Publications by authors named "Kumiko Yanagi"

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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

J Hum Genet· January 2026

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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

J Allergy Clin Immunol· December 2025

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The p.L218P variant in WDR83 disrupts neuronal development, leading to neurodevelopmental disorder.
Hidenori Tabata, Yuiko Hasegawa, Kumiko Yanagi, Ryota Sugawara, Hidenori Ito

Sci Rep· December 2025

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A Clinical Study of Nine Patients With ReNU Syndrome.
Nobuhiko Okamoto, Eriko Nishi, Yuiko Hasegawa, Shinji Higuchi, Ichiro Kuki, Kumiko Yanagi

Am J Med Genet A· November 2025

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[Mechanism of pathogenesis by a gain-of-function variant of STAT6 causing severe allergic diseases and potential for development of molecularly targeted drugs].
Kumiko Yanagi, Tadashi Kaname

Nihon Yakurigaku Zasshi· July 2025

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Clinical Features of a Japanese Girl With Radio-Tartaglia Syndrome due to a SPEN Truncating Variant.
Eriko Nishi, Kumiko Yanagi, Nobuhiko Okamoto, Tadashi Kaname

Am J Med Genet A· March 2025

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Siblings of hyaline fibromatosis syndrome with accumulation of sulfatide and G ganglioside in addition to ceramide.
Takehisa Fujiwaki, Hiroyuki Awano, Koji Inui, Junko Matsuda, Keiji Kondoh, Kumiko Yanagi

Pediatr Int· January 2025

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Novel biallelic GNE variants identified in a patient with chronic thrombocytopenia without any symptoms of myopathy.
Shota Tsuda, Atsushi Sakamoto, Hiroyuki Kawaguchi, Toru Uchiyama, Tadashi Kaname, Kumiko Yanagi

Ann Hematol· December 2024

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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

J Hum Genet· November 2024

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Case Report: An Adult Case of Poretti-Boltshauser Syndrome Diagnosed by Medical Checkup.
Kensuke Ikeda, Ayane Tamagake, Takafumi Kubota, Rumiko Izumi, Tatsuo Yamaguchi, Kumiko Yanagi

Cerebellum· October 2024

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Biallelic loss-of-function variants of EZH1 cause a novel developmental disorder with central precocious puberty.
Nobuhiko Okamoto, Sayaka Yoshida, Ayako Ogitani, Yuri Etani, Kumiko Yanagi

Am J Med Genet A· October 2024

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Renal coloboma syndrome/dominant optic atrophy with severe retinal atrophy and de novo digenic mutations in PAX2 and OPA1.
Wataru Shimabukuro, Yasutsugu Chinen, Naoya Imanaga, Kumiko Yanagi, Tadashi Kaname

Pediatr Nephrol· August 2024

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Biallelic variants in LARS1 induce steatosis in developing zebrafish liver via enhanced autophagy.
Masanori Inoue, Wulan Apridita Sebastian, Shota Sonoda, Hiroaki Miyahara, Nobuyuki Shimizu, Kumiko Yanagi

Orphanet J Rare Dis· May 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, Kumiko Yanagi

Front Genet· March 2024

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Clinical details of individuals with Rauch-Steindl syndrome due to NSD2 truncating variants.
Eriko Nishi, Kumiko Yanagi, Tadashi Kaname, Nobuhiko Okamoto

Mol Genet Genomic Med· February 2024

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Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation DNA sequencing.
Atsushi Hijikata, Mikita Suyama, Shingo Kikugawa, Ryo Matoba, Takuya Naruto, Kumiko Yanagi

Nucleic Acids Res· January 2024

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A novel DLG4 variant causes DLG4-related synaptopathy with intellectual regression.
Sachi Tokunaga, Hideki Shimomura, Naoko Taniguchi, Kumiko Yanagi, Tadashi Kaname

Hum Genome Var· January 2024

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Clinical characteristics of muscle cramps in hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome associated with a novel COL4A1 pathogenic variant: A family case study.
Shunsuke Haga, Ryo Takeguchi, Ryosuke Tanaka, Akira Satake, Yoshio Makita, Kumiko Yanagi

Brain Dev· August 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

J Hum Genet· June 2023

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A novel HECW2 variant in an infant with congenital long QT syndrome.
Rina Imanishi, Kouichi Nakau, Sorachi Shimada, Hideharu Oka, Ryo Takeguchi, Kumiko Yanagi

Hum Genome Var· 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

J Allergy Clin Immunol· May 2023

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Splenectomy as an effective treatment for macrothrombocytopenia in Takenouchi-Kosaki syndrome.
Shio Yamano, Akihiro Iguchi, Kotaro Ishikawa, Atsushi Sakamoto, Toru Uchiyama, Kumiko Yanagi

Int J Hematol· April 2023

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HIST1H1E syndrome with deficiency in multiple pituitary hormones.
Yuko Tanabe, Naohiro Nomura, Miki Minami, Junji Takaya, Nobuhiko Okamoto, Kumiko Yanagi

Clin Pediatr Endocrinol· March 2023

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GRIA3 p.Met661Thr variant in a female with developmental epileptic encephalopathy.
Satomi Okano, Yoshio Makita, Akie Miyamoto, Genya Taketazu, Kayano Kimura, Kumiko Yanagi

Hum Genome Var· February 2023

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Wide Spectrum of Cardiac Phenotype in Myofibrillar Myopathy Associated With a Bcl-2-Associated Athanogene 3 Mutation: A Case Report and Literature Review.
Yuichi Akaba, Ryo Takeguchi, Ryosuke Tanaka, Yoshio Makita, Takashi Kimura, Kumiko Yanagi

J Clin Neuromuscul Dis· September 2022

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