Frans P.M. Cremers
Affiliations: | Human Genetics | Radboud University Nijmegen, Nijmegen, Gelderland, Netherlands |
Area:
identification and characterisation of novel genes implicated in inherited retinal disordersWebsite:
http://ncmls.nl/people/cremers/Google:
"Frans Cremers"Bio:
https://www.radboudumc.nl/OverhetRadboudumc/Hoogleraren/Pages/FransCremers.aspx
Cross-listing: GenetiTree
Parents
Sign in to add mentor| H.-Hilger Ropers | grad student | 1991 | Radboud University Nijmegen | |
| (Positional cloning of a candidate gene for choroideremia) | ||||
| Bé Wieringa | grad student | 1991 | Radboud University Nijmegen | |
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Publications
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| Capasso D, Zeuli R, Arno G, et al. (2025) Targeted long-read cDNA sequencing reveals novel splice-altering pathogenic variants causing retinal dystrophies. Hgg Advances. 100442 |
| Yahya S, Smith CE, Poulter JA, et al. (2022) Late-onset autosomal dominant macular degeneration caused by deletion of the CRX gene. Ophthalmology |
| Weisz Hubshman M, Broekman S, van Wijk E, et al. (2017) Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosa. Human Molecular Genetics |
| Ghofrani M, Yahyaei M, Brunner HG, et al. (2017) Homozygosity Mapping and Targeted Sanger Sequencing Identifies Three Novel CRB1 (Cumbs homologue 1) Mutations in Iranian Retinal Degeneration Families Iranian Biomedical Journal |
| Talib M, van Schooneveld MJ, van Genderen MM, et al. (2017) Genotypic and Phenotypic Characteristics of CRB1-Associated Retinal Dystrophies: A Long-Term Follow-up Study. Ophthalmology |
| Haer-Wigman L, van Zelst-Stams WA, Pfundt R, et al. (2017) Diagnostic exome sequencing in 266 Dutch patients with visual impairment. European Journal of Human Genetics : Ejhg |
| Cornelis SS, Bax NM, Zernant J, et al. (2017) In silico Functional Meta-Analysis of 5,962 ABCA4 Variants in 3,928 Retinal Dystrophy Cases. Human Mutation |
| Bedoni N, Haer-Wigman L, Vaclavik V, et al. (2016) Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility. Human Molecular Genetics. 25: 4546-4555 |
| Astuti GD, Arno G, Hull S, et al. (2016) Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa. Investigative Ophthalmology & Visual Science. 57: 6180-6187 |
| Maria M, Lamers IJ, Schmidts M, et al. (2016) Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum. Scientific Reports. 6: 34764 |