What is he best known for?
The fields of study he is best known for:
His primary areas of study are Genetics, Exome, Internal medicine, Exome sequencing and Genetic association.
All of his Genetics and Allele, Gene, Genetic testing, Bardet–Biedl syndrome and Sensenbrenner syndrome investigations are sub-components of the entire Genetics study.
Per M. Knappskog studied Gene and Molecular biology that intersect with Biochemistry, Enzyme and Microcephaly.
His studies deal with areas such as Genome-wide association study, Cilium, Molecular diagnostics and Sanger sequencing, DNA sequencing as well as Exome.
Per M. Knappskog has included themes like Ataxia, Endocrinology and Exon in his Internal medicine study.
The Exome sequencing study combines topics in areas such as Ciliopathies and Encephalopathy.
His most cited work include:
- A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication (189 citations)
- Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19 (172 citations)
- Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19 (172 citations)
What are the main themes of his work throughout his whole career to date?
Per M. Knappskog mainly focuses on Genetics, Molecular biology, Pathology, Internal medicine and Gene.
His Genetics study is mostly concerned with Allele, Exome sequencing, Mutation, Single-nucleotide polymorphism and Exome.
The concepts of his Exome sequencing study are interwoven with issues in Sanger sequencing, Ataxia and Frameshift mutation.
His Molecular biology research includes themes of Biochemistry, Enzyme, Phenylalanine hydroxylase, Spinocerebellar ataxia and Polymerase chain reaction.
His work on Dystrophy as part of his general Pathology study is frequently connected to Congenital stromal corneal dystrophy, thereby bridging the divide between different branches of science.
His biological study spans a wide range of topics, including Endocrinology, Immunology and Oncology.
He most often published in these fields:
- Genetics (60.92%)
- Molecular biology (25.63%)
- Pathology (26.47%)
What were the highlights of his more recent work (between 2016-2021)?
- Genetics (60.92%)
- Molecular biology (25.63%)
- Gene (22.69%)
In recent papers he was focusing on the following fields of study:
Genetics, Molecular biology, Gene, Exome sequencing and Genome-wide association study are his primary areas of study.
His Genetics study focuses mostly on Penetrance, Exon, Copy-number variation, Cilium and Nephronophthisis.
Per M. Knappskog interconnects Heat shock protein, Protein aggregation, Polymerase chain reaction and Protein folding in the investigation of issues within Molecular biology.
His Gene research is multidisciplinary, incorporating perspectives in Parkinson's disease and Autoimmune regulator.
The study incorporates disciplines such as Ataxia, Neurodegeneration, Mitochondrial DNA and Pathology in addition to Exome sequencing.
His Autoimmune polyendocrine syndrome type 1 research is multidisciplinary, relying on both Autoantibody and Endocrinology.
Between 2016 and 2021, his most popular works were:
- Expanding the Phenotypic and Genotypic Landscape of Autoimmune Polyendocrine Syndrome Type 1. (37 citations)
- BRCA testing by single-molecule molecular inversion probes (30 citations)
- Rare genetic variation in mitochondrial pathways influences the risk for Parkinson's disease. (23 citations)
In his most recent research, the most cited papers focused on:
His primary scientific interests are in Genetics, Gene, Neurodegeneration, Molecular biology and WDR45.
Phenotype, Nephronophthisis, Fibroblast, Polymerase chain reaction and Genetic variation are subfields of Genetics in which his conducts study.
As part of his studies on Gene, Per M. Knappskog often connects relevant areas like Cilium.
His Neurodegeneration research integrates issues from Exome sequencing, Mitochondrial DNA, Mitochondrial DNA replication, Nonsynonymous substitution and Parkinson's disease.
His studies in Molecular biology integrate themes in fields like Stargardt disease, Exon, Messenger RNA, ABCA4 and splice.
His research integrates issues of Neurology, Highly variable phenotype, Bioinformatics and Beta-propeller in his study of WDR45.
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