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F

Frans P.M. Cremers

radboud university medical center

92H-index
500Paper Count
2.7WCitation Count
Published Papers 202
Publication Date
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Minigene Splice Assays Allow Pathogenicity Reclassification of RPE65 Variants of Uncertain Significance
errGenes
IF2.8
err2026-03-03
err0
errOAAI
errDaan M. Panneman; Erica G. M. Boonen; Zelia Corradi; Frans P. M. Cremers; Susanne Roosing
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Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach
errEye
IF3.2
err2025-09-09
err0
errOAAI
errAnna Esteve-Garcia; Ariadna Padró-Miquel; Jaume Català-Mora; Cristina Sau; Delia Yubero; Zelia Corradi; Frans P. M. Cremers; Pilar Barberán-Martínez; José M. Millán; Gema García-García; Ilyana Ismael; Luis Arias; Estefania Cobos; Cinthia Aguilera
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Unravelling genotype-phenotype correlations in Stargardt disease using patient-derived retinal organoids
errCELL DEATH & DISEASE
IF9.6
err2025-02-19
err0
errOAAI
errWatson, Avril; Queen, Rachel; Ferrandez-Peral, Luis; Dorgau, Birthe; Collin, Joseph; Nelson, Andrew; Hussain, Rafiqul; Coxhead, Jonathan; Mccorkindale, Michael; Atkinson, Robert; Zerti, Darin; Chichagova, Valeria; Conesa, Ana; Armstrong, Lyle; Cremers, Frans P. M.; Lako, Majlinda
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Genetic complexity of inherited retinal diseases in a large italian cohort
errACTA OPHTHALMOLOGICA
IF2.8
err2025-01-19
err0
PREAI
errKarali, M; Testa, F; Di Iorio, V; Torella, A; Zeuli, R; Scarpato, M; Romano, F; Onore, ME; Pizzo, M; Melillo, P; Brunetti-Pierri, R; Passerini, I; Pelo, E; Cremers, FPM; Esposito, G; Nigro, V; Simonelli, F; Banfi, S
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Next-generation sequencing to genetically diagnose a diverse range of inherited eye disorders in 15 consanguineous families from Pakistan
errEXPERIMENTAL EYE RESEARCH
IF2.7
err2024-07-01
err1
errOAAI
errBasharat, Rabia; de Bruijn, Suzanne E.; Zahid, Muhammad; Rodenburg, Kim; Hitti-Malin, Rebekkah J.; Rodriguez-Hidalgo, Maria; Boonen, Erica G. M.; Jarral, Afeefa; Mahmood, Arif; Corominas, Jordi; Khalil, Sharqa; Zai, Jawaid Ahmed; Ali, Ghazanfar; Ruiz-Ederra, Javier; Gilissen, Christian; Cremers, Frans P. M.; Ansar, Muhammad; Panneman, Daan M.; Roosing, Susanne
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Antisense Oligonucleotide-Based Rescue of Complex Intronic Splicing Defects in ABCA4
errNUCLEIC ACID THERAPEUTICS
IF4.7
err2024-06-01
err1
PREAI
errCorradi, Zelia; Hitti-Malin, Rebekkah J.; de Rooij, Laura A.; Garanto, Alejandro; Collin, Rob W. J.; Cremers, Frans P. M.
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Preclinical Development of Antisense Oligonucleotides to Rescue Aberrant Splicing Caused by an Ultrarare ABCA4 Variant in a Child with Early-Onset Stargardt Disease
errCELLS
IF5.2
err2024-03-29
err3
errOAAI
errSuarez-Herrera, Nuria; Li, Catherina H. Z.; Leijsten, Nico; Karjosukarso, Dyah W.; Corradi, Zelia; Bukkems, Femke; Duijkers, Lonneke; Cremers, Frans P. M.; Hoyng, Carel B.; Garanto, Alejandro; Collin, Rob W. J.
