What is he best known for?
The fields of study he is best known for:
Lisenka E.L.M. Vissers mainly investigates Genetics, Gene, Exome sequencing, Genetic heterogeneity and Mutation.
Lisenka E.L.M. Vissers regularly links together related areas like Autism in his Genetics studies.
His Exome sequencing research focuses on SYNGAP1 and how it connects with Mutation, Point mutation, Mutation rate and Developmental disorder.
His Genetic heterogeneity research focuses on DNA sequencing and how it relates to MEDLINE, DNA Mutational Analysis, Computational biology, Compound heterozygosity and Genetic variation.
His work carried out in the field of Mutation brings together such families of science as CHARGE syndrome and Zebrafish.
The study incorporates disciplines such as Human genome and Human genetics in addition to Copy-number variation.
His most cited work include:
- Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. (920 citations)
- Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability (905 citations)
- Genome sequencing identifies major causes of severe intellectual disability (738 citations)
What are the main themes of his work throughout his whole career to date?
His primary scientific interests are in Genetics, Mutation, Gene, Exome sequencing and Intellectual disability.
His work on Genetics deals in particular with Phenotype, Missense mutation, Candidate gene, Exome and Haploinsufficiency.
His Mutation research includes themes of Molecular biology, Internal medicine and Allele.
While the research belongs to areas of Gene, Lisenka E.L.M. Vissers spends his time largely on the problem of Hypotonia, intersecting his research to questions surrounding Microdeletion syndrome and 17q21.31 microdeletion syndrome.
His Exome sequencing research is multidisciplinary, incorporating elements of Sanger sequencing, Genetic heterogeneity, Genetic testing and Copy-number variation.
He has researched Intellectual disability in several fields, including Bioinformatics, Autism, Autism spectrum disorder, Computational biology and Human genetics.
He most often published in these fields:
- Genetics (75.91%)
- Mutation (27.01%)
- Gene (26.28%)
What were the highlights of his more recent work (between 2018-2021)?
- Genetics (75.91%)
- Intellectual disability (23.36%)
- Gene (26.28%)
In recent papers he was focusing on the following fields of study:
The scientist’s investigation covers issues in Genetics, Intellectual disability, Gene, Missense mutation and Haploinsufficiency.
Phenotype, Neurodevelopmental disorder, Hypotonia, Mutation and SATB1 are subfields of Genetics in which his conducts study.
His research in Intellectual disability intersects with topics in De novo mutations and Human genetics.
His work on Mendelian inheritance, Genetic variation, Interactome and Interaction network as part of general Gene research is often related to Protein network, thus linking different fields of science.
He works mostly in the field of Frameshift mutation, limiting it down to concerns involving Sanger sequencing and, occasionally, Exome sequencing.
The Copy-number variation study combines topics in areas such as Exome and Candidate gene.
Between 2018 and 2021, his most popular works were:
- A systematic review and standardized clinical validity assessment of male infertility genes (50 citations)
- 1 in 38 individuals at risk of a dominant medically actionable disease (25 citations)
- De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders. (11 citations)
In his most recent research, the most cited papers focused on:
Genetics, Missense mutation, Intellectual disability, Frameshift mutation and Haploinsufficiency are his primary areas of study.
His work is connected to Gene, Proband, Exome sequencing and Copy-number variation, as a part of Genetics.
He works mostly in the field of Missense mutation, limiting it down to topics relating to Hypotonia and, in certain cases, Nonsense, Autism spectrum disorder, DNA sequencing, Nonsense mutation and Protein subunit, as a part of the same area of interest.
His Intellectual disability study combines topics in areas such as Computational biology, Craniofacial and Exon.
The various areas that Lisenka E.L.M. Vissers examines in his Frameshift mutation study include Sanger sequencing, Exome, Gene mutation and Candidate gene.
His Haploinsufficiency study integrates concerns from other disciplines, such as DYRK1A, Gene expression and Gene knockdown.
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