Publications by authors named "Yoichi Matsubara"

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Functional analysis of novel and recurrent RINT1 variants in patients with infantile liver dysfunction.
Taiga Aoki, Ayano Inui, Yoshiyasu Ogata, Arisa Igarashi, Kumiko Yanagi, Yoichi Matsubara

J Hum Genet· January 2026

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Prenatal diagnosis of fetal brain asymmetry with normal amniotic fluid genetic testing: a somatic variant in the brain.
Ritsuko Kimata Pooh, Kyoko Itoh, Masayuki Endo, Hirotsugu Fukuda, Masayoshi Takeda, Yoichi Matsubara

Am J Obstet Gynecol· December 2025

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JAK1 gain-of-function variant causes alopecia areata, atopic dermatitis, and autoimmune thyroid disease.
Satoshi Fujita, Shigenori Kabashima, Kumiko Yanagi, Kenji Toyokuni, Kazue Yoshida, Yoichi Matsubara

J Allergy Clin Immunol· December 2025

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The fetal brain neurosonography in trisomy 21: the seagull sign and thinned subplate.
Ritsuko K Pooh, Megumi Machida, Kohtaro Uenishi, Enoch Q S Barreto, Isabella Yi Man Wah, Yoichi Matsubara

Am J Obstet Gynecol· October 2025

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Missense and truncated variants in ERF in individuals with a Noonan-like phenotype without craniosynostosis.
Yusuke Goto, Tetsuya Niihori, Seiji Mizuno, Nobuhiko Okamoto, Tsutomu Ogata, Yoichi Matsubara

Sci Rep· April 2025

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First-in-human clinical study of an embryonic stem cell product for urea cycle disorders.
Akihiro Umezawa, Akinari Fukuda, Reiko Horikawa, Hajime Uchida, Shin Enosawa, Yoichi Matsubara

Stem Cell Res Ther· March 2025

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Genetically humanized phenylketonuria mouse model as a testing tool for human genome editing in fertilized eggs.
Atsumi Tsuji-Hosokawa, Iku Tsuchiya, Kie Shimizu, Miho Terao, Mito Yasuhara, Yoichi Matsubara

J Inherit Metab Dis· January 2025

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A novel homozygous variant of the PIGK gene caused by paternal disomy in a patient with neurodevelopmental disorder, cerebellar atrophy, and seizures.
Kenichiro Sadamitsu, Kumiko Yanagi, Yuiko Hasegawa, Yoshiko Murakami, Sean E Low, Yoichi Matsubara

J Hum Genet· November 2024

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Mutations of CYP1B1 and FOXC1 genes for childhood glaucoma in Japanese individuals.
Nobuo Fuse, Masae Kimura, Ai Shimizu, Seizo Koshiba, Teruhiko Hamanaka, Yoichi Matsubara

Jpn J Ophthalmol· November 2024

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Functional analysis of pathogenic variants with a Noonan-like phenotype.
Takaya Iida, Arisa Igarashi, Kae Fukunaga, Taiga Aoki, Tomomi Hidai, Yoichi Matsubara

Front Genet· March 2024

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Exploring the genetic diversity of the Japanese population: Insights from a large-scale whole genome sequencing analysis.
Yosuke Kawai, Yusuke Watanabe, Yosuke Omae, Reiko Miyahara, Seik-Soon Khor, Yoichi Matsubara

PLoS Genet· December 2023

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Biallelic CC2D2A variants, SNV and LINE-1 insertion simultaneously identified in siblings using long-read whole-genome sequencing and haplotype phasing.
Kumiko Yanagi, Jonathan Coker, Kaori Miyana, Seijiro Aso, Nana Kobayashi, Yoichi Matsubara

J Hum Genet· June 2023

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STAT6 gain-of-function variant exacerbates multiple allergic symptoms.
Ichiro Takeuchi, Kumiko Yanagi, Shuji Takada, Toru Uchiyama, Arisa Igarashi, Yoichi Matsubara

J Allergy Clin Immunol· May 2023

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Six years' accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures.
Yuji Takahashi, Hidetoshi Date, Hideki Oi, Takeya Adachi, Noriaki Imanishi, Yoichi Matsubara

J Hum Genet· September 2022

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Heterozygous calcyclin-binding protein/Siah1-interacting protein (CACYBP/SIP) gene pathogenic variant linked to a dominant family with paucity of interlobular bile duct.
Miyako Kanno, Mitsuyoshi Suzuki, Ken Tanikawa, Chikahiko Numakura, Shu-Ichi Matsuzawa, Yoichi Matsubara

J Hum Genet· July 2022

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A novel missense variant of the GNAI3 gene and recognisable morphological characteristics of the mandibula in ARCND1.
Kumiko Yanagi, Noriko Morimoto, Manami Iso, Yukimi Abe, Kohji Okamura, Yoichi Matsubara

J Hum Genet· October 2021

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Guide for diagnosis and treatment of hyperphenylalaninemia.
Haruo Shintaku, Toshihiro Ohura, Masaki Takayanagi, Shigeo Kure, Misao Owada, Yoichi Matsubara

Pediatr Int· January 2021

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Premature aging syndrome showing random chromosome number instabilities with CDC20 mutation.
Harumi Fujita, Takashi Sasaki, Tatsuo Miyamoto, Silvia Natsuko Akutsu, Showbu Sato, Yoichi Matsubara

Aging Cell· November 2020

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A novel EFTUD2 mutation identified an adult male with mandibulofacial dysostosis Guion-Almeida type.
Yoko Narumi-Kishimoto, Hiroshi Ozawa, Kumiko Yanagi, Tomoko Kawai, Koji Okamura, Yoichi Matsubara

Clin Dysmorphol· October 2020

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Research and Development Strategy for Future Embryonic Stem Cell-Based Therapy in Japan.
Akihiro Umezawa, Yoji Sato, Shinji Kusakawa, Rin Amagase, Hidenori Akutsu, Yoichi Matsubara

JMA J· October 2020

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Epidermodysplasia verruciformis without progression to squamous cell carcinomas in an elderly man: α-human papillomavirus infection in the evolving verruca.
Naoki Oiso, Akiharu Kubo, Akira Shimizu, Hisato Suzuki, Kenjiro Kosaki, Yoichi Matsubara

Int J Dermatol· September 2020

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Long-term efficacy and safety of two doses of Norditropin (somatropin) in Noonan syndrome: a 4-year randomized, double-blind, multicenter trial in Japanese patients.
Reiko Horikawa, Tsutomu Ogata, Yoichi Matsubara, Susumu Yokoya, Yoshihisa Ogawa

Endocr J· August 2020

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X-linked inhibitor of apoptosis protein deficiency complicated with Crohn's disease-like enterocolitis and Takayasu arteritis: A case report.
Ichiro Takeuchi, Toshinao Kawai, Meika Nambu, Ohsuke Migita, Satoshi Yoshimura, Yoichi Matsubara

Clin Immunol· August 2020

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Variants That Affect Function of Calcium Channel TRPV6 Are Associated With Early-Onset Chronic Pancreatitis.
Atsushi Masamune, Hiroshi Kotani, Franziska Lena Sörgel, Jian-Min Chen, Shin Hamada, Yoichi Matsubara

Gastroenterology· May 2020

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Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndrome.
Yoichiro Oda, Yuri Uchiyama, Ai Motomura, Atsushi Fujita, Yoshiteru Azuma, Yoichi Matsubara

J Hum Genet· October 2019

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