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ゲノム医療研究部

研究部紹介

2015年4月に新設された本研究部は、最先端のゲノム解析機器と手法や人工知能を駆使して、未だ解明されていない様々な希少難病の病因関連遺伝子や分子病態を明らかにし、その研究成果の臨床応用を行います。また、新しい解析技術の開発を行います。さらに、種々の成育疾患の発症に関与する遺伝要因をもとに、未来の予測医療・予防医療につなげていくことに取り組みます。

研究内容

成育関連疾患の発症には遺伝的要因が大きく関与しており、その中でも希少疾患の多くは遺伝性疾患（遺伝子関連疾患）と考えられています。現在、7,000種類を超す遺伝性疾患が知られていますが、うち約1/3は原因となる遺伝子が判明していません。各疾患の診断・治療・予防法の開発には、まずその原因を明らかにし、疾患発症のメカニズムを詳細に検討する必要があります。次世代シークエンサーをはじめとする最先端の遺伝子解析機器の開発や、ゲノムワイド関連解析などのゲノム解析手法の進展、人工知能の活用によって、これまで病因不明であった様々な疾患の本態が明らかにされつつあります。
ゲノム医療研究部では、成育医療研究センターの病院および全国の医療機関から解析を依頼される診断のつかない様々な希少疾患・難病を対象として新たな病因遺伝子の探索を行い、疾患発症機構等の解明を目指します。また、最先端のゲノム解析研究成果に基づく遺伝子診断の臨床応用や日本人集団における遺伝子バリアント（変異）データベースの整備を行います。さらには、ゲノム解析データに基づいて将来の疾患発症予測や発症予防、早期治療へつなげるための研究を進めていきます。
また、本研究部は成育医療研究センターのバイオバンクと連携しながら、国立高度専門医療研究センターを中心とするメディカルゲノムセンターの一員としてゲノム研究成果の臨床応用を図っていきます。

IRUD-P

IRUD-P（アイラッド　ピー）は、 Initiative on Rare and ndiagnosed Diseases in Pediatrics　の頭文字を取った略号で「小児希少・未診断疾患イニシアチブ」といいます。これは、原因や診断がわからない小児の患者さんについて、最先端の機器を駆使してDNA（ディーエヌエー）を調べ、原因や診断の手がかりを探す全国規模の研究プロジェクトです。現在は、IRUDとして成人の患者さんについても解析を進めています。

難病のゲノム医療実現に向けた全ゲノム解析の実施基盤の構築と実践（難病の全ゲノム解析研究）

政府の「全ゲノム解析等実行計画」に従い開始された、全ゲノム解析研究を行う全国プロジェクトです（AMED國土班）。この研究プロジェクトの一員として、全国の診断困難、未解決の希少疾患、難病の患者さんの詳細な臨床情報と全ゲノム解析（ロングリード解析を含む）を行い、原因を明らかにしてその結果を、主治医を通じて患者さんに還元します。同時に、国内の難病ゲノムデータベース構築に貢献しています。

スタッフ

ゲノム医療研究部

要 匡（部長）

臨床応用ゲノム研究室

柳 久美子（室長）

成育疾患ゲノム研究室

黒木 陽子（室長）

部室員

五十嵐 ありさ（研究員）
榎本 友美（研究員）
吉田 奈摘（研究員）
佐藤 正宏（共同研究員）
飯田 貴也（共同研究員）
青木 大芽（共同研究員）
島田 姿野（共同研究員）
荒川 玲子（共同研究員）

阿部 幸美
小林 奈々
金子 加奈子
磯部 未紀
塚本 元子
黒松 直子
大野 紗矢香
竹内 真理子

業績

2026～

  1. Aoki T, Inui A, Ogata Y, Igarashi A, Yanagi K, Yamamori M, Iida T, Inoue YH, Matsubara Y, Kaname T. Functional Analysis of Novel and Recurrent RINT1 Variants in Patients with Infantile Liver Dysfunction. (2026). J Hum Genet, 71(1):23-34. doi: 10.1038/s10038-025-01404-3.
  2. Tanikawa W, Okamoto S, Ohara O, Masunaga Y, Yamoto K, Fujisawa Y, Ohyama I, Saitsu H, Fukami M, Kaname T, Ogata T. Comprehensive Molecular Studies in 88 Japanese Patients With Congenital Hypogonadotropic Hypogonadism. (2026). J Clin Endocrinol Metab, 111(4):1147-1158. doi: 10.1210/clinem/dgaf548
  3. Sumitomo H, Akiyama T, Kaname T, Takenouchi T. Giant choledochal cyst in a child with spinocerebellar ataxia: A potential molecular link through aberrant cytosolic calcium signaling. (2026). Am J Med Genet A, 200(3):761-763. doi: 10.1002/ajmg.a.64296.
  4. Nishi E, Yanagi K, Shima M, Yamazaki N, Kawato K, Narita A, Sakai N, Okamoto N, Yanagihara K, Kaname T. First Reported Case of CLN5 Disease in Japan: Identification of a Novel Homozygous Pathogenic Variant through Whole Genome Sequencing. (2026). Clin Case Rep, 14(1):e71739. 10.1002/ccr3.71739.
  5. Shirai H, Oitani Y, Nishi E, Haraguchi K, Nakamura T, Ichinose F, Sanefuji M, Hattori A, Yanagi K, Shimojima Yamamoto K, Okamoto N, Matsuo M, Saitoh S, Yoshiura KI, Kaname T, Yamamoto T. Clinical and molecular profiles of patients with Xia-Gibbs syndrome: a cohort in Japan. (2026). Brain Dev, 48(2):104509. doi: 10.1016/j.braindev.2026.104509
  6. Nishijo T, Yanagi K, Hamada N, Nakamura S, Chinen Y, Fukuhara Y, Iwamoto I, Kaname T, Okamoto N, Nagata KI. CTBP1 in brain development: a novel variant c.107G>C,p.(R36P) leads to a distinct neurodevelopmental disorder. (2026). J Neurochem, 170(2):e70385. doi: 10.1111/jnc.70385.
  7. Uraki R, Yamamoto M, Miura N, Irie M, Uemura T, Nakashima J, Araki M, Matsushita K, Kaname T, Fujieda M. An autopsy case of Beare-Stevenson cutis gyrata syndrome presenting with an extremely short small intestine. (2026). Intern Med, doi: 10.2169/internalmedicine.6223-25. in press.
  8. Miura M, Kobayashi Y, Hojo M, Yamada K, Fujii H, Eimori K, Yanagi K, Kaname T, Nagasaki K, Nyuzuki H, Ikeuchi T, Tohyama J. Camptodactyly and early-onset scoliosis in Snijders Blok-Campeau syndrome. (2026). Case Rep Genet, 2026:9968980. doi: 10.1155/crig/9968980.
  9. Yamamura-Miyazaki N, Michigami T, Okamoto N, Iida T, Yanagi K, Kaname T, Fukuda S, Baba M, Fujiwara K, Kubota T. Pierson syndrome with numerous dilated tubules masquerading as autosomal recessive polycystic kidney disease: A case report. (2026). CEN Case Rep, 15(3):71. doi: 10.1007/s13730-026-01105-6.
  10. Kaname T. Undiagnosed rare diseases and glycan-related disorders. (2026). Glycoscience: A Global Roadmap 2025 from Japan. 2nd (eds. Nishihara S, Hirabayashi J) 359-362. Springer Nature, Singapore, 2026.
  11. Nishi E, Yanagi K, Kaname T, Okamoto N. Clinical and genetic findings in two Japanese individuals with SET-related neurodevelopmental disorder. (2026). Cong Anomal, 66(1):e70063. doi: 10.1002/cga.70063.
  12. 要 匡: AIとビッグデータが拓く希少疾患の新たな診断支援　2026年　医学のあゆみ　296(10):912-917.
  13. 要 匡: AIとともに育つ医療―小児医療の新しいかたち AIの専門分野での具体的取り組みと将来 遺伝・ゲノム分野（希少疾患）2026年　小児内科　58(3):272-275.

