Toshiyuki Yamamoto

Researcher Name Resolver ID ORCID

Publication Activity (10 Years)

Years Active: 2014-2024
Publications (10 Years): 66

Top Topics

Intellectual Disability

Top Venues

Human genome variation

Congenital anomalies

American journal of medical genetics. Part A

Journal of human genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Keiko Shimojima Yamamoto, Sakurako Yamamoto, Taichi Imaizumi, Satoko Kumada, Toshiyuki Yamamoto
Uniparental maternal tetrasomy X co-occurrence with paternal nondisjunction: investigation of the origin of 48,XXXX. Human genome variation 11 (1) (2024)
Ayako Chida-Nagai, Hiroyuki Akagawa, Saori Sawai, Yue-Jiao Ma, Satoshi Yakuwa, Jun Muneuchi, Kazushi Yasuda, Hirokuni Yamazawa, Toshiyuki Yamamoto, Emi Takakuwa, Utano Tomaru, Yoshiyuki Furutani, Tatsuya Kato, Gen Harada, Kei Inai, Toshio Nakanishi, Atsushi Manabe, Atsuhito Takeda, Zhi-Cheng Jing
Identification of Prostaglandin I 2 Synthase Rare Variants in Patients With Williams Syndrome and Severe Peripheral Pulmonary Stenosis. Journal of the American Heart Association 13 (9) (2024)
Ayako Chida-Nagai, Hiroyuki Akagawa, Saori Sawai, Yue-Jiao Ma, Satoshi Yakuwa, Jun Muneuchi, Kazushi Yasuda, Hirokuni Yamazawa, Toshiyuki Yamamoto, Emi Takakuwa, Utano Tomaru, Yoshiyuki Furutani, Tatsuya Kato, Gen Harada, Kei Inai, Toshio Nakanishi, Atsushi Manabe, Atsuhito Takeda, Zhi-Cheng Jing
Identification of Prostaglandin I 2 Synthase Rare Variants in Patients With Williams Syndrome and Severe Peripheral Pulmonary Stenosis. Journal of the American Heart Association 13 (9) (2024)
Keiko Shimojima Yamamoto, Yusuke Itagaki, Kazuki Tanaka, Nobuhiko Okamoto, Toshiyuki Yamamoto
Xq22 deletion involving TCEAL1 in a female patient with early-onset neurological disease trait. Human genome variation 11 (1) (2024)
Ayako Chida-Nagai, Hiroyuki Akagawa, Saori Sawai, Yue-Jiao Ma, Satoshi Yakuwa, Jun Muneuchi, Kazushi Yasuda, Hirokuni Yamazawa, Toshiyuki Yamamoto, Emi Takakuwa, Utano Tomaru, Yoshiyuki Furutani, Tatsuya Kato, Gen Harada, Kei Inai, Toshio Nakanishi, Atsushi Manabe, Atsuhito Takeda, Zhi-Cheng Jing
Identification of Prostaglandin I 2 Synthase Rare Variants in Patients With Williams Syndrome and Severe Peripheral Pulmonary Stenosis. Journal of the American Heart Association 13 (9) (2024)
Rina Shimomura, Tomoe Yanagishita, Kumiko Ishiguro, Minobu Shichiji, Takatoshi Sato, Keiko Shimojima Yamamoto, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Keiko Ishigaki, Satoru Nagata, Yoshihiro Asano, Toshiyuki Yamamoto
Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder. Human genome variation 11 (1) (2024)
Keiko Shimojima Yamamoto, Yusuke Itagaki, Kazuki Tanaka, Nobuhiko Okamoto, Toshiyuki Yamamoto
Xq22 deletion involving TCEAL1 in a female patient with early-onset neurological disease trait. Human genome variation 11 (1) (2024)
Rina Shimomura, Tomoe Yanagishita, Kumiko Ishiguro, Minobu Shichiji, Takatoshi Sato, Keiko Shimojima Yamamoto, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Keiko Ishigaki, Satoru Nagata, Yoshihiro Asano, Toshiyuki Yamamoto
Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder. Human genome variation 11 (1) (2024)
Ayako Chida-Nagai, Hiroyuki Akagawa, Saori Sawai, Yue-Jiao Ma, Satoshi Yakuwa, Jun Muneuchi, Kazushi Yasuda, Hirokuni Yamazawa, Toshiyuki Yamamoto, Emi Takakuwa, Utano Tomaru, Yoshiyuki Furutani, Tatsuya Kato, Gen Harada, Kei Inai, Toshio Nakanishi, Atsushi Manabe, Atsuhito Takeda, Zhi-Cheng Jing
