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Keiko Yamamoto Shimojima

Observed names: K Shimojima, K. Shimojima, Keiko Shimojima, 下島 圭子
OpenAlex ID: A5022760465
STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome—Result of Japanese cohort study
2010 · Motoko Otsuka, Hirokazu Oguni, et al. · Epilepsia · 117
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Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel–Giedion syndrome
2010 · Isabel Filges, Keiko Shimojima, et al. · Journal of Medical Genetics · 101
Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy
2011 · Keiko Shimojima, Midori Sugawara, et al. · Journal of Human Genetics · 87
An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities
2014 · Toshiyuki Yamamoto, Anna Wilsdon, et al. · Journal of Human Genetics · 75
CDKL5 alterations lead to early epileptic encephalopathy in both genders
2011 · Jao-Shwann Liang, Keiko Shimojima, et al. · Epilepsia · 69
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Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications
2014 · Shino Shimada, Keiko Shimojima, et al. · Brain and Development · 67
MECP2 duplication syndrome in both genders
2012 · Shino Shimada, Nobuhiko Okamoto, et al. · Brain and Development · 60
Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6
2010 · Toshiyuki Yamamoto, Keiko Shimojima, et al. · American Journal of Medical Genetics Part A · 60
Interstitial Duplication of 2q32.1–q33.3 in a Patient With Epilepsy, Developmental Delay, and Autistic Behavior
2013 · Daisuke Usui, Shino Shimada, et al. · American Journal of Medical Genetics Part A · 58
Clinical manifestations of Xq28 functional disomy involving MECP2 in one female and two male patients
2013 · Shino Shimada, Nobuhiko Okamoto, et al. · American Journal of Medical Genetics Part A · 56
A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination
2011 · Keiko Shimojima, Bertrand Isidor, et al. · American Journal of Medical Genetics Part A · 55
An association of 19p13.2 microdeletions with Malan syndrome and Chiari malformation
2015 · Keiko Shimojima, Nobuhiko Okamoto, et al. · American Journal of Medical Genetics Part A · 53
Challenges in detecting genomic copy number aberrations using next-generation sequencing data and the eXome Hidden Markov Model: a clinical exome-first diagnostic approach
2016 · Toshiyuki Yamamoto, Keiko Shimojima, et al. · Human Genome Variation · 50
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A familial 593-kb microdeletion of 16p11.2 associated with mental retardation and hemivertebrae
2009 · Keiko Shimojima, Takehiko Inoue, et al. · European Journal of Medical Genetics · 50
Microdeletions of 3p21.31 characterized by developmental delay, distinctive features, elevated serum creatine kinase levels, and white matter involvement
2013 · Kaoru Eto, Norio Sakai, et al. · American Journal of Medical Genetics Part A · 48
Genomic copy number variations at 17p13.3 and epileptogenesis
2010 · Keiko Shimojima, Chitose Sugiura, et al. · Epilepsy Research · 46
TULIP1 (RALGAPA1) haploinsufficiency with brain development delay
2009 · Keiko Shimojima, Yuta Komoike, et al. · Genomics · 44
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An Xq22.1q22.2 nullisomy in a male patient with severe neurological impairment
2017 · Kentaro Shirai, Yuya Higashi, et al. · American Journal of Medical Genetics Part A · 43
Clinical impacts of genomic copy number gains at Xq28
2014 · Toshiyuki Yamamoto, Keiko Shimojima, et al. · Human Genome Variation · 43
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A newly recognised microdeletion syndrome of 2p15-16.1 manifesting moderate developmental delay, autistic behaviour, short stature, microcephaly, and dysmorphic features: a new patient with 3.2 Mb deletion
2009 · J-S Liang, K Shimojima, et al. · Journal of Medical Genetics · 43
Lissencephaly with marked ventricular dilation, agenesis of corpus callosum, and cerebellar hypoplasia caused by TUBA1A mutation
2012 · Akihisa Okumura, Masaharu Hayashi, et al. · Brain and Development · 41
Zebrafish gene knockdowns imply roles for human YWHAG in infantile spasms and cardiomegaly
2010 · Yuta Komoike, Katsunori Fujii, et al. · genesis · 40
The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations
2016 · Mio Hamatani, Naoto Jingami, et al. · Journal of Human Genetics · 39
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Narrowing of the responsible region for severe developmental delay and autistic behaviors in WAGR syndrome down to 1.6 Mb including PAX6, WT1, and PRRG4
2013 · Toshiyuki Yamamoto, Masami Togawa, et al. · American Journal of Medical Genetics Part A · 38
PRRT2 mutation in Japanese children with benign infantile epilepsy
2012 · Akihisa Okumura, Keiko Shimojima, et al. · Brain and Development · 37
Works count: 140
Citation count: 2,964
H-index: 30
I10-index: 99
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