Keiko Yamamoto‐Shimojima

Author

Tokyo Women's Medical University

Also Known As

KEIKO YAMAMOTO-SHIMOJIMA, Keiko Yamamoto-Shimojima, Keiko Yamamoto‐Shimojima, Tomoe Yanagishita

Publications

240

Citations

H-Index

Concepts

All Affiliations

Tokyo Women's Medical University St. Marianna University School of Medicine Japan Society for the Promotion of Science Osaka Women's and Children's Hospital National Center of Neurology and Psychiatry

About

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

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	5	5	118
2	Neurology	2	2	77
3	Natural Sciences	1	1	12
4	Social Sciences	1	1	17
5	Molecular Biology	1	1	12

Keiko Yamamoto‐Shimojima

Publications

162

Citations

H-Index

Page 1

	Year	Citations
Genomic backgrounds of Japanese patients with undiagnosed neurodevelopmental disorders Toshiyuki Yamamoto, Taichi Imaizumi, Keiko Yamamoto‐Shimojima, Brain and Development Neurodevelopmental DisordersGenetic DisorderGeneticsGenomic BackgroundsNeurology	2019	60
Elucidation of the pathogenic mechanism and potential treatment strategy for a female patient with spastic paraplegia derived from a single-nucleotide deletion in PLP1 Keiko Yamamoto‐Shimojima, Taichi Imaizumi, Yusuke Aoki, Journal of Human Genetics PathogenesisSpastic ParaplegiaPotential Treatment StrategyPathologyFemale Patient	2019	18
An episode of acute encephalopathy with biphasic seizures and late reduced diffusion followed by hemiplegia and intractable epilepsy observed in a patient with a novel frameshift mutation in HNRNPU Shino Shimada, Hirokazu Oguni, Yui Otani, Brain and Development Neurobiology Of DiseaseNeurological DisorderGenetic DisorderIntractable EpilepsySocial Sciences	2018	17
Primrose syndrome associated with unclassified immunodeficiency and a novel <i>ZBTB20</i> mutation Keiko Yamamoto‐Shimojima, Taichi Imaizumi, Hiroyuki Akagawa, American Journal of Medical Genetics Part A	2019	12
Analyses of breakpoint junctions of complex genomic rearrangements comprising multiple consecutive microdeletions by nanopore sequencing Taichi Imaizumi, Keiko Yamamoto‐Shimojima, Tomoe Yanagishita, Journal of Human Genetics Long-read SequencingBreakpoint JunctionsNatural SciencesGeneticsMultiple Consecutive Microdeletions	2020	12
Independent occurrence of de novo HSPD1 and HIP1 variants in brothers with different neurological disorders – leukodystrophy and autism Toshiyuki Yamamoto, Keiko Yamamoto‐Shimojima, Yuki Ueda, Human Genome Variation	2018	11
Identification of a rare homozygous <i>SZT2</i> variant due to uniparental disomy in a patient with a neurodevelopmental disorder Taichi Imaizumi, Akira Kumakura, Keiko Yamamoto‐Shimojima, Intractable & Rare Diseases Research	2018	11
Complex chromosomal rearrangements of human chromosome 21 in a patient manifesting clinical features partially overlapped with that of Down syndrome Taichi Imaizumi, Keiko Yamamoto‐Shimojima, Tomoe Yanagishita, Human Genetics Down SyndromeChromatinMendelian DisorderGenetic DisorderGenetics	2020	11
Advantages of ddPCR in detection of <i>PLP1</i> duplications Taichi Imaizumi, Keiko Yamamoto‐Shimojima, Toshiyuki Yamamoto Intractable & Rare Diseases Research	2019	10

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