1. A recurrent de novo FAM111A mutation causes kenny–caffey syndrome type 2. (April 2014) Authors: Isojima, Tsuyoshi; Doi, Koichiro; Mitsui, Jun; Oda, Yoichiro; Tokuhiro, Etsuro; Yasoda, Akihiro; Yorifuji, Tohru; Horikawa, Reiko; Yoshimura, Jun; Ishiura, Hiroyuki; Morishita, Shinichi; Tsuji, Shoji; Kitanaka, Sachiko Journal: Journal of bone and mineral research Issue: Volume 29:Number 4(2014:Apr.) Page Start: 992 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. AgIn: measuring the landscape of CpG methylation of individual repetitive elements. (17th June 2016) Authors: Suzuki, Yuta; Korlach, Jonas; Turner, Stephen W.; Tsukahara, Tatsuya; Taniguchi, Junko; Qu, Wei; Ichikawa, Kazuki; Yoshimura, Jun; Yurino, Hideaki; Takahashi, Yuji; Mitsui, Jun; Ishiura, Hiroyuki; Tsuji, Shoji; Takeda, Hiroyuki; Morishita, Shinichi Journal: Bioinformatics Issue: Volume 32:Number 19(2016) Page Start: 2911 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Associations between nucleosome phasing, sequence asymmetry, and tissue-specific expression in a set of inbred Medaka species. (December 2015) Authors: Nakatani, Yoichiro; Mello, Cecilia; Hashimoto, Shin-ichi; Shimada, Atsuko; Nakamura, Ryohei; Tsukahara, Tatsuya; Qu, Wei; Yoshimura, Jun; Suzuki, Yutaka; Sugano, Sumio; Takeda, Hiroyuki; Fire, Andrew; Morishita, Shinichi Journal: BMC genomics Issue: Volume 16:Number 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Atypical parkinsonism caused by Pro105Leu mutation of prion protein: A broad clinical spectrum. (February 2016) Authors: Mano, Kagari Koshi; Matsukawa, Takashi; Mitsui, Jun; Ishiura, Hiroyuki; Tokushige, Shin-ichi; Takahashi, Yuji; Sato, Naoko Saito; Nakamoto, Fumiko Kusunoki; Ichikawa, Yaeko; Nagashima, Yu; Terao, Yasuo; Shimizu, Jun; Hamada, Masashi; Uesaka, Yoshikazu; Oyama, Genko; Ogawa, Go; Yoshimura, Jun; Doi... Journal: Neurology Issue: Volume 2:Number 1(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Burden of rare variants in causative genes for amyotrophic lateral sclerosis (ALS) accelerates age at onset of ALS. Issue 5 (24th October 2018) Authors: Naruse, Hiroya; Ishiura, Hiroyuki; Mitsui, Jun; Takahashi, Yuji; Matsukawa, Takashi; Tanaka, Masaki; Doi, Koichiro; Yoshimura, Jun; Morishita, Shinichi; Goto, Jun; Toda, Tatsushi; Tsuji, Shoji Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 90:Issue 5(2019) Page Start: 537 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Centromere evolution and CpG methylation during vertebrate speciation. Issue 1 (December 2017) Authors: Ichikawa, Kazuki; Tomioka, Shingo; Suzuki, Yuta; Nakamura, Ryohei; Doi, Koichiro; Yoshimura, Jun; Kumagai, Masahiko; Inoue, Yusuke; Uchida, Yui; Irie, Naoki; Takeda, Hiroyuki; Morishita, Shinich Journal: Nature communications Issue: Volume 8:Issue 1(2017) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Clinical and molecular genetic characterization of two female patients harboring the Xq27.3q28 deletion with different ratios of X chromosome inactivation. Issue 8 (19th June 2020) Authors: Katoh, Kimiko; Aiba, Kaori; Fukushi, Daisuke; Yoshimura, Jun; Suzuki, Yasuyo; Mitsui, Jun; Morishita, Shinichi; Tuji, Shoji; Yamada, Kenichiro; Wakamatsu, Nobuaki Journal: Human mutation Issue: Volume 41:Issue 8(2020) Page Start: 1447 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Clinical usefulness of multigene screening with phenotype-driven bioinformatics analysis for the diagnosis of patients with monogenic diabetes or severe insulin resistance. (November 2020) Authors: Hosoe, Jun; Miya, Fuyuki; Kadowaki, Hiroko; Fujiwara, Toyofumi; Suzuki, Ken; Kato, Takashi; Waki, Hironori; Sasako, Takayoshi; Aizu, Katsuya; Yamamura, Natsumi; Sasaki, Fusako; Kurano, Makoto; Hara, Kazuo; Tanaka, Masaki; Ishiura, Hiroyuki; Tsuji, Shoji; Honda, Kenjiro; Yoshimura, Jun; Morishita,... Journal: Diabetes research and clinical practice Issue: Volume 169(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Clinicopathological features of the first Asian family having vocal cord and pharyngeal weakness with distal myopathy due to a MATR3 mutation. (April 2015) Authors: Yamashita, Satoshi; Mori, Akira; Nishida, Yasuto; Kurisaki, Ryoichi; Tawara, Nozomu; Nishikami, Tomo; Misumi, Yohei; Ueyama, Hidetsugu; Imamura, Shigehiro; Higuchi, Yujiro; Hashiguchi, Akihiro; Higuchi, Itsuro; Morishita, Shinichi; Yoshimura, Jun; Uchino, Makoto; Takashima, Hiroshi; Tsuji, Shoji;... Journal: Neuropathology & applied neurobiology Issue: Volume 41:Number 3(2015) Page Start: 391 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Exome sequencing shows a novel de novo mutation in ATL1. Issue 1 (January 2014) Authors: Koh, Kishin; Ishiura, Hiroyuki; Miwa, Michiaki; Doi, Koichiro; Yoshimura, Jun; Mitsui, Jun; Goto, Jun; Morishita, Shinichi; Tsuji, Shoji; Takiyama, Yoshihisa Journal: Neurology and clinical neuroscience Issue: Volume 2:Issue 1(2014:Jan.) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