What is he best known for?
The fields of study he is best known for:
His main research concerns Genetics, Mutation, Missense mutation, Gene and CLN8.
His study in Locus, Genetic heterogeneity, Positional cloning, Progressive myoclonus epilepsy and Frameshift mutation are all subfields of Genetics.
Anna-Elina Lehesjoki has included themes like Ataxia and Cystatin B in his Progressive myoclonus epilepsy study.
Anna-Elina Lehesjoki studies Exome, a branch of Mutation.
His Missense mutation research incorporates themes from Exome sequencing, Compound heterozygosity, Point mutation and Epilepsy.
His biological study spans a wide range of topics, including Myopathy, Cerebellar ataxia, Marinesco–Sjögren syndrome and Protein folding.
His most cited work include:
- Mutations in the Gene Encoding Cystatin B in Progressive Myoclonus Epilepsy (EPM1) (452 citations)
- Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis. (284 citations)
- Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes (269 citations)
What are the main themes of his work throughout his whole career to date?
Anna-Elina Lehesjoki mostly deals with Genetics, Progressive myoclonus epilepsy, Epilepsy, Pathology and Cystatin B.
His studies in Gene, Missense mutation, Mutation, Locus and Genetic linkage are all subfields of Genetics research.
His Missense mutation research includes elements of Exome sequencing, Compound heterozygosity and Frameshift mutation.
The study of Progressive myoclonus epilepsy is intertwined with the study of Endocrinology in a number of ways.
His research in Epilepsy intersects with topics in Phenotype, Pediatrics, Bioinformatics and Cohort.
He focuses mostly in the field of Cystatin B, narrowing it down to matters related to Neurodegeneration and, in some cases, Gliosis.
He most often published in these fields:
- Genetics (43.40%)
- Progressive myoclonus epilepsy (25.00%)
- Epilepsy (18.87%)
What were the highlights of his more recent work (between 2013-2021)?
- Genetics (43.40%)
- Epilepsy (18.87%)
- Progressive myoclonus epilepsy (25.00%)
In recent papers he was focusing on the following fields of study:
The scientist’s investigation covers issues in Genetics, Epilepsy, Progressive myoclonus epilepsy, Exome sequencing and Missense mutation.
His study deals with a combination of Genetics and NEU1.
Anna-Elina Lehesjoki combines subjects such as Pediatrics, Cohort and Bioinformatics with his study of Epilepsy.
His work carried out in the field of Progressive myoclonus epilepsy brings together such families of science as Ataxia and Cystatin B.
The various areas that he examines in his Cystatin B study include Endocrinology, Neurodegeneration, Microglia, Internal medicine and Cell biology.
Anna-Elina Lehesjoki interconnects Molecular biology and Compound heterozygosity in the investigation of issues within Missense mutation.
Between 2013 and 2021, his most popular works were:
- A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy (161 citations)
- De novo loss-or gain-of-function mutations in KCNA2 cause epileptic encephalopathy (155 citations)
- Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies (140 citations)
In his most recent research, the most cited papers focused on:
Anna-Elina Lehesjoki focuses on Epilepsy, Genetics, Exome sequencing, Bioinformatics and Exome.
His Epilepsy study combines topics from a wide range of disciplines, such as Ataxia, Pediatrics and Cohort.
His research on Genetics frequently links to adjacent areas such as Dravet syndrome.
In Exome sequencing, Anna-Elina Lehesjoki works on issues like Missense mutation, which are connected to Point mutation and Compound heterozygosity.
His study in Bioinformatics is interdisciplinary in nature, drawing from both Mutation, Polymicrogyria and Intellectual disability.
His Mutation study combines topics in areas such as Internal medicine and Endocrinology.
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