Takahiro Yamada

Publication Activity (10 Years)

Years Active: 2016-2024
Publications (10 Years): 30

Top Venues

Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis

American journal of medical genetics. Part A

Kyoto University Hospital

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

Affiliation History

Kyoto University Hospital Jun 01 2017

Japan

Associate Professor :: Clinical Genetics Unit

Publications

Paniz Farshadyeganeh, Takahiro Yamada, Hirofumi Ohashi, Gen Nishimura, Hiroki Fujita, Yuriko Oishi, Misa Nunode, Shuku Ishikawa, Jun Murotsuki, Yuri Yamashita, Shiro Ikegawa, Tomoo Ogi, Eri Arikawa-Hirasawa, Kinji Ohno
Dyssegmental dysplasia Rolland-Desbuquois type is caused by pathogenic variants in HSPG2 - a founder haplotype shared in five patients. Journal of human genetics 69 (6) (2024)
Lin Wang, Shuji Mizumoto, Ruixue Zhang, Yuqi Zhang, Yuan Liu, Wenjing Cheng, Xin Li, Min Dan, Chunyan Zhang, Xinru Gao, Juan Wang, Jiaqi Han, Lianying Jiao, Yating Wang, Qiujie Jin, Lihui Yang, Chenxing Li, Shuxian Li, Jinhui Zhu, Hai Jiang, Gen Nishimura, Takahiro Yamada, Shuhei Yamada, Na Cai, Rong Qiang, Long Guo
Identification of a novel LFNG variant in a Chinese fetus with spondylocostal dysostosis and a systematic review. Journal of human genetics 69 (7) (2024)
Paniz Farshadyeganeh, Takahiro Yamada, Hirofumi Ohashi, Gen Nishimura, Hiroki Fujita, Yuriko Oishi, Misa Nunode, Shuku Ishikawa, Jun Murotsuki, Yuri Yamashita, Shiro Ikegawa, Tomoo Ogi, Eri Arikawa-Hirasawa, Kinji Ohno
Dyssegmental dysplasia Rolland-Desbuquois type is caused by pathogenic variants in HSPG2 - a founder haplotype shared in five patients. Journal of human genetics 69 (6) (2024)
Paniz Farshadyeganeh, Takahiro Yamada, Hirofumi Ohashi, Gen Nishimura, Hiroki Fujita, Yuriko Oishi, Misa Nunode, Shuku Ishikawa, Jun Murotsuki, Yuri Yamashita, Shiro Ikegawa, Tomoo Ogi, Eri Arikawa-Hirasawa, Kinji Ohno
Dyssegmental dysplasia Rolland-Desbuquois type is caused by pathogenic variants in HSPG2 - a founder haplotype shared in five patients. Journal of human genetics (2024)
Saki Shimada, Takahiro Yamada, Akari Minamoto, Manami Matsukawa, Ichiro Yabe, Hiroshi Tada, Katsutoshi Oda, Arisa Ueki, Satomi Higashigawa, Maki Morikawa, Yuki Sato, Akira Hiraswa, Masanobu Ogawa, Tomohiro Kondo, Masahiro Yoshioka, Masashi Kanai, Manabu Muto, Shinji Kosugi
Nationwide survey of the secondary findings in cancer genomic profiling: survey including liquid biopsy. Journal of human genetics (2024)
Lin Wang, Shuji Mizumoto, Ruixue Zhang, Yuqi Zhang, Yuan Liu, Wenjing Cheng, Xin Li, Min Dan, Chunyan Zhang, Xinru Gao, Juan Wang, Jiaqi Han, Lianying Jiao, Yating Wang, Qiujie Jin, Lihui Yang, Chenxing Li, Shuxian Li, Jinhui Zhu, Hai Jiang, Gen Nishimura, Takahiro Yamada, Shuhei Yamada, Na Cai, Rong Qiang, Long Guo
Identification of a novel LFNG variant in a Chinese fetus with spondylocostal dysostosis and a systematic review. Journal of human genetics (2024)
