What is he best known for?
The fields of study he is best known for:
His primary scientific interests are in Genetics, Retinitis pigmentosa, Gene, Mutation and Missense mutation.
His is involved in several facets of Genetics study, as is seen by his studies on Exon, Candidate gene, Frameshift mutation, CRB1 and Allele.
Frans P.M. Cremers has researched Retinitis pigmentosa in several fields, including Retinal degeneration, Stargardt disease, Genetic heterogeneity and Genotype.
His Gene research is multidisciplinary, incorporating perspectives in Extracellular and Molecular biology.
His work deals with themes such as Ciliary transition zone, RPGRIP1L and Cilium, which intersect with Mutation.
His Missense mutation research incorporates themes from Achromatopsia, GNAT2 and Compound heterozygosity.
His most cited work include:
- Leber congenital amaurosis: genes, proteins and disease mechanisms. (567 citations)
- Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial (531 citations)
- Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis (483 citations)
What are the main themes of his work throughout his whole career to date?
His primary areas of study are Genetics, Retinitis pigmentosa, Gene, Mutation and Missense mutation.
His Genetics study frequently draws connections to adjacent fields such as Molecular biology.
His Retinitis pigmentosa research incorporates elements of Retinal degeneration, Genetic heterogeneity and Electroretinography.
Frans P.M. Cremers frequently studies issues relating to CRB1 and Mutation.
His biological study deals with issues like Compound heterozygosity, which deal with fields such as Proband.
Frans P.M. Cremers interconnects Nonsense mutation, Single-nucleotide polymorphism, Mutation and Frameshift mutation in the investigation of issues within Disease gene identification.
He most often published in these fields:
- Genetics (78.99%)
- Retinitis pigmentosa (31.16%)
- Gene (25.85%)
What were the highlights of his more recent work (between 2015-2021)?
- Genetics (78.99%)
- Stargardt disease (13.29%)
- Retinitis pigmentosa (31.16%)
In recent papers he was focusing on the following fields of study:
Frans P.M. Cremers focuses on Genetics, Stargardt disease, Retinitis pigmentosa, ABCA4 and Gene.
Genetics is a component of his Allele, Exome sequencing, splice, Proband and Exon studies.
His research investigates the connection between Stargardt disease and topics such as Missing heritability problem that intersect with problems in Genomics.
His Retinitis pigmentosa study integrates concerns from other disciplines, such as Sanger sequencing, Visual acuity, Compound heterozygosity and Retinal degeneration.
His ABCA4 research integrates issues from Cone-Rod Dystrophy, Late onset, Locus and Progenitor cell.
His research integrates issues of Alu element and Mendelian inheritance in his study of Mutation.
Between 2015 and 2021, his most popular works were:
- Novel genetic causes for cerebral visual impairment (76 citations)
- In Silico Functional Meta-Analysis of 5,962 ABCA4 Variants in 3,928 Retinal Dystrophy Cases. (68 citations)
- Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides. (62 citations)
In his most recent research, the most cited papers focused on:
Frans P.M. Cremers mainly investigates Genetics, Retinitis pigmentosa, Gene, Stargardt disease and ABCA4.
His study in Genetics concentrates on Allele, Exon, Mutation, Exome sequencing and Missense mutation.
The various areas that Frans P.M. Cremers examines in his Mutation study include Intronic Mutation, Rab and Choroideremia.
The concepts of his Retinitis pigmentosa study are interwoven with issues in Dystrophy, Genetic heterogeneity and Visual acuity.
His work in the fields of splice, RNA splicing and Phenotype overlaps with other areas such as GRIN2B.
His studies in ABCA4 integrate themes in fields like Penetrance, Proband and Allele frequency.
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