Keiko Shimojima - Concepedia

Author

Keiko Shimojima

Tokyo Women's Medical University

Also Known As

David Weaver, K Shimojima, K. Shimojima, Keiko Shimojima, Keiko Yamamoto Shimojima, Toshiyuki Yamamoto

151

Publications

3.2K

Citations

H-Index

Concepts

All Affiliations

Tokyo Women's Medical University Osaka International Cancer Institute Juntendo University National Epilepsy Center Tottori University

About

Keiko Shimojima is an author at Tokyo Women's Medical University specializing in medicine, genetics, and neuropathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	21	46	1.2K
2	Social Sciences	6	6	139
3	Education	1	1	39
4	Engineering	1	1	12
5	Public Health	1	1	35

Keiko Shimojima

Publications

2.8K

Citations

H-Index

Page 1

	Year	Citations
Homozygous c.14576G>A variant of <i>RNF213</i> predicts early-onset and severe form of moyamoya disease Satoko Miyatake, Noriko Miyake, Hajime Touho, Neurology	2012	300
Reduced expression by <i>SETBP1</i> haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel–Giedion syndrome Isabel Filges, Keiko Shimojima, Nobuhiko Okamoto, Journal of Medical Genetics	2010	123
<i>STXBP1</i> mutations cause not only Ohtahara syndrome but also West syndrome—Result of Japanese cohort study Motoko Otsuka, Hirokazu Oguni, Jao‐Shwann Liang, Epilepsia	2010	113
Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy Keiko Shimojima, Midori Sugawara, Minobu Shichiji, Journal of Human Genetics Loss-of-function MutationGenetic DisorderGeneticsX-linked Mental RetardationPsychiatric Genetics	2011	82
An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities Toshiyuki Yamamoto, Anna Wilsdon, Shelagh Joss, Journal of Human Genetics Xq22 MicrodeletionsGenetic DisorderMedicineGeneticsSevere Intellectual Disability	2014	73
CDKL5 alterations lead to early epileptic encephalopathy in both genders Jao‐Shwann Liang, Keiko Shimojima, Rumiko Takayama, Epilepsia	2011	69
Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications Shino Shimada, Keiko Shimojima, Nobuhiko Okamoto, Brain and Development ChromatinCritical Chromosomal RegionsDeletion Syndrome-related ComplicationsGene Deletion DataGenetic Disorder	2014	64
Interstitial Duplication of 2q32.1–q33.3 in a Patient With Epilepsy, Developmental Delay, and Autistic Behavior Daisuke Usui, Shino Shimada, Keiko Shimojima, American Journal of Medical Genetics Part A	2013	58
Clinical manifestations of Xq28 functional disomy involving <i>MECP2</i> in one female and two male patients Shino Shimada, Nobuhiko Okamoto, Kyoko Hirasawa, American Journal of Medical Genetics Part A	2013	55
MECP2 duplication syndrome in both genders Shino Shimada, Nobuhiko Okamoto, Masahiro Ito, Brain and Development InfertilityMendelian DisorderGenetic DisorderGeneticsMecp2 Duplication Syndrome	2012	53

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