Yoko Hiraki

Kindai University — Japan

Biochemistry, Genetics and Molecular Biology · Life Sciences

18h-index1.6kcitations37works3.02yr avg
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Research Topics

Genomic variations and chromosomal abnormalities(16), Genomics and Rare Diseases(8), Congenital heart defects research(8), Genetics and Neurodevelopmental Disorders(5), Autism Spectrum Disorder Research(3)

Publications37 total

Perioperative intervention of dysphagia rehabilitation team in older adults with gastric cancer: An inverse probability weighting analysis
Journal of Geriatric Oncology·2024· 3 cited
Molecular diagnosis of 405 individuals with autism spectrum disorder
European Journal of Human Genetics·2023· 18 citedOpen Access
Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants
Genome Medicine·2022· 52 citedOpen Access
Additional file 2 of Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants
Figshare·2022Open Access
Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses
Human Mutation·2020· 34 cited
Skin and hair abnormalities of Cantu syndrome: A congenital hypertrichosis due to a genetic alteration mimicking the pharmacological effect of minoxidil
The Journal of Dermatology·2020· 12 cited
Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities
The American Journal of Human Genetics·2019· 40 citedOpen Access
Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder
Cell Reports·2018· 179 citedOpen Access
Critical involvement of ZEB2 in collagen fibrillogenesis: the molecular similarity between Mowat-Wilson syndrome and Ehlers-Danlos syndrome
Scientific Reports·2017· 20 citedOpen Access
Mutations of zinc finger E-box binding homeobox 2 (ZEB2) leading to develop connecting tissue disorder similar to Ehlers–Danlos syndrome
Journal of Dermatological Science·2016
A new type of ATP-sensitive potassium channelopathy : Cantú syndrome.
PubMed·2016· 1 cited
Detailed analysis of 26 cases of 1q partial duplication/triplication syndrome
American Journal of Medical Genetics Part A·2016· 15 cited
[A Case of Invasive Ductal Carcinoma in the Fat Replacement of the Pancreatic Body and Tail].
PubMed·2015
[A Case of Disseminated Carcinomatosis of the Bone Marrow with Disseminated Intravascular Coagulation Caused by Cecal Cancer Successfully Treated with mFOLFOX6].
PubMed·2015
A case of autism spectrum disorder arising from a de novo missense mutation in POGZ
Journal of Human Genetics·2015· 52 citedOpen Access
Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications
Brain and Development·2014· 64 cited
Duplication of the NPHP1 gene in patients with autism spectrum disorder and normal intellectual ability: a case series
Annals of General Psychiatry·2014· 15 citedOpen Access
The spectrum of <i>ZEB2</i> mutations causing the Mowat–Wilson syndrome in Japanese populations
American Journal of Medical Genetics Part A·2014· 45 cited
A de novo 1.4‐Mb deletion at 21q22.11 in a boy with developmental delay
American Journal of Medical Genetics Part A·2014· 47 cited
Aortic aneurysm and craniosynostosis in a family with Cantu syndrome
American Journal of Medical Genetics Part A·2013· 39 cited
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Frequent Co-authors

Naomichi Matsumoto(22), Nobuhiko Okamoto(18), Yoshinori Tsurusaki(14), Hirotomo Saitsu(14), Noriko Miyake(13), Mitsuhiro Kato(12), Takeshi Mizuguchi(12), Satoko Miyatake(10), Seiji Mizuno(9), Mitsuko Nakashima(9), Eriko Koshimizu(8), Hirofumi Ohashi(6), Atsushi Takata(6), Tomoki Kosho(5), Toshiro Nagai(5), Tohru Ohta(5), Norio Niikawa(5), Noriko Miyake(5), Ryoko Fukai(5), Gen Nishimura(5)