Paniz Farshadyeganeh, Takahiro Yamada, Hirofumi Ohashi, Gen Nishimura, Hiroki Fujita, Yuriko Oishi, Misa Nunode, Shuku Ishikawa, Jun Murotsuki, Yuri Yamashita, Shiro Ikegawa, Tomoo Ogi, Eri Arikawa-Hirasawa, Kinji Ohno
Dyssegmental dysplasia Rolland-Desbuquois type is caused by pathogenic variants in HSPG2 - a founder haplotype shared in five patients. Journal of human genetics 69 (6) (2024)
Lin Wang, Shuji Mizumoto, Ruixue Zhang, Yuqi Zhang, Yuan Liu, Wenjing Cheng, Xin Li, Min Dan, Chunyan Zhang, Xinru Gao, Juan Wang, Jiaqi Han, Lianying Jiao, Yating Wang, Qiujie Jin, Lihui Yang, Chenxing Li, Shuxian Li, Jinhui Zhu, Hai Jiang, Gen Nishimura, Takahiro Yamada, Shuhei Yamada, Na Cai, Rong Qiang, Long Guo
Identification of a novel LFNG variant in a Chinese fetus with spondylocostal dysostosis and a systematic review. Journal of human genetics 69 (7) (2024)
Paniz Farshadyeganeh, Takahiro Yamada, Hirofumi Ohashi, Gen Nishimura, Hiroki Fujita, Yuriko Oishi, Misa Nunode, Shuku Ishikawa, Jun Murotsuki, Yuri Yamashita, Shiro Ikegawa, Tomoo Ogi, Eri Arikawa-Hirasawa, Kinji Ohno
Dyssegmental dysplasia Rolland-Desbuquois type is caused by pathogenic variants in HSPG2 - a founder haplotype shared in five patients. Journal of human genetics 69 (6) (2024)
Katsuhiko Naruse, Ritsuko Kimata Pooh, Yutaka Kyukawa, Taihei Tsunemi, Takahiro Yamada
Change in client choice under multiple prenatal genetic testing options including noninvasive prenatal testing (NIPT) after genetic counseling in a Japanese maternity hospital. The journal of obstetrics and gynaecology research (2023)
Eri Sakai, Takahiro Yamada, Tomomi Funaki, Miho Iwakuma, Harumo Osawa, Kana Morimoto, Shinji Kosugi
Fundamental knowledge taught in compulsory education for effective genetic counseling: a qualitative study of descriptions in textbooks. Journal of community genetics (2023)
Hidenori Kawasaki, Takahiro Yamada, Yoshimitsu Takahashi, Takeo Nakayama, Takahito Wada, Shinji Kosugi, null null
Mortality and morbidity of infants with trisomy 21, weighing 1500 grams or less, in Japan. Journal of human genetics 67 (11) (2022)
Kana Hiromoto, Takahiro Yamada, Mio Tsuchiya, Hiroshi Kawame, Eiji Nanba, Yu-Ichi Goto, Shinji Kosugi
Challenges of secondary finding disclosure in genomic medicine in rare diseases: A nation-wide survey of Japanese facilities outsourcing comprehensive genetic testing. Journal of human genetics (2022)
Yuko Yamaguchi, Takahiro Yamada, Mikako Goto, Hidenori Kawasaki, Takahito Wada, Yasuko Ikeda-Sakai, Yoshiyuki Saito, Masahiro Hayashi, Shiro Tanaka, Ryosuke Takahashi, Takeo Nakayama, Atsuko Murashima, Shinji Kosugi
Analysis of triptan use during pregnancy in Japan: A case series. Congenital anomalies 62 (2) (2022)
Akio Kamiya, Takahiro Yamada, Aya Yoshida, Takashi Doi, Hidetaka Okada
Perinatal management of tension pneumothorax due to cystoamniotic shunt displacement. Congenital anomalies 62 (4) (2022)
Akari Minamoto, Takahiro Yamada, Saki Shimada, Ichiro Kinoshita, Yoko Aoki, Katsutoshi Oda, Arisa Ueki, Satomi Higashigawa, Maki Morikawa, Yuki Sato, Akira Hiraswa, Masanobu Ogawa, Tomohiro Kondo, Masahiro Yoshioka, Masashi Kanai, Manabu Muto, Shinji Kosugi
