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Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in USH2A.
Published in:
International Journal of Molecular Sciences, 2022, v. 23, n. 21, p. 13343, doi. 10.3390/ijms232113343
By:
- 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.
Publication type:
Article
Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases.
Published in:
International Journal of Molecular Sciences, 2021, v. 22, n. 12, p. 6419, doi. 10.3390/ijms22126419
By:
- 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
Publication type:
Article
Clinical Characteristics of POC1B -Associated Retinopathy and Assignment of Pathogenicity to Novel Deep Intronic and Non-Canonical Splice Site Variants.
Published in:
International Journal of Molecular Sciences, 2021, v. 22, n. 10, p. 5396, doi. 10.3390/ijms22105396
By:
- Weisschuh, Nicole;
- Mazzola, Pascale;
- Bertrand, Miriam;
- Haack, Tobias B.;
- Wissinger, Bernd;
- Kohl, Susanne;
- Stingl, Katarina;
- Ben-Yosef, Tamar;
- Roosing, Susanne
Publication type:
Article
The Impact of Modern Technologies on Molecular Diagnostic Success Rates, with a Focus on Inherited Retinal Dystrophy and Hearing Loss.
Published in:
International Journal of Molecular Sciences, 2021, v. 22, n. 6, p. 2943, doi. 10.3390/ijms22062943
By:
- de Bruijn, Suzanne E.;
- Fadaie, Zeinab;
- Cremers, Frans P. M.;
- Kremer, Hannie;
- Roosing, Susanne;
- Agnelli, Luca
Publication type:
Article
Leber Congenital Amaurosis Due to GUCY2D Mutations: Longitudinal Analysis of Retinal Structure and Visual Function.
Published in:
International Journal of Molecular Sciences, 2021, v. 22, n. 4, p. 2031, doi. 10.3390/ijms22042031
By:
- Jacobson, Samuel G.;
- Cideciyan, Artur V.;
- Sumaroka, Alexander;
- Roman, Alejandro J.;
- Wu, Vivian;
- Swider, Malgorzata;
- Sheplock, Rebecca;
- Krishnan, Arun K.;
- Garafalo, Alexandra V.;
- Roosing, Susanne
Publication type:
Article
Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants.
Published in:
Human Genetics, 2022, v. 141, n. 11, p. 1723, doi. 10.1007/s00439-022-02441-0
By:
- 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
Publication type:
Article
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.
Published in:
eLife, 2015, p. 1, doi. 10.7554/eLife.06602
By:
- Roosing, Susanne;
- Hofree, Matan;
- Sehyun Kim;
- Scott, Eric;
- Copeland, Brett;
- Romani, Marta;
- Silhavy, Jennifer L.;
- Rosti, Rasim O.;
- Schroth, Jana;
- Mazza, Tommaso;
- Miccinilli, Elide;
- Zaki, Maha S.;
- Swoboda, Kathryn J.;
- Milisa-Drautz, Joanne;
- Dobyns, William B.;
- Mikati, Mohamed A.;
- İncecik, Faruk;
- Azam, Matloob;
- Borgatti, Renato;
- Romaniello, Romina
Publication type:
Article
Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients.
Published in:
Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-35889-9
By:
- Whelan, Laura;
- Dockery, Adrian;
- Stephenson, Kirk A. J.;
- Zhu, Julia;
- Kopčić, Ella;
- Post, Iris J. M.;
- Khan, Mubeen;
- Corradi, Zelia;
- Wynne, Niamh;
- O' Byrne, James J.;
- Duignan, Emma;
- Silvestri, Giuliana;
- Roosing, Susanne;
- Cremers, Frans P. M.;
- Keegan, David J.;
- Kenna, Paul F.;
- Farrar, G. Jane
Publication type:
Article
IFT88 mutations identified in individuals with non-syndromic recessive retinal degeneration result in abnormal ciliogenesis.
Published in:
Human Genetics, 2018, v. 137, n. 6/7, p. 447, doi. 10.1007/s00439-018-1897-9
By:
- Chekuri, Anil;
- Guru, Aditya A.;
- Biswas, Pooja;
- Branham, Kari;
- Borooah, Shyamanga;
- Soto-Hermida, Angel;
- Hicks, Michael;
- Khan, Naheed W.;
- Matsui, Hiroko;
- Alapati, Akhila;
- Raghavendra, Pongali B.;
- Roosing, Susanne;
- Sarangapani, Sripriya;
- Mathavan, Sinnakaruppan;
- Telenti, Amalio;
- Heckenlively, John R.;
- Riazuddin, S. Amer;
- Frazer, Kelly A.;
- Sieving, Paul A.;
- Ayyagari, Radha
Publication type:
Article
Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome.
