Susanne Roosing

ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2016-2024
Publications (10 Years): 24

Top Topics

Intellectual Disability

Dna Methylation

Top Venues

NPJ genomic medicine

Current issues in molecular biology

This page only lists publications with an associated author ORCID identifier.

Publications

Iris Deitch, Sofia Itskov, Daan Panneman, Aasem Abu Shtaya, Tal Saban, Yael Goldberg, Miriam Ehrenberg, Frans P M Cremers, Susanne Roosing, Tamar Ben-Yosef
Autosomal Recessive Rod-Cone Dystrophy with Mild Extra-Ocular Manifestations Due to a Splice-Affecting Variant in BBS9 . Current issues in molecular biology 46 (3) (2024)
Rebekkah J Hitti-Malin, Daan M Panneman, Zelia Corradi, Erica G M Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard Heinrich Friedrich Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Francesca Simonelli, Tamar Ben-Yosef, Damjan Glavač, G Jane Farrar, Carmen Ayuso, Petra Liskova, Lubica Dudakova, Marie Vajter, Monika Ołdak, Jacek P Szaflik, Anna Matynia, Michael B Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfriede De Baere, Carel B Hoyng, Catherina H Z Li, Caroline C W Klaver, Chris F Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeina, Gita Taurina, Andrea L Vincent, Lisa Roberts, Rajkumar Ramesar, Giovanna Sartor, Elena Luppi, Susan M Downes, L Ingeborgh van den Born, Terri L McLaren, John N De Roach, Tina M Lamey, Jennifer A Thompson, Fred K Chen, Anna M Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J Bolz, Hülya Kayserili, Susanne Roosing, Frans P M Cremers
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes. Biomolecules 14 (3) (2024)
Rebekkah J Hitti-Malin, Daan M Panneman, Zelia Corradi, Erica G M Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard Heinrich Friedrich Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Francesca Simonelli, Tamar Ben-Yosef, Damjan Glavač, G Jane Farrar, Carmen Ayuso, Petra Liskova, Lubica Dudakova, Marie Vajter, Monika Ołdak, Jacek P Szaflik, Anna Matynia, Michael B Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfriede De Baere, Carel B Hoyng, Catherina H Z Li, Caroline C W Klaver, Chris F Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeina, Gita Taurina, Andrea L Vincent, Lisa Roberts, Rajkumar Ramesar, Giovanna Sartor, Elena Luppi, Susan M Downes, L Ingeborgh van den Born, Terri L McLaren, John N De Roach, Tina M Lamey, Jennifer A Thompson, Fred K Chen, Anna M Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J Bolz, Hülya Kayserili, Susanne Roosing, Frans P M Cremers
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes. Biomolecules 14 (3) (2024)
Iris Deitch, Sofia Itskov, Daan Panneman, Aasem Abu Shtaya, Tal Saban, Yael Goldberg, Miriam Ehrenberg, Frans P M Cremers, Susanne Roosing, Tamar Ben-Yosef
Autosomal Recessive Rod-Cone Dystrophy with Mild Extra-Ocular Manifestations Due to a Splice-Affecting Variant in BBS9 . Current issues in molecular biology 46 (3) (2024)
Rebekkah J Hitti-Malin, Daan M Panneman, Zelia Corradi, Erica G M Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard Heinrich Friedrich Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Francesca Simonelli, Tamar Ben-Yosef, Damjan Glavač, G Jane Farrar, Carmen Ayuso, Petra Liskova, Lubica Dudakova, Marie Vajter, Monika Ołdak, Jacek P Szaflik, Anna Matynia, Michael B Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfriede De Baere, Carel B Hoyng, Catherina H Z Li, Caroline C W Klaver, Chris F Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeina, Gita Taurina, Andrea L Vincent, Lisa Roberts, Rajkumar Ramesar, Giovanna Sartor, Elena Luppi, Susan M Downes, L Ingeborgh van den Born, Terri L McLaren, John N De Roach, Tina M Lamey, Jennifer A Thompson, Fred K Chen, Anna M Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J Bolz, Hülya Kayserili, Susanne Roosing, Frans P M Cremers
