All papers authored by Susanne Roosing
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2024
Ji Hoon Han 
,
Kim Rodenburg ,
Tamar Hayman ,
Giacomo Calzetti ,
Karolina Kaminska ,
Mathieu Quinodoz ,
Molly Marra ,
Sandrine Wallerich,
Gilad Allon,
Zoltán Z. Nagy,
Krisztina Knézy,
Yumei Li ,
Rui Chen ,
Mirella Telles Salgueiro Barboni ,
Paul Yang
and 10 other authors
,
Kim Rodenburg ,
Tamar Hayman ,
Giacomo Calzetti ,
Karolina Kaminska ,
Mathieu Quinodoz ,
Molly Marra ,
Sandrine Wallerich,
Gilad Allon,
Zoltán Z. Nagy,
Krisztina Knézy,
Yumei Li ,
Rui Chen ,
Mirella Telles Salgueiro Barboni ,
Paul Yang
and 10 other authors
Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration
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2022
Irene Vázquez-Domínguez ,
Lonneke Duijkers,
Zeinab Fadaie,
Eef C. W. Alaerds,
Merel A. Post,
Edwin M. van Oosten,
Luke O’Gorman,
Michael Kwint,
Louet Koolen ,
Anita D. M. Hoogendoorn,
Hester Y. Kroes,
Christian Gilissen ,
Frans P. M. Cremers,
Rob W. J. Collin ,
Susanne Roosing
and 1 other authors
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,
Lonneke Duijkers,
Zeinab Fadaie,
Eef C. W. Alaerds,
Merel A. Post,
Edwin M. van Oosten,
Luke O’Gorman,
Michael Kwint,
Louet Koolen ,
Anita D. M. Hoogendoorn,
Hester Y. Kroes,
Christian Gilissen ,
Frans P. M. Cremers,
Rob W. J. Collin ,
Susanne Roosing
and 1 other authors
Download from doi.org
2021
Zeinab Fadaie,
Kornelia Neveling,
Tuomo Mantere,
Ronny Derks,
Lonneke Haer-Wigman,
Amber den Ouden,
Michael Kwint,
Luke O’Gorman,
Dyon Valkenburg,
Carel B. Hoyng,
Christian Gilissen,
Lisenka E. L. M. Vissers,
Marcel Nelen,
Frans P. M. Cremers,
Alexander Hoischen
and 1 other authors
and 1 other authors
Long-read technologies identify a hidden inverted duplication in a family with choroideremia
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Tabea V. Riepe ,
Mubeen Khan ,
Susanne Roosing ,
Frans P. M. Cremers ,
Peter A. C. 't Hoen
,
Mubeen Khan ,
Susanne Roosing ,
Frans P. M. Cremers ,
Peter A. C. 't Hoen
Benchmarking deep learning splice prediction tools using functional splice assays
Download from onlinelibrary.wiley.com
2019
Zeinab Fadaie ,
Mubeen Khan ,
Marta Del Pozo‐Valero ,
Stéphanie S. Cornelis ,
Carmen Ayuso ,
Frans P. M. Cremers ,
Susanne Roosing ,
The Abca4 study group
,
Mubeen Khan ,
Marta Del Pozo‐Valero ,
Stéphanie S. Cornelis ,
Carmen Ayuso ,
Frans P. M. Cremers ,
Susanne Roosing ,
The Abca4 study group
Identification of splice defects due to noncanonical splice site or deep‐intronic variants in ABCA4
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2016
Susanne Roosing ,
Marta Romani,
Mala Isrie,
Rasim Ozgur Rosti,
Alessia Micalizzi,
Damir Musaev,
Tommaso Mazza,
Lihadh Al-Gazali,
Umut Altunoglu,
Eugen Boltshauser,
Stefano D'Arrigo,
Bart De Keersmaecker,
Hülya Kayserili,
Sarah Brandenberger,
Ichraf Kraoua
and 9 other authors
,
Marta Romani,
Mala Isrie,
Rasim Ozgur Rosti,
Alessia Micalizzi,
Damir Musaev,
Tommaso Mazza,
Lihadh Al-Gazali,
Umut Altunoglu,
Eugen Boltshauser,
Stefano D'Arrigo,
Bart De Keersmaecker,
Hülya Kayserili,
Sarah Brandenberger,
Ichraf Kraoua
and 9 other authors
Mutations inCEP120cause Joubert syndrome as well as complex ciliopathy phenotypes
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2014
Susanne Roosing ,
L. Ingeborgh van den Born,
L. Ingeborgh van den Born,
Riccardo Sangermano,
Sandro Banfi ,
Robert K. Koenekoop,
Marijke N. Zonneveld Vrieling,
Caroline C. W. Klaver,
Janneke J. C. van Lith Verhoeven,
Frans P. M. Cremers,
Anneke I. den Hollander,
Carel B. Hoyng
Download from doi.org
,
L. Ingeborgh van den Born,
L. Ingeborgh van den Born,
Riccardo Sangermano,
Sandro Banfi ,
Robert K. Koenekoop,
Marijke N. Zonneveld Vrieling,
Caroline C. W. Klaver,
Janneke J. C. van Lith Verhoeven,
Frans P. M. Cremers,
Anneke I. den Hollander,
Carel B. Hoyng
Download from doi.org
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