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 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.
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.
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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De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy
Hirotomo Saitsu;Mitsuhiro Kato;Takeshi Mizuguchi;Keisuke Hamada.
Nature Genetics (2008)
Correction: Corrigendum: Ultra–sensitive droplet digital PCR for detecting a low–prevalence somatic GNAQ mutation in Sturge–Weber syndrome
Yuri Uchiyama;Mitsuko Nakashima;Satoshi Watanabe;Masakazu Miyajima.
Scientific Reports (2017)
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.
Yoshinori Tsurusaki;Nobuhiko Okamoto;Hirofumi Ohashi;Tomoki Kosho.
Nature Genetics (2012)
De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood
Hirotomo Saitsu;Taki Nishimura;Taki Nishimura;Kazuhiro Muramatsu;Hirofumi Kodera.
Nature Genetics (2013)
Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease.
S. Miyatake;N. Miyake;H. Touho;A. Nishimura-Tadaki.
Human genetic variation database, a reference database of genetic variations in the Japanese population.
Koichiro Higasa;Noriko Miyake;Jun Yoshimura;Kohji Okamura.
Journal of Human Genetics (2016)
Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.
Mitsuhiro Kato;Takanori Yamagata;Masaya Kubota;Hiroshi Arai.
KDM6A point mutations cause Kabuki syndrome.
Noriko Miyake;Seiji Mizuno;Nobuhiko Okamoto;Hirofumi Ohashi.
Human Mutation (2013)
Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome
Kazuyuki Nakamura;Mitsuhiro Kato;Hitoshi Osaka;Sumimasa Yamashita.
De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy
Kazuyuki Nakamura;Kazuyuki Nakamura;Hirofumi Kodera;Tenpei Akita;Masaaki Shiina.
American Journal of Human Genetics (2013)
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