Toshiki Takenouchi, Fan-Yan Wei, Hisato Suzuki, Tomoko Uehara, Takao Takahashi, Yasushi Okazaki, Kenjiro Kosaki, Kazuhito Tomizawa. Noninvasive diagnosis of TRIT1-related mitochondrial disorder by measuring i(6)A37 and ms(2)i(6)A37 modifications in tRNAs from blood and urine samples. AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2019. 179. 8. 1609-1614
Hisato Suzuki, Toshiki Takenouchi, Tomoko Uehara, Satoshi Takasago, Satoshi Ihara, Hiroshi Yoshihashi, Kenjiro Kosaki. Severe Noonan syndrome phenotype associated with a germline Q71R MRAS variant: a recurrent substitution in RAS homologs in various cancers. American journal of medical genetics. Part A. 2019. 179. 8. 1628-1630
Mamiko Yamada, Tomoko Uehara, Hisato Suzuki, Toshiki Takenouchi, Hiroshi Yoshihashi, Hiroshi Suzumura, Seiji Mizuno, Kenjiro Kosaki. SATB2-associated syndrome in patients from Japan: Linguistic profiles. AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2019. 179. 6. 896-899
Hisato Suzuki, Tomoko Watanabe, Tomoko Uehara, Kenjiro Kosaki. Medical genetics and genomic medicine in Japan. American journal of medical genetics. Part C, Seminars in medical genetics. 2019. 181. 2. 166-169
Mishima H, Suzuki H, Doi M, Miyazaki M, Watanabe S, Matsumoto T, Morifuji K, Moriuchi H, Yoshiura KI, Kondoh T, et al. Evaluation of Face2Gene using facial images of patients with congenital dysmorphic syndromes recruited in Japan. Journal of human genetics. 2019
