Hiroki Kurahashi

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 26

Top Topics

Cancer Stem Cells

Congenital Heart Disease

Pulmonary Hypertension

Top Venues

Prenatal diagnosis

American journal of medical genetics. Part A

The Journal of dermatology

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

Publications

Mamiko Yamada, Seiji Mizuno, Mie Inaba, Tomoko Uehara, Hidehito Inagaki, Hisato Suzuki, Fuyuki Miya, Toshiki Takenouchi, Hiroki Kurahashi, Kenjiro Kosaki
Truncating variants of the sterol recognition region of SHH cause hypertelorism phenotype rather than hypotelorism-holoprosencephaly. American journal of medical genetics. Part A 194 (8) (2024)
Mamiko Yamada, Seiji Mizuno, Mie Inaba, Tomoko Uehara, Hidehito Inagaki, Hisato Suzuki, Fuyuki Miya, Toshiki Takenouchi, Hiroki Kurahashi, Kenjiro Kosaki
Truncating variants of the sterol recognition region of SHH cause hypertelorism phenotype rather than hypotelorism-holoprosencephaly. American journal of medical genetics. Part A (2024)
Mamiko Yamada, Seiji Mizuno, Mie Inaba, Tomoko Uehara, Hidehito Inagaki, Hisato Suzuki, Fuyuki Miya, Toshiki Takenouchi, Hiroki Kurahashi, Kenjiro Kosaki
Truncating variants of the sterol recognition region of SHH cause hypertelorism phenotype rather than hypotelorism-holoprosencephaly. American journal of medical genetics. Part A 194 (8) (2024)
Yuri Murase, Yui Shichiri, Hidehito Inagaki, Tatsuya Nakano, Yoshiharu Nakaoka, Yoshiharu Morimoto, Tomoko Ichikawa, Haruki Nishizawa, Eiji Sugihara, Hiroki Kurahashi
Comparative Analysis of Two NGS-Based Platforms for Product-of-Conception Karyotyping. Genes 15 (8) (2024)
Yuri Murase, Yui Shichiri, Hidehito Inagaki, Tatsuya Nakano, Yoshiharu Nakaoka, Yoshiharu Morimoto, Tomoko Ichikawa, Haruki Nishizawa, Eiji Sugihara, Hiroki Kurahashi
Comparative Analysis of Two NGS-Based Platforms for Product-of-Conception Karyotyping. Genes 15 (8) (2024)
Mamiko Yamada, Seiji Mizuno, Mie Inaba, Tomoko Uehara, Hidehito Inagaki, Hisato Suzuki, Fuyuki Miya, Toshiki Takenouchi, Hiroki Kurahashi, Kenjiro Kosaki
Truncating variants of the sterol recognition region of SHH cause hypertelorism phenotype rather than hypotelorism-holoprosencephaly. American journal of medical genetics. Part A 194 (8) (2024)
Tasuku Mariya, Yui Shichiri, Takeshi Sugimoto, Rie Kawamura, Syunsuke Miyai, Hidehito Inagaki, Eiji Sugihara, Keiko Ikeda, Tsuyoshi Baba, Aki Ishikawa, Michiko Ammae, Yoshiharu Nakaoka, Tsuyoshi Saito, Akihiro Sakurai, Hiroki Kurahashi
Clinical application of long-read nanopore sequencing in a preimplantation genetic testing pre-clinical workup to identify the junction for complex Xq chromosome rearrangement-related disease. Prenatal diagnosis (2023)
Takeshi Sugimoto, Hidehito Inagaki, Tasuku Mariya, Rie Kawamura, Mariko Taniguchi-Ikeda, Seiji Mizuno, Yukako Muramatsu, Ikuya Tsuge, Hirofumi Ohashi, Nakamichi Saito, Yuiko Hasegawa, Nobuhiko Ochi, Masatoshi Yamaguchi, Jun Murotsuki, Hiroki Kurahashi
Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm. Human genetics (2023)
