[1]. ゲノム医療をめざして 眼遺伝学の研究と臨床
日本眼科学会雑誌 (公財)日本眼科学会 [巻]127 [号]3 [頁]297 -328 (2023年) [査読] 無
[2]. Coenzyme Q10 in the eye isomerizes by sunlight irradiation.
Scientific Reports Nature Portfolio [巻]12 [頁]12104 (2022年) [査読] 有
[3]. Identification of susceptibility loci for light-induced visual impairment in rats.
Experimental Eye Research Elsevier [巻]210 [頁]108688 (2021年) [査読] 有
[DOI] [4]. Analysis of IKBKG/NEMO gene in five Japanese cases of incontinentia pigmenti with retinopathy: fine genomic assay of a rare male case with mosaicism.
Journal of Human Genetics Nature Publishing Group on behalf of the Japan Society of Human Genetics (Japan) [巻]66 [号]2 [頁]205 -214 (2021年) [査読] 有
[DOI] [5]. A Japanese family with cone-rod dystrophy of delayed onset caused by a compound heterozygous combination of novel frameshift and known missense variants.
Human genome variation [巻]6 [頁]18 (2019年) [査読] 有
[DOI]