2025

  1. Yamada N, Sakamoto A, Nagoshi R, Endo S, Yamamoto M, Saito S, Yamada Y, Uchiyama T, Yanagi K, Kaname T, Kunishima S, Ishiguro A. CYCS-related thrombocytopenia in three Japanese families with a novel variant in one family. (2025). Int J Hematol, 123(4):611-616. doi: 10.1007/s12185-025-04145-3.
  2. Tabata H, Hasegawa Y, Yanagi K, Sgawara R, Ito H, Nishi E, Kaname T*, Okamoto N*, Nagata KI*. The p.L218P variant in WDR83 disrupts neuronal development, leading to neurodevelopmental disorder. (2025). Sci Rep, 16(1):2213. doi: 10.1038/s41598-025-31794-5.
  3. Yazaki S, Kitadai R, Momozawa Y, Yoshida T, Yamanaka T, Shiino S, Yamauchi C, Harano K, Saito M, Hirotsu Y, Aiba H, Hamamoto R, Shimizu C, Shimomura A, Shimoi T, Sudo K, Yoshida M, Sunami K, Shiraishi Y, Kuchiba A, Hori M, Katanoda K, Takata S, Ogawa A, Torasawa M, Mochizuki A, Shimada Y, Hiranuma K, Fujii E, Hirata M, Yamashita Y, Kogawa T, Murata T, Fujiwara S, Miyagi Y, Nakagomi H, Tachibana K, Matsuda K, Murakami Y, Tokunaga K, Kawai Y; NCBN Controls WGS Consortium (Kaname T); Project BJ, Omata M, Ohtake T, Suto A, Onishi T, Naito Y, Yamashita T, Yonemori K, Kohno T, Shiraishi K. Germline variants of the POLH and RAD51 genes are candidate variants associated with risk of hormone receptor-negative young-onset breast cancer. (2025). npj Breast Cancer, 11(1):133. doi: 10.1038/s41523-025-00848-2.
  4. Kawai T, Aoki T, Nakabayashi K, Hata K, Kaname T, Kosaki R. DNA Methylation Data from Japanese Patients with Rubinstein-Taybi Syndrome. (2025). Hum Genome Var, 12(1):27. doi: 10.1038/s41439-025-00332-0.
  5. Takeguchi R, Makita Y, Haga S, Fukuda I, Miyamoto A, Tanaka H, Aoki T, Iida T, Yanagi K, Kaname T, Takahashi S. Clinical characteristics for early diagnosis of PACS1 neurodevelopmental disorder: Two case reports. (2025). Brain Dev Case Rep, 3(4):100111. Doi. 10.1016/j.bdcasr.2025.100111.
  6. Fujita S, Kabashima S, Yanagi K, Toyokuni K, Yoshida K, Miyaji Y, Takada S, Motomura K, Tamari M, Nakazaki H, Hayashi Y, Nagano N, Oishi K, Yokoya S, Uchiyama T, Yoshioka T, Tanase-Nakao K, Yamamoto-Hanada K, Fukuie T, Horikawa R, Saito H, Matsubara Y, Ohya Y, Kaname T, Matsumoto K, Morita H. JAK1 gain-of-function variant causes alopecia areata, atopic dermatitis, and autoimmune thyroid disease. (2025). J Allergy Clin Immunol, 156(6):1769-1771. doi: 10.1016/j.jaci.2025.09.012.
  7. Sakamoto A, Uchiyama T, Tanimura K, Fujisaki H, Iguchi A, Kaname T, Ishiguro A. Coexisting Genetic Abnormalities and Thrombocytopenia. (2025). Lancet Haematol, 12(11):e926. doi: 10.1016/S2352-3026(25)00255-8.
  8. Sakamoto A, Uchiyama T, Nakabayashi K, Shimada A, Shimonodan H, Kojima H, Yamamoto M, Keino D, Anan T, Nakamura K, Sato A, Ohara O, Kaname T, Yasuda T, Iguchi A, Ito S, Kunishima S, Ishiguro A. Differential transcript level of ANKRD26 and clinical phenotype among the ANKRD26 variants in the Japanese registry for congenital thrombocytopenia. (2025). Br J Haematol, 207(6):2404-2416. doi: 10.1111/bjh.70169. PMID: 40954090.
  9. Fujiwaki T, Awano H, Inui K, Matsuda J, Kondoh K, Yanagi K, Kaname T. Siblings of hyaline fibromatosis syndrome with accumulation of sulfatide and GM3 ganglioside in addition to ceramide. (2025). Pediatr Int, 67(1):e70246. doi: 10.1111/ped.70246.
  10. Itoh K, Kurogochi M, Kaname T, Furukawa J-I, Nishihara S. Neuromuscular Defects in a Drosophila Model of the Congenital Disorder of Glycosylation SLC35A2-CDG. (2025). Biomolecules, 15(9):1256. doi: 10.3390/biom15091256.
  11. Igarashi A, Makita Y, Kobayashi N, Abe Y, Aoki T, Iida T, Yamamori M, Yanagi K, Sato K, Sato M, Matsubara Y, Kaname T. Novel biallelic splicing and deletion variants of ADAMTS3 found in adult patients with Hennekam lymphangiectasia-lymphedema syndrome 3. (2025). BMJ Connect Clin Genet Genom, 2:e000006. doi:10.1136/bmjccgg-2024-000006.
  12. Ohno S, Manabe N, Kaname T, Nishihara N, Yamaguchi Y. VarMeter: a prediction method for the impact of glycogene variants. (2025). J Hum Genet, doi: 10.1038/s10038-025-01364-8.
  13. Iida T, Miura K, Okamoto T, Fujinaga S, Akioka Y, Takeshima Y, Urushihara M, Hisano M, Gotoh Y, Ohta T, Takaya E, Miyauchi CM, Sonobe S, Kaname T, Hattori M. Machine learning using serial changes in proteinuria during initial steroid therapy to predict treatment response and immunosuppressant use in pediatric idiopathic nephrotic syndrome. (2025). Clin Exp Nephrol, 29(11):1618-1626. doi: 10.1007/s10157-025-02714-8.
  14. Okamoto N, Nishi E, Hasegawa Y, Higuchi S, Kuki I, Yanagi K, Kaname T, Uchiyama Y, Matsumoto N. A clinical study of nine patients with ReNU syndrome. (2025). Am J Med Genet A, 197(11):e64151. doi: 10.1002/ajmg.a.64151.
  15. Nagura Y, Shimada M, Kuribayashi R, Kiyose H, Igarashi A, Kaname T, Unoki M, Fujimoto A. Long-read sequencing reveals novel isoform-specific eQTLs and regulatory mechanisms of isoform expression in human B-cells. (2025). Genome Biol, 26(1):110. doi: 10.1186/s13059-025-03583-w.
  16. Ohno S, Ogura C, Yabuki A, Itoh K, Manabe N, Angata K, Togayachi A, Aoki-Kinoshita K, Furukawa J-i, Inamori K-i, Inokuchi J-I, Kaname T*, Nishihara S*, Yamaguchi Y*. VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance. (2025). Comput Struct Biotechnol J, 27:1034-1047. doi: 10.1016/j.csbj.2025.02.008.
  17. Nishi E, Yanagi K, Okamoto N, Kaname T. Clinical features of a Japanese girl with Radio-Tartaglia syndrome due to a SPEN truncating variant. (2025). Am J Med Genet A, 197(3):e63910. doi: 10.1002/ajmg.a.63910.
  18. Morohoshi K, Ohba M, Sato M, Nakamura S. A Simple and Safe Protocol for Intra-Testicular Gene Delivery in Neonatal Mice Using a Convenient Isoflurane-Based Anesthesia System. (2025). BioTech, 14(4):81. doi: 10.3390/biotech14040081.
  19. Kaname T: Chapter 87: Undiagnosed rare diseases and glycan-related disorders. (2025). Glycoscience: Bridging Applications and Foundations -Roadmap 2025 from the Japan Consortium for Glycobiology and Glycotechnology (JCGG). Springer Nature, in press.
  20. Nishi E, Yanagi K, Shima M, Yamazaki N, Kawato K, Narita A, Sakai N, Okamoto N, Yanagihara K, Kaname T. First Reported Case of CLN5 Disease in Japan: Identification of a Novel Homozygous Pathogenic Variant through Whole Genome Sequencing. (2025). Clin Case Rep, 14(1): e71739. doi/10.1002/ccr3.71739
  21. 三浦崇徳、水本洋、阿水利沙、園田真理、遠藤耕介、要 匡： 迅速網羅的遺伝子解析により診断したACTG2 Visceral Myopathy の１例 日本周産期・新生児会誌 60(1):180-184. doi: org/10.34456/jjspnm.61.1_180.
  22. 要 匡： 2-40 [先天性糖鎖異常症] 未診断希少疾患と糖鎖関連異常症． 2025年 日本糖鎖科学コンソーシアム（JCGG）（編） 未来を創るグライコサイエンス --我が国のロードマップ2025-- 166-169.
  23. 柳久美子、要 匡 ：重篤アレルギー患者の原因となるSTAT6機能獲得バリアントの同定，発症機序の解析と分子標的薬開発の可能性．(2025). 日薬理誌 (Folia Pharmacol. Jpn.) 160(4):244-249. doi: 10.1254/fpj.25008