Current status and issues related to secondary findings in the first public insurance covered tumor genomic profiling in Japan: multi-site questionnaire survey. Journal of human genetics 67 (10) (2022)
Saki Shimada, Takahiro Yamada, Miho Iwakuma, Shinji Kosugi
Physicians' perceptions of the factors influencing disclosure of secondary findings in tumour genomic profiling in Japan: a qualitative study. European journal of human genetics : EJHG (2021)
Hidenori Kawasaki, Takahiro Yamada, Yoshimitsu Takahashi, Takeo Nakayama, Takahito Wada, Shinji Kosugi, null null
The short-term mortality and morbidity of very low birth weight infants with trisomy 18 or trisomy 13 in Japan. Journal of human genetics 66 (3) (2020)
Mio Tsuchiya, Takahiro Yamada, Rina Akaishi, Haruka Hamanoue, Akira Hirasawa, Maki Hyodo, Issei Imoto, Tomoki Kosho, Kenji Kurosawa, Hiromi Murakami, Kaname Nakatani, Fumio Nomura, Aiko Sasaki, Kenji Shimizu, Mariko Tamai, Hiroshi Umemura, Atsushi Watanabe, Akiko Yoshida, Hiroshi Yoshihashi, Junko Yotsumoto, Shinji Kosugi
Attitudes toward and current status of disclosure of secondary findings from next-generation sequencing: a nation-wide survey of clinical genetics professionals in Japan. Journal of human genetics 65 (12) (2020)
Shingo Io, Atsushi Watanabe, Shigehito Yamada, Masaki Mandai, Takahiro Yamada
Perinatal benign hypophosphatasia antenatally diagnosed through measurements of parental serum alkaline phosphatase and ultrasonography. Congenital anomalies 60 (6) (2020)
Hidenori Kawasaki, Takahiro Yamada, Takahito Wada, Shinji Kosugi
Current status and legal/ethical problems in the research use of the tissues of aborted human fetuses in Japan. Congenital anomalies 60 (6) (2020)
Yoshihiro Yamamoto, Masashi Kanai, Tadayuki Kou, Aiko Sugiyama, Eijiro Nakamura, Hidehiko Miyake, Takahiro Yamada, Masakazu Nishigaki, Tomohiro Kondo, Hiromi Murakami, Masako Torishima, Shigemi Matsumoto, Shinji Kosugi, Manabu Muto
Clinical significance of TP53 variants as possible secondary findings in tumor-only next-generation sequencing. Journal of human genetics 65 (2) (2019)
Yuka Shibata, Ichiro Yabe, Masaaki Matsushima, Naoki Hashimoto, Takahiro Yamada, Hidenao Sasaki
Investigating the role of genetic counseling in neuromuscular disease considering life events. Journal of human genetics 64 (6) (2019)
Miho Nagata, Kazuya Setoh, Meiko Takahashi, Koichiro Higasa, Takahisa Kawaguchi, Hidenori Kawasaki, Takahito Wada, Atsushi Watanabe, Hideaki Sawai, Yasuharu Tabara, Takahiro Yamada, Fumihiko Matsuda, Shinji Kosugi
Association of ALPL variants with serum alkaline phosphatase and bone traits in the general Japanese population: The Nagahama Study. Journal of human genetics 65 (3) (2019)