Published in:
Human Genetics, 2016, v. 135, n. 8, p. 919, doi. 10.1007/s00439-016-1689-z
By:
- Roosing, Susanne;
- Rosti, Rasim;
- Rosti, Basak;
- Vrieze, Erik;
- Silhavy, Jennifer;
- Wijk, Erwin;
- Wakeling, Emma;
- Gleeson, Joseph
Publication type:
Article
Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00261-1
By:
- Fadaie, Zeinab;
- Whelan, Laura;
- Ben-Yosef, Tamar;
- Dockery, Adrian;
- Corradi, Zelia;
- Gilissen, Christian;
- Haer-Wigman, Lonneke;
- Corominas, Jordi;
- Astuti, Galuh D. N.;
- de Rooij, Laura;
- van den Born, L. Ingeborgh;
- Klaver, Caroline C. W.;
- Hoyng, Carel B.;
- Wynne, Niamh;
- Duignan, Emma S.;
- Kenna, Paul F.;
- Cremers, Frans P. M.;
- Farrar, G. Jane;
- Roosing, Susanne
Publication type:
Article
Clinical Utility Gene Card for: autosomal recessive cone-rod dystrophy.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1, doi. 10.1038/ejhg.2015.67
By:
- Manitto, Maria Pia;
- Roosing, Susanne;
- Boon, Camiel J F;
- Souied, Eric H;
- Bandello, Francesco;
- Querques, Giuseppe
Publication type:
Article
Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy: A Meta-Analysis.
Published in:
JAMA Ophthalmology, 2024, v. 142, n. 5, p. 463, doi. 10.1001/jamaophthalmol.2024.0660
By:
- Cornelis, Stéphanie S.;
- IntHout, Joanna;
- Runhart, Esmee H.;
- Grunewald, Olivier;
- Lin, Siying;
- Corradi, Zelia;
- Khan, Mubeen;
- Hitti-Malin, Rebekkah J.;
- Whelan, Laura;
- Farrar, G. Jane;
- Sharon, Dror;
- van den Born, L. Ingeborgh;
- Arno, Gavin;
- Simcoe, Mark;
- Michaelides, Michel;
- Webster, Andrew R.;
- Roosing, Susanne;
- Mahroo, Omar A.;
- Dhaenens, Claire-Marie;
- Cremers, Frans P. M.
Publication type:
Article
Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease.
Published in:
2020
By:
- Runhart, Esmee H.;
- Khan, Mubeen;
- Cornelis, Stéphanie S.;
- Roosing, Susanne;
- Del Pozo-Valero, Marta;
- Lamey, Tina M.;
- Liskova, Petra;
- Roberts, Lisa;
- Stöhr, Heidi;
- Klaver, Caroline C. W.;
- Hoyng, Carel B.;
- Cremers, Frans P. M.;
- Dhaenens, Claire-Marie;
- ABCA4 Disease Consortium Study Group;
- Disease Consortium Study Group
Publication type:
journal article
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.
Published in:
Nature Cell Biology, 2015, v. 17, n. 8, p. 1074, doi. 10.1038/ncb3201
By:
- Wheway, Gabrielle;
- Schmidts, Miriam;
- Mans, Dorus A.;
- Szymanska, Katarzyna;
- Nguyen, Thanh-Minh T.;
- Racher, Hilary;
- Phelps, Ian G.;
- Toedt, Grischa;
- Kennedy, Julie;
- Wunderlich, Kirsten A.;
- Sorusch, Nasrin;
- Abdelhamed, Zakia A.;
- Natarajan, Subaashini;
- Herridge, Warren;
- van Reeuwijk, Jeroen;
- Horn, Nicola;
- Boldt, Karsten;
- Parry, David A.;
- Letteboer, Stef J. F.;
- Roosing, Susanne
Publication type:
Article
Genetic causes of inherited retinal diseases among Israeli Jews of Ethiopian ancestry.
Published in:
Molecular Vision, 2023, v. 29, p. 1
By:
- Yosef, Tamar Ben;
- 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
Publication type:
Article
The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype.
Published in:
2019
By:
- Nijmeijer, Stephanie C. M.;
- van den Born, L. Ingeborg;
- Kievit, Anneke J. A.;
- Stepien, Karolina M.;
- Langendonk, Janneke;
- Marchal, Jan Pieter;
- Roosing, Susanne;
- Wijburg, Frits A.;
- Wagenmakers, Margreet A. E. M.
