Frans P M Cremers

ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2019-2023
Publications (10 Years): 13

Top Venues

International journal of molecular sciences

Human mutation

Human genetics

Molecular genetics & genomic medicine

Radboudumc

Radboud Universiteit (PHD)

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

Affiliation History

Radboudumc Jul 01 2004

Netherlands

Full professor :: Human Genetics

Radboudumc Jan 01 2000 - Jun 30 2004

Netherlands

Associate Professor :: Human Genetics

Radboudumc Jun 01 1990 - Dec 31 1999

Netherlands

Assistant professor :: Human Genetics

University of Texas Southwestern Medical Center at Dallas Sep 01 1992 - Aug 31 1993

United States

Guest fellow :: Molecular Genetics

Education History

Radboud Universiteit Jan 01 1986 - Apr 18 1991

Netherlands

PHD

Radboud University Nijmegen Sep 01 1981 - Dec 18 1984

Netherlands

MSC

Publications

Melita Kaltak, Rocio Blanco-Garavito, Laurie L Molday, Claire-Marie Dhaenens, Eric E Souied, Gerard Platenburg, Jim Swildens, Robert S Molday, Frans P M Cremers
Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function. Journal of translational medicine 21 (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, 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)
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)
Jeroen J Smits, Suzanne E de Bruijn, Cornelis P Lanting, Jaap Oostrik, Luke O'Gorman, Tuomo Mantere, null null, Frans P M Cremers, Susanne Roosing, Helger G Yntema, Erik de Vrieze, Ronny Derks, Alexander Hoischen, Sjoert A H Pegge, Kornelia Neveling, Ronald J E Pennings, Hannie Kremer
Correction to: Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant. Human genetics (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)
Jeroen J Smits, Suzanne E de Bruijn, Cornelis P Lanting, Jaap Oostrik, Luke O'Gorman, Tuomo Mantere, null null, Frans P M Cremers, Susanne Roosing, Helger G Yntema, Erik de Vrieze, Ronny Derks, Alexander Hoischen, Sjoert A H Pegge, Kornelia Neveling, Ronald J E Pennings, Hannie Kremer
Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant. Human genetics (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)
Esmee H Runhart, Patty P A Dhooge, Magda Meester-Smoor, Jeroen Pas, Jan Willem R Pott, Redmer van Leeuwen, Hester Y Kroes, Arthur A Bergen, Yvonne de Jong-Hesse, Alberta A Thiadens, Mary J van Schooneveld, Maria van Genderen, Camiel Boon, Caroline Klaver, L Ingeborg van den Born, Frans P M Cremers, Carel B Hoyng
Stargardt disease: monitoring incidence and diagnostic trends in the Netherlands using a nationwide disease registry. Acta ophthalmologica (2021)
Patrizia Tornabene, Ivana Trapani, Renato Minopoli, Miriam Centrulo, Mariangela Lupo, Sonia de Simone, Paola Tiberi, Fabio Dell'Aquila, Elena Marrocco, Carolina Iodice, Antonella Iuliano, Carlo Gesualdo, Settimio Rossi, Laura Giaquinto, Silvia Albert, Carel B Hoyng, Elena Polishchuk, Frans P M Cremers, Enrico M Surace, Francesca Simonelli, Maria Antonietta De Matteis, Roman S Polishchuk, Alberto Auricchio
Intein-mediated protein trans-splicing expands adeno-associated virus transfer capacity in the retina. Science translational medicine 11 (492) (2020)
Mubeen Khan, Stéphanie S Cornelis, Marta Del Pozo-Valero, Laura Whelan, Esmee H Runhart, Ketan Mishra, Femke Bults, Yahya AlSwaiti, Alaa AlTalbishi, Elfride De Baere, Sandro Banfi, Eyal Banin, Miriam Bauwens, Tamar Ben-Yosef, Camiel J F Boon, L Ingeborgh van den Born, Sabine Defoort, Aurore Devos, Adrian Dockery, Lubica Dudakova, Ana Fakin, G Jane Farrar, Juliana Maria Ferraz Sallum, Kaoru Fujinami, Christian Gilissen, Damjan Glavač, Michael B Gorin, Jacquie Greenberg, Takaaki Hayashi, Ymkje M Hettinga, Alexander Hoischen, Carel B Hoyng, Karsten Hufendiek, Herbert Jägle, Smaragda Kamakari, Marianthi Karali, Ulrich Kellner, Caroline C W Klaver, Bohdan Kousal, Tina M Lamey, Ian M MacDonald, Anna Matynia, Terri L McLaren, Marcela D Mena, Isabelle Meunier, Rianne Miller, Hadas Newman, Buhle Ntozini, Monika Oldak, Marc Pieterse, Osvaldo L Podhajcer, Bernard Puech, Raj Ramesar, Klaus Rüther, Manar Salameh, Mariana Vallim Salles, Dror Sharon, Francesca Simonelli, Georg Spital, Marloes Steehouwer, Jacek P Szaflik, Jennifer A Thompson, Caroline Thuillier, Anna M Tracewska, Martine van Zweeden, Andrea L Vincent, Xavier Zanlonghi, Petra Liskova, Heidi Stöhr, John N De Roach, Carmen Ayuso, Lisa Roberts, Bernhard H F Weber, Claire-Marie Dhaenens, Frans P M Cremers
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics. Genetics in medicine : official journal of the American College of Medical Genetics 22 (7) (2020)
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)

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Publication Activity (10 Years)

Top Topics

Top Venues

Frans P M Cremers