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Development of a newborn ultra-rapid genome screening system beyond newborn mass screening

Research Project

Project/Area Number 18K07863
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Review Section Basic Section 52050:Embryonic medicine and pediatrics-related
Research InstitutionNational Center for Child Health and Development

Principal Investigator

Kaname Tadashi  国立研究開発法人国立成育医療研究センター, ゲノム医療研究部, 部長 (40264288)

Project Period (FY) 2018-04-01 – 2021-03-31
Project Status Completed (Fiscal Year 2020)
Budget Amount *help
¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000)
Fiscal Year 2020: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2019: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2018: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Keywords新生児スクリーニング / 網羅的遺伝子解析 / 遺伝子パネル解析 / FPGA / NGS / 病的バリアント / パネル解析 / 心伝導障害 / 先天代謝異常 / 新生児ゲノムスクリーニング / 次世代シーケンサ / 解析迅速化 / 新生児マス・スクリーニング / 迅速診断
Outline of Final Research Achievements

This study is based on genome analysis for genetic diseases that are important to be detected in the neonatal period, such as inborn errors of metabolism and long QT syndrome, which cannot be diagnosed by newborn mass screening based on tandem mass analysis. The purpose was to construct a system that can be covered the diseases widely and can be detected by screening in a shorter time than immediately after birth.
Rapid DNA purification from blood, 1172 genes panel (inborn errors of metabolism, heart disease/conduction disorder, immune diseases, etc.), the human genome reference mapping/variants calling/annotation using FPGA were combined and constructed the system. Using the system, pathogenic variants of the SCL25A20 gene, the KCNH2 and other genes were practically confirmed.
Although this screening system is costly, it was possible to detect variants within 72 hours.

Academic Significance and Societal Importance of the Research Achievements

本研究は、現在行われている新生児マス・スクリーニングでカバーできない疾患、期間を解消するための、試行的研究である。
本研究では、次世代ゲノム解析を中心として、1)現在のマス・スクリーニングがカバーしていないが小児期診断が重要な疾患も対象とできること、2)症状等が現れる前の早期の段階で見出すことができること、を目指したスクリーニングシステムを構築した。研究成果は、コスト面の問題が残るものの、新生児期に治療等で防げる重要な疾患を見出すことが可能で、本システムを発展させることにより、当該疾患の頻度や傾向に関する研究および小児医療に貢献できると思われる。

Report

(4 results)
  • 2020 Annual Research Report   Final Research Report ( PDF )
  • 2019 Research-status Report
  • 2018 Research-status Report
  • Research Products

    (69 results)

All 2021 2020 2019 2018 Other

All Int'l Joint Research (1 results) Journal Article (46 results) (of which Int'l Joint Research: 3 results,  Peer Reviewed: 42 results,  Open Access: 13 results) Presentation (22 results) (of which Int'l Joint Research: 7 results,  Invited: 7 results)

  • [Int'l Joint Research] Western University/London Health Sciences Centre(カナダ)

    • Related Report
      2020 Annual Research Report
  • [Journal Article] Stimulator of Interferon Genes-associated Vasculopathy with an Onset in Infancy Diagnosed after the Development of Atypical Pulmonary Lesions During Treatment as Juvenile Idiopathic Arthritis2021

    • Author(s)
      Nishida Tomoya、Nakano Kazuhisa、Inoue Yoshino、Narumi-Kishimoto Yoko、Kaname Tadashi、Akashi Koichi、Tanaka Yoshiya
    • Journal Title

      Internal Medicine

      Volume: 60 Issue: 7 Pages: 1109-1114

    • DOI

      10.2169/internalmedicine.5305-20

    • NAID

      130008014359

    • ISSN
      0918-2918, 1349-7235
    • Year and Date
      2021-04-01
    • Related Report
      2020 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A case of severe autosomal dominant spinal muscular atrophy with lower extremity predominance caused by a de novo BICD2 mutation2021

    • Author(s)
      Ueda Yuki、Suganuma Takashi、Narumi-Kishimoto Yoko、Kaname Tadashi、Sato Tomonobu
    • Journal Title

