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Tohru Ohta | Researchclopedia

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Tohru Ohta

Health Sciences University of Hokkaido ORCID

210

Works

8,652

Citations

45

h-index

94

i10-index

Research Topics

Genetic Syndromes and Imprinting Genomic variations and chromosomal abnormalities Epigenetics and DNA Methylation

Affiliations

Kanazawa University1996–2000

NSK (United States)1991–1992

Northwestern University1999–1999

Kansai Medical University1992–1992

Lawrence Livermore National Laboratory1999–1999

Top Works

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

Sarah Ng,Abigail W. Bigham,et al.

20101,346 citations

Geological and Geochemical Analysis

Hydrocarbon exploration and reservoir analysis

Haploinsufficiency of NSD1 causes Sotos syndrome

Naohiro Kurotaki,Kiyoshi Imaizumi,et al.

2002655 citations

Heterozygous TGFBR2 mutations in Marfan syndrome

Takeshi Mizuguchi,Gwenaëlle Collod‐Béroud,et al.

2004613 citations

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

Yoshinori Tsurusaki,Nobuhiko Okamoto,et al.

2012519 citations

Statistical empirical index of chemical weathering in igneous rocks: A new tool for evaluating the degree of weathering

Tohru Ohta,Hiroyoshi Arai

2007363 citations

A SNP in the ABCC11 gene is the determinant of human earwax type

Koh-ichiro Yoshiura,Akira Kinoshita,et al.

2006294 citations

Imprinting-Mutation Mechanisms in Prader-Willi Syndrome

Tohru Ohta,Todd A. Gray,et al.

1999276 citations

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,et al.

2003222 citations

Spectrum of <i>MLL2</i> (<i>ALR</i>) mutations in 110 cases of Kabuki syndrome

Mark Hannibal,Kati J. Buckingham,et al.

2011194 citations