What is he best known for?
The fields of study he is best known for:
His primary areas of investigation include Genetics, Retinitis pigmentosa, Disease gene identification, CRB1 and Retinal degeneration.
His studies in Frameshift mutation, Phenotype, Gene, Mutation and Ciliopathies are all subfields of Genetics research.
His work deals with themes such as Genetic testing, Sanger sequencing, Allele and Genotype, which intersect with Retinitis pigmentosa.
His studies in Disease gene identification integrate themes in fields like Joubert syndrome, Achromatopsia, Nonsense mutation, GNAT2 and Candidate gene.
Robert K. Koenekoop combines subjects such as RPE65 and Retinal Dystrophies with his study of CRB1.
His Retinal degeneration research focuses on subjects like Proband, which are linked to Human genetics.
His most cited work include:
- Leber congenital amaurosis: genes, proteins and disease mechanisms. (567 citations)
- Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis (483 citations)
- Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling (268 citations)
What are the main themes of his work throughout his whole career to date?
Robert K. Koenekoop focuses on Genetics, Retinitis pigmentosa, Retinal, Ophthalmology and Gene.
Phenotype, Mutation, Retinal degeneration, Disease gene identification and Exome sequencing are among the areas of Genetics where the researcher is concentrating his efforts.
He has included themes like Consanguinity and Allele in his Mutation study.
His study in Retinitis pigmentosa focuses on CRB1 in particular.
His Retinal research incorporates elements of Retina, Disease and Cell biology.
His work in RPE65 covers topics such as Internal medicine which are related to areas like Endocrinology and Oncology.
He most often published in these fields:
- Genetics (54.64%)
- Retinitis pigmentosa (23.93%)
- Retinal (17.86%)
What were the highlights of his more recent work (between 2013-2021)?
- Genetics (54.64%)
- Retinal (17.86%)
- Retinitis pigmentosa (23.93%)
In recent papers he was focusing on the following fields of study:
His main research concerns Genetics, Retinal, Retinitis pigmentosa, Gene and Ophthalmology.
His study involves Phenotype, Mutation, Exome sequencing, Proband and Retinal degeneration, a branch of Genetics.
In his research on the topic of Mutation, Genotype, Bioinformatics and Mutant is strongly related with Allele.
The study incorporates disciplines such as Genetic heterogeneity and Genotyping in addition to Exome sequencing.
While the research belongs to areas of Retinal, Robert K. Koenekoop spends his time largely on the problem of Disease, intersecting his research to questions surrounding Exon.
His biological study spans a wide range of topics, including Founder effect, Exome, Electroretinography and Mutation.
Between 2013 and 2021, his most popular works were:
- Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care. (213 citations)
- Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements (155 citations)
- Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia (123 citations)
In his most recent research, the most cited papers focused on:
His primary scientific interests are in Genetics, Retinitis pigmentosa, Retinal degeneration, Exome sequencing and Gene.
His work in Mutation, Allele, Proband, Disease gene identification and Phenotype is related to Genetics.
His Allele study incorporates themes from Disease and Genotype.
He is conducting research in Retina and Retinal as part of his Retinal degeneration study.
His Retinal research is multidisciplinary, incorporating elements of Photophobia and Visual acuity.
His Exome sequencing study combines topics from a wide range of disciplines, such as Mutation, splice, Minigene, Genetic heterogeneity and In silico.
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