Yoko Hiraki
Hiroshima, Japan
Last Updated: 09/26/2026
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Found 15 publications
Molecular diagnosis of 405 individuals with autism spectrum disorder.
Journal: European journal of human genetics : EJHG
Published: December 11, 2022
Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.
Journal: Genome medicine
Published: August 31, 2021
Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses.
Journal: Human mutation
Published: June 20, 2020
Skin and hair abnormalities of Cantu syndrome: A congenital hypertrichosis due to a genetic alteration mimicking the pharmacological effect of minoxidil.
Journal: The Journal of dermatology
Published: October 02, 2019
Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities.
Journal: American journal of human genetics
Published: July 17, 2019
Critical involvement of ZEB2 in collagen fibrillogenesis: the molecular similarity between Mowat-Wilson syndrome and Ehlers-Danlos syndrome.
Journal: Scientific reports
Published: November 29, 2016
A new type of ATP-sensitive potassium channelopathy : Cantú syndrome.
Journal: No to hattatsu = Brain and development
Published: September 01, 2016
Detailed analysis of 26 cases of 1q partial duplication/triplication syndrome.
Journal: American journal of medical genetics. Part A
Published: April 06, 2015
A case of autism spectrum disorder arising from a de novo missense mutation in POGZ.
Journal: Journal of human genetics
Published: December 02, 2014
Duplication of the NPHP1 gene in patients with autism spectrum disorder and normal intellectual ability: a case series.
Journal: Annals of general psychiatry
Published: May 03, 2014
Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications.
Journal: Brain & development
Published: April 02, 2014
Last Updated: 09/26/2026