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Frans P.M. Cremers | doi.page

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Frans P.M. Cremers

Radboud University Nijmegen(NL)University Medical Center(US)Radboud University Medical Center(NL)Maastricht University(NL)

Publications by Year

Research Areas

Retinal Development and Disorders, Retinal Diseases and Treatments, Connexins and lens biology, RNA regulation and disease, Hearing, Cochlea, Tinnitus, Genetics

Most-Cited Works

→ Leber congenital amaurosis: Genes, proteins and disease mechanisms(2008)817 cited
→ Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial(2014)771 cited
→ Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis(2006)674 cited
→ Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)(1999)470 cited
→ Association Between X-Linked Mixed Deafness and Mutations in the POU Domain Gene POU3F4(1995)446 cited
→ Positional cloning of the gene for X-linked retinitis pigmentosa 2(1998)382 cited

→ Leber Congenital Amaurosis and Retinitis Pigmentosa with Coats-like Exudative Vasculopathy Are Associated with Mutations in the Crumbs Homologue 1 (CRB1) Gene(2001)

362 cited

→ Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis(1999)346 cited

→ Mutations in the ABCA4 (ABCR) Gene Are the Major Cause of Autosomal Recessive Cone-Rod Dystrophy(2000)343 cited

→ A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases(2013)338 cited