Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Suzanne E, de Bruijn"'
Autor:
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, Tina M. Lamey, Jennifer A. Thompson, Fred K. Chen, John N. de Roach, Isabella R. Urwin, Lori S. Sullivan, Susanne Roosing
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
IntroductionAutosomal dominant retinitis pigmentosa type 17 (adRP, type RP17) is caused by complex structural variants (SVs) affecting a locus on chromosome 17 (chr17q22). The SVs disrupt the 3D regulatory landscape by altering the topologically asso
Externí odkaz:
https://doaj.org/article/4befa15848f34806ac97263fee8b70c9
Autor:
Tabea V. Riepe, Merel Stemerdink, Renee Salz, Alfredo Dueñas Rey, Suzanne E. de Bruijn, Erica Boonen, Tomasz Z. Tomkiewicz, Michael Kwint, Jolein Gloerich, Hans J. C. T. Wessels, Emma Delanote, Elfride De Baere, Filip van Nieuwerburgh, Sarah De Keulenaer, Barbara Ferrari, Stefano Ferrari, Frauke Coppieters, Frans P. M. Cremers, Erwin van Wyk, Susanne Roosing, Erik de Vrieze, Peter A. C. ‘t Hoen
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
The human neural retina is a complex tissue with abundant alternative splicing and more than 10% of genetic variants linked to inherited retinal diseases (IRDs) alter splicing. Traditional short-read RNA-sequencing methods have been used for understa
Externí odkaz:
https://doaj.org/article/597f13c9088a47f6afda9d373f062809
Autor:
Roberta Zeuli, Marianthi Karali, Suzanne E. de Bruijn, Kim Rodenburg, Margherita Scarpato, Dalila Capasso, Galuh D.N. Astuti, Christian Gilissen, María Rodríguez-Hidalgo, Javier Ruiz-Ederra, Francesco Testa, Francesca Simonelli, Frans P.M. Cremers, Sandro Banfi, Susanne Roosing
Publikováno v:
HGG Advances, Vol 5, Iss 3, Pp 100314- (2024)
Summary: Inherited retinal diseases (IRDs) are a group of rare monogenic diseases with high genetic heterogeneity (pathogenic variants identified in over 280 causative genes). The genetic diagnostic rate for IRDs is around 60%, mainly thanks to the r
Externí odkaz:
https://doaj.org/article/e17626b213a24c63b6a4df65247a5db9
Autor:
María Rodríguez-Hidalgo, Suzanne E. de Bruijn, Zelia Corradi, Kim Rodenburg, Araceli Lara-López, Alicia Valverde-Megías, Almudena Ávila-Fernández, Lidia Fernandez-Caballero, Marta Del Pozo-Valero, Jordi Corominas, Christian Gilissen, Cristina Irigoyen, Frans P. M. Cremers, Carmen Ayuso, Javier Ruiz-Ederra, Susanne Roosing
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Introduction: Inherited retinal dystrophies (IRDs) can be caused by variants in more than 280 genes. The ATP-binding cassette transporter type A4 (ABCA4) gene is one of these genes and has been linked to Stargardt disease type 1 (STGD1), fundus flavi
Externí odkaz:
https://doaj.org/article/bd91c1c27e364dfc8c96109395d9fdc5
Autor:
Janine Reurink, Nicole Weisschuh, Alejandro Garanto, Adrian Dockery, L. Ingeborgh van den Born, Isabelle Fajardy, Lonneke Haer-Wigman, Susanne Kohl, Bernd Wissinger, G. Jane Farrar, Tamar Ben-Yosef, Fatma Kivrak Pfiffner, Wolfgang Berger, Marianna E. Weener, Lubica Dudakova, Petra Liskova, Dror Sharon, Manar Salameh, Ashley Offenheim, Elise Heon, Giorgia Girotto, Paolo Gasparini, Anna Morgan, Arthur A. Bergen, Jacoline B. ten Brink, Caroline C.W. Klaver, Lisbeth Tranebjærg, Nanna D. Rendtorff, Sascha Vermeer, Jeroen J. Smits, Ronald J.E. Pennings, Marco Aben, Jaap Oostrik, Galuh D.N. Astuti, Jordi Corominas Galbany, Hester Y. Kroes, Milan Phan, Wendy A.G. van Zelst-Stams, Alberta A.H.J. Thiadens, Joke B.G.M. Verheij, Mary J. van Schooneveld, Suzanne E. de Bruijn, Catherina H.Z. Li, Carel B. Hoyng, Christian Gilissen, Lisenka E.L.M. Vissers, Frans P.M. Cremers, Hannie Kremer, Erwin van Wijk, Susanne Roosing
Publikováno v:
HGG Advances, Vol 4, Iss 2, Pp 100181- (2023)
