The Impact of Modern Technologies on Molecular Diagnostic Success Rates, with a Focus on Inherited Retinal Dystrophy and Hearing Loss

por de Bruijn, Suzanne E., Fadaie, Zeinab, Cremers, Frans P. M., Kremer, Hannie, Roosing, Susanne
Publicado 2021

Benchmarking deep learning splice prediction tools using functional splice assays

por Riepe, Tabea V., Khan, Mubeen, Roosing, Susanne, Cremers, Frans P. M., 't Hoen, Peter A. C.
Publicado 2021

Salmonella induces prominent gene expression in the rat colon

por Rodenburg, Wendy, Keijer, Jaap, Kramer, Evelien, Roosing, Susanne, Vink, Carolien, Katan, Martijn B, van der Meer, Roelof, Bovee-Oudenhoven, Ingeborg MJ
Publicado 2007

Identification of splice defects due to noncanonical splice site or deep‐intronic variants in ABCA4

por Fadaie, Zeinab, Khan, Mubeen, Del Pozo‐Valero, Marta, Cornelis, Stéphanie S., Ayuso, Carmen, Cremers, Frans P. M., Roosing, Susanne, The ABCA4 study group
Publicado 2019

The identification of a RNA splice variant in TULP1 in two siblings with early‐onset photoreceptor dystrophy

por Verbakel, Sanne K., Fadaie, Zeinab, Klevering, B. Jeroen, van Genderen, Maria M., Feenstra, Ilse, Cremers, Frans P. M., Hoyng, Carel B., Roosing, Susanne
Publicado 2019

Identification of a Complex Allele in IMPG2 as a Cause of Adult-Onset Vitelliform Macular Dystrophy

por Vázquez-Domínguez, Irene, Li, Catherina H. Z., Fadaie, Zeinab, Haer-Wigman, Lonneke, Cremers, Frans P. M., Garanto, Alejandro, Hoyng, Carel B., Roosing, Susanne
Publicado 2022

Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in USH2A

por 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.
Publicado 2022

A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290

por 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
Publicado 2017

The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype

por 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.
Publicado 2019

Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK

por 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
Publicado 2023

Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia

por Azam, Maleeha, Collin, Rob W.J., Shah, Syed Tahir Abbas, Shah, Aftab Ali, Khan, Muhammad Imran, Hussain, Alamdar, Sadeque, Ahmed, Strom, Tim M., Thiadens, Alberta A.H.J., Roosing, Susanne, den Hollander, Anneke I., Cremers, Frans P.M., Qamar, Raheel
Publicado 2010

Long-read technologies identify a hidden inverted duplication in a family with choroideremia

por Fadaie, Zeinab, Neveling, Kornelia, Mantere, Tuomo, Derks, Ronny, Haer-Wigman, Lonneke, den Ouden, Amber, Kwint, Michael, O’Gorman, Luke, Valkenburg, Dyon, Hoyng, Carel B., Gilissen, Christian, Vissers, Lisenka E.L.M., Nelen, Marcel, Cremers, Frans P.M., Hoischen, Alexander, Roosing, Susanne
Publicado 2021

Using single molecule Molecular Inversion Probes as a cost‐effective, high‐throughput sequencing approach to target all genes and loci associated with macular diseases

por 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.
Publicado 2022

Identification of Rare Variants Involved in High Myopia Unraveled by Whole Genome Sequencing

por Haarman, Annechien E.G., Klaver, Caroline C.W., Tedja, Milly S., Roosing, Susanne, Astuti, Galuh, Gilissen, Christian, Hoefsloot, Lies H., van Tienhoven, Marianne, Brands, Tom, Magielsen, Frank J., Eussen, Bert H.J.F.M.M., de Klein, Annelies, Brosens, Erwin, Verhoeven, Virginie J.M.
Publicado 2023

Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients

por 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
Publicado 2023

ABCA4 c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease

por 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
Publicado 2023

Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant

por Smits, Jeroen J., de Bruijn, Suzanne E., Lanting, Cornelis P., Oostrik, Jaap, O’Gorman, Luke, Mantere, Tuomo, Cremers, Frans P. M., Roosing, Susanne, Yntema, Helger G., de Vrieze, Erik, Derks, Ronny, Hoischen, Alexander, Pegge, Sjoert A. H., Neveling, Kornelia, Pennings, Ronald J. E., Kremer, Hannie
Publicado 2021

ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease

por Corradi, Zelia, Salameh, Manar, Khan, Mubeen, Héon, Elise, Mishra, Ketan, Hitti-Malin, Rebekkah J., AlSwaiti, Yahya, Aslanian, Alice, Banin, Eyal, Brooks, Brian P., Zein, Wadih M., Hufnagel, Robert B., Roosing, Susanne, Dhaenens, Claire‐Marie, Sharon, Dror, Cremers, Frans P. M., AlTalbishi, Alaa
Publicado 2022

Disruption of the Basal Body Protein POC1B Results in Autosomal-Recessive Cone-Rod Dystrophy

por Roosing, Susanne, Lamers, Ideke J.C., de Vrieze, Erik, van den Born, L. Ingeborgh, Lambertus, Stanley, Arts, Heleen H., Peters, Theo A., Hoyng, Carel B., Kremer, Hannie, Hetterschijt, Lisette, Letteboer, Stef J.F., van Wijk, Erwin, Roepman, Ronald, den Hollander, Anneke I., Cremers, Frans P.M.
Publicado 2014

The Predicted Splicing Variant c.11+5G>A in RPE65 Leads to a Reduction in mRNA Expression in a Cell-Specific Manner

por 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
Publicado 2022