A. Hirakiyama

Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies.

M. Yamada, T. Inoue, Tadashi Inoue, 2000, Human molecular genetics.

A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan

T. Okuyama, M. Kosuga, Y. Fukuhara, 2017, Molecular genetics and metabolism reports.

Retinoic acid imprints gut-homing specificity on T cells.

Si-young Song, H. Kagechika, C. Kato, 2004, Immunity.

Molecular diagnosis of 65 families with mucopolysaccharidosis type II (Hunter syndrome) characterized by 16 novel mutations in the IDS gene: Genetic, pathological, and structural studies on iduronate-2-sulfatase.

T. Okuyama, M. Kosuga, K. Ohno, 2016, Molecular genetics and metabolism.

Transcriptome Tomography for Brain Analysis in the Web-Accessible Anatomical Space

Gang Song, Hideo Yokota, Ryutaro Himeno, 2012, PloS one.

Identification of mutations in the prostaglandin transporter gene SLCO2A1 and its phenotype-genotype correlation in Japanese patients with pachydermoperiostosis.

H. Okano, A. Shiohama, Takashi Sasaki, 2012, Journal of dermatological science.

The novel SLCO2A1 heterozygous missense mutation p.E427K and nonsense mutation p.R603* in a female patient with pachydermoperiostosis with an atypical phenotype

A. Shiohama, J. Kudoh, K. Kabashima, 2014, The British journal of dermatology.

The complete type of pachydermoperiostosis: a novel nonsense mutation p.E141* of the SLCO2A1 gene.

A. Shiohama, J. Kudoh, K. Matsuoka, 2014, Journal of dermatological science.