What is he best known for?
The fields of study he is best known for:
Yoichi Matsubara spends much of his time researching Genetics, Internal medicine, Mutation, Endocrinology and HRAS.
His Genetics study typically links adjacent topics like Cell biology.
The various areas that Yoichi Matsubara examines in his Internal medicine study include Gastroenterology and Genotype.
He has included themes like Hypotonia, Short stature and Exon in his Mutation study.
His HRAS research is multidisciplinary, incorporating perspectives in Noonan syndrome, Cardiofaciocutaneous syndrome, PTPN11 and Costello syndrome.
His research investigates the link between Costello syndrome and topics such as Noonan Syndrome with Multiple Lentigines that cross with problems in Legius syndrome.
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)
- A genome-wide association study identifies RNF213 as the first Moyamoya disease gene (354 citations)
What are the main themes of his work throughout his whole career to date?
Yoichi Matsubara focuses on Genetics, Mutation, Internal medicine, Molecular biology and Endocrinology.
His studies deal with areas such as Phenotype, Cancer research, Methylmalonic acidemia and Pathology as well as Mutation.
His Internal medicine study combines topics from a wide range of disciplines, such as Gastroenterology, Glycine cleavage system, Glycine encephalopathy and PTPN11.
Yoichi Matsubara works mostly in the field of Molecular biology, limiting it down to concerns involving Polymerase chain reaction and, occasionally, Mutation.
His Endocrinology research incorporates elements of Hyperglycinemia, Phenylalanine, Costello syndrome and HRAS.
His HRAS research is multidisciplinary, relying on both RASopathy and Noonan Syndrome with Multiple Lentigines.
He most often published in these fields:
- Genetics (43.59%)
- Mutation (23.08%)
- Internal medicine (21.79%)
What were the highlights of his more recent work (between 2013-2021)?
- Genetics (43.59%)
- Internal medicine (21.79%)
- Mutation (23.08%)
In recent papers he was focusing on the following fields of study:
His primary scientific interests are in Genetics, Internal medicine, Mutation, Endocrinology and Gene.
His study in Exome sequencing, Missense mutation, Exon, Phenotype and Exome falls under the purview of Genetics.
His studies in Missense mutation integrate themes in fields like SOX9 and Frameshift mutation.
In his research, Adverse effect is intimately related to Gastroenterology, which falls under the overarching field of Internal medicine.
He works mostly in the field of Mutation, limiting it down to topics relating to Cancer research and, in certain cases, Fusion gene and Pathogenesis, as a part of the same area of interest.
His research in Endocrinology intersects with topics in Hypotonia and Proband.
Between 2013 and 2021, his most popular works were:
- Human genetic variation database, a reference database of genetic variations in the Japanese population (178 citations)
- Recent advances in RASopathies. (175 citations)
- ZNF384-related fusion genes define a subgroup of childhood B-cell precursor acute lymphoblastic leukemia with a characteristic immunotype (70 citations)
In his most recent research, the most cited papers focused on:
His primary areas of study are Genetics, Mutation, Internal medicine, Gene and Missense mutation.
Genetics is closely attributed to Short stature in his work.
He works in the field of Mutation, focusing on RASopathy in particular.
His Internal medicine research includes themes of Endocrinology and Chromosome 20.
His Missense mutation study combines topics from a wide range of disciplines, such as Hypotonia, Molecular biology, Mutant and Hypertelorism.
As part of the same scientific family, he usually focuses on Noonan syndrome, concentrating on Costello syndrome and intersecting with Proband, Hypoketotic hypoglycemia, Legius syndrome and HRAS.
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