      Brain and Development

      Volume: 43 Issue: 1 Pages: 135-139

    • DOI

      10.1016/j.braindev.2020.08.006

    • Related Report
      2020 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A novel stop-gain CUL3 mutation in a Japanese patient with autism spectrum disorder2021

    • Author(s)
      Iwafuchi Sota、Kikuchi Atsuo、Endo Wakaba、Inui Takehiko、Aihara Yu、Satou Kazuhito、Kaname Tadashi、Kure Shigeo
    • Journal Title

      Brain and Development

      Volume: 43 Issue: 2 Pages: 303-307

    • DOI

      10.1016/j.braindev.2020.09.015

    • Related Report
      2020 Annual Research Report
    • Peer Reviewed
  • [Journal Article] X-linked mental retardation and severe short stature with a novel mutation of the <i>KDM5C</i> gene2021

    • Author(s)
      Kawano-Matsuda F, Maeda T, Kaname T, Yanagi K, Ihara K
    • Journal Title

      Clinical Pediatric Endocrinology

      Volume: 30 Issue: 1 Pages: 61-64

    • DOI

      10.1297/cpe.30.61

    • NAID

      130007966051

    • ISSN
      0918-5739, 1347-7358
    • Related Report
      2020 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Rapid-onset dystonia-parkinsonism with ATP1A3 mutation and left lower limb paroxysmal dystonia2021

    • Author(s)
      Nomura Shohei、Kashiwagi Mitsuru、Tanabe Takuya、Oba Chizu、Yanagi Kumiko、Kaname Tadashi、Okamoto Nobuhiko、Ashida Akira
    • Journal Title

      Brain and Development

      Volume: 43 Issue: 4 Pages: 566-570

    • DOI

      10.1016/j.braindev.2020.12.009

    • Related Report
      2020 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities2021

    • Author(s)
      Chowdhury F, Wang L, Kaname T(17番目)
    • Journal Title

      Genetics in Medicine

      Volume: - Issue: 7 Pages: 1234-1245

    • DOI

      10.1038/s41436-021-01129-6

    • Related Report
      2020 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Autoimmune hemolytic anemia associated with Takenouchi-Kosaki syndrome2021

    • Author(s)
      Ishikawa K, Uchiyama T, Kaname T, Kawai T, Ishiguro A
    • Journal Title

      Pediatr Int,in press

      Volume: -

    • Related Report
      2020 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A novel missense variant of the GNAI3 gene and recognisable morphological characteristics of the mandibula in ARCND12021

    • Author(s)
      Yanagi K, Morimoto N, Iso M, Abe Y, Okamura K, Nakamura T, Matsubara Y, Kaname T
    • Journal Title

      J Hum Genet

      Volume: - Issue: 10 Pages: 1029-1034

    • DOI

      10.1038/s10038-021-00915-z

    • Related Report
      2020 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Deep intronic deletion in intron 3 of PLP1 is associated with a severe phenotype of Pelizaeus-Merzbacher disease2021

    • Author(s)
      Yamamoto-Shimojima Keiko、Akagawa Hiroyuki、Yanagi Kumiko、Kaname Tadashi、Okamoto Nobuhiko、Yamamoto Toshiyuki
    • Journal Title

      Human Genome Variation

      Volume: 8 Issue: 1 Pages: 14-14

    • DOI

      10.1038/s41439-021-00144-y

    • Related Report
      2020 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] ETV6-related thrombocytopenia associated with a transient decrease in von Willebrand factor2021

    • Author(s)
      Kanamaru Yuri、Uchiyama Toru、Kaname Tadashi、Yanagi Kumiko、Ohara Osamu、Kunishima Shinji、Ishiguro Akira
    • Journal Title

      International Journal of Hematology

      Volume: - Issue: 2 Pages: 297-300

    • DOI

      10.1007/s12185-021-03136-4

    • Related Report
      2020 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Blended phenotype of combination of HERC2 and AP3B2 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15.2021