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Cost-effective smMIPs-based sequencing to provide a genetic diagnosis for patients with retinitis pigmentosa, Leber congenital amaurosis and macular diseases
errACTA OPHTHALMOLOGICA
IF2.8
err2024-01-18
err0
errOAAI
errPanneman, Daan M.; Hitti-Malin, Rebekkah J.; Roosing, Susanne; Cremers, Frans P. M.
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QR-1011 restores defective ABCA4 splicing caused by multiple severe ABCA4 variants underlying Stargardt disease
errSCIENTIFIC REPORTS
IF3.9
err2024-01-06
err0
errOAAI
errKaltak, Melita; de Bruijn, Petra; van Leeuwen, Willemijn; Platenburg, Gerard; Cremers, Frans P. M.; Collin, Rob W. J.; Swildens, Jim
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Study of Late-Onset Stargardt Type 1 Disease Characteristics, Genetics, and Progression
errOPHTHALMOLOGY
IF9.5
err2024-01-01
err7
errOAAI
errLi, Catherina H. Z.; Pas, Jeroen A. A. H.; Corradi, Zelia; Hitti-Malin, Rebekkah J.; Hoogstede, Anne; Runhart, Esmee H.; Dhooge, Patty P. A.; Collin, Rob W. J.; Cremers, Frans P. M.; Hoyng, Carel B.
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Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework
errHUMAN MUTATION
IF3.7
err2023-12-26
err7
errOAAI
errCornelis, Stephanie S.; Bauwens, Miriam; Haer-Wigman, Lonneke; De Bruyne, Marieke; Pantrangi, Madhulatha; De Baere, Elfride; Hufnagel, Robert B.; Dhaenens, Claire-Marie; Cremers, Frans P. M.
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Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability
errHUMAN GENETICS AND GENOMICS ADVANCES
IF3.6
err2023-10-01
err7
errOAAI
errCorradi, Zelia; Khan, Mubeen; Hitti-Malin, Rebekkah; Mishra, Ketan; Whelan, Laura; Cornelis, Stephanie S.; Hoyng, Carel B.; Kampjarvi, Kati; Klaver, Caroline C. W.; Liskova, Petra; Stoehr, Heidi; Weber, Bernhard H. F.; Banfi, Sandro; Farrar, G. Jane; Sharon, Dror; Zernant, Jana; Allikmets, Rando; Dhaenens, Claire-Marie; Cremers, Frans P. M.
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ABCA4 Variant c.5714+5G>A in Trans With Null Alleles Results in Primary RPE Damage
errINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
IF4.7
err2023-09-20
err2
errOAAI
errSajovic, Jana; Meglic, Andrej; Corradi, Zelia; Khan, Mubeen; Maver, Ales; Vidmar, Martina Jarc; Hawlina, Marko; Cremers, Frans P. M.; Fakin, Ana
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errSave
Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function
errJOURNAL OF TRANSLATIONAL MEDICINE
IF7.5
err2023-08-16
err6
errOAAI
errKaltak, Melita; Blanco-Garavito, Rocio; Molday, Laurie L.; Dhaenens, Claire-Marie; Souied, Eric E.; Platenburg, Gerard; Swildens, Jim; Molday, Robert S.; Cremers, Frans P. M.
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Stargardt disease-associated missense and synonymous ABCA4 variants result in aberrant splicing
errHUMAN MOLECULAR GENETICS
IF3.2
err2023-08-09
err3
errOAAI
errKaltak, Melita; Corradi, Zelia; Collin, Rob W. J.; Swildens, Jim; Cremers, Frans P. M.