2024

  1. Tsuda S, Sakamoto A, Kawaguchi H, Uchiyama T, Kaname T, Yanagi K, Kunishima S, Ishiguro A. Novel biallelic GNE variants identified in a patient with chronic thrombocytopenia without any symptoms of myopathy. (2024). Ann Hematol, 103:5945-5950. doi: 10.1007/s00277-024-06104-0.
  2. Suga A, Mizobuchi K, Inooka T, Yoshitake K, Minematsu N, Tsunoda K, Kuniyoshi K, Kawai Y, Omae Y, Tokunaga K; NCBN Controls WGS Consortium (Kaname T); Hayashi T, Ueno S, Iwata T. A homozygous structural variant of RPGRIP1 is frequently associated with achromatopsia in Japanese patients with IRD. (2024). Genet Med Open, 2:101843. doi: 10.1016/j.gimo.2024.101843.
  3. Hamanaka S, Uchiyama T, Kaname T, Matsui M, Yoshihashi H, Makimoto A, Yuza Y, Ishiguro A. X-linked thrombocytopenia with normal Wiskott-Aldrich syndrome protein (WASp) expression in lymphocytes and a novel WAS gene variant: A case report and brief review of the literature. (2024). J Pediatr Clin Pract, 14:200128. doi: 10.1016/j.jpedcp.2024.200128.
  4. Imai T, Mitsuhashi S, Isahaya K, Shibata S, Kawai Y, Omae Y, Tokunaga K; NCBN Controls WGS Consortium (Kaname T); Yamano Y. Wilson disease (novel ATP7B variants) with concomitant FLNC-related cardiomyopathy. (2024). Hum Genome Var, 11(1):34. doi: 10.1038/s41439-024-00283-y.
  5. Kamatani Y, Kaname T. Artificial intelligence in medical genomics. (2024). J Hum Genet, 69(10):475. doi: 10.1038/s10038-024-01282-1.
  6. Sakamoto A, Uchiyama T, Futatsugi R, Ohara O, Iguchi A, Kaname T, Hikosaka M, Ono H, Kunishima S, Ishiguro A. Platelet changes and bleeding symptoms in children, adolescents, and adults with 22q11.2 deletion syndrome. (2024). Pediatr Blood Cancer, 71(11):e31292. doi: 10.1002/pbc.31292.
  7. Orimo K, Mitsui J, Matsukawa T, Tanaka M, Nomoto J, Ishiura H, Omae Y, Kawai K, Tokunaga K; NCBN Controls WGS Consortium (Kaname T); Toda T, Tsuji S. Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome. (2024). J Hum Genet, 69(12):613-621. doi: 10.1038/s10038-024-01266-1.
  8. Inamori KI, Nakamura K, Shishido F, Hsu J-C, Nagafuku M, Nitta T, Ikeda J, Yoshimura H, Kodaira M, Tsuchida N, Matsumoto N, Uemura S, Ohno S, Manabe N, Yamaguchi Y, Togayachi A, Aoki-Kinoshita KF, Nishihara S, Furukawa JI, Kaname T, Nakamura M, Shimohata T, Tadaka S, Shirota M, Kinoshita K, Nakamura Y, Ohno I, Sekijima Y, Inokuchi JI. Functional evaluation of novel variants of B4GALNT1 in a patient with hereditary spastic paraplegia and the general population. (2024). Front Neurosci, 18:1437668. doi: 10.3389/fnins.2024.1437668.
  9. Naito T, Osaka R, Kakuta Y, Kawai Y, Khor SS, Umeno J, Tokunaga K; NCBN Controls WGS Consortium (Kaname T); Nagai H, Shimoyama Y, Moroi R, Shiga H, Nagasaki M, Kinouchi Y, Masamune A. Genetically predicted higher levels of caffeic acid are protective against ulcerative colitis: A comprehensive Metabolome Analysis. Inflamm Bowel Dis, 30(12):2440-2448. doi: 10.1093/ibd/izae143.
  10. Watanabe A, Wang L, Tan TK, Urayama KY, Kizuki T, Komatsu C, Kagami K, Shinohara T, Kasai S, Tamai M, Harama D, Akahane K, Goi K, Goto H, Satou K, Kaname T, Sanda T, Inukai T. Acquired copy number amplification at the MYC enhancer in human B-precursor acute lymphoblastic leukemia cell lines. (2024). Cancer Sci, 115(9):3196-3199. doi: 10.1111/cas.16260.
  11. Sadamitsu K, Yanagi K, Hasegawa Y, Murakami Y, Low SE, Ooshima D, Matsubara Y, Okamoto N, Kaname K#, Hiromi Hirata H#. A novel homozygous variant of the PIGK gene caused by paternal disomy in a patient with neurodevelopmental disorder, cerebellar atrophy, and seizures. (2024). J Hum Genet, 69(11):553-563. doi: 10.1038/s10038-024-01264-3.
  12. Inoue M, Sebastian WA, Sonoda S, Miyahara H, Shimizu N, Shiraishi H, Maeda M, Yanagi K, Kaname T, Hanada R, Hanada T, Ihara K. Biallelic variants in LARS1 induce steatosis in developing zebrafish liver via enhanced autophagy. (2024). Orphanet J Rare Dis, 19(1):219. doi: 10.1186/s13023-024-03226-6.
  13. Nagura Y, Shimada M, Kuribayashi R, Kiyose H, Igarashi A, Kaname T, Unoki M, Fujimoto A. Long-read sequencing reveals novel isoform-specific eQTLs and regulatory mechanisms of isoform expression. (2024). medRxiv, 2024.02.21.24302494. doi:10.1101/2024.02.21.24302494.
  14. Okamoto N, Yoshida S, Ogitani A, Etani Y, Yanagi K, Kaname T. Biallelic loss-of-function variants of EZH1 cause a novel developmental disorder with central precocious puberty. (2024). Am J Med Genet A, 194(10):e63726. doi: 10.1002/ajmg.a.63726.
  15. Sakamoto A, Uchiyama T, Kaname T, Iguchi A, Ohara O, Yada Y, Onuma M, Kunishima S, Ishiguro A. Diagnostic delay of MYH9-related disorder in Japan. (2024). Br J Haematol, 204(6):2400-2404. doi: 10.1111/bjh.19484.
  16. Okano S, Makita Y, Ueda Y, Miyamoto A, Tanaka H, Yanagi K, Kaname T. ATP1A3 potentially causes hereditary spastic paraplegia: a case report of a patient presenting with lower limb spasticity and intellectual disability. (2024). Brain Dev Case Rep, 2(2):100016. doi. 10.1016/j.bdcasr.2024.100016.