    • Author(s)
      Ueda K, Ogawa S, Matsuda K, Hasegawa Y, Nishi E, Yanagi K, Kaname T, Yamamoto T, Okamoto N
    • Journal Title

      Am J Med Genet A

      Volume: -

    • Related Report
      2020 Annual Research Report
    • Peer Reviewed
  • [Journal Article] HECW2-related disorder in four Japanese patients2021

    • Author(s)
      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
    • Journal Title

      Am J Med Genet A

      Volume: -

    • Related Report
      2020 Annual Research Report
    • Peer Reviewed
  • [Journal Article] 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2021

    • Author(s)
      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
    • Journal Title

      日本小児科学会雑誌

      Volume: 125 Pages: 37-41

    • NAID

      40022468261

    • Related Report
      2020 Annual Research Report
    • Peer Reviewed
  • [Journal Article] 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2021

    • Author(s)
      田中亮介、黒田真実、竹口 諒、福村 忍、要 匡、高橋 悟
    • Journal Title

      脳と発達

      Volume: 53 Pages: 129-132

    • NAID

      130008028469

    • Related Report
      2020 Annual Research Report
    • Peer Reviewed
  • [Journal Article] 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2021

    • Author(s)
      要 匡、後藤雄一
    • Journal Title

      臨床病理レビュー

      Volume: 165 Pages: 2-7

    • Related Report
      2020 Annual Research Report
  • [Journal Article] 小児希少疾患における網羅的遺伝子解析法の活用2021

    • Author(s)
      要 匡
    • Journal Title

      周産期医学

      Volume: 51 Pages: 715-718

    • Related Report
      2020 Annual Research Report
  • [Journal Article] A case report of rare ZC4H2 ‐associated disorders associated with three large hernias2020

    • Author(s)
      Nagara Syunsuke、Fukaya Satoko、Muramatsu Yukako、Kaname Tadashi、Tanaka Taihei
    • Journal Title

      Pediatrics International

      Volume: 62 Issue: 8 Pages: 985-986

    • DOI

      10.1111/ped.14211

    • Related Report
      2020 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients: clinical and autopsy data.2020

    • Author(s)
      Chinen Y, Yanagi K, Nakamura S, Nakayama N, Kamiya M, Nakayashiro M, Kaname T, Naritomi K, Nakanishi K.
    • Journal Title

      Hum Genome Var

      Volume: - Issue: 1 Pages: 11-11

    • DOI

      10.1038/s41439-020-0098-y

    • NAID

      120006892751

    • Related Report
      2020 Annual Research Report 2019 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] A commentary on germline mutations of multiple breast cancer-related genes are differentially associated with triple-negative breast cancers and prognostic factors.2020

    • Author(s)
      Kaname T.
    • Journal Title

      J Hum Genet

      Volume: 65 Issue: 7 Pages: 589-590

    • DOI

      10.1038/s10038-020-0767-1

    • Related Report
      2020 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome2020

    • Author(s)
      Murakami H, Tsurusaki Y, Enomoto K, Kuroda Y, Yokoi T, 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, Kuroki Y, Kurosawa K. et al.
    • Journal Title

      American Journal of Medical Genetics Part A

      Volume: 182 Issue: 10 Pages: 2333-2344

    • DOI

      10.1002/ajmg.a.61793

    • Related Report
      2020 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Biallelic SZT2 variants in a child with developmental and epileptic encephalopathy.2020

    • Author(s)
      Tanaka R, Takahashi S, Kuroda M, Takeguchi R, Suzuki N, Makita Y, Narumi-Kishimoto Y, Kaname T.
    • Journal Title

      Epileptic Disord

      Volume: 22 Issue: 4 Pages: 501-505

    • DOI

      10.1684/epd.2020.1187

    • Related Report
      2020 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A severe case of status dystonicus caused by a de novo KMT2B missense mutation2020

    • Author(s)
      Nakamura Sadao、Chinen Yasutsugu、Satou Kazuhito、Tokashiki Takashi、Kumada Satoko、Yanagi Kumiko、Kaname Tadashi、Naritomi Kenji、Nakanishi Koichi
    • Journal Title

