S
Susanne Roosing
Researcher at Radboud University Nijmegen
Publications - 75
Citations - 3034
Susanne Roosing is an academic researcher from Radboud University Nijmegen. The author has contributed to research in topics: Retinitis pigmentosa & Medicine. The author has an hindex of 26, co-authored 55 publications receiving 2406 citations. Previous affiliations of Susanne Roosing include Radboud University Nijmegen Medical Centre & Howard Hughes Medical Institute.
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Journal ArticleDOI
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes
Gabrielle Wheway,Miriam Schmidts,Dorus A. Mans,Katarzyna Szymanska,Thanh Minh T. Nguyen,Hilary E. Racher,Ian G. Phelps,Grischa Toedt,Julie Kennedy,Kirsten A. Wunderlich,Nasrin Sorusch,Zakia Abdelhamed,Subaashini Natarajan,Warren Herridge,Jeroen van Reeuwijk,Nicola Horn,Karsten Boldt,David A. Parry,Stef J.F. Letteboer,Susanne Roosing,Matthew Adams,Sandra M. Bell,Jacquelyn Bond,Julie Higgins,Ewan E. Morrison,Darren C. Tomlinson,Gisela G. Slaats,Teunis J. P. van Dam,Lijia Huang,Kristin Kessler,Andreas Giessl,Clare V. Logan,Evan A. Boyle,Jay Shendure,Shamsa Anazi,Mohammed A. Aldahmesh,Selwa A. Al Hazzaa,Selwa A. Al Hazzaa,Robert A. Hegele,Carole Ober,Patrick Frosk,Aizeddin A. Mhanni,Bernard N. Chodirker,Albert E. Chudley,Ryan E. Lamont,Francois P. Bernier,Chandree L. Beaulieu,Paul M. K. Gordon,Richard T. Pon,Clem Donahue,A. James Barkovich,Louis Wolf,Carmel Toomes,Christian Thiel,Kym M. Boycott,Martin McKibbin,Chris F. Inglehearn,Fiona Stewart,Heymut Omran,Martijn A. Huynen,Panagiotis I. Sergouniotis,Panagiotis I. Sergouniotis,Fowzan S. Alkuraya,Jillian S. Parboosingh,A. Micheil Innes,Colin E. Willoughby,Rachel H. Giles,Andrew R. Webster,Andrew R. Webster,Marius Ueffing,Marius Ueffing,Oliver E. Blacque,Joseph G. Gleeson,Uwe Wolfrum,Philip L. Beales,Toby J. Gibson,Dan Doherty,Hannah M. Mitchison,Ronald Roepman,Colin A. Johnson +79 more
TL;DR: A whole-genome siRNA-based reverse genetics screen for defects in biogenesis and/or maintenance of the primary cilium is described and insights into ciliogenesis complexity and roles for unanticipated pathways in human genetic disease are provided.
Journal ArticleDOI
Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.
Alberta A H J Thiadens,Alberta A H J Thiadens,Anneke I. den Hollander,Anneke I. den Hollander,Susanne Roosing,Sander B. Nabuurs,Renate C. Zekveld-Vroon,Rob W.J. Collin,Rob W.J. Collin,Elfride De Baere,Robert K. Koenekoop,Mary J. van Schooneveld,Tim M. Strom,Janneke J.C. van Lith-Verhoeven,Andrew J. Lotery,Norka van Moll-Ramirez,Bart P. Leroy,L. Ingeborgh van den Born,Carel B. Hoyng,Frans P.M. Cremers,Frans P.M. Cremers,Caroline C W Klaver +21 more
TL;DR: The findings identify PDE6C as a gene for cone photoreceptor disorders and show that arCD and ACHM constitute genetically and clinically overlapping phenotypes.
Journal ArticleDOI
Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia
Susanne Kohl,Ditta Zobor,Wei-Chieh Chiang,Nicole Weisschuh,Jennifer Staller,Irene Gonzalez Menendez,Stanley Chang,Susanne C. Beck,Marina Garcia Garrido,Vithiyanjali Sothilingam,Mathias W. Seeliger,Franco Stanzial,Francesco Benedicenti,Francesca Inzana,Elise Héon,Ajoy Vincent,Jill Beis,Tim M. Strom,Günther Rudolph,Susanne Roosing,Anneke I. den Hollander,Frans P.M. Cremers,Irma Lopez,Huanan Ren,Anthony T. Moore,Andrew R. Webster,Michel Michaelides,Robert K. Koenekoop,Eberhart Zrenner,Randal J. Kaufman,Stephen H. Tsang,Bernd Wissinger,Jonathan H. Lin +32 more
TL;DR: Achromatopsia (ACHM) is an autosomal recessive disorder characterized by color blindness, photophobia, nystagmus and severely reduced visual acuity.
Journal ArticleDOI
Progressive loss of cones in Achromatopsia: an imaging study using spectral-domain optical coherence tomography.
Alberta A H J Thiadens,Ville Somervuo,L. Ingeborgh van den Born,Susanne Roosing,Mary J. van Schooneveld,Mary J. van Schooneveld,Robert W A M Kuijpers,Norka van Moll-Ramirez,Frans P.M. Cremers,Carel B. Hoyng,Caroline C W Klaver +10 more
TL;DR: The present results imply that intervention should be applied in the first decade of ACHM, which is not a stationary disease and the first signs of cone cell loss occur in early childhood.
Journal ArticleDOI
Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome
Valeska Frank,Anneke I. den Hollander,Nadina Ortiz Brüchle,Marijke N. Zonneveld,Gudrun Nürnberg,Christian Becker,Gabriele du Bois,Heide Kendziorra,Susanne Roosing,Jan Senderek,Peter Nürnberg,Frans P.M. Cremers,Klaus Zerres,Carsten Bergmann +13 more
TL;DR: These findings add to the increasing body of evidence that ciliopathies can cause a broad spectrum of disease phenotypes, and pleiotropic effects of CEP290 mutations range from single organ involvement with isolated Leber congenital amaurosis to Joubert syndrome and lethal early embryonic multisystemic malformations in Meckel‐Gruber syndrome.