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes. Biomolecules 14 (3) (2024)
Iris Deitch, Sofia Itskov, Daan Panneman, Aasem Abu Shtaya, Tal Saban, Yael Goldberg, Miriam Ehrenberg, Frans P M Cremers, Susanne Roosing, Tamar Ben-Yosef
Autosomal Recessive Rod-Cone Dystrophy with Mild Extra-Ocular Manifestations Due to a Splice-Affecting Variant in BBS9 . Current issues in molecular biology 46 (3) (2024)
Rebekkah J Hitti-Malin, Daan M Panneman, Zelia Corradi, Erica G M Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard Heinrich Friedrich Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Francesca Simonelli, Tamar Ben-Yosef, Damjan Glavač, G Jane Farrar, Carmen Ayuso, Petra Liskova, Lubica Dudakova, Marie Vajter, Monika Ołdak, Jacek P Szaflik, Anna Matynia, Michael B Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfriede De Baere, Carel B Hoyng, Catherina H Z Li, Caroline C W Klaver, Chris F Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeina, Gita Taurina, Andrea L Vincent, Lisa Roberts, Rajkumar Ramesar, Giovanna Sartor, Elena Luppi, Susan M Downes, L Ingeborgh van den Born, Terri L McLaren, John N De Roach, Tina M Lamey, Jennifer A Thompson, Fred K Chen, Anna M Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J Bolz, Hülya Kayserili, Susanne Roosing, Frans P M Cremers
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes. Biomolecules 14 (3) (2024)
Rebekkah J Hitti-Malin, Daan M Panneman, Zelia Corradi, Erica G M Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard Heinrich Friedrich Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Francesca Simonelli, Tamar Ben-Yosef, Damjan Glavač, G Jane Farrar, Carmen Ayuso, Petra Liskova, Lubica Dudakova, Marie Vajter, Monika Ołdak, Jacek P Szaflik, Anna Matynia, Michael B Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfriede De Baere, Carel B Hoyng, Catherina H Z Li, Caroline C W Klaver, Chris F Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeina, Gita Taurina, Andrea L Vincent, Lisa Roberts, Rajkumar Ramesar, Giovanna Sartor, Elena Luppi, Susan M Downes, L Ingeborgh van den Born, Terri L McLaren, John N De Roach, Tina M Lamey, Jennifer A Thompson, Fred K Chen, Anna M Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J Bolz, Hülya Kayserili, Susanne Roosing, Frans P M Cremers
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes. Biomolecules 14 (3) (2024)
Benjamin McClinton, Zelia Corradi, Martin McKibbin, Daan M Panneman, Susanne Roosing, Erica G M Boonen, Manir Ali, Christopher Mark Watson, David H Steel, Frans P M Cremers, Chris F Inglehearn, Rebekkah J Hitti-Malin, Carmel Toomes
Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK. Genes 14 (1) (2023)
Benjamin McClinton, Zelia Corradi, Martin McKibbin, Daan M Panneman, Susanne Roosing, Erica G M Boonen, Manir Ali, Christopher Mark Watson, David H Steel, Frans P M Cremers, Chris F Inglehearn, Rebekkah J Hitti-Malin, Carmel Toomes
Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK. Genes 14 (1) (2023)
Benjamin McClinton, Zelia Corradi, Martin McKibbin, Daan M Panneman, Susanne Roosing, Erica G M Boonen, Manir Ali, Christopher Mark Watson, David H Steel, Frans P M Cremers, Chris F Inglehearn, Rebekkah J Hitti-Malin, Carmel Toomes
Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK. Genes 14 (1) (2023)
Janine Reurink, Jaap Oostrik, Marco Aben, Mariana Guimarães Ramos, Emma van Berkel, Monika Ołdak, Erwin van Wijk, Hannie Kremer, Susanne Roosing, Frans P M Cremers
Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in USH2A . International journal of molecular sciences 23 (21) (2022)
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, Charlotte W Ockeloen, Lonneke Haer-Wigman, Carel B Hoyng, Frans P M Cremers, Hannie Kremer, Susanne Roosing, Erwin van Wijk
Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant. NPJ genomic medicine 7 (1) (2022)
Neringa Jurkute, Francesca Cancellieri, Lisa Pohl, Catherina H Z Li, Robert A Heaton, Janine Reurink, James Bellingham, Mathieu Quinodoz, Georgia Yioti, Maria Stefaniotou, Marianna E Weener, Theresia Zuleger, Tobias B Haack, Katarina Stingl, null null, Carel B Hoyng, Omar A Mahroo, Iain Hargreaves, F Lucy Raymond, Michel Michaelides, Carlo Rivolta, Susanne Kohl, Susanne Roosing, Andrew R Webster, Gavin Arno
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype. NPJ genomic medicine 7 (1) (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, Alejandro Garanto
The Predicted Splicing Variant c.11+5G>A in RPE65 Leads to a Reduction in mRNA Expression in a Cell-Specific Manner. Cells 11 (22) (2022)
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 J B Pauleikhoff, Clemens A Lange, Laura Whelan, Adrian Dockery, Julia Zhu, David J Keegan, Gwyneth Jane Farrar, Hannie Kremer, Cornelis P Lanting, Markus Damme, Ronald J E Pennings
Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants. Human genetics 141 (11) (2022)
Janine Reurink, Adrian Dockery, Dominika Oziębło, Gwyneth 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, M Imran Khan, Erwin van Wijk, Frans P M Cremers, Susanne Roosing, Hannie Kremer
Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases. International journal of molecular sciences 22 (12) (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, Paul F Kenna, Frans P M Cremers, G Jane Farrar, Susanne Roosing
Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases. NPJ genomic medicine 6 (1) (2021)
Tabea V Riepe, Mubeen Khan, Susanne Roosing, Frans P M Cremers, Peter A C 't Hoen
Benchmarking deep learning splice prediction tools using functional splice assays. Human mutation 42 (7) (2021)
Suzanne E de Bruijn, Zeinab Fadaie, Frans P M Cremers, Hannie Kremer, Susanne Roosing
The Impact of Modern Technologies on Molecular Diagnostic Success Rates, with a Focus on Inherited Retinal Dystrophy and Hearing Loss. International journal of molecular sciences 22 (6) (2021)
Zeinab Fadaie, Laura Whelan, Adrian Dockery, Catherina H Z Li, L Ingeborgh van den Born, Carel B Hoyng, Christian Gilissen, Christian Gilissen, Charlie F Rowlands, Roly Megaw, Anne K Lampe, Frans P M Cremers, Gwyneth Jane Farrar, Jamie M Ellingford, Paul F Kenna, Susanne Roosing
BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa. Journal of medical genetics (2021)
Zeinab Fadaie, Mubeen Khan, Marta Del Pozo-Valero, Stéphanie S Cornelis, Carmen Ayuso, Frans P M Cremers, Susanne Roosing, null The Abca Study Group
Identification of splice defects due to noncanonical splice site or deep-intronic variants in ABCA4. Human mutation 40 (12) (2019)
Sanne K Verbakel, Zeinab Fadaie, B Jeroen Klevering, Maria M van Genderen, Ilse Feenstra, Frans P M Cremers, Carel B Hoyng, Susanne Roosing
The identification of a RNA splice variant in TULP1 in two siblings with early-onset photoreceptor dystrophy. Molecular genetics & genomic medicine 7 (6) (2019)
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, Paul R Mark, Trudy McKanna, Joachim Van Keirsbilck, Philippe Moerman, Andrea Poretti, Ratna Puri, Hilde Van Esch, Joseph G Gleeson, Enza Maria Valente
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. Journal of medical genetics 53 (9) (2016)