Tsurusaki Yoshinori 鶴崎美徳

… Alternative Names

TSURUSAKI Yoshinori 鶴崎美徳

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Researcher Number	70392040
Other IDs	https://orcid.org/0000-0002-7240-6355
Affiliation (Current)	2024: 相模女子大学, 栄養科学部, 教授
Affiliation (based on the past Project Information) *help	2019 – 2022: 相模女子大学, 栄養科学部, 准教授 2016 – 2018: 地方独立行政法人神奈川県立病院機構神奈川県立こども医療センター(臨床研究所), 臨床研究所, 主任研究員 2016: 地方独立行政法人神奈川県立病院機構, 神奈川県立こども医療センター・臨床研究所, 主任研究員 2015: 地方独立行政法人神奈川県立病院機構神奈川県立こども医療センター(臨床研究所), その他部局等, 主任研究員 2013 – 2014: 横浜市立大学, 医学部, 助教
Review Section/Research Field	Principal Investigator Embryonic/Neonatal medicine / Biomedical structure and function and related fields Except Principal Investigator Basic Section 57070:Developmental dentistry-related / Pediatrics
Keywords	Principal Investigator 疾患責任遺伝子 / RNAシークエンス解析 / スプライスサイト変異 / 発現変動遺伝子 / スプライス異常 / RNAシークエンス / 次世代シークエンス解析 / Coffin-Siris症候群 / 先天異常学 / コフィン・サイリス症候群 / 全エクソーム解析 / Coffin-Siris 症候群 … More Except Principal Investigator … More 早期診断 / 原因遺伝子 / 舌形態異常 / 舌挺出関連遺伝子 / 頭部エックス線規格写真解析 / 3D画像解析 / 舌挺出 / ３Dカメラ / 舌突出 / 健常児 / 症候群 / 舌機能 / 歯列咬合異常 / 舌・口唇機能 / 管理効果 / 咬合状態 / 口唇圧 / 舌圧 / 口腔機能発達不全 / 舌形態 / 口腔機能 / 歯列咬合 / ダウン症 / 次世代シーケンサー / エクソーム / copy number variant / ゲノム支援 / マイクロアレイ / エクソーム解析 / 次世代シーケンス / 精神遅滞 / 多発奇形 Less

Study for the diagnosis of tongue morphogenesis in the syndromes with growth disorder
- Principal Investigator
  
  SASAKI YASUNORI
- Project Period (FY)
  2018 – 2022
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 57070:Developmental dentistry-related
- Research Institution
  Showa University
  Kanagawa Children's Medical Center (Clinical Research Institute)
Identification of Mendelian disease-causing genes by RNA sequencingPrincipal Investigator
- Principal Investigator
  
  Tsurusaki Yoshinori
- Project Period (FY)
  2017 – 2019
- Research Category
  
  Grant-in-Aid for Challenging Research (Exploratory)
- Research Field
  
  Biomedical structure and function and related fields
- Research Institution
  Sagami Women's University
  Kanagawa Children's Medical Center (Clinical Research Institute)
The search for causative gene in Coffin-Siris syndromePrincipal Investigator
- Principal Investigator
  
  Tsurusaki Yoshinori
- Project Period (FY)
  2015 – 2016
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Embryonic/Neonatal medicine
- Research Institution
  Kanagawa Children's Medical Center (Clinical Research Institute)
Genetic and genomic analysis on the patients with multiple congenital anomalies
- Principal Investigator
  
  Kurosawa Kenji
- Project Period (FY)
  2014 – 2016
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Kanagawa Children's Medical Center (Clinical Research Institute)
Identification of disease-causing genes for Coffin-Siris syndromePrincipal Investigator
- Principal Investigator
  
  TSURUSAKI Yoshinori
- Project Period (FY)
  2013 – 2014
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Embryonic/Neonatal medicine
- Research Institution
  Yokohama City University

All 2020 2019 2018 2017 2016 2015 2014 2013 Other

All Journal Article Presentation

[Journal Article] Blended phenotype of AP4E1 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 152020
- Author(s)
  Murakami Hiroaki、Uehara Tomoko、Tsurusaki Yoshinori、Enomoto Yumi、Kuroda Yukiko、Aida Noriko、Kosaki Kenjiro、Kurosawa Kenji
- Journal Title
  