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Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients
errSCIENTIFIC REPORTS
IF3.9
err2023-06-09
err3
errOAAI
errWhelan, Laura; Dockery, Adrian; Stephenson, Kirk A. J.; Zhu, Julia; Kopcic, 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
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Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction
errHUMAN GENETICS AND GENOMICS ADVANCES
IF3.6
err2023-04-01
err14
errOAAI
errReurink, Janine; Weisschuh, Nicole; Garanto, Alejandro; Dockery, Adrian; van den Born, L. Ingeborgh; Fajardy, Isabelle; Haer-Wigman, Lonneke; Kohl, Susanne; Wissinger, Bernd; Farrar, G. Jane; Ben-Yosef, Tamar; Pfiffner, Fatma Kivrak; Berger, Wolfgang; Weener, Marianna E.; Dudakova, Lubica; Liskova, Petra; Sharon, Dror; Salameh, Manar; Offenheim, Ashley; Heon, Elise; Girotto, Giorgia; Gasparini, Paolo; Morgan, Anna; Bergen, Arthur A.; ten Brink, Jacoline B.; Klaver, Caroline C. W.; Tranebjaerg, Lisbeth; Rendtorff, Nanna D.; Vermeer, Sascha; Smits, Jeroen J.; Pennings, Ronald J. E.; Aben, Marco; Oostrik, Jaap; Astuti, Galuh D. N.; Galbany, Jordi Corominas; Kroes, Hester Y.; Phan, Milan; Zelst-Stams, Wendy A. G. van; Thiadens, Alberta A. H. J.; Verheij, Joke B. G. M.; Schooneveld, Mary J. van; Bruijn, Suzanne E. de; Li, Catherina H. Z.; Hoyng, Carel B.; Gilissen, Christian; Vissers, Lisenka E. L. M.; Cremers, Frans P. M.; Kremer, Hannie; van Wijk, Erwin; Roosing, Susanne
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errSave
Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease- associated genes
errGENETICS IN MEDICINE
IF6.2
err2023-03-01
err24
errOAAI
errBruijn, Suzanne E. de; Rodenburg, Kim; Corominas, Jordi; Ben-Yosef, Tamar; Reurink, Janine; Kremer, Hannie; Whelan, Laura; Plomp, Astrid S.; Berger, Wolfgang; Farrar, G. Jane; Kovaecs, Arpaed Ferenc; Fajardy, Isabelle; Hitti-Malin, Rebekkah J.; Weisschuh, Nicole; Weener, Marianna E.; Sharon, Dror; Pennings, Ronald J. E.; Haer-Wigman, Lonneke; Hoyng, Carel B.; Nelen, Marcel R.; Vissers, Lisenka E. L. M.; van den Born, L. Ingeborgh; Gilissen, Christian; Cremers, Frans P. M.; Hoischen, Alexander; Neveling, Kornelia; Roosing, Susanne
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errSave
Late-Onset Autosomal Dominant Macular Degeneration Caused by Deletion of the CRX Gene
errOPHTHALMOLOGY
IF9.5
err2023-01-01
err8
errOAAI
errYahya, Samar; Smith, Claire E. L.; Poulter, James A.; McKibbin, Martin; Arno, Gavin; Ellingford, Jamie; Kampjarvi, Kati; Khan, Muhammad, I; Cremers, Frans P. M.; Hardcastle, Alison J.; Castle, Bruce; Steel, David H. W.; Webster, Andrew R.; Black, Graeme C.; El-Asrag, Mohammed E.; Ali, Manir; Toomes, Carmel; Inglehearn, Chris F.
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Correction of the Splicing Defect Caused by a Recurrent Variant in ABCA4 (c.769-784C>T) That Underlies Stargardt Disease
errCELLS
IF5.2
err2022-12-07
err13
errOAAI
errTomkiewicz, Tomasz Z. Z.; Nieuwenhuis, Sara E. E.; Cremers, Frans P. M.; Garanto, Alejandro; Collin, Rob W. J.
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Research Directions

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Co-authors
Cooperation Journals
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Donna M. Muzny
H-index: 156 · Papers: 693
J
James R. Lupski
H-index: 144 · Papers: 1.1K
P
Peter Nürnberg
H-index: 127 · Papers: 755
Z
Zoltán Kutalik
H-index: 117 · Papers: 598
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