Identification of Prostaglandin I 2 Synthase Rare Variants in Patients With Williams Syndrome and Severe Peripheral Pulmonary Stenosis. Journal of the American Heart Association (2024)
Rina Shimomura, Tomoe Yanagishita, Kumiko Ishiguro, Minobu Shichiji, Takatoshi Sato, Keiko Shimojima Yamamoto, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Keiko Ishigaki, Satoru Nagata, Yoshihiro Asano, Toshiyuki Yamamoto
Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder. Human genome variation 11 (1) (2024)
Keiko Shimojima Yamamoto, Sakurako Yamamoto, Taichi Imaizumi, Satoko Kumada, Toshiyuki Yamamoto
Uniparental maternal tetrasomy X co-occurrence with paternal nondisjunction: investigation of the origin of 48,XXXX. Human genome variation 11 (1) (2024)
Takeaki Tamura, Keiko Shimojima Yamamoto, Jun Tohyama, Ichiro Morioka, Hitoshi Kanno, Toshiyuki Yamamoto
Reciprocal chromosome translocation t(3;4)(q27;q31.2) with deletion of 3q27 and reduced FBXW7 expression in a patient with developmental delay, hypotonia, and seizures. Journal of human genetics (2024)
Keiko Shimojima Yamamoto, Yusuke Itagaki, Kazuki Tanaka, Nobuhiko Okamoto, Toshiyuki Yamamoto
Xq22 deletion involving TCEAL1 in a female patient with early-onset neurological disease trait. Human genome variation 11 (1) (2024)
Erina Nakahara, Keiko Shimojima Yamamoto, Hiromi Ogura, Takako Aoki, Taiju Utsugisawa, Kenko Azuma, Hiroyuki Akagawa, Kenichiro Watanabe, Michiko Muraoka, Fumihiko Nakamura, Michi Kamei, Koji Tatebayashi, Jun Shinozuka, Takahisa Yamane, Makoto Hibino, Yoshiya Katsura, Sonoko Nakano-Akamatsu, Norimitsu Kadowaki, Yoshiro Maru, Etsuro Ito, Shouichi Ohga, Hiroshi Yagasaki, Ichiro Morioka, Toshiyuki Yamamoto, Hitoshi Kanno
Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis. Human genome variation 10 (1) (2023)
Erina Nakahara, Keiko Shimojima Yamamoto, Hiromi Ogura, Takako Aoki, Taiju Utsugisawa, Kenko Azuma, Hiroyuki Akagawa, Kenichiro Watanabe, Michiko Muraoka, Fumihiko Nakamura, Michi Kamei, Koji Tatebayashi, Jun Shinozuka, Takahisa Yamane, Makoto Hibino, Yoshiya Katsura, Sonoko Nakano-Akamatsu, Norimitsu Kadowaki, Yoshiro Maru, Etsuro Ito, Shouichi Ohga, Hiroshi Yagasaki, Ichiro Morioka, Toshiyuki Yamamoto, Hitoshi Kanno
Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis. Human genome variation 10 (1) (2023)
Erina Nakahara, Keiko Shimojima Yamamoto, Hiromi Ogura, Takako Aoki, Taiju Utsugisawa, Kenko Azuma, Hiroyuki Akagawa, Kenichiro Watanabe, Michiko Muraoka, Fumihiko Nakamura, Michi Kamei, Koji Tatebayashi, Jun Shinozuka, Takahisa Yamane, Makoto Hibino, Yoshiya Katsura, Sonoko Nakano-Akamatsu, Norimitsu Kadowaki, Yoshiro Maru, Etsuro Ito, Shouichi Ohga, Hiroshi Yagasaki, Ichiro Morioka, Toshiyuki Yamamoto, Hitoshi Kanno
Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis. Human genome variation 10 (1) (2023)
Keiko Shimojima Yamamoto, Ayumi Yoshimura, Toshiyuki Yamamoto
Biallelic KCTD3 nonsense variant derived from paternal uniparental isodisomy of chromosome 1 in a patient with developmental epileptic encephalopathy and distinctive features. Human genome variation 10 (1) (2023)
Aya Yamazaki, Tomoko Kuroda, Nami Kawasaki, Keiichi Kato, Keiko Shimojima Yamamoto, Takeshi Iwasa, Akira Kuwahara, Yuka Taniguchi, Toshiyuki Takeshita, Yosuke Kita, Mikio Mikami, Minoru Irahara, Toshiyuki Yamamoto
Preimplantation genetic testing using comprehensive genomic copy number analysis is beneficial for balanced translocation carriers. Journal of human genetics (2023)