  17. Nagoshi R, Sakamoto A, Imai T, Uchiyama T, Kaname T, Kunishima S, Ishiguro A. Bernard-Soulier syndrome caused by a novel GP1BB variant and 22q11.2 deletion. (2024). Int J Hematol, 120(1):142-145. doi: 10.1007/s12185-024-03768-2.
  18. Iida T, Igarashi A, Fukunaga K, Aoki T, Hidai T, Yanagi K, Yamamori M, Satou K, Go H, Kosho T, Maki R, Suzuki T, Nitta Y, Sugie A, Asaoka Y, Furutani-Seiki M, Kimura T, Matsubara Y, Kaname T. Functional analysis of RRAS2 pathogenic variants with a Noonan-like phenotype. (2024). Front Genet, 15:1383176. doi: 10.3389/fgene.2024.1383176.
  19. Shimabukuro W, Chinen Y, Imanaga N, Yanagi K, Kaname T, Nakanish K. Renal coloboma syndrome/dominant optic atrophy with severe retinal atrophy and de novo digenic mutations in PAX2 and OPA1. (2024). Pediatr Nephrol, 39(8):2351-2353. doi: 10.1007/s00467-024-06347-z.
  20. Ikeda K, Tamagake A, Kubota T, Izumi R, Yamaguchi T, Yanagi K, Misu T, Aoki Y, Kaname T, Aoki M. An adult case of Poretti-Boltshauser syndrome diagnosed by medical checkup. (2024). Cerebellum, 23(5):2205-2207. doi: 10.1007/s12311-024-01673-2.
  21. Nakamura W, Hirata M, Oda S, Chiba K, Okada A, Mateos RN, Sugawa M, Iida N, Ushiama M, Tanabe N, Sakamoto H, Sekine S, Hirasawa A, Kawai Y, Tokunaga K; NCBN Controls WGS Consortium (Kaname T); Tsujimoto S-I, Shiba N, Ito S, Yoshida T, Shiraishi Y. Assessing the efficacy of target adaptive sampling long-read sequencing through hereditary cancer patient genomes. (2024). npj Genom Med, 9:11. doi: 10.1038/s41525-024-00394-z.
  22. Nishi E, Yanagi K, Kaname T, Okamoto N. Clinical details of individuals with Rauch-Steindl syndrome due to NSD2 truncating variants. (2024). Mol Genet Genomic Med, 12(2):e2396. doi: 10.1002/mgg3.2396. PMID: 38353053.
  23. STAT6 Gain-of-Function International Consortium (Sharma M, Suratannon N, Leung D, Baris S, Takeuchi I, Samra S, Yanagi K, Duque JSR, Benamar M, Del Bel KL, Momenilandi M, Béziat V, Casanova J-L, van Hagen PM, Arai K, Nomura I, Kaname T, Chatchatee P, Morita H, Chatila TA, Lau YL, Turvey SE). Human germline gain-of-function in STAT6: from severe allergic diseases to lymphoma and beyond. (2024). Trends Immunol, 45(2):138-153. doi: 10.1016/j.it.2023.12.003.
  24. Tokunaga S, Shimomura H, Taniguchi N, Yanagi K, Kaname T, Okamoto N, Takeshima Y. A novel DLG4 variant causes DLG4-related synaptopathy with intellectual regression. (2024). Hum Genome Var, 11(1):1. doi: 10.1038/s41439-023-00260-x.
  25. Kiyokawa Y, Terajima M, Sato M, Inada E, Hori Y, Bando R, Iwase Y, Kubota N, Murakami T, Tsugane H, et al. Scratch-based isolation of primary cells (SCIP): A novel method to obtain a large number of human dental pulp cells through one-step cultivation. (2024). J Clin. Med. 13(23):7058. doi: 10.3390/jcm13237058.
  26. Kawabe J, Kajihara K, Matsuyama Y, Mori Y, Hamano T, Mimaki M, Kitamura Y, Matsumura R, Matsuyama M, Sato M, Ohtsuka M, Node K, Akashi M. In vivo functional significance of direct physical interaction between period and cryptochrome in mammalian circadian rhythm generation. (2024). PNAS Nexus. 3(12):pgae516. doi: 10.1093/pnasnexus/pgae516.
  27. Sato M, Inada E, Saitoh I, Morohoshi K, Nakamura S. Artificial insemination as a possible convenient tool to acquire genome-edited mice via in vivo fertilization with engineered sperm. (2024). BioTech (Basel) 2024;13(4):45. doi: 10.3390/biotech13040045.
  28. Hijikata A, Suyama M, Kikugawa S, Matoba R, Naruto T, Enomoto Y, Kurosawa K, Harada N, Yanagi K, Kaname T, Miyako K, Takazawa M, Sasai H, Hosokawa J, Itoga S, Yamaguchi T, Kosho T, Matsubara K, Kuroki Y, Fukami M, Adachi K, Nanba E, Tsuchida N, Uchiyama Y, Matsumoto N, Nishimura K, Ohara O. Exome-wide benchmark of difficult-to-sequence regions using short read next-generation DNA sequencing. (2024). Nucleic Acids Res, 52(1):114-124. doi: 10.1093/nar/gkad1140.
  29. Handa H, Sugiyama A, Kaname T, Shigemoto Y, Sato N, Hirano S, Nakagawa Y, Uzawa A, Aotsuka A, Kuwabara S. Frontal deficits and atrophy in a patient with neuroserpinosis with single-case voxel-based morphometry. (2024). BMC Neurology, 24(1):9. doi: 10.1186/s12883-023-03511-0.
  30. 西川典子、蒔田芳男、青木大芽、柳久美子、要 匡: AFG3L2遺伝子の病的バリアントによる両眼視神経萎縮（OPA12）の1 例．臨床眼科　78(3):337-342, 2024.
  31. 稲森 啓一郎, 宍戸 史, 許 家甄, 永福 正和, 新田 昂大, 中村 勝哉, 土田 奈緒美, 池田 淳司, 小平 農, 栂谷内 晶, 古川 潤一, 山口 芳樹, 木下 聖子, 要 匡, 中村 豊, 大野 勲, 中村 雅彦, 下畑 享良, 松本 直通, 古庄 知己, 関島 良樹, 木下 賢吾, 西原 祥子, 井ノ口 仁一： 神経変性症患者および一般住民に見出された新規B4GALNT1(GM2合成酵素)バリアントの機能解析．脂質生化学研究、66:238-240, 2024.
  32. 要 匡: 希少疾患の網羅的ゲノム解析 --全エクソーム解析/全ゲノム解析　別冊・医学のあゆみ「全ゲノム解析に基づく難病のゲノム医学」 40-46, 2024.
  33. 要 匡： 【遺伝学的検査Up to Date】 遺伝学的検査の応用法を知ろう!　最先端プロジェクト（その1） "未診断疾患イニシアチブ (IRUD)" を知ろう！　小児科診療 87(11):1585-1590, 2024.
  34. 要 匡： 小児臨床検査2024　染色体・遺伝子検査 1.総論 8)次世代シーケンサー - エクソーム解析，全ゲノム解析． 小児内科 56(増刊)：697-700, 2024.

