D-Index & Metrics Best Publications

Yoshinori Tsurusaki

Sagami Women's University
Japan

D-Index & Metrics D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines.

Discipline name Citations Publications World Ranking National Ranking

Genetics D-index 56 Citations 8,877 181 World Ranking 2721 National Ranking 115

Overview

What is he best known for?

The fields of study Yoshinori Tsurusaki is best known for:

Gene
Mutation
SWI/SNF

Yoshinori Tsurusaki merges Gene with Genotype-phenotype distinction in his study. Yoshinori Tsurusaki integrates many fields in his works, including Genotype-phenotype distinction and Genotype. His Genotype study frequently links to other fields, such as Heterozygote advantage. Yoshinori Tsurusaki brings together Heterozygote advantage and Genetics to produce work in his papers. Many of his studies on Genetics apply to Nonsense as well. His research combines Gene and Nonsense. Borrowing concepts from Exome sequencing, Yoshinori Tsurusaki weaves in ideas under Mutation. Borrowing concepts from Mutation, Yoshinori Tsurusaki weaves in ideas under Exome sequencing. He performs integrative Missense mutation and Frameshift mutation research in his work.

His most cited work include:

Homozygous c.l4576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease (222 citations)
Coffin-Siris syndrome is a SWI/SNF complex disorder (103 citations)
De novo EEF1A2mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy (53 citations)

What are the main themes of his work throughout his whole career to date

His Genetics study frequently draws connections between adjacent fields such as Microcephaly. By researching both Microcephaly and Intellectual disability, he produces research that crosses academic boundaries. Intellectual disability is closely attributed to Genetics in his research. His work often combines Gene and Disease studies. He undertakes multidisciplinary studies into Disease and Gene in his work. He brings together Mutation and Molecular biology to produce work in his papers. In his research, Yoshinori Tsurusaki undertakes multidisciplinary study on Molecular biology and Mutation. His study deals with a combination of Exome sequencing and Exome. He combines Exome and Exome sequencing in his research.

Yoshinori Tsurusaki most often published in these fields:

Genetics (81.25%)
Gene (81.25%)
Mutation (62.50%)

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.

Best Publications

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.

Yoshinori Tsurusaki;Nobuhiko Okamoto;Hirofumi Ohashi;Tomoki Kosho.
Nature Genetics (2012)

470 Citations

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)

416 Citations

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.
Neurology (2012)

262 Citations

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)

244 Citations

Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.

Mitsuhiro Kato;Takanori Yamagata;Masaya Kubota;Hiroshi Arai.
Epilepsia (2013)

211 Citations

KDM6A point mutations cause Kabuki syndrome.

Noriko Miyake;Seiji Mizuno;Nobuhiko Okamoto;Hirofumi Ohashi.
Human Mutation (2013)

211 Citations

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome

Kazuyuki Nakamura;Mitsuhiro Kato;Hitoshi Osaka;Sumimasa Yamashita.
Neurology (2013)

202 Citations

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)

186 Citations

Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy

Gianina Ravenscroft;Satoko Miyatake;Vilma Lotta Lehtokari;Emily J. Todd.
American Journal of Human Genetics (2013)

182 Citations

MLL2 and KDM6A mutations in patients with Kabuki syndrome.

Noriko Miyake;Eriko Koshimizu;Nobuhiko Okamoto;Seiji Mizuno.
American Journal of Medical Genetics Part A (2013)

175 Citations

If you think any of the details on this page are incorrect, let us know.

Frequent Co-Authors

External Links

Personal Website for Yoshinori Tsurusaki