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Yoko Hiraki
Observed name:
Hiraki, Yoko
Observed institution:
Yokohama City University
OpenAlex ID:
A5109141013
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome
2012
·
Yoshinori Tsurusaki
, Nobuhiko Okamoto
, et al.
·
Nature Genetics
·
532
MLL2 and KDM6A mutations in patients with Kabuki syndrome
2013
·
Noriko Miyake
, Eriko Koshimizu
, et al.
·
American Journal of Medical Genetics Part A
·
190
Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder
2018
·
Atsushi Takata
, Noriko Miyake
, et al.
·
Cell Reports
·
174
PDF
Clinical correlations of mutations affecting six components of the SWI / SNF complex: Detailed description of 21 patients and a review of the literature
2013
·
Tomoki Kosho
, Nobuhiko Okamoto
, et al.
·
American Journal of Medical Genetics Part A
·
105
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
BAC array CGH reveals genomic aberrations in idiopathic mental retardation
2006
·
Noriko Miyake
, Osamu Shimokawa
, et al.
·
American Journal of Medical Genetics Part A
·
64
Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants
2022
·
Kohei Hamanaka
, Noriko Miyake
, et al.
·
Genome Medicine
·
48
PDF
A case of autism spectrum disorder arising from a de novo missense mutation in POGZ
2015
·
Ryoko Fukai
, Yoko Hiraki
, et al.
·
Journal of Human Genetics
·
48
A de novo 1.4‐Mb deletion at 21q22.11 in a boy with developmental delay
2014
·
Ryoko Fukai
, Yoko Hiraki
, et al.
·
American Journal of Medical Genetics Part A
·
47
The spectrum of ZEB2 mutations causing the Mowat–Wilson syndrome in Japanese populations
2014
·
Yasukazu Yamada
, Noriko Nomura
, et al.
·
American Journal of Medical Genetics Part A
·
44
Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities
2019
·
Noriko Miyake
, Hidehisa Takahashi
, et al.
·
The American Journal of Human Genetics
·
43
PDF
Aortic aneurysm and craniosynostosis in a family with Cantu syndrome
2013
·
Yoko Hiraki
, Satoko Miyatake
, et al.
·
American Journal of Medical Genetics Part A
·
40
Zebrafish gene knockdowns imply roles for human YWHAG in infantile spasms and cardiomegaly
2010
·
Yuta Komoike
, Katsunori Fujii
, et al.
·
genesis
·
40
Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses
2020
·
Yuri Uchiyama
, Daisuke Yamaguchi
, et al.
·
Human Mutation
·
34
Molecular diagnosis of 405 individuals with autism spectrum disorder
2023
·
Noriko Miyake
, Yoshinori Tsurusaki
, et al.
·
European Journal of Human Genetics
·
29
PDF
Critical involvement of ZEB2 in collagen fibrillogenesis: the molecular similarity between Mowat-Wilson syndrome and Ehlers-Danlos syndrome
2017
·
Mika Teraishi
, Mikiro Takaishi
, et al.
·
Scientific Reports
·
21
PDF
Craniosynostosis in a patient with a de novo 15q15‐q22 deletion
2008
·
Yoko Hiraki
, Miyuki Moriuchi
, et al.
·
American Journal of Medical Genetics Part A
·
20
Two new cases of pure 1q terminal deletion presenting with brain malformations
2008
·
Yoko Hiraki
, Nobuhiko Okamoto
, et al.
·
American Journal of Medical Genetics Part A
·
20
De novo deletion of 1q24.3‐q31.2 in a patient with severe growth retardation
2010
·
Akira Nishimura
, Yoko Hiraki
, et al.
·
American Journal of Medical Genetics Part A
·
19
Mild craniosynostosis with 1p36.3 trisomy and 1p36.3 deletion syndrome caused by familial translocation t(Y;1)
2006
·
Yoko Hiraki
, Hiroko Fujita
, et al.
·
American Journal of Medical Genetics Part A
·
19
Detailed analysis of 26 cases of 1q partial duplication/triplication syndrome
2016
·
Satoshi Watanabe
, Kenji Shimizu
, et al.
·
American Journal of Medical Genetics Part A
·
16
Skin and hair abnormalities of Cantu syndrome: A congenital hypertrichosis due to a genetic alteration mimicking the pharmacological effect of minoxidil
2020
·
Kentaro Ohko
, Kimiko Nakajima
, et al.
·
The Journal of Dermatology
·
13
Duplication of the NPHP1 gene in patients with autism spectrum disorder and normal intellectual ability: a case series
2014
·
Yuka Yasuda
, Ryota Hashimoto
, et al.
·
Annals of General Psychiatry
·
12
PDF
A de novo deletion of 20q11.2–q12 in a boy presenting with abnormal hands and feet, retinal dysplasia, and intractable feeding difficulty
2011
·
Yoko Hiraki
, Akira Nishimura
, et al.
·
American Journal of Medical Genetics Part A
·
11
A new type of ATP-sensitive potassium channelopathy : Cantú syndrome.
2016
·
Yoko Hiraki
, Hiroki Takanari
·
PubMed
·
1
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Works count:
29
Citation count:
1,657
H-index:
19
I10-index:
24
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