2023

  1. Aoki E, Manabe N, Ohno S, Aoki T, Furukawa J-I, Togayachi A, Aoki-Kinoshita K, Inokuchi J-I, Kurosawa K, Kaname T, Yamaguchi Y, Nishihara S. Predicting the pathogenicity of missense variants based on protein instability to support diagnosis of patients with novel variants of ARSL. (2023). Mol Genet Metab Rep, 37:101016. doi: 10.1016/j.ymgmr.2023.101016.
  2. Kawai Y, Watanabe Y, Omae Y, Miyahara R, Khor S-S, Noiri E, Kitajima K, Shimanuki H, Gatanaga H, Hata K, Hattori K, Iida A, Ishibashi-Ueda H, Kaname T, Kanto T, Matsumura R, Miyo K, Noguchi M, Ozaki K, Sugiyama M, Takahashi A, Tokuda H, Tomita T, Umezawa A, Watanabe H, Yoshida S, Goto Y-i, Maruoka Y, Matsubara Y, Niida S, Mizokami M, Tokunaga K. Exploring the genetic diversity of the Japanese Population: Insights from a Large-Scale Whole Genome Sequencing Analysis. (2023). PLOS Genet, 19(12):e1010625. doi: 10.1371/journal.pgen.1010625.
  3. Shimoda F, Naito T, Kakuta Y, Kawai Y, Tokunaga K; NCBN Controls WGS Consortium (Kaname T); Shimoyama Y, Moroi R, Shiga H, Nagasaki M, Kinouchi Y, Masamune A. HLA-DQA1*05 and upstream variants of PPARGC1B are associated with infliximab persistence in Japanese Crohn's disease patients. (2023). Pharmacogenomics J, 23(6):141-148. doi: 10.1038/s41397-023-00312-z.
  4. Kouno H, Kunishima S, Takebe J, Uchiyama T, Kaname T, Ishiguro A. Measurement of immature platelet fraction is useful in the differential diagnosis of MYH9 disorders. (2023). Int J Lab Hematol, 45(5):700-706, doi: 10.1111/ijlh.14123.
  5. Imanishi R, Nakau K, Shimada S, Oka H, Takeguchi R, Tanaka R, Sugiyama T, Nii M, Okamoto T, Nagaya K, Makita Y, Yanagi K, Kaname T, Takahashi S. A novel HECW2 variant in an infant with congenital long QT syndrome. (2023). Hum Genome Var, 10(1):17, doi:10.1038/s41439-023-00245-w.
  6. Kawano S, Araki K, Bai J, Furukawa I, Tateishi K, Yoshinobu K, Usuki S, Nimmo R, Kaname T, Yoshihara M, Takahashi S, Sashida G, Araki M. A gain-of-function mutation in micro-RNA-142 is sufficient to cause the development of T-cell leukemia in mice. (2023). Cancer Sci, 114(7): 2821-2834, doi:10.1111/cas.15794.
  7. Haga S, Takeguchi R, Tanaka R, Satake A, Makita Y, Yanagi K, Kaname T, Takahashi S. 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. (2023). Brain Dev, 45(7): 390-394, doi:10.1016/j.braindev.2023.02.008.
  8. Tanabe Y, Nomura N, Minami M, Takaya J, Okamoto N, Yanagi K, Kaname T, Fujii Y, Kaneko K. HIST1H1E syndrome with deficiency in multiple pituitary hormones. (2023). Clin Pediatr Endocrinol, 32(3):195-198. doi: 10.1297/cpe.2023-0002.
  9. Yanagi K, Coker J, Miyana K, Aso S, Kobayashi N, Satou K, Richman A, Indupuru S, Matsubara Y, Kaname T. Biallelic CC2D2A variants, SNV and LINE-1 insertion simultaneously identified in siblings using long-read whole-genome sequencing and haplotype phasing. (2023). J Hum Genet, 68(6): 431-435, doi:10.1038/s10038-023-01130-8.
  10. Okano S, Makita Y, Miyamoto A, Taketazu G, Kimura K, Fukuda I, Tanaka H, Yanagi K, Kaname T. GRIA3Met661Thr variant in a female with developmental epileptic encephalopathy. (2023). Hum Genome Var, 10(1):4. doi: 10.1038/s41439-023-00232-1.
  11. Takeuchi I*, Yanagi K*, Takada S, Uchiyama T, Igarashi A, Motomura K, Hayashi Y, Nagano N, Matsuoka R, Sugiyama H, Yoshioka T, Saito H, Kawai T, Miyaji Y, Inuzuka Y, Matsubara Y, Ohya Y, Shimizu T, Matsumoto K, Arai K†, Nomura I†, Kaname T†, Morita H†. STAT6 gain-of-function variant exacerbates multiple allergic symptoms. (2023). J Allergy Clin Immunol, *equally contributed, †co-corresponding. 151(5):1402-1409, doi:10.1016/j.jaci.2022.12.802.
  12. Wada MK, Fukuhara Y, Hayakawa I, Kaname T, Ishiguro A. KARS-related diseases with macrothrombocytes and pulmonary arterial hypertension. (2023). Pediatr Int, 65(1):e15428. doi: 10.1111/ped.15428.
  13. Yamano S, Iguchi A, Ishikawa K, Sakamoto A, Uchiyama T, Yanagi K, Kaname T, Kunishima S, Ishiguro A. Splenectomy as an effective treatment for macrothrombocytopenia in Takenouchi-Kosaki syndrome. (2023). Int J Hematol, 117: 622-625, doi: 10.1007/s12185-022-03491-w.
  14. Tamai M, Fujisawa S, Nguyen TTT, Komatsu C, Kagami K, Kamimoto K, Omachi K, Kasai S, Harama D, Watanabe A, Akahane K, Goi K, Naka K, Kaname T, Teshima T, Inukai T. Creation of Philadelphia chromosome by CRISPR/Cas9-mediated double cleavages on BCR and ABL1 genes as a model for initial event in leukemogenesis. (2023). Cancer Gene Ther, 30(1):38-50. doi:10.1038/s41417-022-00522-w.
  15. Nakamura S, Morohoshi K, Inada E, Sato Y, Watanabe S, Saitoh I, Sato M. Recent Advances in In Vivo Somatic Cell Gene Modification in Newborn Pups. (2023). J. Mol. Sci. 24(20):15301. doi: 10.3390/ijms242015301.
  16. Sato M, Morohoshi K, Ohtsuka　M, Takabayashi S, Inada E, Saitoh I, Watanabe S, Nakamura S. Recent Advances in the Production of Genome-Edited Animals Using i-GONAD, a Novel in vivo Genome Editing System, and Its Possible Use for the Study of Female Reproductive Systems. (2023). OBM Genet. 7(4): 2304207. doi:10.21926/obm.genet.2304207.
  17. Sato M, Nakamura A, Sekiguchi M, Matsuwaki T, Miura H, Gurumurthy CB, Kakuta S, Ohtsuka M. Improved Genome Editing via Oviductal Nucleic Acids Delivery (i-GONAD): Protocol Steps and Additional Notes. In: Saunders, T.L. (eds) (2023). Methods Mol Biol, 2631: 325-340. Humana, New York, NY. doi: 10.1007/978-1-0716-2990-1_14.
  18. 足立香織，佐藤万仁：特集 遺伝診療における遺伝学的検査の最前線　難病領域における遺伝学的検査の情報提供、遺伝子医学、 13(2):39-47．2023年
  19. 要 匡：特集 遺伝診療における遺伝学的検査の最前線未診断疾患イニシアチブ（IRUD)の現状と今後 -研究と診療のつながり-、遺伝子医学、 13(2):48-54. 2023年
  20. 要 匡：希少疾患の網羅的ゲノム解析 -全エクソーム解析/全ゲノム解析、医学のあゆみ 第1土曜特集、285(1):40-46. 2023年
  21. 佐藤正宏：教育セミナーフォーラム2023 「新しい分子生物学技術を用いた生体機能解析」　 ゲノム編集マウス作製を全て体内で可能な新規法i-GONAD-開発から最近の動向まで-、　LABIO、 21:10-12. 2023年
  22. 要 匡、柳久美子：遺伝を考える　(カラー口絵)6. Genome Data Viewer、日本医師会雑誌、152（特別号(1)）:S13-S14. 2023年
  23. 要 匡：遺伝を考える個別診療分野における遺伝学的診断の進歩「未診断疾患イニシアチブ」、日本医師会雑誌、152（特別号(1)）:S128-S131. 2023年

