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,
L. Ingeborgh van den Born ,
Zoltán Z. Nagy,
Krisztina Knézy,
Yumei Li ,
Rui Chen ,
Mirella Telles Salgueiro Barboni
and 11 other authors
,
Kim Rodenburg ,
Tamar Hayman ,
Giacomo Calzetti ,
Karolina Kaminska ,
Mathieu Quinodoz ,
Molly Marra ,
Sandrine Wallerich,
Gilad Allon,
L. Ingeborgh van den Born ,
Zoltán Z. Nagy,
Krisztina Knézy,
Yumei Li ,
Rui Chen ,
Mirella Telles Salgueiro Barboni
and 11 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
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Janine Reurink ,
Erik de Vrieze,
Catherina H. Z. Li ,
Emma van Berkel,
Sanne Broekman,
Marco Aben,
Theo Peters,
Jaap Oostrik,
Kornelia Neveling,
Hanka Venselaar,
Mariana Guimarães Ramos ,
Christian Gilissen,
Galuh D. N. Astuti,
Jordi Corominas Galbany,
Janneke J. C. van Lith-Verhoeven
and 7 other authors
,
Erik de Vrieze,
Catherina H. Z. Li ,
Emma van Berkel,
Sanne Broekman,
Marco Aben,
Theo Peters,
Jaap Oostrik,
Kornelia Neveling,
Hanka Venselaar,
Mariana Guimarães Ramos ,
Christian Gilissen,
Galuh D. N. Astuti,
Jordi Corominas Galbany,
Janneke J. C. van Lith-Verhoeven
and 7 other authors
Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant
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Hedwig M. Velde ,
Janine Reurink ,
Sebastian Held,
Catherina H. Z. Li ,
Suzanne Yzer ,
Jaap Oostrik ,
Jack Weeda,
Lonneke Haer-Wigman ,
Helger G. Yntema ,
Susanne Roosing ,
Laurenz Pauleikhoff ,
Clemens Lange ,
Laura Whelan ,
Adrian Dockery ,
Julia Zhu
and 6 other authors
,
Janine Reurink ,
Sebastian Held,
Catherina H. Z. Li ,
Suzanne Yzer ,
Jaap Oostrik ,
Jack Weeda,
Lonneke Haer-Wigman ,
Helger G. Yntema ,
Susanne Roosing ,
Laurenz Pauleikhoff ,
Clemens Lange ,
Laura Whelan ,
Adrian Dockery ,
Julia Zhu
and 6 other authors
Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants
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2021
Zeinab Fadaie ,
Laura Whelan ,
Tamar Ben-Yosef,
Adrian Dockery ,
Zelia Corradi,
Christian Gilissen,
Lonneke Haer-Wigman,
Jordi Corominas,
Galuh D. N. Astuti,
Laura de Rooij,
L. Ingeborgh van den Born,
Caroline C. W. Klaver,
Carel B. Hoyng,
Niamh Wynne,
Emma S. Duignan
and 4 other authors
Download from www.nature.com
,
Laura Whelan ,
Tamar Ben-Yosef,
Adrian Dockery ,
Zelia Corradi,
Christian Gilissen,
Lonneke Haer-Wigman,
Jordi Corominas,
Galuh D. N. Astuti,
Laura de Rooij,
L. Ingeborgh van den Born,
Caroline C. W. Klaver,
Carel B. Hoyng,
Niamh Wynne,
Emma S. Duignan
and 4 other authors
Download from www.nature.com
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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Janine Reurink ,
Adrian Dockery ,
Dominika Oziębło ,
G. Jane Farrar ,
Monika Ołdak ,
Jacoline B. ten Brink ,
Arthur A. Bergen ,
Tuula Rinne ,
Helger G. Yntema ,
Ronald J. E. Pennings ,
L. Ingeborgh van den Born ,
Marco Aben ,
Jaap Oostrik ,
Hanka Venselaar ,
Astrid S. Plomp
and 5 other authors
Download from doi.org
,
Adrian Dockery ,
Dominika Oziębło ,
G. Jane Farrar ,
Monika Ołdak ,
Jacoline B. ten Brink ,
Arthur A. Bergen ,
Tuula Rinne ,
Helger G. Yntema ,
Ronald J. E. Pennings ,
L. Ingeborgh van den Born ,
Marco Aben ,
Jaap Oostrik ,
Hanka Venselaar ,
Astrid S. Plomp
and 5 other authors
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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
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Zeinab Fadaie ,
Laura Whelan ,
Adrian Dockery ,
Catherina H. Z. Li ,
L. Ingeborgh van den Born ,
Carel B. Hoyng ,
Christian Gilissen ,
Jordi Corominas ,
Charlie Rowlands ,
Roly Megaw ,
Anne K. Lampe ,
Frans P. M. Cremers ,
Gwyneth Jane Farrar ,
Jamie M. Ellingford ,
Paul F. Kenna
and 1 other authors
,
Laura Whelan ,
Adrian Dockery ,
Catherina H. Z. Li ,
L. Ingeborgh van den Born ,
Carel B. Hoyng ,
Christian Gilissen ,
Jordi Corominas ,
Charlie Rowlands ,
Roly Megaw ,
Anne K. Lampe ,
Frans P. M. Cremers ,
Gwyneth Jane Farrar ,
Jamie M. Ellingford ,
Paul F. Kenna
and 1 other authors
BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa
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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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