D-Index & Metrics Best Publications

Frans P.M. Cremers

Radboud University Nijmegen
Netherlands

D-Index & Metrics D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines.

Discipline name Citations Publications World Ranking National Ranking

Medicine D-index 96 Citations 26,932 398 World Ranking 5972 National Ranking 209

Genetics D-index 96 Citations 26,656 380 World Ranking 553 National Ranking 21

Overview

What is he best known for?

The fields of study Frans P.M. Cremers is best known for:

Gene
Mutation
Genetics

Frans P.M. Cremers merges Gene with Nonsense mutation in his research. His study in Dystrophy extends to Genetics with its themes. In his work, Frans P.M. Cremers performs multidisciplinary research in Mutation and Mutant. He combines Mutant and Mutation in his research. Phenotype and Genetic heterogeneity are two areas of study in which Frans P.M. Cremers engages in interdisciplinary research. In his works, he undertakes multidisciplinary study on Genetic heterogeneity and Phenotype. He applies his multidisciplinary studies on Retinitis pigmentosa and Retinal degeneration in his research. He undertakes multidisciplinary investigations into Retinal degeneration and Retina in his work. He undertakes interdisciplinary study in the fields of Retina and Retinitis pigmentosa through his works.

His most cited work include:

Leber congenital amaurosis: Genes, proteins and disease mechanisms (673 citations)
Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial (639 citations)
Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis (574 citations)

What are the main themes of his work throughout his whole career to date

Frans P.M. Cremers's looking at Mutation as part of his Missense mutation, Exome sequencing, Proband and Compound heterozygosity and Mutation study. Retinitis pigmentosa and Electroretinography are inextricably linked to his Retinal research. His Ophthalmology research overlaps with Electroretinography and Visual acuity. His work blends Visual acuity and Ophthalmology studies together. Frans P.M. Cremers integrates many fields, such as Genetics and Phenotype, in his works. His Phenotype study frequently draws connections to adjacent fields such as ABCA4. Frans P.M. Cremers undertakes interdisciplinary study in the fields of Gene and Compound heterozygosity through his research. His work blends Allele and Mutation studies together. He undertakes multidisciplinary investigations into Stargardt disease and ABCA4 in his work.

Frans P.M. Cremers most often published in these fields:

Genetics (86.70%)
Gene (86.24%)
Mutation (50.00%)

This overview was generated by a machine learning system which analysed the scientist’s body of work. If you have any feedback, you can contact us here.

Best Publications

Leber congenital amaurosis: genes, proteins and disease mechanisms.

Anneke I. den Hollander;Ronald Roepman;Robert K. Koenekoop;Frans P.M. Cremers.
Progress in Retinal and Eye Research (2008)

972 Citations

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

Robert E MacLaren;Robert E MacLaren;Markus Groppe;Markus Groppe;Alun R Barnard;Charles L Cottriall.
The Lancet (2014)

780 Citations

Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis

Anneke I. den Hollander;Robert K. Koenekoop;Suzanne Yzer;Irma Lopez.
American Journal of Human Genetics (2006)

724 Citations

Autosomal Recessive Retinitis Pigmentosa and Cone-rod Dystrophy Caused by Splice Site Mutations in the Stargardt's Disease Gene ABCR

F.P.M. Cremers;T.J.R. van de Pol;M.A. van Driel;A.I. den Hollander.
Human Molecular Genetics (1998)

604 Citations

Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4

Y. J. M. De Kok;S. M. Van Der Maarel;M. Bitner-Glindzicz;I. Huber.
Science (1995)

540 Citations

Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12).

A.I. den Hollander;J.B. ten Brink;Y.J.M. de Kok;S. van Soest.
Nature Genetics (1999)

531 Citations

Positional cloning of the gene for X-linked retinitis pigmentosa 2

U. Schwahn;S. Lenzner;J Dong;S. Feil.
Nature Genetics (1998)

433 Citations

Cloning of a gene that is rearranged in patients with choroideraemia.

Frans P. M. Cremers;Dorien J. R. van de Pol;Liesbeth P. M. van Kerkhoff;Berend Wieringa.
Nature (1990)

430 Citations

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

Heleen H Arts;Dan Doherty;Sylvia E C van Beersum;Melissa A Parisi.
Nature Genetics (2007)

397 Citations

A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases

Kornelia Neveling;Ilse Feenstra;Christian Gilissen;Lies H. Hoefsloot.
Human Mutation (2013)

394 Citations

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Frequent Co-Authors

External Links

Personal Website for Frans P.M. Cremers