2022

  1. Matsuura N, Kaname T, Niikawa N, Ooyama Y, Shinohara O, Yokota Y, Ohtsu S, Takubo N, Kitsuda K, Shibayama K, Takada F, Koike A, Sano H, Ito Y, Ishikura K. Acrodysostosis and pseudohypoparathyroidism (PHP): Adaptation of Japanese patients with a newly proposed classification and expanding the phenotypic spectrum of variants. (2022). Endocr Connect, 11(10):e220151.
  2. Narita K, Muramatsu H, Narumi S, Nakamura Y, Okuno Y, Suzuki K, Hamada M, Yamaguchi N, Suzuki A, Nishio Y, Shiraki A, Yamamori A, Tsumura Y, Sawamura F, Kawaguchi M, Wakamatsu M, Kataoka S, Kato K, Asada H, Kubota T, Muramatsu Y, Kidokoro H, Natsume J, Mizuno S, Nakata T, Inagaki H, Ishihara N, Yonekawa T, Okumura A, Ogi T, Kojima S, Kaname T, Hasegawa T, Saitoh S, Takahashi Y. Whole-exome analysis of 177 pediatric patients with undiagnosed diseases. (2022). Sci Rep, 12(1):14589.
  3. Takamatsu G, Yanagi K, Koganebuchi K, Yoshida F, Lee J-S, Toyama K, Hattori K, Katagiri C, Kondo T, Kunugi H, Kimura R, Kaname T, Matsushita M. Haplotype phasing of a bipolar disorder pedigree revealed rare multiple mutations of SPOCD1 gene in the 1p36-35 susceptibility locus. (2022). J Affect Disord, 310:96-105.
  4. Yamamoto K, Ohashi K, Fujimoto M, Ieda D, Nakamura Y, Hattori A, Kaname T, Ieda K, Nishino I, Saitoh S. Long-term follow-up of a patient with autosomal dominant lower extremity-predominant spinal muscular atrophy-2 due to a BICD2 (2022). Brain Dev, 44(8):578-582.
  5. Tanaka R, Takeguchi R, Kuroda M, Suzuki N, Makita Y, Yanagi K, Kaname T, Takahashi S. Novel NARS2 variants causing Leigh syndrome with normal lactate levels. (2022). Hum Genome Var, 9(1):12.
  6. Sushida H, Sakai H, Moriya N, Nakano K, Ashimine N, Minami M, Tamotsu H, Nakanishi T, Ohki S, Teruya K, Hirano T, Yamasaki S, Suzuki C, Satou K, Kimoto-Nira H. Complete Genome Sequence of Lactococcus cremoris Strain 7-1, a Lactic Acid Bacterium Isolated from a Traditional Mongolian Milk Product Possessing Mucin-Adhesive Ability. (2022). Microbiol Resour Announc. 11(4):e0014322.
  7. Fukuda Y, Kudo Y, Saito M, Kaname T, Oota T, Shoji R. Expanding the PURA syndrome phenotype in a Japanese female patient. (2022). Hum Genome Var, 9(1):11.
  8. Akamine Y, Millman JF, Uema T, Okamoto S, Yonamine M, Uehara M, Kozuka C, Kaname T, Shimabukuro M, Kinjo K, Mitsuta M, Watanabe H, Masuzaki H. Fermented brown rice beverage distinctively modulates the gut microbiota in Okinawans with Metabolic Syndrome: a randomized controlled trial. (2022). Nutr Res, 103:68-81.
  9. Iijima H, Yanagi K, Kaname T, Kubota M. Feeding disorder in a patient with Wiedemann-Steiner syndrome. (2022). Pediatr Int, 64(1):e15203.
  10. Takahashi Y, Date H, Oi H, Adachi T, Imanishi N, Kimura E, Takizawa H, Kosugi S, Matsumoto N, Kosaki K, Matsubara Y; IRUD Consortium (Kaname T), Mizusawa H. Six years' accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures. (2022). J Hum Genet, 67(9):505-513.
  11. Suzuki R, Saitou N, Matsuari O, Shiota S, Matsumoto T, Akada J, Kinjo N, Kinjo F, Teruya K, Shimoji M, Shiroma A, Kato M, Satou K, Hirano T, Asaka M, Kryukov K, Moodley Y, Yamaoka Y. Helicobacter pylori genomes reveal Paleolithic human migration to the east end of Asia. (2022).iScience. 25(7):104477.
  12. Chinen Y, Nakamura S, Yanagi K, Kaneshi T, Goya H , Yoshida T, Satou K, Kaname T, Naritomi K, Nakanishi K. Additional findings of tibial dysplasia in a male with orofaciodigital syndrome type XVI. (2022). Hum Genome Var, 9(1):9.
  13. Takeuchi H, Higurashi N, Kawame H, Kaname T, Yanagi K, Nonaka Y, Hirotsu T, Matsushima S, Shimizu T, Gomi T, Fukasawa N. GFAP variant p. Tyr366Cys demonstrated widespread brain cavitation in neonatal Alexander disease. (2022). Radiol Case Rep, 17:771-774.
  14. Ganaha A, Hishinuma E, Kaname T, Hiratsuka M, Kondo S, Tono T. Rapid Genetic Diagnosis for Okinawan Patients with Enlarged Vestibular Aqueduct Using Single-stranded Tag Hybridization Chromatographic Printed-array Strip. (2022). J Clin Med, 11(4):1099.
  15. Okamoto N, Miya F, Tsunoda T, Kanemura Y, Saitoh S, Kato M, Yanagi K, Kaname T, Kosaki K. Four pedigrees with aminoacyl‑tRNA synthetase abnormalities. (2022). Neurol Sci, 43(4):2765-2774.
  16. Akaba Y, Takeguchi R, Tanaka R, Makita Y, Kimura T, Yanagi K, Kaname T, Nishino I, Takahashi S. Wide spectrum of cardiac phenotype in myofibrillar myopathy associated with a Bcl-2-Associated Athanogene 3 mutation: a case report and literature review. (2022). J Clin Neuromuscul Dis, 24:49-54.
  17. Nishi E, Takenouchi T, Miya F, Uehara T, Yanagi K, Hasegawa Y, Ueda K, Mizuno S, Kaname T, Kosaki K, Okamoto N. The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke-Hennekam syndrome. (2022). Am J Med Genet A, 188A(2):446-453.
  18. Kirikae H, Uematsu M, Numata-Uematsu Y, Saijo N, Katata Y, Oikawa Y, Kikuchi A, Yanagi K, Kaname T, Haginoya K, Kure S. Two types of early epileptic encephalopathy in a Pitt-Hopkins syndrome patient with a novel TCF4 (2022). Brain Dev, 44(2):148-152.
  19. Uchida T, Yamashita A, Ishizawa A, Sadahiro M, Azuma N, Kaname T. NT5E mutation in sisters who underwent aortic valve replacements for aortic stenosis. (2022). Interact Cardiovasc Thorac Surg, 34(1):45-48.
  20. 成富研二、要 匡：2022年、【ゲノム医療におけるデータベース-使い方とコツ】 遺伝疾患ゲノム医療関連のデータベース　UR-DBMS/Syndrome Finder.　遺伝子医学、39: 70-76.
  21. 要 匡：2022年、5-8 遺伝病、日本遺伝学会（編）　遺伝学の百科事典、丸善出版、東京、206-207.
  22. 内田佳子、小﨑里華、柳久美子、植松悟子、要 匡：2021年、当院における小児突然死に対する網羅的遺伝学的解析の有用性．日本SIDS・乳幼児突然死予防学会雑誌、21(1):38-43.
  23. 要 匡：2022年、〔小児医療の最前線〕AIを活用した身体的特徴等からの希少疾患の診断支援．医学のあゆみ、282(5): 339-344.
  24. 要 匡：2022年、Chapter 101. 希少疾患および診断未確定疾患に対する遺伝的アプローチ ネルソン小児科学 第21版　エルゼビア・ジャパン、 東京、William A. Gahl, David R. Adams, Thomas C. Markello, Camilo Toro, Cynthia J. Tifft.、Chapter 101 Genetic Approaches to Rare and Undiagnosed Diseases (2019)、Nelson Textbook of Pediatrics, 21st ed. Elsevier、
  25. 古金遼也，藤野明浩，内田佳子，狩野元宏，野坂俊介，金森豊，笠原群生，梅澤明弘，義岡孝子，要 匡：2022年、上腸間膜動脈起始部断裂にて発症した血管型Ehlers－Danlos症候群の13歳男児例．日本小児外科学会雑誌、58(5):838-845. doi:10.11164/jjsps.58.5_838
  26. 要 匡、飯田貴也：2022年、〔近未来の小児科のあり方・これからの展望〕 先端医学・難病対策　AIによる診断支援システム．小児科、　63(13):1530-1537.
  27. 知念安紹、仲村貞郎、名嘉山賀子、吉田朝秀、高山良野、原 圭一、但馬 剛、柳久美子、要 匡、中西浩一：2022年、沖縄県の新生児タンデムマススクリーニング開始前後の脂肪酸代謝異常症．　日本マススクリーニング学会誌、　32(3):318-324.
  28. 要 匡：2022年、網羅的ゲノム解析による死因究明への貢献．日本SIDS・乳幼児突然死予防学会雑誌、22(1):33-39.

