Concepedia
Statistics
Publications
9
Citations
1K
H-Index
Active since
2008
Affiliations
Tohoku University(Current)
Chiba University
Martin Luther University Halle-Wittenberg
University Hospital Heidelberg
University College London
Shoko Komatsuzaki is an author at Tohoku University specializing in life sciences, genetic disorders, and genetics.
Publications per year
2008–2020
A genome-wide association study identifies RNF213 as the first Moyamoya disease gene
Fumiaki Kamada, Yoko Aoki, Ayumi Narisawa et al. · Journal of Human Genetics · 2010 · 751 citations
Life Sciences, Genetics, Molecular Genetics +9
Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans
Ayumi Narisawa, Shoko Komatsuzaki, Atsuo Kikuchi et al. · Human Molecular Genetics · 2011 · 120 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies
Shoko Komatsuzaki, Yoko Aoki, Tetsuya Niihori et al. · Journal of Human Genetics · 2010 · 58 citations
Life Sciences, Genetics, Hematology +12
Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence
Edith Bonnin, Pauline Cabochette, Alessandro Filosa et al. · PLoS Genetics · 2018 · 33 citations · Full text
Life Sciences, Genetics, Molecular Genetics +16
Multifactorial modulation of susceptibility to l-lysine in an animal model of glutaric aciduria type I
Sven W. Sauer, Silvana Opp, Shoko Komatsuzaki et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 2015 · 21 citations
Life Sciences, Biochemistry, Physiology +10
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