Publication type:
journal article
The identification of a RNA splice variant in TULP1 in two siblings with early‐onset photoreceptor dystrophy.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.660
By:
- Verbakel, Sanne K.;
- Fadaie, Zeinab;
- Klevering, B. Jeroen;
- van Genderen, Maria M.;
- Feenstra, Ilse;
- Cremers, Frans P. M.;
- Hoyng, Carel B.;
- Roosing, Susanne
Publication type:
Article
Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT).
Published in:
Human Molecular Genetics, 2015, v. 24, n. 13, p. 3742, doi. 10.1093/hmg/ddv118
By:
- Haer-Wigman, Lonneke;
- Newman, Hadas;
- Leibu, Rina;
- Bax, Nathalie M.;
- Baris, Hagit N.;
- Rizel, Leah;
- Banin, Eyal;
- Massarweh, Amir;
- Roosing, Susanne;
- Lefeber, Dirk J.;
- Zonneveld-Vrieling, Marijke N.;
- Isakov, Ofer;
- Shomron, Noam;
- Sharon, Dror;
- Den Hollander, Anneke I.;
- Hoyng, Carel B.;
- Cremers, Frans P. M.;
- Ben-Yosef, Tamar
Publication type:
Article
The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase.
Published in:
Human Molecular Genetics, 2011, v. 20, n. 18, p. 3592, doi. 10.1093/hmg/ddr280
By:
- Coene, Karlien L.M.;
- Mans, Dorus A.;
- Boldt, Karsten;
- Gloeckner, C. Johannes;
- van Reeuwijk, Jeroen;
- Bolat, Emine;
- Roosing, Susanne;
- Letteboer, Stef J.F.;
- Peters, Theo A.;
- Cremers, Frans P.M.;
- Ueffing, Marius;
- Roepman, Ronald
Publication type:
Article
Cost‐effective smMIPs‐based sequencing to provide a genetic diagnosis for patients with retinitis pigmentosa, Leber congenital amaurosis and macular diseases.
Published in:
Acta Ophthalmologica (1755375X), 2024, v. 102, p. N.PAG, doi. 10.1111/aos.16316
By:
- Panneman, Daan M.;
- Hitti‐Malin, Rebekkah J.;
- Roosing, Susanne;
- Cremers, Frans P. M.
Publication type:
Article
The Predicted Splicing Variant c.11+5G>A in RPE65 Leads to a Reduction in mRNA Expression in a Cell-Specific Manner.
Published in:
Cells (2073-4409), 2022, v. 11, n. 22, p. 3640, doi. 10.3390/cells11223640
By:
- Vázquez-Domínguez, Irene;
- Duijkers, Lonneke;
- Fadaie, Zeinab;
- Alaerds, Eef C. W.;
- Post, Merel A.;
- van Oosten, Edwin M.;
- O'Gorman, Luke;
- Kwint, Michael;
- Koolen, Louet;
- Hoogendoorn, Anita D. M.;
- Kroes, Hester Y.;
- Gilissen, Christian;
- Cremers, Frans P. M.;
- Collin, Rob W. J.;
- Roosing, Susanne;
- Garanto, Alejandro
Publication type:
Article
Using single molecule Molecular Inversion Probes as a cost‐effective, high‐throughput sequencing approach to target all genes and loci associated with macular diseases.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. 2234, doi. 10.1002/humu.24489
By:
- Hitti‐Malin, Rebekkah J.;
- Dhaenens, Claire‐Marie;
- Panneman, Daan M.;
- Corradi, Zelia;
- Khan, Mubeen;
- den Hollander, Anneke I.;
- Farrar, G. Jane;
- Gilissen, Christian;
- Hoischen, Alexander;
- van de Vorst, Maartje;
- Bults, Femke;
- Boonen, Erica G. M.;
- Saunders, Patrick;
- Roosing, Susanne;
- Cremers, Frans P. M.
Publication type:
Article
Benchmarking deep learning splice prediction tools using functional splice assays.
Published in:
Human Mutation, 2021, v. 42, n. 7, p. 799, doi. 10.1002/humu.24212
By:
- Riepe, Tabea V.;
- Khan, Mubeen;
- Roosing, Susanne;
- Cremers, Frans P. M.;
- 't Hoen, Peter A. C.
Publication type:
Article
Identification of splice defects due to noncanonical splice site or deep‐intronic variants in ABCA4.