  Brain and Development
  
  Volume: 42 Issue: 3 Pages: 289-292
- DOI
  10.1016/j.braindev.2019.12.008
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K19536
[Journal Article] Novel CUL7 biallelic mutations alter the skeletal phenotype of 3M syndrome2020
- Author(s)
  Takizaki Nao、Tsurusaki Yoshinori、Katsumata Kaoru、Enomoto Yumi、Murakami Hiroaki、Muroya Koji、Ishikawa Hiroshi、Aida Noriko、Nishimura Gen、Kurosawa Kenji
- Journal Title
  
  Human Genome Variation
  
  Volume: 7 Issue: 1 Pages: 1-1
- DOI
  10.1038/s41439-020-0090-6
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K10069, KAKENHI-PROJECT-17K19536
[Journal Article] Discordant phenotype caused by CASK mutation in siblings with NF12019
- Author(s)
  Murakami Hiroaki、Kimura Yuichi、Enomoto Yumi、Tsurusaki Yoshinori、Akahira-Azuma Moe、Kuroda Yukiko、Tsuji Megumi、Goto Tomohide、Kurosawa Kenji
- Journal Title
  
  Human Genome Variation
  
  Volume: 6 Issue: 1 Pages: 20-20
- DOI
  10.1038/s41439-019-0051-0
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K10069, KAKENHI-PROJECT-17K19536
[Journal Article] Pathogenic variants of DYNC2H1, KIAA0556, and PTPN11 associated with hypothalamic hamartoma2019
- Author(s)
  Fujita Atsushi、Higashijima Takefumi、Shirozu Hiroshi、Masuda Hiroshi、Sonoda Masaki、Tohyama Jun、Kato Mitsuhiro、Nakashima Mitsuko、Tsurusaki Yoshinori、Mitsuhashi Satomi、Mizuguchi Takeshi、Takata Atsushi、Miyatake Satoko、Miyake Noriko、Fukuda Masafumi、Kameyama Shigeki、Saitsu Hirotomo、Matsumoto Naomichi
- Journal Title
  
  Neurology
  
  Volume: 93 Issue: 3
- DOI
  10.1212/wnl.0000000000007774
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-16K09975, KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17K19536
[Journal Article] Novel <i>VRK1</i> Mutations in a Patient with Childhood-onset Motor Neuron Disease2019
- Author(s)
  Yamaura Genpei、Higashiyama Yuichi、Kusama Kaori、Kunii Misako、Tanaka Kenichi、Koyano Shigeru、Nakashima Mitsuko、Tsurusaki Yoshinori、Miyake Noriko、Saitsu Hirotomo、Iwahashi Yukiko、Joki Hideto、Matsumoto Naomichi、Doi Hiroshi、Tanaka Fumiaki
- Journal Title
  
  Intern. Med.
  
  Volume: 58 Issue: 18 Pages: 2715-2719
- DOI
  10.2169/internalmedicine.2126-18
- NAID
  130007706950
- ISSN
  0918-2918, 1349-7235
- Year and Date
  2019-09-15
- Language
  English
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K07503, KAKENHI-PROJECT-18K07504, KAKENHI-PROJECT-19K17014, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-17K19536
[Journal Article] A novel gene (FAM20B encoding glycosaminoglycan xylosylkinase) for neonatal short limb dysplasia resembling Desbuquois dysplasia2019
- Author(s)
  Kuroda Yukiko、Murakami Hiroaki、Enomoto Yumi、Tsurusaki Yoshinori、Takahashi Kazumi、Mitsuzuka Kanako、Ishimoto Hitoshi、Nishimura Gen、Kurosawa Kenji
- Journal Title
  
  Clinical Genetics
  
  Volume: 印刷中 Issue: 6 Pages: 713-717
- DOI
  10.1111/cge.13530
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-16K10110, KAKENHI-PROJECT-17K10069, KAKENHI-PROJECT-17K19536
[Journal Article] Novel USP9X variants in two patients with X-linked intellectual disability2019
- Author(s)
  Tsurusaki Yoshinori、Kuroda Yukiko、Yamanouchi Yasuko、Kondo Eisuke、Ouchi Kazunobu、Kimura Yuichi、Enomoto Yumi、Aida Noriko、Masuno Mitsuo、Kurosawa Kenji
- Journal Title
  
