Keiko Yamamoto-Shimojima

Affiliations

Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan; Tokyo Women's Medical University Institute of Integrated Medical Sciences, Tokyo, Japan.

Publications (17)

Genomic backgrounds of Japanese patients with undiagnosed neurodevelopmental disorders.

Brain & development

Avec: Toshiyuki Yamamoto , Taichi Imaizumi , Yongping Lu , Tomoe Yanagishita , Shino Shimada , Pin Fee Chong , Ryutaro Kira , Riyo Ueda , Akihiko Ishiyama , Eri Takeshita , Ken Momosaki , Shiro Ozasa , Tomoyuki Akiyama , Katsuhiro Kobayashi , Hiroo Oomatsu , Hikaru Kitahara , Tokito Yamaguchi , Katsumi Imai , Hirokazu Kurahashi , Akihisa Okumura , Hirokazu Oguni , Toshiyuki Seto , Nobuhiko Okamoto

Novel COL4A1 mutations identified in infants with congenital hemolytic anemia in association with brain malformations.

Human genome variation

Avec: Hiromi Ogura , Shouichi Ohga , Takako Aoki , Taiju Utsugisawa , Hidehiro Takahashi , Asayuki Iwai , Kenichiro Watanabe , Yusuke Okuno , Kenichi Yoshida , Seishi Ogawa , Satoru Miyano , Seiji Kojima , Toshiyuki Yamamoto , Hitoshi Kanno

Molecular Profiles of Breast Cancer in a Single Institution.

Anticancer research

Avec: Takako Kamio , Hidenori Kamio , Takako Aoki , Yumiko Ondo , Tomoki Uchiyama , Motoko Watanabe , Takahiro Okamoto , Hitoshi Kanno , Toshiyuki Yamamoto

Deep intronic deletion in intron 3 of PLP1 is associated with a severe phenotype of Pelizaeus-Merzbacher disease.

Human genome variation

Avec: Hiroyuki Akagawa , Kumiko Yanagi , Tadashi Kaname , Nobuhiko Okamoto , Toshiyuki Yamamoto

Induced pluripotent stem cells established from a female patient with Xq22 deletion confirm that BEX2 escapes from X-chromosome inactivation.

Congenital anomalies

Avec: Mitsujiro Osawa , Megumu K Saito , Toshiyuki Yamamoto

Elucidation of the pathogenic mechanism and potential treatment strategy for a female patient with spastic paraplegia derived from a single-nucleotide deletion in PLP1.

Journal of human genetics

Avec: Taichi Imaizumi , Yusuke Aoki , Ken Inoue , Tadashi Kaname , Yusuke Okuno , Hideki Muramatsu , Kohji Kato , Toshiyuki Yamamoto

Three Japanese patients with 3p13 microdeletions involving FOXP1.

Brain & development

Avec: Nobuhiko Okamoto , Wataru Matsumura , Tetsuya Okazaki , Toshiyuki Yamamoto

Analyses of breakpoint junctions of complex genomic rearrangements comprising multiple consecutive microdeletions by nanopore sequencing.

Journal of human genetics

Avec: Taichi Imaizumi , Tomoe Yanagishita , Yumiko Ondo , Toshiyuki Yamamoto

Establishment of a simple and rapid method to detect MECP2 duplications using digital polymerase chain reaction.

Congenital anomalies

Avec: Taichi Imaizumi , Hitoshi Yamamoto , Toshiyuki Yamamoto

Breakpoint junction analysis for complex genomic rearrangements with the caldera volcano-like pattern.

Human mutation

Avec: Tomoe Yanagishita , Taichi Imaizumi , Tamami Yano , Nobuhiko Okamoto , Satoru Nagata , Toshiyuki Yamamoto

Complex chromosomal rearrangements of human chromosome 21 in a patient manifesting clinical features partially overlapped with that of Down syndrome.

Human genetics

Avec: Taichi Imaizumi , Tomoe Yanagishita , Yumiko Ondo , Eriko Nishi , Nobuhiko Okamoto , Toshiyuki Yamamoto

Novel

Human genome variation

Avec: Hiroaki Ono , Taichi Imaizumi , Toshiyuki Yamamoto

Advantages of ddPCR in detection of

Intractable & rare diseases research

Avec: Taichi Imaizumi , Toshiyuki Yamamoto

Phenotypic features of 1q41q42 microdeletion including WDR26 and FBXO28 are clinically recognizable: The first case from Japan.