Tasuku Mariya, Yui Shichiri, Takeshi Sugimoto, Rie Kawamura, Syunsuke Miyai, Hidehito Inagaki, Eiji Sugihara, Keiko Ikeda, Tsuyoshi Baba, Aki Ishikawa, Michiko Ammae, Yoshiharu Nakaoka, Tsuyoshi Saito, Akihiro Sakurai, Hiroki Kurahashi
Clinical application of long-read nanopore sequencing in a preimplantation genetic testing pre-clinical workup to identify the junction for complex Xq chromosome rearrangement-related disease. Prenatal diagnosis 43 (3) (2023)
Tasuku Mariya, Yui Shichiri, Takeshi Sugimoto, Rie Kawamura, Syunsuke Miyai, Hidehito Inagaki, Eiji Sugihara, Keiko Ikeda, Tsuyoshi Baba, Aki Ishikawa, Michiko Ammae, Yoshiharu Nakaoka, Tsuyoshi Saito, Akihiro Sakurai, Hiroki Kurahashi
Clinical application of long-read nanopore sequencing in a preimplantation genetic testing pre-clinical workup to identify the junction for complex Xq chromosome rearrangement-related disease. Prenatal diagnosis 43 (3) (2023)
Tasuku Mariya, Yui Shichiri, Takeshi Sugimoto, Rie Kawamura, Syunsuke Miyai, Hidehito Inagaki, Eiji Sugihara, Keiko Ikeda, Tsuyoshi Baba, Aki Ishikawa, Michiko Ammae, Yoshiharu Nakaoka, Tsuyoshi Saito, Akihiro Sakurai, Hiroki Kurahashi
Clinical application of long-read nanopore sequencing in a preimplantation genetic testing pre-clinical workup to identify the junction for complex Xq chromosome rearrangement-related disease. Prenatal diagnosis 43 (3) (2023)
Tasuku Mariya, Yui Shichiri, Takeshi Sugimoto, Rie Kawamura, Syunsuke Miyai, Hidehito Inagaki, Eiji Sugihara, Keiko Ikeda, Tsuyoshi Baba, Aki Ishikawa, Michiko Ammae, Yoshiharu Nakaoka, Tsuyoshi Saito, Akihiro Sakurai, Hiroki Kurahashi
Clinical application of long-read nanopore sequencing in a preimplantation genetic testing pre-clinical workup to identify the junction for complex Xq chromosome rearrangement-related disease. Prenatal diagnosis (2023)
Tasuku Mariya, Yui Shichiri, Takeshi Sugimoto, Rie Kawamura, Syunsuke Miyai, Hidehito Inagaki, Eiji Sugihara, Keiko Ikeda, Tsuyoshi Baba, Aki Ishikawa, Michiko Ammae, Yoshiharu Nakaoka, Tsuyoshi Saito, Akihiro Sakurai, Hiroki Kurahashi
Clinical application of long-read nanopore sequencing in a preimplantation genetic testing pre-clinical workup to identify the junction for complex Xq chromosome rearrangement-related disease. Prenatal diagnosis 43 (3) (2023)
Takema Kato, Shunsuke Miyai, Hideki Suzuki, Yuuri Murase, Shiyo Ota, Hiroko Yamauchi, Michiko Ammae, Tatsuya Nakano, Yoshiharu Nakaoka, Tomoko Inoue, Yoshiharu Morimoto, Aisaku Fukuda, Takafumi Utsunomiya, Haruki Nishizawa, Hiroki Kurahashi
Usefulness of combined NGS and QF-PCR analysis for product of conception karyotyping. Reproductive medicine and biology 21 (1) (2022)
Miki Kawai, Atsuya Sugimoto, Yasunori Ishihara, Takema Kato, Hiroki Kurahashi
Incontinentia pigmenti inherited from a father with a low level atypical IKBKG deletion mosaicism: a case report. BMC pediatrics 22 (1) (2022)
Kaori Maruwaka, Yoko Nakajima, Takaharu Yamada, Taihei Tanaka, Rika Kosaki, Hidehito Inagaki, Kenjiro Kosaki, Hiroki Kurahashi