Keiko Shimojima Yamamoto, Takeaki Tamura, Nobuhiko Okamoto, Eriko Nishi, Atsuko Noguchi, Ikuko Takahashi, Yukio Sawaishi, Masaki Shimizu, Hitoshi Kanno, Yohei Minakuchi, Atsushi Toyoda, Toshiyuki Yamamoto
Identification of small-sized intrachromosomal segments at the ends of INV-DUP-DEL patterns. Journal of human genetics (2023)
Kaoru Eto, Osamu Machida, Tomoe Yanagishita, Keiko Shimojima Yamamoto, Kentaro Chiba, Yasuo Aihara, Yuuki Hasegawa, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Yoshihiro Asano, Satoru Nagata, Toshiyuki Yamamoto
Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis. Human genome variation 9 (1) (2022)
Leif S Ludwig, Caleb A Lareau, Erik L Bao, Nan Liu, Taiju Utsugisawa, Alex M Tseng, Samuel A Myers, Jeffrey M Verboon, Jacob C Ulirsch, Wendy Luo, Christoph Muus, Claudia Fiorini, Meagan E Olive, Christopher M Vockley, Mathias Munschauer, Abigail Hunter, Hiromi Ogura, Toshiyuki Yamamoto, Hiroko Inada, Shinichiro Nakagawa, Shuichi Ozono, Vidya Subramanian, Roberto Chiarle, Bertil Glader, Steven A Carr, Martin J Aryee, Anshul Kundaje, Stuart H Orkin, Aviv Regev, Timothy L McCavit, Hitoshi Kanno, Vijay G Sankaran
Congenital anemia reveals distinct targeting mechanisms for master transcription factor GATA1. Blood 139 (16) (2022)
Keiko Shimojima Yamamoto, Taiju Utshigisawa, Hiromi Ogura, Takako Aoki, Takahiro Kawakami, Shoichi Ohga, Akira Ohara, Etsuro Ito, Toshiyuki Yamamoto, Hitoshi Kanno
Clinical and genetic diagnosis of thirteen Japanese patients with hereditary spherocytosis. Human genome variation 9 (1) (2022)
Tomoe Yanagishita, Takuya Hiraide, Keiko Shimojima Yamamoto, Makoto Funatsuka, Yusaku Miyamoto, Makiko Maeda, Kumiko Yanagi, Tadashi Kaname, Satoru Nagata, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Yoshihiro Asano, Yasushi Sakata, Kenjiro Kosaki, Toshiyuki Yamamoto
HECW2-related disorder in four Japanese patients. American journal of medical genetics. Part A 185 (10) (2021)
Tomoe Yanagishita, Kaoru Eto, Keiko Yamamoto-Shimojima, Osamu Segawa, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Yoshihiro Asano, Yasushi Sakata, Satoru Nagata, Toshiyuki Yamamoto
A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting. Human genome variation 8 (1) (2021)
Eriko Nishi, Tomoko Uehara, Kumiko Yanagi, Yuiko Hasegawa, Kimiko Ueda, Tadashi Kaname, Toshiyuki Yamamoto, Kenjiro Kosaki, Nobuhiko Okamoto
Clinical spectrum of individuals with de novo EBF3 variants or deletions. American journal of medical genetics. Part A 185 (10) (2021)
Tomoe Yanagishita, Takuya Hiraide, Keiko Shimojima Yamamoto, Makoto Funatsuka, Yusaku Miyamoto, Makiko Maeda, Kumiko Yanagi, Tadashi Kaname, Satoru Nagata, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Yoshihiro Asano, Yasushi Sakata, Kenjiro Kosaki, Toshiyuki Yamamoto
Corrigendum to "HECW2-related disorder in four Japanese patients. Am J Med Genet Part A. First published: 28 May 2021 https://doi.org/10.1002/ajmg.a.62363". American journal of medical genetics. Part A 185 (12) (2021)
Kei Wakabayashi, Hitoshi Osaka, Karin Kojima, Taichi Imaizumi, Toshiyuki Yamamoto, Takanori Yamagata
MCT8 deficiency in a patient with a novel frameshift variant in the SLC16A2 gene. Human genome variation 8 (1) (2021)
Toshiyuki Yamamoto
Genomic Aberrations Associated with the Pathophysiological Mechanisms of Neurodevelopmental Disorders. Cells 10 (9) (2021)
