Tohru Ohta - Concepedia

Author

Tohru Ohta

Nagasaki University ORCID

Also Known As

Fagan, T. J., Junko Akashi, T Ohta, T. OHTA, T. Ohta, TOHRU OHTA, Tohru OHTA, Tohru Ohta, Tomomi OHTA, Toru Ohta

210

Publications

8.6K

Citations

H-Index

151

Concepts

All Affiliations

Nagasaki University Japan Science and Technology Agency Health Sciences University of Hokkaido Nagasaki Medical Center Waseda University

About

Tohru Ohta is an author at Nagasaki University specializing in medicine, genetics, and molecular genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	30	47	5.8K
2	Engineering	12	12	2.1K
3	Arts	1	1	38
4	Health Sciences	1	1	129
5	Language Studies	1	1	29

Tohru Ohta

Publications

8.1K

Citations

H-Index

Page 1

	Year	Citations
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome Sarah Ng, Abigail W. Bigham, Kati J. Buckingham, Nature Genetics EngineeringMendelian DisorderIdentifies Mll2 MutationsMedicineGenetics	2010	1.3K
Haploinsufficiency of NSD1 causes Sotos syndrome Naohiro Kurotaki, Kiyoshi Imaizumi, Naoki Harada, Nature Genetics Clinical DisordersSotos SyndromeNeurological DisorderGenetic DisorderPathology	2002	655
Heterozygous TGFBR2 mutations in Marfan syndrome Takeshi Mizuguchi, Gwenaëlle Collod‐Béroud, Takushi Akiyama, Nature Genetics Marfan SyndromeMendelian DisorderGenetic DisorderGeneticsMolecular Genetics	2004	612
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome Yoshinori Tsurusaki, Nobuhiko Okamoto, Hirofumi Ohashi, Nature Genetics Mendelian DisorderTranslational BiologyDisease MechanismGenetic DisorderGenetics	2012	515
Statistical empirical index of chemical weathering in igneous rocks: A new tool for evaluating the degree of weathering Tohru Ohta, Hiroyoshi Arai Chemical Geology GeophysicsMeteorologyIgneous RocksEngineeringGeography	2007	360
A SNP in the ABCC11 gene is the determinant of human earwax type Koh-ichiro Yoshiura, Akira Kinoshita, Takafumi Ishida, Nature Genetics Allelic VariantGenetic DisorderNatural SciencesGeneticsMolecular Biology	2006	292
Imprinting-Mutation Mechanisms in Prader-Willi Syndrome Tohru Ohta, Todd A. Gray, Peter K. Rogan, The American Journal of Human Genetics Developmental BiologyGenetic DisorderGeneticsMolecular GeneticsImprinting-mutation Mechanisms	1999	276
Identification of Four Highly Conserved Genes between Breakpoint Hotspots BP1 and BP2 of the Prader-Willi/Angelman Syndromes Deletion Region That Have Undergone Evolutionary Transposition Mediated by Flanking Duplicons J-H. Chai, Devin P. Locke, John M. Greally, The American Journal of Human Genetics Developmental BiologyGenetic DisorderGeneticsGenetic MechanismMolecular Genetics	2003	222
Spectrum of <i>MLL2</i> (<i>ALR</i>) mutations in 110 cases of Kabuki syndrome Mark Hannibal, Kati J. Buckingham, Sarah Ng, American Journal of Medical Genetics Part A	2011	192
<i>MLL2</i> and <i>KDM6A</i> mutations in patients with Kabuki syndrome Noriko Miyake, Eriko Koshimizu, Nobuhiko Okamoto, American Journal of Medical Genetics Part A	2013	174

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