国立研究開発法人 国立成育医療研究センター National Center for Child Health and Development

代表: 03-3416-0181 / 予約センター(病院): 03-5494-7300
〈月~金曜日(祝祭日を除く)9時〜17時〉

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研究者・企業の方へ Scholar & Enterprise

研究者・企業の方へ Scholar & Enterprise

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、最先端の遺伝子解析機器と手法を駆使して、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を明らかにし、その研究成果の臨床応用を行います。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、そのうち病因遺伝子が判明しているものはまだ約半数に過ぎません。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。近年の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遺伝子解析手法の進展によって、これまで病因不明であった様々な疾患の本態が次々と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様々な希少難病を対象として新たな病因遺伝子の探索を行い、疾患発症機構の解明を目指します。また、最先端の遺伝子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変異データベースの整備を行います。さらには、遺伝子解析に基づいて将来の疾患発症を予測し、その発症予防や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、「疾病克服に向けたゲノム医療実現化プロジェクト」構想の中で、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。

スタッフ

ゲノム医療研究部

臨床応用ゲノム研究室

成育疾患ゲノム研究室

部室員

業績

2021

  1. Uchida T, Yamashita A, Ishizawa A, Sadahiro M, Azuma N, Kaname T. NT5E mutation in sisters who underwent aortic valve replacements for aortic stenosis. (2021). Interact CardioVasc Thorac Surg, in press.
  2. 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. (2021). Radiol Case Rep, in press.
  3. 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 mutation. (2021). Brain Dev, in press.
  4. 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. (2021). Am J Med Genet A, in press.
  5. 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 BAG3 mutation: a case report and literature review. (2021). J Clin Neuromuscul Dis, in press.
  6. 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. (2021). Neurol Sci, in press.
  7. 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.
  8. 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.
  9. 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.
  10. 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. 
  11. 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. 
  12. 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.
  13. 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.
  14. 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. 
  15. 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. 
  16. 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. 
  17. 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. 
  18. 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. 
  19. 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. 
  20. 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. 
  21. 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. 
  22. 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. 
  23. 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. 
  24. 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. 
  25. 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. 
  26. 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. 
  27. 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. 
  28. 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.
  29. 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.
  30. 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.
  31. 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.
  32. 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.
  33. 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.
  34. 要 匡: 2021年、3.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.
  35. 要 匡:2021年、26.1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.
  36. 要 匡:2021年、26.3 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.
  37. 要 匡:2021年、26.4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.
  38. 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、NY.

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、小児希少・未診断疾患イニシアチブの実施状況と課題.日本新生児成育医学会雑誌、32(1) 31-35.
  22. 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.
  23. 松原洋一, 要 匡, 秦健一郎:2020年、IRUD Beyond(Beyond Diagnosis) 治療に向けて.医学のあゆみ、273(7):575-577.
  24. 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.