Keiko Yamamoto-Shimojima, Hiroyuki Akagawa, Kumiko Yanagi, Tadashi Kaname, Nobuhiko Okamoto, Toshiyuki Yamamoto
Deep intronic deletion in intron 3 of PLP1 is associated with a severe phenotype of Pelizaeus-Merzbacher disease. Human genome variation 8 (1) (2021)
Keiko Shimojima Yamamoto, Tomoe Yanagishita, Hisako Yamamoto, Yusaku Miyamoto, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Yoshihiro Asano, Yasushi Sakata, Toshiyuki Yamamoto
Recurrent de novo pathogenic variant of WASF1 in a Japanese patient with neurodevelopmental disorder with absent language and variable seizures. Human genome variation 8 (1) (2021)
Taichi Imaizumi, Keiko Yamamoto-Shimojima, Tomoe Yanagishita, Yumiko Ondo, Toshiyuki Yamamoto
Analyses of breakpoint junctions of complex genomic rearrangements comprising multiple consecutive microdeletions by nanopore sequencing. Journal of human genetics 65 (9) (2020)
Takako Fujita, Yukiko Ihara, Hitomi Hayashi, Atsushi Ishii, Hiroshi Ideguchi, Takahito Inoue, Taichi Imaizumi, Toshiyuki Yamamoto, Shinichi Hirose
Coffin-Siris syndrome with bilateral macular dysplasia caused by a novel exonic deletion in ARID1B. Congenital anomalies 60 (6) (2020)
Yuki Abe, Toshiyuki Yamamoto, Yukie Izumita, Shinya Tsukano
Gitelman syndrome caused by a novel hemiallelic missense mutation in SLC12A3 revealed by 16q12.2q21 microdeletion. Human genome variation 7 (2020)
Tomoe Yanagishita, Taichi Imaizumi, Keiko Yamamoto-Shimojima, Tamami Yano, Nobuhiko Okamoto, Satoru Nagata, Toshiyuki Yamamoto
Breakpoint junction analysis for complex genomic rearrangements with the caldera volcano-like pattern. Human mutation 41 (12) (2020)
Keiko Yamamoto-Shimojima, Hiroaki Ono, Taichi Imaizumi, Toshiyuki Yamamoto
Novel LAMA2 variants identified in a patient with white matter abnormalities. Human genome variation 7 (2020)
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, Keiko Yamamoto-Shimojima, Hitoshi Kanno
Novel COL4A1 mutations identified in infants with congenital hemolytic anemia in association with brain malformations. Human genome variation 7 (1) (2020)
Taichi Imaizumi, Keiko Yamamoto-Shimojima, Tomoe Yanagishita, Yumiko Ondo, Eriko Nishi, Nobuhiko Okamoto, Toshiyuki Yamamoto
Complex chromosomal rearrangements of human chromosome 21 in a patient manifesting clinical features partially overlapped with that of Down syndrome. Human genetics 139 (12) (2020)
Keiko Yamamoto-Shimojima, Mitsujiro Osawa, Megumu K Saito, Toshiyuki Yamamoto
Induced pluripotent stem cells established from a female patient with Xq22 deletion confirm that BEX2 escapes from X-chromosome inactivation. Congenital anomalies 61 (2) (2020)
Taichi Imaizumi, Keiko Yamamoto-Shimojima, Hitoshi Yamamoto, Toshiyuki Yamamoto
Establishment of a simple and rapid method to detect MECP2 duplications using digital polymerase chain reaction. Congenital anomalies 60 (1) (2019)
Keiko Yamamoto-Shimojima, Taichi Imaizumi, Yusuke Aoki, Ken Inoue, Tadashi Kaname, Yusuke Okuno, Hideki Muramatsu, Kohji Kato, 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 64 (7) (2019)
Taichi Imaizumi, Yukiko Mogami, Nobuhiko Okamoto, Keiko Yamamoto-Shimojima, Toshiyuki Yamamoto
De novo 1p35.2 microdeletion including PUM1 identified in a patient with sporadic West syndrome. Congenital anomalies 59 (6) (2019)
Takao Hoshina, Toshiyuki Seto, Taro Shimono, Hiroaki Sakamoto, Torayuki Okuyama, Takashi Hamazaki, Toshiyuki Yamamoto