Nobuhiro Suzumori, Akihiko Sekizawa, Eri Takeda, Osamu Samura, Aiko Sasaki, Rina Akaishi, Seiji Wada, Haruka Hamanoue, Fumiki Hirahara, Hiroko Kuriki, Hideaki Sawai, Hiroaki Nakamura, Takahiro Yamada, Kiyonori Miura, Hideaki Masuzaki, Takahiro Yamashita, Yoshimasa Kamei, Akira Namba, Jun Murotsuki, Tomohiro Tanemoto, Akimune Fukushima, Kazufumi Haino, Shinya Tairaku, Keiichi Matsubara, Kazutoshi Maeda, Takashi Kaji, Masanobu Ogawa, Hisao Osada, Haruki Nishizawa, Yoko Okamoto, Takeshi Kanagawa, Aiko Kakigano, Masayuki Endo, Michihiro Kitagawa, Masaki Ogawa, Shunichiro Izumi, Yukiko Katagiri, Naoki Takeshita, Yasuyo Kasai, Katsuhiko Naruse, Reiko Neki, Hisashi Masuyama, Maki Hyodo, Yukie Kawano, Takashi Ohba, Kiyotake Ichizuka, Takeshi Nagamatsu, Atsushi Watanabe, Naomi Nishikawa, Naoki Hamajima, Nahoko Shirato, Junko Yotsumoto, Miyuki Nishiyama, Keiko Koide, Tatsuko Hirose, Haruhiko Sago
Classification of factors involved in nonreportable results of noninvasive prenatal testing (NIPT) and prediction of success rate of second NIPT. Prenatal diagnosis 39 (2) (2019)
Iku Taguchi, Takahiro Yamada, Rina Akaishi, Issei Imoto, Kenji Kurosawa, Kaname Nakatani, Fumio Nomura, Haruka Hamanoue, Maki Hyodo, Hiromi Murakami, Hiroshi Yoshihashi, Junko Yotsumoto, Shinji Kosugi
Attitudes of clinical geneticists and certified genetic counselors to genome editing and its clinical applications: A nation-wide questionnaire survey in Japan. Journal of human genetics 64 (9) (2019)
Takahiro Yamada, Akihiko Sekizawa, Yosuke Fujii, Tatsuko Hirose, Osamu Samura, Nobuhiro Suzumori, Kiyonori Miura, Hideaki Sawai, Fumiki Hirahara, Jun Murotsuki, Yoshimasa Kamei, Haruhiko Sago, null null
Maternal age-specific risk for trisomy 21 based on the clinical performance of NIPT and empirically derived NIPT age-specific positive and negative predictive values in Japan. Journal of human genetics 63 (10) (2018)
Takashi Kikuiri, Hiroyuki Mishima, Hideto Imura, Satoshi Suzuki, Yusuke Matsuzawa, Takashi Nakamura, Satoshi Fukumoto, Yoshitaka Yoshimura, Satoshi Watanabe, Akira Kinoshita, Takahiro Yamada, Masanobu Shindoh, Yoshihiko Sugita, Hatsuhiko Maeda, Yasutaka Yawaka, Tadashi Mikoya, Nagato Natsume, Koh-Ichiro Yoshiura
Patients with SATB2-associated syndrome exhibiting multiple odontomas. American journal of medical genetics. Part A 176 (12) (2018)
Yuka Shibata, Masaaki Matsushima, Ichiro Yabe, Koichiro Matsuda, Azusa Nagai, Takahiro Kano, Takahiro Yamada, Yoshiki Sekijima, Hidenao Sasaki
Pseudo-homozygous mutation due to a primer site polymorphism in hereditary ATTR amyloidosis: a pitfall of PCR-based genetic testing. Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis 24 (1) (2017)
Takahiro Yamada, Obata-Yasuoka Mana, Hiromi Hamada, Yosuke Baba, Akihide Ohkuchi, Shun Yasuda, Kosuke Kawabata, Shiori Minakawa, Chihiro Hirai, Hideto Kusaka, Nao Murabayashi, Yusuke Inde, Michikazu Nagura, Takeshi Umazume, Atsuo Itakura, Makoto Maeda, Norimasa Sagawa, Yasumasa Ohno, Soromon Kataoka, Keiya Fujimori, Yoshiki Kudo, Tomoaki Ikeda, Akihito Nakai, Hisanori Minakami
Isolated gestational proteinuria preceding the diagnosis of preeclampsia - an observational study. Acta obstetricia et gynecologica Scandinavica 95 (9) (2016)

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Publication Activity (10 Years)

Top Topics

Top Venues

Takahiro Yamada