2021

  1. Ishikawa K, Uchiyama T, Kaname T, Kawai T, Ishiguro A. Autoimmune hemolytic anemia associated with Takenouchi-Kosaki syndrome. (2021). Pediatr Int, 63(12):1528-1530.
  2. Adachi K, Satou K, Nanba E., Online Questionnaire on Genetic Testing for Intractable Diseases in Japan: Response to and Issues Associated with the Revised Medical Care Act. (2021). J Hum Genet, 66(11):1043-1051.
  3. Yanagi K, Morimoto N, Iso M, Abe Y, Okamura K, Nakamura T, Matsubara Y, Kaname T. A novel missense variant of the GNAI3 gene and recognisable morphological characteristics of the mandibula in ARCND1. (2021). J Hum Genet., 66(10):1029-1034.
  4. Kanamaru Y, Uchiyama T, Kaname T, Yanagi K, Ohara O, Kunishima S, Ishiguro A. ETV6-related thrombocytopenia associated with a transient decrease in von Willebrand factor. (2021). Int J Hematol, 114: 297-300.
  5. Chowdhury F, Wang L, Al-Raqad M, Amor DJ, Baxová , Bendová Š, Biamino E, Brusco A, Caluseriu O, Cox NJ, Froukh T, Gunay-Aygun M, Hančárová M, Haynes D, Heide S, Hoganson G, Kaname T, Keren B, Kosaki K, Kubota K, Lemons JM, Magriña MA, Mark PR, McDonald MT, Montgomery S, Morley GM, Ohnishi H, Okamoto N, Rodriguez-Buritica D, Rump P, Sedláček Z, Schatz K, Streff H, Uehara T, Walia JS, Wheeler PG, Wiesener A, Zweier C, Kawakami K, Wentzensen IM, Lalani SR, Siu VM, Bi W, Balci TB. Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye and multi-system abnormalities. (2021). Genet Med, 23(7) 1234-1245.
  6. Igarashi A, Matsumoto K, Matsuda A., MicroRNA‐29s suppressed both soluble ST2 release and IFNAR1 expression in human bronchial epithelial cells. (2021). Allergy, 76(7):2264-2267.
  7. Ueda K, Ogawa S, Matsuda K, Hasegawa Y, Nishi E, Yanagi K, Kaname T, Yamamoto T, Okamoto N. Blended phenotype of combination of HERC2 and AP3B2 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15. (2021). Am J Med Genet A, 185A: 3092-3098.
  8. Nihonmatsu-Kikuchi N, Yu X-J, Matsuda Y, Ozawa N, Ito T, Satou K, Kaname T, Iwasaki Y, Akagi A, Yoshida M, Toru S, Hirokawa K, Takashima A, Hasegawa M, Uchihara T, Tatebayashi Y. Essential roles of plexin-B3+ oligodendrocyte precursor cells in the pathogenesis of Alzheimer's disease. (2021). Commun Biol, 4(1) 870.
  9. Tsumura H, Shindo M, Ito M, Igarashi A, Takeda K, Matsumoto K, Ohkura T, Miyado K, Sugiyama F, Umezawa A, Ito Y. Relationships between Slc1a5 and Osteoclastogenesis. (2021). Comp Med, 71(4) 285-294.
  10. Okamoto T, Nakamura A, Hayashi A, Yamaguchi T, Ogawa Y, Natsuga K, Yanagi K, Hotta K. Successful kidney transplantation in a patient with neonatal-onset ILNEB. (2021). Pediatr Transplant, 25(5):e13971.
  11. Hiraide T, Yamoto K, Masunaga Y, Asahina M, Endoh Y, Ohkubo Y, Matsubayashi T, Tsurui S, Yamada H, Yanagi K, Nakashima M, Hirano K, Sugimura H, Fukuda T, Ogata T, Saitsu H. Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing. (2021). Clin Genet, 100(1):40-50.
  12. Nishi E, Uehara T, Yanagi K, Hasegawa Y, Ueda K, Kaname T, Yamamoto T, Kosaki K, Okamoto N. Clinical spectrum of individuals with de novo EBF3 variants or deletions. (2021). Am J Med Genet A, 185A: 2913-2921.
  13. Yanagishita T, Hirade T, Yamamoto-Shimojima K, Funatsuka M, Miyamoto Y, Maeda M, Yanagi K, Kaname T, Nagata S, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Sakata Y, Kosaki K, Yamamoto T. HECW2-related disorder in four Japanese patients. (2021). Am J Med Genet A, 185A: 2895-2902.
  14. Yamamoto-Shimojima K, Akagawa H, Yanagi K, Kaname T, Okamoto N, Yamamoto T. Deep intronic deletion in intron 3 of PLP1 associated with severe phenotype of Pelizaeus-Merzbacher disease. (2021). Hum Genome Var, 8(1) :14.
  15. Nishida T, Nakano K, Inoue Y, Narumi-Kishimoto Y, Kaname T, Akashi K, Tanaka Y. A Case of Stimulator of Interferon Genes associated Vasculopathy with an Onset in Infancy Diagnosed after the Development of Atypical Pulmonary Lesions During Treatment as Juvenile Idiopathic Arthritis. (2021). Intern Med, 60(7) 1109-1114.
  16. Fukuhara Y, Miura A, Yamazaki N, So T, Kosuga M, Yanagi K, Kaname T, Yamagata T, Sakuraba H, Okuyama T. A cDNA analysis disclosed the discordance of genotype-phenotype correlation in a patient with attenuated MPS II and a 76-base deletion in the gene for iduronate-2-sulfatase. (2021). Mol Genet Metab Rep, 25(2020) 100692.
  17. Nomura S, Kashiwagi M, Tanabe T, Oba C, Yanagi K, Kaname T, Okamoto N, Ashida A. Rapid-onset dystonia-parkinsonism with ATP1A3 mutation and left lower limb paroxysmal dystonia. (2021). Brain Dev, 43(4) 566-570.
  18. Zarate YA, Uehara T, Abe K, Oginuma M, Harako S, Ishitani S, Lehesjoki AE, Bierhals T, Kloth K, Ehmke N, Horn D, Holtgrewe M, Anderson K, Viskochil D, Edgar-Zarate CL, Guillen Sacoto MJ, Schnur RE, Morrow M, Sanchez-Valle A, Pappas J, Rabin R, Muona M, Anttonen AK, Platzer K, Luppe J, Gburek-Augustat J, Kaname T, (7名), CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants. (2021). Genet Med, 23:1050-1057.
  19. Kawano-Matsuda F, Maeda T, Kaname T, Yanagi K, Ihara K., X-linked mental retardation and severe short stature with a novel mutation of the KDM5C gene. (2021). Clin Pediatr Endocrinol, 30(1) 61-64.
  20. Nishino Y, Kidokoro H, Takeo T, Narita H, Sawamura F, Narita K, Kawano Y, Nakata T, Muramatsu H, Hara S, Kaname T, Natsume J., The eldest case of MICPCH with CASK mutation exhibiting gross motor regression. (2021). Brain Dev, 43(3) 459-463.
  21. Iwafuchi S, Kikuchi A, Endo W, Inui T, Aihara Y, Satou K, Kaname T, Kure S., A novel stop-gain CUL3 mutation in a Japanese patient with autism spectrum disorder. (2021). Brain Dev, 43(2) 303-307.
  22. Ueda Y, Suganuma T, Narumi-Kishimoto Y, Kaname T, Sato T. A case of severe autosomal dominant spinal muscular atrophy with lower extremity predominance caused by a de novo BICD2 (2021). Brain Dev, 43(1):135-139. doi: 10.1016/j.braindev.2020.08.006.
  23. 桐林和代、要 匡、川目裕：2021年、遺伝カウンセリング・ジレンマセッション　小児未診断患者における網羅的な遺伝学的検査（全エクソーム解析）．日本遺伝カウンセリング学会誌、42(3):253-263.
  24. 田中亮介、黒田真実、竹口 諒、福村 忍、要 匡、高橋 悟：2021年、IQSEC2遺伝子の新規突然変異による発達性てんかん性脳症の男児例．脳と発達、53(2):129-132.
  25. 平井 宏子、仲岡 英幸、伊吹圭二郎、小澤　綾佳、本間 崇浩、橋本 郁夫、岡部 敬、市田 蕗子、要 匡、廣野 恵一：2021年、RASA1 遺伝子の新規変異が見いだされた遺伝性出血性毛細血管拡張症．日本小児科学会雑誌、125(1): 37-41.
  26. 要 匡：2021年、〔小児外科疾患の家族内発生〕　希少疾患の遺伝学的解析．小児外科、53(12): 1220-1223.
  27. 要 匡：2021年、小児希少疾患における網羅的遺伝子解析法の活用．周産期医学、51(5): 715-718.
  28. 要 匡、後藤雄一：2021年、希少疾患のゲノム医療の社会実装；ナショナルセンターにおける取組み．臨床病理レビュー、第165号:　2-7.
  29. 要 匡: 2021年、小児期の遺伝学的検査　B網羅的遺伝子関連検査　臨床遺伝専門医制度委員会（監修）　臨床遺伝専門医テキスト３　各論II 臨床遺伝学　小児領域、診断と治療社、東京、33-38.
  30. 要 匡：2021年、1耳垢遺伝子 ABCC11　井上逸朗、今西規、河村正二、斎藤成也、颯田葉子、田嶋敦（編）　ヒトゲノム事典、一色出版、東京、352.
  31. 要 匡：2021年、3 ケラチン　井上逸朗、今西規、河村正二、斎藤成也、颯田葉子、田嶋敦（編）　ヒトゲノム事典、一色出版、東京、353-356.
  32. 要 匡：2021年、4コラーゲン　井上逸朗、今西規、河村正二、斎藤成也、颯田葉子、田嶋敦（編）　ヒトゲノム事典、一色出版、東京、356-358.
  33. 要 匡：2021年、[6.5]大量並列DNA塩基配列決定法（次世代塩基配列決定法）、戸田逹史、井上聡、松本直通（監訳）　ヒトの分子遺伝学 第5版、メディカルサイエンスインターナショナル、東京、208-223、Tom Strachan, Andrew Read (2018)、Human Molecular Genetics 5th ed.、Garland Science、