Published in:
Human Mutation, 2019, v. 40, n. 12, p. 2365, doi. 10.1002/humu.23890
By:
- Fadaie, Zeinab;
- Khan, Mubeen;
- Del Pozo‐Valero, Marta;
- Cornelis, Stéphanie S.;
- Ayuso, Carmen;
- Cremers, Frans P. M.;
- Roosing, Susanne;
- The ABCA4 study group
Publication type:
Article
Heterozygous Deep-Intronic Variants and Deletions in ABCA4 in Persons with Retinal Dystrophies and One Exonic ABCA4 Variant.
Published in:
Human Mutation, 2015, v. 36, n. 1, p. 43, doi. 10.1002/humu.22717
By:
- Bax, Nathalie M.;
- Sangermano, Riccardo;
- Roosing, Susanne;
- Thiadens, Alberta A.H.J.;
- Hoefsloot, Lies H.;
- den Born, L. Ingeborgh;
- Phan, Milan;
- Klevering, B. Jeroen;
- Westeneng‐van Haaften, Carla;
- Braun, Terry A.;
- Zonneveld‐Vrieling, Marijke N.;
- Wijs, Ilse;
- Mutlu, Merve;
- Stone, Edwin M.;
- den Hollander, Anneke I.;
- Klaver, Caroline C.W.;
- Hoyng, Carel B.;
- Cremers, Frans P.M.
Publication type:
Article
Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome.
Published in:
Human Mutation, 2008, v. 29, n. 1, p. 45, doi. 10.1002/humu.20614
By:
- Frank, Valeska;
- den Hollander, Anneke I.;
- Brüchle, Nadina Ortiz;
- Zonneveld, Marijke N.;
- Nürnberg, Gudrun;
- Becker, Christian;
- Du Bois, Gabriele;
- Kendziorra, Heide;
- Roosing, Susanne;
- Senderek, Jan;
- Nürnberg, Peter;
- Cremers, Frans P.M.;
- Zerres, Klaus;
- Bergmann, Carsten
Publication type:
Article
ABCA4 c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease.
Published in:
Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1234032
By:
- Rodríguez-Hidalgo, María;
- de Bruijn, Suzanne E.;
- Corradi, Zelia;
- Rodenburg, Kim;
- Lara-López, Araceli;
- Valverde-Megías, Alicia;
- Ávila-Fernández, Almudena;
- Fernandez-Caballero, Lidia;
- Del Pozo-Valero, Marta;
- Corominas, Jordi;
- Gilissen, Christian;
- Irigoyen, Cristina;
- Cremers, Frans P. M.;
- Ayuso, Carmen;
- Ruiz-Ederra, Javier;
- Roosing, Susanne
Publication type:
Article
Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK.
Published in:
Genes, 2023, v. 14, n. 1, p. 191, doi. 10.3390/genes14010191
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
Publication type:
Article
Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes.
Published in:
Genes, 2018, v. 9, n. 1, p. 21, doi. 10.3390/genes9010021
By:
- Astuti, Galuh D. N.;
- van den Born, L. Ingeborgh;
- Khan, M. Imran;
- Hamel, Christian P.;
- Bocquet, Béatrice;
- Manes, Gaël;
- Quinodoz, Mathieu;
- Ali, Manir;
- Toomes, Carmel;
- McKibbin, Martin;
- El-Asrag, Mohammed E.;
- Haer-Wigman, Lonneke;
- Inglehearn, Chris F.;
- Black, Graeme C. M.;
- Hoyng, Carel B.;
- Cremers, Frans P. M.;
- Roosing, Susanne
Publication type:
Article
A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290.
Published in:
Genes, 2017, v. 8, n. 8, p. 208, doi. 10.3390/genes8080208
By:
- Roosing, Susanne;
- Cremers, Frans P. M.;
- Riemslag, Frans C. C.;
- Zonneveld-Vrieling, Marijke N.;
- Talsma, Herman E.;
- Klessens-Godfroy, Francoise J. M.;
- den Hollander, Anneke I.;
- van den Born, L. Ingeborgh
Publication type:
Article
A proteogenomic atlas of the human neural retina.
Published in:
Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1451024
By:
- Riepe, Tabea V.;
- Stemerdink, Merel;
- Salz, Renee;
- Dueñas Rey, Alfredo;
- de Bruijn, Suzanne E.;
- Boonen, Erica;
- Tomkiewicz, Tomasz Z.;
- Kwint, Michael;
- Gloerich, Jolein;
- Wessels, Hans J. C. T.;
- Delanote, Emma;
- De Baere, Elfride;
- van Nieuwerburgh, Filip;
- De Keulenaer, Sarah;
- Ferrari, Barbara;
- Ferrari, Stefano;
- Coppieters, Frauke;
- Cremers, Frans P. M.;
- van Wyk, Erwin;
- Roosing, Susanne
Publication type:
Article

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