Frans p.m. Cremers - Genetic Mutations

Author Information

Frans P. M. Cremers is a distinguished researcher affiliated with the Department of Human Genetics at Radboud University Medical Center in Nijmegen, The Netherlands. He has made significant contributions to the field of genetics, particularly focusing on retinal dystrophies and other ocular diseases.

Research Contributions

Frans P. M. Cremers has an extensive research portfolio primarily centered on genetic disorders affecting the eyes. His recent works include studies on induced pluripotent stem cell lines carrying variants in RPE65, the identification of founder mutations associated with Stargardt disease, and the development of cost-effective sequencing methods for genetic screening. Moreover, his research has highlighted the importance of personalized genetic counseling and the need for widely accessible genomic testing for rare eye diseases. Through his innovative research methods like single molecule Molecular Inversion Probes and long-read technologies, he has significantly advanced the understanding and diagnosis of macular diseases and other retinal dystrophies.

Aliases

Frans P. M. Cremers is also known by various other names in academic publications, including Frans P.m. Cremers, F. P. Cremers, F. P. M. Cremers, Frans Cremers, and several variations of these names.

Publication and Citation Metrics

Metric	Value
Citation Count	24,896
h-index	91
Paper Count	486

Publications:

Generation of a patient-derived induced pluripotent cell line (SCTCi016-A) carrying a homozygous variant in RPE65.

DOI: 10.1016/j.scr.2022.102689

Year: 2022

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

DOI: 10.1167/iovs.63.4.20

Year: 2022

Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity.

DOI: 10.1016/j.ajhg.2022.01.008

Year: 2022

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

DOI: 10.1101/2022.03.17.22272534

Year: 2022

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

DOI: 10.1016/j.xhgg.2021.100046

Year: 2021

Defining inclusion criteria and endpoints for clinical trials: a prospective cross‐sectional study in CRB1‐associated retinal dystrophies

DOI: 10.1111/aos.14597

Year: 2021

Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases

DOI: 10.3390/ijms22126419

Year: 2021

Senior- Løken Syndrome: A Case Series and Review of The Reno-Retinal Phenotype and Advances of Molecular Diagnosis.

DOI: 10.1097/IAE.0000000000003138

Year: 2021

The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement

DOI: 10.1186/s13023-021-01756-x

Year: 2021

Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

DOI: 10.1038/s41598-021-89275-4

Year: 2021

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