07.06.2022)
Get full text
Journal Article
Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants
Velde, Hedwig M., Reurink, Janine, Held, Sebastian, Li, Catherina H. Z., Yzer, Suzanne, Oostrik, Jaap, Weeda, Jack, Haer-Wigman, Lonneke, Yntema, Helger G., Roosing, Susanne, Pauleikhoff, Laurenz, Lange, Clemens, Whelan, Laura, Dockery, Adrian, Zhu, Julia, Keegan, David J., Farrar, G. Jane, Kremer, Hannie, Lanting, Cornelis P., Damme, Markus, Pennings, Ronald J. E.
Published in Human genetics (01.11.2022)
Published in Human genetics (01.11.2022)
Get full text
Journal Article
Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease−associated genes
de Bruijn, Suzanne E., Rodenburg, Kim, Corominas, Jordi, Ben-Yosef, Tamar, Reurink, Janine, Kremer, Hannie, Whelan, Laura, Plomp, Astrid S., Berger, Wolfgang, Farrar, G. Jane, Ferenc Kovács, Árpád, Fajardy, Isabelle, Hitti-Malin, Rebekkah J., Weisschuh, Nicole, Weener, Marianna E., Sharon, Dror, Pennings, Ronald J.E., Haer-Wigman, Lonneke, Hoyng, Carel B., Nelen, Marcel R., Vissers, Lisenka E.L.M., van den Born, L. Ingeborgh, Gilissen, Christian, Cremers, Frans P.M., Hoischen, Alexander, Neveling, Kornelia, Roosing, Susanne
Published in Genetics in medicine (01.03.2023)
Published in Genetics in medicine (01.03.2023)
Get full text
Journal Article
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction
Reurink, Janine, Weisschuh, Nicole, Garanto, Alejandro, Dockery, Adrian, van den Born, L. Ingeborgh, Fajardy, Isabelle, Haer-Wigman, Lonneke, Kohl, Susanne, Wissinger, Bernd, Farrar, G. Jane, Ben-Yosef, Tamar, Pfiffner, Fatma Kivrak, Berger, Wolfgang, Weener, Marianna E., Dudakova, Lubica, Liskova, Petra, Sharon, Dror, Salameh, Manar, Offenheim, Ashley, Heon, Elise, Girotto, Giorgia, Gasparini, Paolo, Morgan, Anna, Bergen, Arthur A., ten Brink, Jacoline B., Klaver, Caroline C.W., Tranebjærg, Lisbeth, Rendtorff, Nanna D., Vermeer, Sascha, Smits, Jeroen J., Pennings, Ronald J.E., Aben, Marco, Oostrik, Jaap, Astuti, Galuh D.N., Corominas Galbany, Jordi, Kroes, Hester Y., Phan, Milan, van Zelst-Stams, Wendy A.G., Thiadens, Alberta A.H.J., Verheij, Joke B.G.M., van Schooneveld, Mary J., de Bruijn, Suzanne E., Li, Catherina H.Z., Hoyng, Carel B., Gilissen, Christian, Vissers, Lisenka E.L.M., Cremers, Frans P.M., Kremer, Hannie, van Wijk, Erwin, Roosing, Susanne
Published in HGG advances (13.04.2023)
Published in HGG advances (13.04.2023)
Get full text
Journal Article
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis
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
Published in Frontiers in cell and developmental biology (03.02.2023)
Published in Frontiers in cell and developmental biology (03.02.2023)
Get full text
Journal Article
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype
Jurkute, Neringa, Cancellieri, Francesca, Pohl, Lisa, Li, Catherina H. Z., Heaton, Robert A., Reurink, Janine, Bellingham, James, Quinodoz, Mathieu, Yioti, Georgia, Stefaniotou, Maria, Weener, Marianna, Zuleger, Theresia, Haack, Tobias B., Stingl, Katarina, Ambrose, J. C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C. R., Brittain, H., Brown, M. A., Caulfield, M. J., Chan, G. C., Giess, A., Griffin, J. N., Hamblin, A., Henderson, S., Hubbard, T. J. P., Jackson, R., Jones, L. J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Lakey, A., Leigh, S. E. A., Leong, I. U. S., Lopez, F. J., Maleady-Crowe, F., McEntagart, M., Minneci, F., Mitchell, J., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A. C., O‘Donovan, P., Odhams, C. A., Patch, C., Perez-Gil, D., Pereira, M. B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R. H., Siddiq, A., Sieghart, A., Smith, S. C., Sosinsky, A., Stuckey, A., Tanguy, M., Taylor Tavares, A. L., Thomas, E. R. A., Thompson, S. R., Tucci, A., Welland, M. J., Williams, E., Witkowska, K., Wood, S. M., Zarowiecki, M., Hoyng, Carel B., Mahroo, Omar A., Hargreaves, Iain, Raymond, F. Lucy, Michaelides, Michel, Rivolta, Carlo, Kohl, Susanne, Roosing, Susanne, Webster, Andrew R., Arno, Gavin
Published in Npj genomic medicine (20.10.2022)
Published in Npj genomic medicine (20.10.2022)
Get full text
Journal Article