2019

  1. Ganaha A, Kaname T, Yanagi K, Tono T, Higa T, Suzuki M. Clinical characteristics with long-term follow-up of four Okinawan families with moderate hearing loss caused by an OTOG variant. (2019). Hum Genome Var. 6:37. eCollection 2019.
  2. Oda Y, Uchiyama Y, Motomura A, Fujita A, Azuma Y, Harita Y, Mizuguchi T, Yanagi K, Ogata H, Hata K, Kaname T, Matsubara Y, Wakui K, Matsumoto N. Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndrome. (2019). J Hum Genet, 64(10):1005-1014.
  3. 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. Genetic factor for twisting legume pods identified by fine-mapping of shattering-related traits in azuki bean and yard-long bean. (2019). Plant J. in press.
  4. Suzuki R, Satou K, Teruya K, Shiroma A, Shimoji M, Matsumoto T, Akada J, Hirano T, Yamaoka Y. Genome wide mutation analysis of Helicobacter pylori by inoculation to Mongolian gerbils. (2019). Gut Pathog, 11:45. 
  5. Nakamura Y, Okuno Y, Muramatsu H, Kawai T, Satou K, Ieda D, Hori I, Ohashi K, Negishi Y, Hattori A, Takahashi Y, Kojima S, Saitoh S. A novel CUL4B splice site variant in a young male exhibiting less pronounced features. (2019). Hum Genome Var. 6:43.
  6. Nakashima M, Tohyama J, Nakagawa E, Watanabe Y, Ch’ng Gaik Siew, Chieng Siik Kwong, Yamoto K, Hiraide T, Fukuda T, Kaname T, Nakabayashi K, Hata K, Ogata T, Saitsu H, Matsumoto N. Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures. (2019). J Hum Genet, 64(4): 313-322. 
  7. Iso M, Suzuki M, Yanagi K, Minowa K, Sakurai Y, Nakano S, Satou K, Shimizu T, Kaname T. The CFTR gene variants in Japanese children with idiopathic pancreatitis. (2019). Hum Genome Var. 6:17. 
  8. Chinen Y, Nakamura S, Kaneshi T, Nakayashiro M, Yanagi K, Kaname T, Naritomi K, Nakanishi K. A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation. (2019). Hum Genome Var, 6:23. 
  9. Amari S, Tsukamoto K, Yanagi K, Ishiguro A, Kaname T, Ito Y. An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1. (2019). Eur J Med Genet. S1769-7212(19)30039-4. doi: 10.1016/j.ejmg.2019.04.003. in press.
  10. Narumi-Kishimoto Y, Araki N, Migita O, Kawai T, Okamura K, Nakabayashi K, Kaname T, Ozawa Y, Ozawa H, Takada F, Hata K. Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome. (2019) Eur J Med Genet, 62(9):103547. 
  11. Iwasawa S#, Yanagi K#, Kikuchi A, Kobayashi Y, Haginoya K, Matsumoto H, Kurosawa K, Ochiai M, Sakai Y, Fujita A, Miyake N, Niihori T, Shirota M, Funayama R, Nonoyama S, Ohga S, Kawame H, Nakayama K, Aoki Y, Matsumoto N, Kaname T, Matsubara Y, Shoji W, Kure S. Recurrent de Novo MAPK8IP3 Variants Cause Neurological Phenotypes. (2019). Ann Neurol. 85(6):927-933. #: equal contribution.
  12. Yamamoto-Shimojima K, Imaizumi T, Aoki Y, Inoue K, Kaname T, Okuno Y, Muramatsu H, Kato K, Yamamoto T. Elucidation of the pathogenic mechanism and potential treatment strategy for a female patient with spastic paraplegia derived from a single-nucleotide deletion in PLP1. (2019). J Hum Genet. 64(7). 665-671. 
  13. Ushijima K, Narumi S, Ogata T, Yokota I, Sugihara S, Kaname T, Horiwaka Y, Matsubara Y, Fukami M, Kawamura T. The Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes.: KLF11 (MODY7) variant in a family clinically diagnosed with early childhood-onset type 1B diabetes. (2019). Pediatr Diabete, 20(6):712-719. 
  14. Ueda K, Yanagi K, Kaname T, Okamoto N. A novel mutation in the GATAD2B gene associated with severe intellectual disability. (2019). Brain Dev, 41(3):276-279. 
  15. 要 匡:2019年、未診断疾患イニシアチブ(IRUD)におけるゲノム解析.Medical Science Digest、45(14) 846-849.
  16. 岸本洋子、要 匡、松原洋一:2019年、【未診断疾患イニシアチブ:使命・成果・展望】IRUD 希少遺伝性疾患の研究への展望、遺伝子医学、9(3) 76-81.
  17. 要 匡、秦健一郎、松原洋一:2019年、IRUD.別冊・医学のあゆみ「遺伝子解析研究の新時代」、83-87.
  18. 要 匡:2019年、【人工知能(AI)と小児医療】希少疾患(遺伝子関連疾患)、小児内科、51(1) 88-90.

