1. A case of early‐onset epileptic encephalopathy with a homozygous TBC1D24 variant caused by uniparental isodisomy. Issue 4 (24th January 2019) Authors: Nakashima, Mitsuko; Negishi, Yutaka; Hori, Ikumi; Hattori, Ayako; Saitoh, Shinji; Saitsu, Hirotomo Journal: American journal of medical genetics Issue: Volume 179:Issue 4(2019) Page Start: 645 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly. Issue 1 (December 2017) Authors: Negishi, Yutaka; Miya, Fuyuki; Hattori, Ayako; Johmura, Yoshikazu; Nakagawa, Motoo; Ando, Naoki; Hori, Ikumi; Togawa, Takao; Aoyama, Kohei; Ohashi, Kei; Fukumura, Shinobu; Mizuno, Seiji; Umemura, Ayako; Kishimoto, Yoko; Okamoto, Nobuhiko; Kato, Mitsuhiro; Tsunoda, Tatsuhiko; Yamasaki, Mami; Kanem... Journal: BMC medical genetics Issue: Volume 18:Issue 1(2017) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Anti-M Antibody Induced Prolonged Anemia Following Hemolytic Disease of the Newborn Due to Erythropoietic Suppression in 2 Siblings. Issue 6 (August 2015) Authors: Ishida, Atsushi; Ohto, Hitoshi; Yasuda, Hiroyasu; Negishi, Yutaka; Tsuiki, Hideki; Arakawa, Takeshi; Yagi, Yoshihito; Uchimura, Daisuke; Miyazaki, Toru; Ohashi, Wataru; Takamoto, Shigeru Journal: Journal of pediatric hematology/oncology Issue: Volume 37:Issue 6(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Anti-M Antibody Induced Prolonged Anemia Following Hemolytic Disease of the Newborn Due to Erythropoietic Suppression in 2 Siblings. Issue 6 (August 2015) Authors: Ishida, Atsushi; Ohto, Hitoshi; Yasuda, Hiroyasu; Negishi, Yutaka; Tsuiki, Hideki; Arakawa, Takeshi; Yagi, Yoshihito; Uchimura, Daisuke; Miyazaki, Toru; Ohashi, Wataru; Takamoto, Shigeru Journal: Journal of pediatric hematology/oncology Issue: Volume 37:Issue 6(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Combined genetic analyses can achieve efficient diagnostic yields for subjects with Alagille syndrome and incomplete Alagille syndrome. (2nd August 2017) Authors: Ohashi, Kei; Togawa, Takao; Sugiura, Tokio; Ito, Koichi; Endo, Takeshi; Aoyama, Kohei; Negishi, Yutaka; Kudo, Toyoichiro; Ito, Reiko; Saitoh, Shinji Journal: Acta pædiatrica Issue: Volume 106:Number 11(2017) Page Start: 1817 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. CTCF deletion syndrome: clinical features and epigenetic delineation. Issue 12 (28th August 2017) Authors: Hori, Ikumi; Kawamura, Rie; Nakabayashi, Kazuhiko; Watanabe, Hidetaka; Higashimoto, Ken; Tomikawa, Junko; Ieda, Daisuke; Ohashi, Kei; Negishi, Yutaka; Hattori, Ayako; Sugio, Yoshitsugu; Wakui, Keiko; Hata, Kenichiro; Soejima, Hidenobu; Kurosawa, Kenji; Saitoh, Shinji Journal: Journal of medical genetics Issue: Volume 54:Issue 12(2017) Page Start: 836 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome. Issue 6 (20th December 2018) Authors: Kato, Kohji; Miya, Fuyuki; Hamada, Nanako; Negishi, Yutaka; Narumi-Kishimoto, Yoko; Ozawa, Hiroshi; Ito, Hidenori; Hori, Ikumi; Hattori, Ayako; Okamoto, Nobuhiko; Kato, Mitsuhiro; Tsunoda, Tatsuhiko; Kanemura, Yonehiro; Kosaki, Kenjiro; Takahashi, Yoshiyuki; Nagata, Koh-ichi; Saitoh, Shinji Journal: Journal of medical genetics Issue: Volume 56:Issue 6(2019) Page Start: 388 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Novel splicing mutation in the ASXL3 gene causing Bainbridge–Ropers syndrome. Issue 7 (13th April 2016) Authors: Hori, Ikumi; Miya, Fuyuki; Ohashi, Kei; Negishi, Yutaka; Hattori, Ayako; Ando, Naoki; Okamoto, Nobuhiko; Kato, Mitsuhiro; Tsunoda, Tatsuhiko; Yamasaki, Mami; Kanemura, Yonehiro; Kosaki, Kenjiro; Saitoh, Shinji Journal: American journal of medical genetics Issue: Volume 170:Issue 7(2016) Page Start: 1863 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Role of a heterotrimeric G‐protein, Gi2, in the corticogenesis: possible involvement in periventricular nodular heterotopia and intellectual disability. Issue 1 (29th November 2016) Authors: Hamada, Nanako; Negishi, Yutaka; Mizuno, Makoto; Miya, Fuyuki; Hattori, Ayako; Okamoto, Nobuhiko; Kato, Mitsuhiro; Tsunoda, Tatsuhiko; Yamasaki, Mami; Kanemura, Yonehiro; Kosaki, Kenjiro; Tabata, Hidenori; Saitoh, Shinji; Nagata, Koh‐ichi Journal: Journal of neurochemistry Issue: Volume 140:Issue 1(2017) Page Start: 82 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