What is he best known for?
The fields of study he is best known for:
Hirotomo Saitsu spends much of his time researching Genetics, Mutation, Missense mutation, Exome sequencing and Molecular biology.
His Genetics study focuses mostly on Hypotonia, Frameshift mutation, Compound heterozygosity, Gene and Nonsense mutation.
His work carried out in the field of Mutation brings together such families of science as Protein subunit, Nuclear gene, Genetic linkage and Epilepsy.
Hirotomo Saitsu interconnects Cerebral degeneration, Ohtahara syndrome, Mutant protein and Porencephaly in the investigation of issues within Missense mutation.
His Exome sequencing study combines topics in areas such as Neurodevelopmental disorder, Human genetics, Premovement neuronal activity and Pathology.
His studies in Molecular biology integrate themes in fields like Methylation, Mutant, Microcephaly, Germ cell and Cell biology.
His most cited work include:
- De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy (398 citations)
- Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome (337 citations)
- De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood (309 citations)
What are the main themes of his work throughout his whole career to date?
His scientific interests lie mostly in Genetics, Exome sequencing, Pathology, Mutation and Missense mutation.
His work in Gene, Frameshift mutation, Intellectual disability, Exome and Phenotype is related to Genetics.
The various areas that Hirotomo Saitsu examines in his Intellectual disability study include Pediatrics and Epilepsy.
His Exome sequencing research includes themes of Hypotonia, Genetic heterogeneity, Mutation and Bioinformatics.
His research in Pathology intersects with topics in Cerebellum and Cerebellar ataxia.
In Mutation, Hirotomo Saitsu works on issues like Molecular biology, which are connected to Mutant.
He most often published in these fields:
- Genetics (53.13%)
- Exome sequencing (26.56%)
- Pathology (20.57%)
What were the highlights of his more recent work (between 2018-2021)?
- Genetics (53.13%)
- Exome sequencing (26.56%)
- Epilepsy (16.93%)
In recent papers he was focusing on the following fields of study:
Genetics, Exome sequencing, Epilepsy, Missense mutation and Phenotype are his primary areas of study.
His is doing research in Gene, Exome, Allele, Exon and Frameshift mutation, both of which are found in Genetics.
His Exome sequencing study is focused on Mutation in general.
His Epilepsy research is multidisciplinary, incorporating perspectives in Ventricular tachycardia, Pediatrics and Intellectual disability.
His Missense mutation research includes elements of Neurodevelopmental disorder and Mutant.
Hirotomo Saitsu combines subjects such as Pyruvate dehydrogenase deficiency, Abnormality and Chromosomal translocation with his study of Phenotype.
Between 2018 and 2021, his most popular works were:
- A genome-wide DNA methylation signature for SETD1B-related syndrome. (16 citations)
- Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures. (15 citations)
- Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing. (12 citations)
In his most recent research, the most cited papers focused on:
His primary areas of investigation include Genetics, Exome sequencing, Gene, Epilepsy and Missense mutation.
His Allele, Exon and Frameshift mutation study, which is part of a larger body of work in Genetics, is frequently linked to Cullin and CRL complex, bridging the gap between disciplines.
Hirotomo Saitsu is conducting research in Mutation and Phenotype as part of his Exome sequencing study.
His Gene research integrates issues from Semaphorin and Abnormality.
Hirotomo Saitsu usually deals with Epilepsy and limits it to topics linked to Autism spectrum disorder and Intellectual disability, Myoclonic Jerk, Myoclonic absences and Ictal.
His study in Missense mutation is interdisciplinary in nature, drawing from both Ubiquitin, Protein degradation, Mutant, Leukodystrophy and Alu element.
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