Summary: A significant number of individuals with a rare disorder such as Usher syndrome (USH) and (non-)syndromic autosomal recessive retinitis pigmentosa (arRP) remain genetically unexplained. Therefore, we assessed subjects suspected of USH2A-asso
Externí odkaz:
https://doaj.org/article/3a1d6bbbc0b84a3f9409fc1710e756ce
Autor:
Daan M. Panneman, Rebekkah J. Hitti-Malin, Lara K. Holtes, Suzanne E. de Bruijn, Janine Reurink, Erica G. M. Boonen, Muhammad Imran Khan, Manir Ali, Sten Andréasson, Elfride De Baere, Sandro Banfi, Miriam Bauwens, Tamar Ben-Yosef, Béatrice Bocquet, Marieke De Bruyne, Berta de la Cerda, Frauke Coppieters, Pietro Farinelli, Thomas Guignard, Chris F. Inglehearn, Marianthi Karali, Ulrika Kjellström, Robert Koenekoop, Bart de Koning, Bart P. Leroy, Martin McKibbin, Isabelle Meunier, Konstantinos Nikopoulos, Koji M. Nishiguchi, James A. Poulter, 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, Maartje van de Vorst, Christian Gilissen, Alexander Hoischen, Frans P. M. Cremers, Susanne Roosing
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Introduction: Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are two groups of inherited retinal diseases (IRDs) where the rod photoreceptors degenerate followed by the cone photoreceptors of the retina. A genetic diagnosis for IRDs i
Externí odkaz:
https://doaj.org/article/70773f087bee4d9ea754539e4fee1ac1
Autor:
Michel Michaelides, Michael E. Cheetham, Marco Aben, Alison J. Hardcastle, Hannie Kremer, Daniele Ottaviani, Stefan Mundlos, Graeme C.M. Black, Susan M Downes, Robert K. Koenekoop, Julio C. Corral-Serrano, Jordi Corominas, Gavin Arno, Andrew R. Webster, Claire E. L. Smith, Uirá Souto Melo, Carlo Rivolta, Suzanne E. de Bruijn, Chris F. Inglehearn, Raj Ramesar, L. Ingeborgh van den Born, Susanne Roosing, Christian Gilissen, Nikolas Pontikos, Musa M. Mhlanga, Jacquie Greenberg, F. Lucy Raymond, Frans P.M. Cremers, Alessia Fiorentino, Timo W. F. Mulders, Stephanie Fanucchi, Silvia Albert, Simon Mead, Lisa Roberts, Michalis Georgiou, George Rebello, Carel B. Hoyng
Publikováno v:
American Journal of Human Genetics, 107, 5, pp. 802-814
American Journal of Human Genetics, 107, 802-814
American Journal of Human Genetics
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
American Journal of Human Genetics, 107, 802-814
American Journal of Human Genetics
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
© 2020 The Authors. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/)
The cause of autosomal-dominant retinitis pigmentosa (adRP), which leads to loss of vision and blindness, was investigated
The cause of autosomal-dominant retinitis pigmentosa (adRP), which leads to loss of vision and blindness, was investigated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31c6ad6470966b5d2207a3a4973f86a2
https://hdl.handle.net/2066/227412
https://hdl.handle.net/2066/227412
Autor:
Suzanne E. de Bruijn, Kim Rodenburg, Jordi Corominas, Tamar Ben-Yosef, Janine Reurink, Hannie Kremer, Laura Whelan, Astrid S. Plomp, Wolfgang Berger, G. Jane Farrar, Árpád Ferenc Kovács, Isabelle Fajardy, Rebekkah J. Hitti-Malin, Nicole Weisschuh, Marianna E. Weener, Dror Sharon, Ronald J.E. Pennings, Lonneke Haer-Wigman, Carel B. Hoyng, Marcel R. Nelen, Lisenka E.L.M. Vissers, L. Ingeborgh van den Born, Christian Gilissen, Frans P.M. Cremers, Alexander Hoischen, Kornelia Neveling, Susanne Roosing
Publikováno v:
Genetics in medicine. Lippincott Williams and Wilkins
Genetics in Medicine, 25, 3
Genetics in Medicine. Lippincott Williams and Wilkins
de Bruijn, S E, Rodenburg, K, Corominas, J, Ben-Yosef, T, Reurink, J, Kremer, H, Whelan, L, Plomp, A S, Berger, W, Farrar, G J, Ferenc Kovács, Á, Fajardy, I, Hitti-Malin, R J, Weisschuh, N, Weener, M E, Sharon, D, Pennings, R J E, Haer-Wigman, L, Hoyng, C B, Nelen, M R, Vissers, L E L M, van den Born, L I, Gilissen, C, Cremers, F P M, Hoischen, A, Neveling, K & Roosing, S 2022, ' Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease−associated genes ', Genetics in Medicine . https://doi.org/10.1016/j.gim.2022.11.013