2018

  1. Takeyari S, Kubota T, Miyata K, Yamamoto K, Nakayama H, Yamamoto K, Ohata Y, Kitaoka T, Yanagi K, Kaname T, Ozono K. Japanese Patient with Cole-Carpenter Syndrome with Compound Heterozygous Variants of SEC24D. (2018) Am J Med Genet A, 176(12):2882-2886. 
  2. Katoh-Fukui Y, Yatsuga S, Shima H, Hattori A, Nakamura A, Okamura K, Yanagi K, Iso M, Kaname T, Matsubara Y, Fukami M. An unclassified variant of CHD7 activates a cryptic splice site in a patient with CHARGE syndrome. (2018). Hum Genome Var, 5:18006. 
  3. Mizuguchi T, Nakashima M, Kato M, Okamoto N, Kurahashi H, Ekhilevitch N, Shiina M, Nishimura G, Shibata T, Matsuo M, Ikeda T, Ogata K, Tsuchida N, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Hata K, Kaname T, Matsubara Y, Saitsu H, Matsumoto N. Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders.(2018) Hum Mol Genet, 27(8) 1421-1433, 
  4. Hiraide T, Nakashima M, Yamoto K, Fukuda T, Kato M, Ikeda H, Sugie Y, Aoto K, Kaname T, Nakabayashi K, Ogata T, Matsumot N, Saitsu H. De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism.(2018) Hum Genet, 137(1)95-104. 
  5. Ohki S, Hagi T, Nakano K, Shiroma A, Tamotsu H, Shimoji M, Shinzato M, Ashimine N, Minami M, Nakanishi T, Teruya K, Satou K, Moriya N, Kobayashi M, Nomura M, Suzuki C, and Hirano T. Complete Genome Sequence of Carotenoid-Producing Enterococcus gilvus CR1, Isolated from Raw Cow’s Milk. (2018). Microbiol Resour Announc. 7:e00988-18.
  6. Asahina Y, Shiroma A, Nakano K, Tamotsu H, Ashimine N, Shinzato M, Minami M, Shimoji M, Nakanishi T, Ohki S, Teruya K, Satou K, Kobayashi M, Hagi T, Moriya N, Suzuki C, Tajima A, Nomura M, and Hirano T. Complete Genome Sequence of Lactobacillus paracasei EG9, a Strain Accelerating Free Amino Acid Production during Cheese Ripening. (2018). Genome Announc. 6(27):e00627-18.
  7. Ono H, Saitsu H, Horikawa R, Nakashima S, Ohkubo Y, Yanagi K, Nakabayashi K, Fukami M, Fujisawa Y, Ogata T. Partial androgen insensitivity syndrome caused by a deep intronic mutation creating an alternative splice acceptor site of the AR gene. (2018). Sci Rep, 8(1):2287. 
  8. Shioda T, Takahashi S, Kaname T, Yamauchi T, Fukuoka T. MECP2 mutation in a boy with severe apnea and sick sinus syndrome. (2018). Brain Dev, 40(8):714-718. 
  9. Okano S, Miyamoto A, Fukuda I, Tanaka H, Hata K, Kaname T, Matsubara Y, Makita Y. Genitopatellar syndrome: the first reported case in Japan. (2018). Hum Genome Var, 5:8. 
  10. Moriya N, Nakano K, Shiroma A, Shinzato M, Ashimine N, Minami M, Tamotsu H, Shimoji M, Nakanishi T, Ohki S, Teruya K, Satou K, Hirano T, Hagi T, Kobayashi M, Nomura M, Kimoto-Nira H, Tajima K, Yimin Cai, and Suzuki C. Complete Genome Sequence of Lactobacillus plantarum Strain LQ80, Selected for Preparation of Fermented Liquid Feed for Pigs. (2018). Genome Announc. 6(25):e00530-18.
  11. Ikegami K, Aita Y, Shiroma A, Shimoji M, Tamotsu H, Ashimine N, Shinzato M, Ohki S, Nakano K, Teruya K, Satou K, Hirano T, and Yohda M. (2018) Complete Genome Sequence of Petrimonas sp. Strain IBARAKI, Assembled from the Metagenome Data of a Culture Containing Dehalococcoides spp. (2018). Genome Announc. 6(18):e00384-18.
  12. Nakamura Y, Togawa Y, Okuno Y, Muramatsu H, Nakabayashi K, Kuroki Y, Ieda D, Hori I, Negishi Y, Togawa T, Hattori A, Kojima S, Saitoh S. Biallelic mutations in SZT2 cause a discernible clinical entity with epilepsy, developmental delay, macrocephaly and a dysmorphic corpus callosum. (2018). Brain Dev, 40(2):134-139.
  13. Sasaki H, Yanagi K, Ugi S, Kobayashi K, Ohkubo K, Tajiri Y, Maegawa H, Kashiwagi A, Kaname T.  Definitive diagnosis of mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome caused by a recurrent de novo mutation in the POLD1 gene. (2018). Endocr J, 65(2):227-238. 
  14. Nakano K, Minami M, Shinzato M, Shimoji M , Ashimine N, Shiroma A, Ohki S, Nakanishi T, Tamotsu H, Teruya K, Satou K, Moriya N, Kimoto-Nira H, Kobayashi M, Hagi T, Nomura M, Suzuki C, and Hirano T. Complete Genome Sequence of Lactococcus lactis subsp. lactis G50 with Immunostimulating Activity, Isolated from Napier Grass. (2018). Genome Announc. 6(8):e00069-18.
  15. 要 匡:2018年、小児希少・未診断疾患イニシアチブ 実施状況と成果:遺伝カウンセリングの重要性. 日本遺伝カウンセリング学会誌. 2018; 39(1): 25-29.
  16. 柳久美子、要 匡:2018年、次世代シークエンサーを用いた実際の業務と今後の課題・展望 -先天性疾患を中心として-.  日本染色体遺伝子検査. 2018; 36(1): 45-52.
  17. 中島 健、鈴木 保宏、中井 理恵、大星 大観、木水 友一、池田 妙、最上 友紀子、柳原 恵子、要 匡、岡本 伸彦:2018年、非定型欠神発作で発症した発作性失調症2型の男児例 大阪母子医療センター雑誌、33(1-2) 40-44.
  18. 要 匡、秦健一郎、松原洋一:2018年、疾患ゲノム研究最前線 希少疾患 IRUD、医学のあゆみ、266(5) 405-409.
  19. 要 匡:2018年、ヒトゲノム・遺伝子解析に関する倫理指針. 臨床免疫・アレルギー科. 2018:70(6) 549-554.
  20. 養王田正文, 佐藤万仁:2018年、DNA解析装置(シーケンサー) 日経バイオ年鑑2019-研究開発と市場・産業動向(日経バイオテク編集) 日経BP社 2018年.