Narrowing down the region responsible for 1q23.3q24.1 microdeletion by identifying the smallest deletion. Human genome variation 6 (2019)
Keiko Yamamoto-Shimojima, Taichi Imaizumi, Hiroyuki Akagawa, Hitoshi Kanno, Toshiyuki Yamamoto
Primrose syndrome associated with unclassified immunodeficiency and a novel ZBTB20 mutation. American journal of medical genetics. Part A 182 (3) (2019)
Mari Matsuo, Toshiyuki Yamamoto, Kayoko Saito
Long-term natural history of an adult patient with distal 22q11.2 deletion from low copy repeat-D to E. Congenital anomalies 59 (3) (2018)
Keiko Yamamoto-Shimojima, Masanori Kouwaki, Yuki Kawashima, Kazuya Itomi, Ken Momosaki, Shiro Ozasa, Nobuhiko Okamoto, Kenji Yokochi, Toshiyuki Yamamoto
Natural histories of patients with Wolf-Hirschhorn syndrome derived from variable chromosomal abnormalities. Congenital anomalies 59 (5) (2018)
Shino Shimada, Kyoko Hirasawa, Akiko Takeshita, Hidetsugu Nakatsukasa, Keiko Yamamoto-Shimojima, Taichi Imaizumi, Satoru Nagata, Toshiyuki Yamamoto
Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome. American journal of medical genetics. Part A 176 (12) (2018)
Yoshika Akizawa, Toshiyuki Yamamoto, Kazuo Tamura, Toshiyuki Kanno, Nobuko Takahashi, Takeshi Ohki, Teppei Omori, Katsutoshi Tokushige, Masakazu Yamamoto, Kayoko Saito
A novel MLH1 mutation in a Japanese family with Lynch syndrome associated with small bowel cancer. Human genome variation 5 (2018)
Keiko Shimojima, Nobuhiko Okamoto, Kayo Ohmura, Hiroaki Nagase, Toshiyuki Yamamoto
Infantile spasms related to a 5q31.2-q31.3 microdeletion including PURA. Human genome variation 5 (2018)
Toshiyuki Yamamoto, Keiko Yamamoto-Shimojima, Yuki Ueda, Katsumi Imai, Yukitoshi Takahashi, Eri Imagawa, Noriko Miyake, Naomichi Matsumoto
Independent occurrence of de novo HSPD1 and HIP1 variants in brothers with different neurological disorders - leukodystrophy and autism. Human genome variation 5 (2018)
Keiko Shimojima, Nobuhiko Okamoto, Toshiyuki Yamamoto
A 10q21.3q22.2 microdeletion identified in a patient with severe developmental delay and multiple congenital anomalies including congenital heart defects. Congenital anomalies 58 (1) (2017)
Noriko Sangu, Keiko Shimojima, Yuya Takahashi, Tsukasa Ohashi, Jun Tohyama, Toshiyuki Yamamoto
A 7q31.33q32.1 microdeletion including LRRC4 and GRM8 is associated with severe intellectual disability and characteristics of autism. Human genome variation 4 (2017)
Yongping Lu, Keiko Shimojima, Tomoko Sakuma, Sachiko Nakaoka, Toshiyuki Yamamoto
A novel PLP1 mutation F240L identified in a patient with connatal type Pelizaeus-Merzbacher disease. Human genome variation 4 (2017)
Yongping Lu, Yumiko Ondo, Keiko Shimojima, Hitoshi Osaka, Toshiyuki Yamamoto
A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence. Human genome variation 4 (2017)
Hiroaki Hanafusa, Naoya Morisada, Yusuke Ishida, Ryosuke Sakata, Keiichi Morita, Shizu Miura, Ming Juan Ye, Toshiyuki Yamamoto, Nobuhiko Okamoto, Kandai Nozu, Kazumoto Iijima
The smallest de novo 20q11.2 microdeletion causing intellectual disability and dysmorphic features. Human genome variation 4 (2017)
Keiko Shimojima, Yumiko Ondo, Nobuhiko Okamoto, Toshiyuki Yamamoto
A 15q14 microdeletion involving MEIS2 identified in a patient with autism spectrum disorder. Human genome variation 4 (2017)
Toshiyuki Yamamoto, Keiko Shimojima, Yumiko Ondo, Shuichi Shimakawa, Nobuhiko Okamoto
MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism. American journal of medical genetics. Part A 173 (5) (2017)