2020

  1. Murakami H, Tsurusaki Y, Enomoto K, Kuroda Y, Yokoi Y, Furuya N, Yoshihashi H, Minatogawa M, Abe-Hatano C, Ohashi I, Nishimura N, Kumaki T, Enomoto Y, Naruto T, Iwasaki F, Harada N, Ishikawa A, Kawame H, Sameshima K, Yamaguchi Y, Kobayashi M, Tominaga M, Ishikiriyama S, Tanaka T, Suzumura H, Ninomiya S, Kondo A, Kaname T, Kosaki K, Masuno M, Kuroki Y, Kurosawa K. Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome. (2020). Am J Med Genet A, 182A:2333-2344.
  2. Ueda Y, Suganuma T, Narumi-Kishimoto Y, Kaname T, Sato T. A case of severe autosomal dominant spinal muscular atrophy with lower extremity predominance caused by a de novo BICD2 mutation. (2020). Brain Dev, 43(1):135-139.
  3. Narumi-Kishimoto Y, Ozawa H, Yanagi K, Kawai T, Okamura K, Hata K, Kaname T, Matsubara Y. A novel EFTUD2 mutation identified an adult male with mandibulofacial dysostosis Guion-Almeida type. (2020). Clin Dysmorphol. 29(4):186-188.
  4. Nakamura S#, Chinen Y#, Satou K#, Tokashiki T, Kumada S, Yanagi K, Kaname T, Naritomi K, Nakanishi K. A severe case of status dystonic caused by a de novo KMT2B missense mutation. (2020). Eur J Med Genet, 63(11):104057. #:equal contribution.
  5. Okano S, Miyamoto A, Makita Y, Taketazu G, Kimura K, Fukuda I, Tanaka H, Yanagi K, Kaname T. Severe gastrointestinal symptoms caused by a novel DDX3X variant. (2020). Eur J Med Genet, 63(12):104058.
  6. Nagara S, Fukaya S, Muramatsu Y, Kaname T, Tanaka T. A case report of ZC4H2-associated rare disorders associated with three large hernias. (2020). Pediatr Int, 62:985-986.
  7. Tanaka R, Takahashi S, Kuroda M, Takeguchi R, Suzuki N, Makita Y, Kishimoto Y, Kaname T. Biallelic SZT2 variants in a child with developmental and epileptic encephalopathy. (2020). Epileptic Disord, 22(4):501-505.
  8. Chinen Y, Yanagi K, Nakamura S, Nakayama N, Kamiya M, Nakayashiro M, Kaname T, Naritomi K, Nakanishi K., A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients, and autoptic data. (2020). Hum Genome Var. 7:11.
  9. Nihonmatsu-Kikuchi N, Yu XJ, Matsuda Y, Ozawa N, Ito T, Satou K, Kaname T, Takashima A, Toru S, Hirokawa K, Hasegawa M, Uchihara T, Tatebayashi1 Y., Essential roles of plexin-B3+ oligodendrocyte precursor cells in the pathogenesis of Alzheimer's disease. (2020). bioRxiv. 15297. doi.org/10.1101/2020.03.30.015297.
  10. Kaname T. A commentary on germline mutations of multiple breast cancer-related genes are differentially associated with triple-negative breast cancers and prognostic factors. (2020). J Hum Genet. 65(7) 589-590.
  11. Azuma N, Uchida T, Kikuchi S, Sadahiro M, Shintani T, Yanagi K, Higashita R, Yamashita A, Makita Y, Kaname T. NT5E Genetic Mutation Is a Rare But Important Cause of Intermittent Claudication and Chronic Limb-Threatening Ischemia. (2020). Circ J. 84(7) 1183-1188.
  12. Shibuya R, Uehara Y, Baba T, Teruya K, Satou K, Hirano T, Kirikae T, Hiramatsu K., Complete genome sequence of a methicillin-resistant Staphylococcus lugdunensis strain and characteristics of its staphylococcal cassette chromosome mec. (2020). Sci Rep, 10:8682.
  13. Takahashi Y, Kongjaimun A, Muto C, Kobayashi Y, Kumagai M, Sakai H, Satou K, Teruya K, Shiroma A, Shimoji M, Hirano T, Isemura T, Saito H, Baba-Kasai A, Kaga A, Somta P, Tomooka N, Naito K., Same locus for non-shattering seed pod in two independently domesticated legumes, Vigna angularis and Vigna unguiculata. (2020). Front Genet, 11:748.
  14. Yamamoto K, Kubota T, Takeyari S, Kitaoka T, Miyata K, Nakano Y, Nakayama H, Ohata Y, Yanagi K, Kaname T, Okada Y, Ozono K., Parental somatogonadal COL2A1 mosaicism contributes to intrafamilial recurrence in a family with type 2 collagenopathy. (2020). Am J Med Genet A. 182(3) 454-460.
  15. Kawaguchi M, Sassa T, Kidokoro H, Nakata T, Kato K, Muramatsu H, Okuno Y, Yamamoto H, Kaname T, Kihara A, Natsume J. Novel biallelic FA2H mutations in a Japanese boy with fatty acid hydroxylase associated neurodegeneration. (2020) Brain Dev, 42(3):217-221.
  16. Moriwaki T, Yamazaki N, So T, Kosuga M, Miyazaki O, Narumi-Kishimoto Y, Kaname T, Nishimura G, Okuyama T, Fukuhara Y. Normal early development in siblings with novel compound heterozygous variants in ASPM. (2020). Hum Genome Var, 6:56.
  17. Yamaguchi N, Ban K, Suzuki A, Nakamura Y, Kato K, 3, Muramatsu H, Okuno Y, Hattori A, Kaname T, Takahashi Y, Saitoh S. Novel compound heterozygous MCOLN1 mutations identified in a Japanese girl with severe developmental delay and thin corpus callosum. (2020). Brain Dev, 42(3):298-301.
  18. Fukuda T, Hiraide T, Yamoto K, Nakashima M, Kawai T, Yanagi K, Ogata T, Saitsu H, A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic features. Eur J Med Genet. 63(4):103804.
  19. Hiraide T, Kubota K, Kono Y, Watanabe S, Matsubayashi T, Nakashima M, Kaname T, Fukao T, Shimozawa N, Ogata T, Saitsu H., POLR3A variants in striatal involvement without diffuse hypomyelination. (2020). Brain Dev. 42(4):363-368.
  20. Yonamine T, Kaname T, Chinen Y, Tamashiro K, Kosuge N, Saito S. Hereditary leiomyomatosis and renal cell cancer (HLRCC): A case report. (2020). Urol Case Rep. 30:101141.
  21. 要 匡：2020年、〔医療と人工知能の接点〕希少疾患診断とAI．　JOHNS、36(12) 1602-1605.
  22. 要 匡：2020年、IRUD(Initiative on Rare and Undiagnosed Diseases)による希少疾患の遺伝学的解析の成果．小児科臨床、73 (5)　551-554.

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