      European Journal of Medical Genetics

      Volume: 63 Issue: 11 Pages: 104057-104057

    • DOI

      10.1016/j.ejmg.2020.104057

    • Related Report
      2020 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Severe gastrointestinal symptoms caused by a novel DDX3X variant2020

    • Author(s)
      Okano S, Miyamoto A, Makita Y, Taketazu G, Kimura K, Fukuda I, Tanaka H, Yanagi K, Kaname T
    • Journal Title

      Eur J Med Genet

      Volume: 63 Issue: 12 Pages: 104058-104058

    • DOI

      10.1016/j.ejmg.2020.104058

    • Related Report
      2020 Annual Research Report
    • Peer Reviewed
  • [Journal Article] 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-sulfatase2020

    • Author(s)
      Fukuhara Y, Miura A, Yamazaki N, So T, Kosuga M, Yanagi K, Kaname T, Yamagata T, Sakuraba H, Okuyama T
    • Journal Title

      Mol Genet Metab Rep

      Volume: 25 Pages: 100692-100692

    • DOI

      10.1016/j.ymgmr.2020.100692

    • Related Report
      2020 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] IRUD(Initiative on Rare and Undiagnosed Diseases)による希少疾患の遺伝学的解析の成果2020

    • Author(s)
      要 匡
    • Journal Title

      小児科臨床

      Volume: 73 Pages: 551-554

    • Related Report
      2020 Annual Research Report
  • [Journal Article] 〔医療と人工知能の接点〕希少疾患診断とAI2020

    • Author(s)
      要 匡
    • Journal Title

      JOHNS

      Volume: 36 Pages: 1602-1605

    • Related Report
      2020 Annual Research Report
  • [Journal Article] An extremely severe case of Aicardi-Gouti?res syndrome 7 with a novel variant in IFIH12020

    • Author(s)
      Amari Shoichiro、Tsukamoto Keiko、Ishiguro Akira、Yanagi Kumiko、Kaname Tadashi、Ito Yushi
    • Journal Title

      European Journal of Medical Genetics

      Volume: 63 Issue: 2 Pages: 103646-103646

    • DOI

      10.1016/j.ejmg.2019.04.003

    • Related Report
      2019 Research-status Report 2018 Research-status Report
    • Peer Reviewed
  • [Journal Article] Novel biallelic FA2H mutations in a Japanese boy with fatty acid hydroxylase-associated neurodegeneration2020

    • Author(s)
      Kawaguchi Masahiro、Sassa Takayuki、Kidokoro Hiroyuki、Nakata Tomohiko、Kato Kohji、Muramatsu Hideki、Okuno Yusuke、Yamamoto Hiroyuki、Kaname Tadashi、Kihara Akio、Natsume Jun
    • Journal Title

      Brain and Development

      Volume: 42 Issue: 2 Pages: 217-221

    • DOI

      10.1016/j.braindev.2019.11.006

    • Related Report
      2019 Research-status Report
    • Peer Reviewed
  • [Journal Article] POLR3A variants in striatal involvement without diffuse hypomyelination2020

    • Author(s)
      Hiraide Takuya、Kubota Kazuo、Kono Yu、Watanabe Seiji、Matsubayashi Tomoko、Nakashima Mitsuko、Kaname Tadashi、Fukao Toshiyuki、Shimozawa Nobuyuki、Ogata Tsutomu、Saitsu Hirotomo
    • Journal Title

      Brain and Development

      Volume: 42 Issue: 4 Pages: 363-368

    • DOI

      10.1016/j.braindev.2019.12.012

    • NAID

      120007038334

    • Related Report
      2019 Research-status Report
    • Peer Reviewed
  • [Journal Article] The CFTR gene variants in Japanese children with idiopathic pancreatitis2019

    • Author(s)
      Iso Manami、Suzuki Mitsuyoshi、Yanagi Kumiko、Minowa Kei、Sakurai Yumiko、Nakano Satoshi、Satou Kazuhito、Shimizu Toshiaki、Kaname Tadashi
    • Journal Title

