What is he best known for?
The fields of study he is best known for:
Hirofumi Ohashi spends much of his time researching Genetics, Mutation, Missense mutation, Frameshift mutation and Haploinsufficiency.
His studies in Point mutation, Noonan Syndrome with Multiple Lentigines, Allele, Intellectual disability and HRAS are all subfields of Genetics research.
The study incorporates disciplines such as Kabuki syndrome, Mutant, X chromosome and Human genetics in addition to Mutation.
He works mostly in the field of Missense mutation, limiting it down to topics relating to Spondyloepiphyseal dysplasia and, in certain cases, Kniest dysplasia, Phenotype and Exon, as a part of the same area of interest.
The concepts of his Frameshift mutation study are interwoven with issues in Beckwith–Wiedemann syndrome and Gigantism.
His Haploinsufficiency research is multidisciplinary, incorporating elements of Sotos syndrome, Genotype, Overgrowth syndrome and Breakpoint.
His most cited work include:
- Germline mutations in HRAS proto-oncogene cause Costello syndrome (524 citations)
- Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome (467 citations)
- Haploinsufficiency of NSD1 causes Sotos syndrome (448 citations)
What are the main themes of his work throughout his whole career to date?
Hirofumi Ohashi mainly focuses on Genetics, Mutation, Internal medicine, Molecular biology and Gene.
His Genetics study is mostly concerned with Exon, Missense mutation, Dysplasia, Gene duplication and Fluorescence in situ hybridization.
His study explores the link between Fluorescence in situ hybridization and topics such as Karyotype that cross with problems in Chromosomal translocation.
His research in Chromosomal translocation intersects with topics in Chromosome and Dysostosis.
The study incorporates disciplines such as Multiple epiphyseal dysplasia and Pathology in addition to Mutation.
His work investigates the relationship between Internal medicine and topics such as Endocrinology that intersect with problems in Costello syndrome.
He most often published in these fields:
- Genetics (53.00%)
- Mutation (19.50%)
- Internal medicine (13.50%)
What were the highlights of his more recent work (between 2013-2021)?
- Genetics (53.00%)
- Telescope (3.50%)
- Observatory (3.00%)
In recent papers he was focusing on the following fields of study:
Hirofumi Ohashi spends much of his time researching Genetics, Telescope, Observatory, Optics and Mutation.
His research in Gene duplication, Proband, Coffin–Siris syndrome, Exome and Genome-wide association study are components of Genetics.
His research in Exome intersects with topics in Cardiofaciocutaneous syndrome, Genetic heterogeneity, Penetrance, Haplotype and Costello syndrome.
His studies in Costello syndrome integrate themes in fields like Noonan syndrome and Compound heterozygosity.
His work deals with themes such as Detector and Near-infrared spectroscopy, which intersect with Observatory.
He interconnects Cultured skin, DNA methylation and Pathology in the investigation of issues within Mutation.
Between 2013 and 2021, his most popular works were:
- De novo SOX11 mutations cause Coffin–Siris syndrome (82 citations)
- Spectrum of mutations and genotype–phenotype analysis in Noonan syndrome patients with RIT1 mutations (50 citations)
- Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation. (44 citations)
In his most recent research, the most cited papers focused on:
His scientific interests lie mostly in Genetics, Mutation, Compound heterozygosity, Dysplasia and Cell biology.
His Genetics and Noonan syndrome, Allele, Regulation of gene expression, Genomic imprinting and Genetic disorder investigations all form part of his Genetics research activities.
His study in Noonan syndrome is interdisciplinary in nature, drawing from both Cardiofaciocutaneous syndrome, Costello syndrome, Short stature, MAPK/ERK pathway and PTPN11.
His Mutation research focuses on Pathology and how it connects with Lineage, Atrial septal defects, RASopathy, Hypertrophic cardiomyopathy and KRAS.
The various areas that he examines in his Compound heterozygosity study include Exome sequencing, Exome, Colony stimulating factor 1 receptor and Proband.
His biological study spans a wide range of topics, including Gene duplication, Fluorescence in situ hybridization, Leukoencephalopathy and Candidate gene.
This overview was generated by a machine learning system which analysed the scientist’s
body of work. If you have any feedback, you can
contact us
here.