2017

  1. Chinen Y, Nakamura S, Ganaha A, Hayashi S, Inazawa J, Yanagi K, Kaname T, Nakanishi K, Naritomi K.  Mild prominence of the Sylvian fissure in a Bainbridge-Ropers syndrome patient with a novel frameshift variant in ASXL3.  (2017). Clin Case Rep 6(2):330-336.
  2. Ganaha A, Kaname T, Shinjou A, Chinen Y, Yanagi K, Higa T, Kondo S, Suzuki M. Progressive macrothrombocytopenia and hearing loss in a large family with DIAPH1 related disease. (2017). Am J Med Genet A, 173A(10):2826-2830.
  3. Kozuka C, Kaname T, Shimizu-Okabe C, Takayama C, Tsutsui M, Matsushita M, Abe K, Masuzaki H. Impact of brown rice-specific γ-oryzanol on epigenetic modulation of dopamine D2 receptors in brain striatum in high-fat-diet-induced obesity in mice. (2017). Diabetologia, 60:1502-1511.
  4. Kaname T, Yanagi K. A commentary on ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome. (2017). J Hum Genet, 62:739-740.
  5. Ganaha A, Tono T, Kaname T, Yanagi K, Higa T, Kondo S, Maeda H, Suzuki M. A novel CHD7 variant and cochlear implantation via a suprameatal approach with cartilage protection in a CHARGE patient with Kallmann syndrome phenotype: A Case Report. (2017). Otol Neurotol, 38:990-995.
  6. Kina-Tanada M, Sakanashi M, Tanimoto A, Kaname T, Matsuzaki T, Noguchi K, Uchida T, Nakasone J, Kozuka C, Ishida M, Kubota H, Taira Y, Totsuka Y, Kina SI, Sunakawa H, Omura J, Satoh K, Shimokawa H, Yanagihara N, Maeda S, Ohya Y, Matsushita M, Masuzaki H, Arasaki A, Tsutsui M. Long-term dietary nitrite and nitrate deficiency causes the metabolic syndrome, endothelial dysfunction and cardiovascular death in mice. (2017). Diabetologia, 60:1138-1151.
  7. 要 匡:2017年、小児科診療up-to-date 原因不明遺伝子関連疾患の網羅的解析、ラジオNIKKEI放送内容集、26:19-23.
  8. 要 匡:2017年、難病研究up-to-date 臨床病態解析と新たな診断・治療法開発をめざして、遺伝子医学MOOK、32:36-41.
  9. 要 匡、柳久美子:2017年、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、49巻増刊 699-702.

2015

  1. Chinen Y, Kaneshi T, Kamiya T, Hata K, Nishimura G, Kaname T.:  Progressive hip joint subluxation in Saul-Wilson syndrome.  Am J Med Genet, (2015) Nov;167A(11):2834-8. doi:10.1002/ajmg.a.37278 
  2. Nagasaki M, Yasuda J, Katsuoka F, Nariai N, Kojima K, Kawai Y, Yamaguchi-Kabata Y, Yokozawa J, Danjoh I, Saito S, Sato Y, Mimori T, Tsuda K, Saito R, Pan X, Nishikawa S, Ito S, Kuroki Y, Tanabe O, Fuse N, Kuriyama S, Kiyomoto H, Hozawa A, Minegishi N, Douglas Engel J, Kinoshita K, Kure S, Yaegashi N; ToMMo Japanese Reference Panel Project, Yamamoto M. Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals.  Nat Commun.(2015) Aug 21;6:8018. doi: 10.1038/ncomms9018.