      Human Genome Variation

      Volume: 6 Issue: 1 Pages: 17-17

    • DOI

      10.1038/s41439-019-0049-7

    • Related Report
      2019 Research-status Report 2018 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation2019

    • Author(s)
      Chinen Yasutsugu、Nakamura Sadao、Kaneshi Takuya、Nakayashiro Mami、Yanagi Kumiko、Kaname Tadashi、Naritomi Kenji、Nakanishi Koichi
    • Journal Title

      Human Genome Variation

      Volume: 6 Issue: 1 Pages: 23-23

    • DOI

      10.1038/s41439-019-0053-y

    • NAID

      120006845622

    • Related Report
      2019 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Elucidation of the pathogenic mechanism and potential treatment strategy for a female patient with spastic paraplegia derived from a single-nucleotide deletion in PLP12019

    • Author(s)
      Yamamoto-Shimojima Keiko、Imaizumi Taichi、Aoki Yusuke、Inoue Ken、Kaname Tadashi、Okuno Yusuke、Muramatsu Hideki、Kato Kohji、Yamamoto Toshiyuki
    • Journal Title

      Journal of Human Genetics

      Volume: 未定 Issue: 7 Pages: 665-671

    • DOI

      10.1038/s10038-019-0600-x

    • Related Report
      2019 Research-status Report
    • Peer Reviewed
  • [Journal Article] KLF11 variant in a family clinically diagnosed with early childhood‐onset type 1B diabetes2019

    • Author(s)
      Ushijima Kikumi、Narumi Satoshi、Ogata Tsutomu、Yokota Ichiro、Sugihara Shigetaka、Kaname Tadashi、Horikawa Yukio、Matsubara Yoichi、Fukami Maki、Kawamura Tomoyuki、The Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes
    • Journal Title

      Pediatric Diabetes

      Volume: 20 Pages: 712-719

    • DOI

      10.1111/pedi.12868

    • Related Report
      2019 Research-status Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Clinical characteristics with long-term follow-up of four Okinawan families with moderate hearing loss caused by an OTOG variant2019

    • Author(s)
      Ganaha Akira、Kaname Tadashi、Yanagi Kumiko、Tono Tetsuya、Higa Teruyuki、Suzuki Mikio
    • Journal Title

      Human Genome Variation

      Volume: 6 Issue: 1 Pages: 37-37

    • DOI

      10.1038/s41439-019-0068-4

    • Related Report
      2019 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Parental somatogonadal COL2A1 mosaicism contributes to intrafamilial recurrence in a family with type 2 collagenopathy2019

    • Author(s)
      Yamamoto Kenichi、Kubota Takuo、Takeyari Shinji、Kitaoka Taichi、Miyata Kei、Nakano Yukako、Nakayama Hirofumi、Ohata Yasuhisa、Yanagi Kumiko、Kaname Tadashi、Okada Yukinori、Ozono Keiichi
    • Journal Title

      American Journal of Medical Genetics Part A

      Volume: 182 Issue: 3 Pages: 454-460

    • DOI

      10.1002/ajmg.a.61422

    • Related Report
      2019 Research-status Report
    • Peer Reviewed
  • [Journal Article] Normal early development in siblings with novel compound heterozygous variants in ASPM2019

    • Author(s)
      Moriwaki Taro、Yamazaki Narutoshi、So Tetsumin、Kosuga Motomichi、Miyazaki Osamu、Narumi-Kishimoto Yoko、Kaname Tadashi、Nishimura Gen、Okuyama Torayuki、Fukuhara Yasuyuki
    • Journal Title

      Human Genome Variation

      Volume: 6 Issue: 1 Pages: 56-56

    • DOI

      10.1038/s41439-019-0088-0

    • Related Report
      2019 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Recurrent de novo MAPK8IP3 variants cause neurological phenotypes2019

    • Author(s)
      Iwasawa Shinya、Yanagi Kumiko、Kikuchi Atsuo、Kobayashi Yasuko、Haginoya Kazuhiro、Matsumoto Hiroshi、Kurosawa Kenji、Ochiai Masayuki、Sakai Yasunari、Fujita Atsushi、Miyake Noriko、Niihori Tetsuya、ら
    • Journal Title

