Cremers, Frans P.M.

Leber congenital amaurosis: Genes, proteins and disease mechanisms

den Hollander, A. I., Roepman, R., Koenekoop, R. K., & Cremers, F. P. M. (2008) · Progress in Retinal and Eye Research

Retinal Development and DisordersGenetic and Kidney Cyst Diseases

Cited by 811

Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial

MacLaren, R. E., Groppe, M., Barnard, A. R., Cottriall, C. L., Tolmachova, T., Seymour, L., Clark, K. R., During, M. J., Cremers, F. P. M., Black, G. C. M., et al. (2014) · The Lancet

Retinal Development and DisordersVirus-based gene therapy research

Cited by 796

Cloning of a gene that is rearranged in patients with choroideraemia

Cremers, F. P. M., van de Pol, D. J. R., van Kerkhoff, L. P. M., Wieringa, B., & Ropers, H.-H. (1990) · Nature

Retinal Development and DisordersRetinal Diseases and Treatments

Cited by 333

Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations

Cremers, F. P. M., Lee, W., Collin, R. W. J., & Allikmets, R. (2020) · Progress in Retinal and Eye Research

Retinal Development and DisordersRetinal Diseases and Treatments

Cited by 315

L1 retrotransposition can occur early in human embryonic development

van den Hurk, J. A. J. M., Meij, I. C., del Carmen Seleme, M., Kano, H., Nikopoulos, K., Hoefsloot, L. H., Sistermans, E. A., de Wijs, I. J., Mukhopadhyay, A., Plomp, A. S., et al. (2007) · Human Molecular Genetics

Chromosomal and Genetic VariationsGenomic variations and chromosomal abnormalities

Cited by 193

Intein-mediated protein trans-splicing expands adeno-associated virus transfer capacity in the retina

Tornabene, P., Trapani, I., Minopoli, R., Centrulo, M., Lupo, M., de Simone, S., Tiberi, P., Dell’Aquila, F., Marrocco, E., Iodice, C., et al. (2019) · Science Translational Medicine

Virus-based gene therapy researchRetinal Development and Disorders

Cited by 192

Oral 9-cis retinoid for childhood blindness due to Leber congenital amaurosis caused by RPE65 or LRAT mutations: an open-label phase 1b trial

Koenekoop, R. K., Sui, R., Sallum, J., van den Born, L. I., Ajlan, R., Khan, A., den Hollander, A. I., Cremers, F. P. M., Mendola, J. D., Bittner, A. K., et al. (2014) · The Lancet

Retinal Development and DisordersRetinoids in leukemia and cellular processes

Cited by 103

High-Resolution Homozygosity Mapping Is a Powerful Tool to Detect Novel Mutations Causative of Autosomal Recessive RP in the Dutch Population

Collin, R. W. J., van den Born, L. I., Klevering, B. J., de Castro-Miró, M., Littink, K. W., Arimadyo, K., Azam, M., Yazar, V., Zonneveld, M. N., Paun, C. C., et al. (2011) · Investigative Opthalmology & Visual Science

Retinal Development and DisordersGenomics and Rare Diseases

Cited by 79

A proteogenomic atlas of the human neural retina

Riepe, T. V., Stemerdink, M., Salz, R., Rey, A. D., de Bruijn, S. E., Boonen, E., Tomkiewicz, T. Z., Kwint, M., Gloerich, J., Wessels, H. J. C. T., et al. (2024) · Frontiers in Genetics

RNA Research and SplicingAdvanced Proteomics Techniques and Applications

Cited by 5

A homozygous frameshift mutation in LRAT causes retinitis punctata albescens

Littink, K. W., van Genderen, M. M., van Schooneveld, M. J., Visser, L., Riemslag, F. C. C., Keunen, J. E. E., Bakker, B., Zonneveld, M. N., den Hollander, A. I., Cremers, F. P. M., et al. (2012) · Ophthalmology

Retinal Development and DisordersRetinal Diseases and Treatments

Cited by 3