Brain & development

Avec: Tomoe Yanagishita , Sayaka Nakano , Testuya Sasaki , Hideo Shigematsu , Katsumi Imai , Toshiyuki Yamamoto

Primrose syndrome associated with unclassified immunodeficiency and a novel ZBTB20 mutation.

American journal of medical genetics. Part A

Avec: Taichi Imaizumi , Hiroyuki Akagawa , Hitoshi Kanno , Toshiyuki Yamamoto

Natural histories of patients with Wolf-Hirschhorn syndrome derived from variable chromosomal abnormalities.

Congenital anomalies

Avec: Masanori Kouwaki , Yuki Kawashima , Kazuya Itomi , Ken Momosaki , Shiro Ozasa , Nobuhiko Okamoto , Kenji Yokochi , Toshiyuki Yamamoto

A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting.

Human genome variation

Avec: Tomoe Yanagishita , Kaoru Eto , Osamu Segawa , Miho Nagata , Yasuki Ishihara , Yohei Miyashita , Yoshihiro Asano , Yasushi Sakata , Satoru Nagata , Toshiyuki Yamamoto

Réseau de co-auteurs

Toshiyuki Yamamoto 17 collaborations

Taichi Imaizumi 9 collaborations

Tomoe Yanagishita 6 collaborations

Nobuhiko Okamoto 6 collaborations

Hitoshi Kanno 3 collaborations

Yumiko Ondo 3 collaborations

Ken Momosaki 2 collaborations

Shiro Ozasa 2 collaborations

Katsumi Imai 2 collaborations

Takako Aoki 2 collaborations

Yusuke Okuno 2 collaborations

Hiroyuki Akagawa 2 collaborations

Tadashi Kaname 2 collaborations

Satoru Nagata 2 collaborations

Yongping Lu 1 collaboration

Shino Shimada 1 collaboration

Pin Fee Chong 1 collaboration

Ryutaro Kira 1 collaboration

Riyo Ueda 1 collaboration

Akihiko Ishiyama 1 collaboration

Eri Takeshita 1 collaboration

Tomoyuki Akiyama 1 collaboration

Katsuhiro Kobayashi 1 collaboration

Hiroo Oomatsu 1 collaboration

Hikaru Kitahara 1 collaboration

Tokito Yamaguchi 1 collaboration

Hirokazu Kurahashi 1 collaboration

Akihisa Okumura 1 collaboration

Hirokazu Oguni 1 collaboration

Toshiyuki Seto 1 collaboration

Hiromi Ogura 1 collaboration

Shouichi Ohga 1 collaboration

Taiju Utsugisawa 1 collaboration

Hidehiro Takahashi 1 collaboration

Asayuki Iwai 1 collaboration

Kenichiro Watanabe 1 collaboration

Kenichi Yoshida 1 collaboration

Seishi Ogawa 1 collaboration

Satoru Miyano 1 collaboration

Seiji Kojima 1 collaboration

Takako Kamio 1 collaboration

Hidenori Kamio 1 collaboration

Tomoki Uchiyama 1 collaboration

Motoko Watanabe 1 collaboration

Takahiro Okamoto 1 collaboration

Kumiko Yanagi 1 collaboration

Mitsujiro Osawa 1 collaboration

Megumu K Saito 1 collaboration

Yusuke Aoki 1 collaboration

Ken Inoue 1 collaboration

Hideki Muramatsu 1 collaboration

Kohji Kato 1 collaboration

Wataru Matsumura 1 collaboration

Tetsuya Okazaki 1 collaboration

Hitoshi Yamamoto 1 collaboration

Tamami Yano 1 collaboration

Eriko Nishi 1 collaboration

Hiroaki Ono 1 collaboration

Sayaka Nakano 1 collaboration

Testuya Sasaki 1 collaboration

Hideo Shigematsu 1 collaboration

Masanori Kouwaki 1 collaboration

Yuki Kawashima 1 collaboration

Kazuya Itomi 1 collaboration

Kenji Yokochi 1 collaboration

Kaoru Eto 1 collaboration

Osamu Segawa 1 collaboration

Miho Nagata 1 collaboration

Yasuki Ishihara 1 collaboration

Yohei Miyashita 1 collaboration

Yoshihiro Asano 1 collaboration

Yasushi Sakata 1 collaboration