      Annals of Neurology

      Volume: - Issue: 6 Pages: 927-933

    • DOI

      10.1002/ana.25481

    • Related Report
      2018 Research-status Report
    • Peer Reviewed
  • [Journal Article] Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures2019

    • Author(s)
      Nakashima Mitsuko、Tohyama Jun、Nakagawa Eiji、Watanabe Yoshihiro、Siew Ch’ng Gaik、Kwong Chieng Siik、Yamoto Kaori、Hiraide Takuya、Fukuda Tokiko、Kaname Tadashi、Nakabayashi Kazuhiko、Hata Kenichiro、Ogata Tsutomu、Saitsu Hirotomo、Matsumoto Naomichi
    • Journal Title

      Journal of Human Genetics

      Volume: 64 Issue: 4 Pages: 313-322

    • DOI

      10.1038/s10038-018-0559-z

    • Related Report
      2018 Research-status Report
    • Peer Reviewed
  • [Journal Article] A novel mutation in the GATAD2B gene associated with severe intellectual disability2019

    • Author(s)
      Ueda Kimiko、Yanagi Kumiko、Kaname Tadashi、Okamoto Nobuhiko
    • Journal Title

      Brain and Development

      Volume: 41 Issue: 3 Pages: 276-279

    • DOI

      10.1016/j.braindev.2018.10.003

    • Related Report
      2018 Research-status Report
    • Peer Reviewed
  • [Journal Article] Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome2018

    • Author(s)
      Narumi-Kishimoto Yoko、Araki Naomi、Migita Ohsuke、Kawai Tomoko、Okamura Kohji、Nakabayashi Kazuhiko、Kaname Tadashi、Ozawa Yuri、Ozawa Hiroshi、Takada Fumio、Hata Kenichiro
    • Journal Title

      European Journal of Medical Genetics

      Volume: in press Issue: 9 Pages: 1-1

    • DOI

      10.1016/j.ejmg.2018.09.014

    • Related Report
      2018 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Japanese patient with Cole-carpenter syndrome with compound heterozygous variants of SEC24D2018

    • Author(s)
      Takeyari Shinji、Kubota Takuo、Miyata Kei、Yamamoto Kenichi、Nakayama Hirofumi、Yamamoto Keiko、Ohata Yasuhisa、Kitaoka Taichi、Yanagi Kumiko、Kaname Tadashi、Ozono Keiichi
    • Journal Title

      American Journal of Medical Genetics Part A

      Volume: 176 Issue: 12 Pages: 2882-2886

    • DOI

      10.1002/ajmg.a.40643

    • Related Report
      2018 Research-status Report
    • Peer Reviewed
  • [Journal Article] Genitopatellar syndrome: the first reported case in Japan2018

    • Author(s)
      Okano Satomi、Miyamoto Akie、Fukuda Ikue、Tanaka Hajime、Hata Kenichiro、Kaname Tadashi、Matsubara Yoichi、Makita Yoshio
    • Journal Title

      Human Genome Variation

      Volume: 5 Issue: 1 Pages: 8-8

    • DOI

      10.1038/s41439-018-0010-1

    • Related Report
      2018 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] MECP2 mutation in a boy with severe apnea and sick sinus syndrome2018

    • Author(s)
      Shioda Tsutomu、Takahashi Satoru、Kaname Tadashi、Yamauchi Toyohiro、Fukuoka Tetsuya
    • Journal Title

      Brain and Development

      Volume: 40 Issue: 8 Pages: 714-718

    • DOI

      10.1016/j.braindev.2018.03.008

    • Related Report
      2018 Research-status Report
    • Peer Reviewed
  • [Journal Article] Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders2018

    • Author(s)
      Mizuguchi Takeshi、Kurahashi Hirokazu、et al.
    • Journal Title

      Human Molecular Genetics

      Volume: 27 Issue: 8 Pages: 1421-1433

    • DOI

      10.1093/hmg/ddy052

    • Related Report
      2018 Research-status Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] An unclassified variant of CHD7 activates a cryptic splice site in a patient with CHARGE syndrome2018