Two Japanese patients with Noonan syndrome-like disorder with loose anagen hair 2. American journal of medical genetics. Part A 188 (7) (2022)
Hidenobu Kaneyasu, Kazumasa Takahashi, Naoki Ohta, Seigo Okada, Sasagu Kimura, Shuichiro Yasuno, Susumu Murata, Shunsaku Katsura, Naoyuki Yamada, Koji Shiraishi, Junko Tsuda, Shunsuke Miyai, Hiroki Kurahashi, Shunji Hasegawa, Yutaka Shimomura
Novel compound heterozygous mutations in the PLEC gene in a neonate with epidermolysis bullosa simplex with pyloric atresia. The Journal of dermatology (2022)
Yui Shichiri, Yoshimi Kato, Hidehito Inagaki, Takema Kato, Naoko Ishihara, Masafumi Miyata, Hiroko Boda, Arisa Kojima, Misa Miyake, Hiroki Kurahashi
A case of 46,XY disorders of sex development with congenital heart disease caused by a GATA4 variant. Congenital anomalies 62 (5) (2022)
Sarantuya Enkhjargal, Kana Sugahara, Behnoush Khaledian, Miwako Nagasaka, Hidehito Inagaki, Hiroki Kurahashi, Hisatsugu Koshimizu, Tatsushi Toda, Mariko Taniguchi-Ikeda
Antisense oligonucleotide induced pseudoexon skipping and restoration of functional protein for Fukuyama muscular dystrophy caused by a deep-intronic variant. Human molecular genetics (2022)
Keiko Shibata, Makoto Kunisada, Shunsuke Miyai, Shigeki Kawamori, Hiroki Kurahashi, Chikako Nishigori
Incontinentia pigmenti in a female infant with somatic mosaicism due to the IKBKG variant. The Journal of dermatology 48 (12) (2021)
Makiko Tsutsumi, Hiroki Miura, Hidehito Inagaki, Yasuko Shinkai, Asuka Kato, Takema Kato, Susumu Hamada-Tsutsumi, Makito Tanaka, Kazuko Kudo, Tetsushi Yoshikawa, Hiroki Kurahashi
An aggressive systemic mastocytosis preceded by ovarian dysgerminoma. BMC cancer 20 (1) (2020)
Maki Kato, Akiko Yagami, Tetsuya Tsukamoto, Yasuko Shinkai, Takema Kato, Hiroki Kurahashi
Novel mutation in the KITLG gene in familial progressive hyperpigmentation with or without hypopigmentation. The Journal of dermatology 47 (6) (2020)
Miki Kawai, Takema Kato, Makiko Tsutsumi, Yasuko Shinkai, Hidehito Inagaki, Hiroki Kurahashi
Molecular analysis of low-level mosaicism of the IKBKG mutation using the X Chromosome Inactivation pattern in Incontinentia Pigmenti. Molecular genetics & genomic medicine 8 (12) (2020)
Makiko Tsutsumi, Hiroyoshi Hattori, Nobuhiro Akita, Naoko Maeda, Toshinobu Kubota, Keizo Horibe, Naoko Fujita, Miki Kawai, Yasuko Shinkai, Maki Kato, Takema Kato, Rie Kawamura, Fumihiko Suzuki, Hiroki Kurahashi
A female patient with retinoblastoma and severe intellectual disability carrying an X;13 balanced translocation without rearrangement in the RB1 gene: a case report. BMC medical genomics 12 (1) (2019)
Masaya Kibe, Satoshi Ibara, Hidehito Inagaki, Takema Kato, Hiroki Kurahashi, Toshiro Ikeda
Lethal persistent pulmonary hypertension of the newborn in Bohring-Opitz syndrome. American journal of medical genetics. Part A 176 (5) (2019)
Katsuyuki Yokoi, Yoko Nakajima, Hidehito Inagaki, Makiko Tsutsumi, Tetsuya Ito, Hiroki Kurahashi
Exonic duplication of the OTC gene by a complex rearrangement that likely occurred via a replication-based mechanism: a case report. BMC medical genetics 19 (1) (2018)