Genetics in Medicine, 25
Genetics in Medicine, 25 (3)
Genetics in Medicine, 25, 3
Genetics in Medicine. Lippincott Williams and Wilkins
de Bruijn, S E, Rodenburg, K, Corominas, J, Ben-Yosef, T, Reurink, J, Kremer, H, Whelan, L, Plomp, A S, Berger, W, Farrar, G J, Ferenc Kovács, Á, Fajardy, I, Hitti-Malin, R J, Weisschuh, N, Weener, M E, Sharon, D, Pennings, R J E, Haer-Wigman, L, Hoyng, C B, Nelen, M R, Vissers, L E L M, van den Born, L I, Gilissen, C, Cremers, F P M, Hoischen, A, Neveling, K & Roosing, S 2022, ' Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease−associated genes ', Genetics in Medicine . https://doi.org/10.1016/j.gim.2022.11.013
Genetics in Medicine, 25
Genetics in Medicine, 25 (3)
Purpose: Structural variants (SVs) play an important role in inherited retinal diseases (IRD). Although the identification of SVs significantly improved upon the availability of genome sequencing, it is expected that involvement of SVs in IRDs is hig
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2799d9614b7c6535f6ff4084263d2eb2
https://pure.amc.nl/en/publications/optical-genome-mapping-and-revisiting-shortread-genome-sequencing-data-reveal-previously-overlooked-structural-variants-disrupting-retinal-diseaseassociated-genes(b2b88fa0-a4a9-41a9-b28f-bcd99c6a5e7e).html
https://pure.amc.nl/en/publications/optical-genome-mapping-and-revisiting-shortread-genome-sequencing-data-reveal-previously-overlooked-structural-variants-disrupting-retinal-diseaseassociated-genes(b2b88fa0-a4a9-41a9-b28f-bcd99c6a5e7e).html
Autor:
Ronald J.E. Pennings, Hannie Kremer, Erik de Vrieze, Sjoert A. H. Pegge, Frans P.M. Cremers, Cornelis P. Lanting, Kornelia Neveling, Helger G. Yntema, Jaap Oostrik, Suzanne E. de Bruijn, Susanne Roosing, Tuomo Mantere, Luke O’Gorman, Jeroen Smits, Alexander Hoischen, Ronny Derks
Publikováno v:
Human genetics. Springer Verlag
Human Genetics, 141, 3-4, pp. 465-484
Human Genetics, 141(3-4), 465-484. SPRINGER
Human Genetics. Springer Verlag
DOOFNL Consortium 2021, ' Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant ', Human Genetics . https://doi.org/10.1007/s00439-021-02336-6
Human Genetics, 141(3-4), 465-484. Springer-Verlag
Human Genetics, 141, 465-484
Human Genetics, 141, 3-4, pp. 465-484
Human Genetics, 141(3-4), 465-484. SPRINGER
Human Genetics. Springer Verlag
DOOFNL Consortium 2021, ' Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant ', Human Genetics . https://doi.org/10.1007/s00439-021-02336-6
Human Genetics, 141(3-4), 465-484. Springer-Verlag
Human Genetics, 141, 465-484
Pathogenic variants in SLC26A4 have been associated with autosomal recessive hearing loss (arHL) and a unilateral or bilateral enlarged vestibular aqueduct (EVA). SLC26A4 is the second most frequently mutated gene in arHL. Despite the strong genotype
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e26abe150352dfdf31cfa303d508308d
https://hdl.handle.net/1887/3593858
https://hdl.handle.net/1887/3593858
Autor:
Jeroen Smits, Suzanne E. de Bruijn, Cornelis P. Lanting, Jaap Oostrik, Luke O’Gorman, Tuomo Mantere, Frans P. M. Cremers, Susanne Roosing, Helger G. Yntema, Erik de Vrieze, Ronny Derks, Alexander Hoischen, Sjoert A.H. Pegge, Kornelia Neveling, Ronald J.E. Pennings, Hannie Kremer
Pathogenic variants in SLC26A4 have been associated with autosomal recessive hearing loss (arHL) and a unilateral or bilateral enlarged vestibular aqueduct (EVA). SLC26A4 is the second most frequently mutated gene in arHL. Despite the strong genotype
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d6d52a57f2905575a0ca5c49ecc59dc6
https://doi.org/10.21203/rs.3.rs-577715/v1
https://doi.org/10.21203/rs.3.rs-577715/v1