    • Author(s)
      Katoh-Fukui Yuko、Yatsuga Shuichi、Shima Hirohito、Hattori Atsushi、Nakamura Akie、Okamura Kohji、Yanagi Kumiko、Iso Manami、Kaname Tadashi、Matsubara Yoichi、Fukami Maki
    • Journal Title

      Human Genome Variation

      Volume: 5 Issue: 1 Pages: 18006-18006

    • DOI

      10.1038/hgv.2018.6

    • Related Report
      2018 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism2018

    • Author(s)
      Hiraide Takuya、Nakashima Mitsuko、Yamoto Kaori、Fukuda Tokiko、Kato Mitsuhiro、Ikeda Hiroko、Sugie Yoko、Aoto Kazushi、Kaname Tadashi、Nakabayashi Kazuhiko、Ogata Tsutomu、Matsumoto Naomichi、Saitsu Hirotomo
    • Journal Title

      Human Genetics

      Volume: 137 Issue: 1 Pages: 95-104

    • DOI

      10.1007/s00439-017-1863-y

    • Related Report
      2018 Research-status Report
    • Peer Reviewed / Open Access
  • [Presentation] 小児遺伝が拓くゲノム医療2021

    • Author(s)
      要 匡
    • Organizer
      第43回日本小児遺伝学会学術集会
    • Related Report
      2020 Annual Research Report
    • Invited
  • [Presentation] Achievements of comprehensive genome analysis for undiagnosed diseases in an IRUD analysis center2020

    • Author(s)
      Kaname T, Omata M, Igarashi A, Satou K, Yanagi K, Matsubara Y
    • Organizer
      第43回日本分子生物学会年会
    • Related Report
      2020 Annual Research Report
  • [Presentation] 希少疾患診断とAI2020

    • Author(s)
      要 匡
    • Organizer
      第65回日本人類遺伝学会
    • Related Report
      2020 Annual Research Report
    • Invited
  • [Presentation] Recognizable morphological characteristics of mandibular jaw distinguishing ARCND1 from other micrognathism2020

    • Author(s)
      Yanagi K, Morimoto N, Matsubara Y, Kaname T
    • Organizer
      第65回日本人類遺伝学会
    • Related Report
      2020 Annual Research Report
  • [Presentation] A novel variant within the G4 box of GNAI3, one of the catalytic domains of guanine nucleotide-binding, in a Japanese patient with Auriculocondylar syndrome 12020

    • Author(s)
      Yanagi K, Morimoto N, Kobayashi M, Abe Y, Matsubara Y, Kaname T
    • Organizer
      ASHG
    • Related Report
      2020 Annual Research Report
    • Int'l Joint Research
  • [Presentation] A novel KIAA0355 variant in a patient with intellectual disability and cerebellar atrophy2020

    • Author(s)
      Okamoto N, Hasegawa Y, Nishi E, Shibukawa Y, Yanagi K, Kaname T
    • Organizer
      ASHG
    • Related Report
      2020 Annual Research Report
    • Int'l Joint Research
  • [Presentation] 希少・未診断疾患イニシアチブの進展と課題2020

    • Author(s)
      要 匡
    • Organizer
      第44回日本遺伝カウンセリング学会学術集会
    • Related Report
      2020 Annual Research Report
    • Invited
  • [Presentation] AIを応用した希少・難病の診断支援システムの開発2020

    • Author(s)
      要 匡、成富 研二、松原 洋一
    • Organizer
      第123回日本小児科学会学術集会
    • Related Report
      2020 Annual Research Report
    • Invited
  • [Presentation] A variant of MAP3K7(S192G) causes dominant-negative effect and affects a congenital anomaly syndrome2020

    • Author(s)
      Kaname T, Yanagi K, Kondo S, Saito K, Ishitani T, Kobayashi N, Abe Y, Tohma T, Matsubara Y
    • Organizer
      第92回日本遺伝学会
    • Related Report
      2020 Annual Research Report
  • [Presentation] A novel deletion in ZEB2 and biallelic frameshift variants in CNKSR1 identified in a patient dysmorphologically diagnosed with Mowat-Wilson syndrome2020