Toshiyuki Yamamoto, Yongping Lu, Ryoko Nakamura, Keiko Shimojima, Ryutaro Kira
Novel A178P mutation in SLC16A2 in a patient with Allan-Herndon-Dudley syndrome. Congenital anomalies 58 (4) (2017)
Keiko Shimojima, Takafumi Higashiguchi, Kanako Kishimoto, Satoko Miyatake, Noriko Miyake, Jun-Ichi Takanashi, Naomichi Matsumoto, Toshiyuki Yamamoto
A novel DARS2 mutation in a Japanese patient with leukoencephalopathy with brainstem and spinal cord involvement but no lactate elevation. Human genome variation 4 (2017)
Keiko Shimojima, Toshiyuki Yamamoto
Characteristics of rare and private deletions identified in phenotypically normal individuals. Human genome variation 4 (2017)
Keiko Shimojima, Yumiko Ondo, Eriko Nishi, Seiji Mizuno, Miharu Ito, Aya Ioi, Mariko Shimizu, Maho Sato, Masami Inoue, Nobuhiko Okamoto, Toshiyuki Yamamoto
Loss-of-function mutations and global rearrangements in GPC3 in patients with Simpson-Golabi-Behmel syndrome. Human genome variation 3 (2016)
Toshiyuki Yamamoto, Keiko Shimojima, Yumiko Ondo, Katsumi Imai, Pin Fee Chong, Ryutaro Kira, Mitsuhiro Amemiya, Akira Saito, Nobuhiko Okamoto
Challenges in detecting genomic copy number aberrations using next-generation sequencing data and the eXome Hidden Markov Model: a clinical exome-first diagnostic approach. Human genome variation 3 (2016)
Naoya Morisada, Tomoaki Ioroi, Mariko Taniguchi-Ikeda, Ming Juan Ye, Nobuhiko Okamoto, Toshiyuki Yamamoto, Kazumoto Iijima
A 12p13 GRIN2B deletion is associated with developmental delay and macrocephaly. Human genome variation 3 (2016)
Noriko Sangu, Nobuhiko Okamoto, Keiko Shimojima, Yumiko Ondo, Masanori Nishikawa, Toshiyuki Yamamoto
A de novo microdeletion in a patient with inner ear abnormalities suggests that the 10q26.13 region contains the responsible gene. Human genome variation 3 (2016)
Toshiyuki Yamamoto, Keiko Shimojima, Nobusuke Kimura, Yukiko Mogami, Daisuke Usui, Rumiko Takayama, Hiroko Ikeda, Katsumi Imai
Recurrent occurrences of CDKL5 mutations in patients with epileptic encephalopathy. Human genome variation 2 (2015)
Toshiyuki Yamamoto, Keiko Shimojima, Takashi Shibata, Mari Akiyama, Makio Oka, Tomoyuki Akiyama, Harumi Yoshinaga, Katsuhiro Kobayashi
Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy. Human genome variation 2 (2015)
Toshiyuki Yamamoto, Keiko Shimojima
A novel MED12 mutation associated with non-specific X-linked intellectual disability. Human genome variation 2 (2015)
Shino Shimada, Yoshiko Hirano, Susumu Ito, Hirokazu Oguni, Satoru Nagata, Keiko Shimojima, Toshiyuki Yamamoto
A novel KCNT1 mutation in a Japanese patient with epilepsy of infancy with migrating focal seizures. Human genome variation 1 (2014)
Shino Shimada, Keiko Shimojima, Teruaki Masuda, Yoshiaki Nakayama, Toshihiko Kohji, Hiroko Tsukamoto, Tadashi Matsubasa, Akira Oka, Toshiyuki Yamamoto
MLC1 mutations in Japanese patients with megalencephalic leukoencephalopathy with subcortical cysts. Human genome variation 1 (2014)
Toshiyuki Yamamoto, Keiko Shimojima, Ayako Umemura, Mitsugu Uematsu, Tojo Nakayama, Ken Inoue
SLC16A2 mutations in two Japanese patients with Allan-Herndon-Dudley syndrome. Human genome variation 1 (2014)
Toshiyuki Yamamoto, Keiko Shimojima, Shino Shimada, Kenji Yokochi, Shinsaku Yoshitomi, Keiko Yanagihara, Katsumi Imai, Nobuhiko Okamoto
Clinical impacts of genomic copy number gains at Xq28. Human genome variation 1 (2014)