    • Author(s)
      Kaname T, Yanagi K, Takeshita M, Omata M, Kobayashi N, Abe Y, Naritomi K, Matsubara Y
    • Organizer
      ESHG
    • Related Report
      2020 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Japanese girl with a novel variant of PIK3R1 showed deterioration of insulin resistance to biguanide treatment2020

    • Author(s)
      11.Yanagi K, Toguchi S, Satou K, Inoue M, Naritomi K, Matsubara Y, Kaname T
    • Organizer
      ESHG
    • Related Report
      2020 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Efficacy of variant prediction tools on large-scale analysis using whole exome sequence in rare diseases2019

    • Author(s)
      Yanagi K, Satou K, Kishimoto Y, Nakabayashi K, Okamura K, Hata K, Matsubara Y, Kaname T
    • Organizer
      VEPTC 2019
    • Related Report
      2019 Research-status Report
    • Int'l Joint Research
  • [Presentation] A novel missense variant of MAP3K7 causes cardiospondylocarpofacial syndrome by dominant negative effect2019

    • Author(s)
      Kaname T, Saito K, Yanagi K, Takeshita M, Kobayashi N, Tohma T, Inoue I, Matsubara Y
    • Organizer
      The European Society of Human Genetics (ESHG) 2019
    • Related Report
      2019 Research-status Report
    • Int'l Joint Research
  • [Presentation] Biallelic frameshift variants in CNKSR1 and a novel deletion in ZEB2 identified in a patient dysmorphologically diagnosed with Mowat-Wilson syndrome2019

    • Author(s)
      T. Kaname, K. Yanagi, M. Takeshita, K. Naritomi, Y. Matsubara
    • Organizer
      The American Society of Human Genetics 2019 Annual Meeting
    • Related Report
      2019 Research-status Report
    • Int'l Joint Research
  • [Presentation] 14.A novel pathogenic variant of PURA in a patient with severe developmental delay, delayed myelination and empty sella2018

    • Author(s)
      Kaname T, et al.
    • Organizer
      The European Society of Human Genetics (ESHG) 2018
    • Related Report
      2018 Research-status Report
  • [Presentation] 全遺伝子検索と小児突然死2018

    • Author(s)
      要 匡
    • Organizer
      第65回日本小児保健協会学術集会
    • Related Report
      2018 Research-status Report
    • Invited
  • [Presentation] IRUD と IRUD Beyond2018

    • Author(s)
      要 匡
    • Organizer
      第42回日本遺伝カウンセリング学会学術集会
    • Related Report
      2018 Research-status Report
    • Invited
  • [Presentation] ロングリードシーケンサの活用と臨床シーケンス2018

    • Author(s)
      要 匡
    • Organizer
      日本人類遺伝学会 第63回大会
    • Related Report
      2018 Research-status Report
    • Invited
  • [Presentation] 希少・未診断疾患を対象とした大規模全エクソーム解析の俯瞰的分析2018

    • Author(s)
      佐藤万仁 他
    • Organizer
      日本人類遺伝学会 第63回大会
    • Related Report
      2018 Research-status Report
  • [Presentation] A severe case of Aicardi-Goutieres Syndrome-7 with novel pathogenic variant in IFIH12018

    • Author(s)
      Kaname T, et al.
    • Organizer
      ASHG2018
    • Related Report
      2018 Research-status Report
  • [Presentation] Variants of the CFTR gene in Japanese patients with childhood pancreatitis2018

    • Author(s)
      Iso M, et al.
    • Organizer
      APPSPGHAN2018
    • Related Report
      2018 Research-status Report
  • [Presentation] 希少・未診断疾患を対象とした大規模全エクソーム解析における次世代シーケンサーの評価2018

    • Author(s)
      佐藤万仁 他
    • Organizer
      第41回日本分子生物学会年会
    • Related Report
      2018 Research-status Report

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Published: 2018-04-23   Modified: 2022-01-27  

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