  Human Genome Variation
  
  Volume: 6 Issue: 1 Pages: 49-49
- DOI
  10.1038/s41439-019-0081-7
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K10069, KAKENHI-PROJECT-17K19536
[Journal Article] A severe form of Ellis-van Creveld syndrome caused by novel mutations in EVC22019
- Author(s)
  Ohashi Ikuko、Enomoto Yumi、Naruto Takuya、Tsurusaki Yoshinori、Kuroda Yukiko、Ishikawa Hiroshi、Ohyama Makiko、Aida Noriko、Nishimura Gen、Kurosawa Kenji
- Journal Title
  
  Human Genome Variation
  
  Volume: 6 Issue: 1 Pages: 40-40
- DOI
  10.1038/s41439-019-0071-9
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K10069, KAKENHI-PROJECT-17K19536
[Journal Article] Whole‐exome sequencing reveals the subclonal expression of NUP214 ‐ ABL1 fusion gene in T‐cell acute lymphoblastic leukemia2019
- Author(s)
  Tsurusaki Yoshinori、Nagai Jun‐ichi、Fujita Sachio、Sugiyama Masanaka、Nakamura Wataru、Hayashi Akiko、Miyagawa Naoyuki、Keino Dai、Yokosuka Tomoko、Iwasaki Fuminori、Hamanoue Satoshi、Shiomi Masae、Goto Shoko、Kurosawa Kenji、Goto Hiroaki
- Journal Title
  
  Pediatric Blood & Cancer
  
  Volume: 67 Issue: 1
- DOI
  10.1002/pbc.28019
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K19536
[Journal Article] Hemoglobin beta Kanagawa [c.443A>C; p.(Ter148Serext*21)]: A novel β‐globin gene mutation causing dominantly inherited β‐thalassemia2019
- Author(s)
  Sugiyama Masanaka、Hamanoue Satoshi、Nagai Jun‐ichi、Tsurusaki Yoshinori、Kurosawa Kenji、Tanaka Mio、Tanaka Yukichi、Goto Hiroaki
- Journal Title
  
  Pediatric Blood & Cancer
  
  Volume: 66 Issue: 9
- DOI
  10.1002/pbc.27871
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K19536
[Journal Article] Two unrelated girls with intellectual disability associated with a truncating mutation in the PPM1D penultimate exon2019
- Author(s)
  Kuroda Yukiko、Murakami Hiroaki、Yokoi Takayuki、Kumaki Tatsuro、Enomoto Yumi、Tsurusaki Yoshinori、Kurosawa Kenji
- Journal Title
  
  Brain and Development
  
  Volume: 41 Issue: 6 Pages: 538-541
- DOI
  10.1016/j.braindev.2019.02.007
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10069, KAKENHI-PROJECT-17K19536
[Journal Article] A female patient with X‐linked Ohdo syndrome of the Maat‐Kievit‐Brunner phenotype caused by a novel variant of MED122019
- Author(s)
  Murakami Hiroaki、Enomoto Yumi、Tsurusaki Yoshinori、Sugio Yoshitsugu、Kurosawa Kenji
- Journal Title
  
  Congenital Anomalies
  
  Volume: - Issue: 3 Pages: 91-93
- DOI
  10.1111/cga.12350
- NAID
  210000156667
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10069, KAKENHI-PROJECT-17K19536
[Journal Article] Genetic abnormalities in a large cohort of Coffin?Siris syndrome patients2019
- Author(s)
  Sekiguchi Futoshi et al., Matsumoto Naomichi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 64 Issue: 12 Pages: 1173-1186
- DOI
  10.1038/s10038-019-0667-4
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17K19536
[Journal Article] Novel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly.2018
- Author(s)
  Sato Y, Shibasaki J, Aida N, Hiiragi K, Kimura Y, Akahira-Azuma M, Enomoto Y, Tsurusaki Y, Kurosawa K.
- Journal Title
  
  Human Genome Variation
  
  Volume: 5 Issue: 1 Pages: 4-4
- DOI
  10.1038/s41439-018-0005-y
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K10069, KAKENHI-PROJECT-17K19536
[Journal Article] Refining the clinical phenotype of Okur-Chung neurodevelopmental syndrome2018
- Author(s)
  Akahira-Azuma Moe、Tsurusaki Yoshinori、Enomoto Yumi、Mitsui Jun、Kurosawa Kenji
- Journal Title
  
  Human Genome Variation
  
  Volume: 5 Issue: 1 Pages: 18011-18011
- DOI
  10.1038/hgv.2018.11
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K19536, KAKENHI-PROJECT-16H06279
[Journal Article] Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome2018
- Author(s)
  Fujita Atsushi、Tsukaguchi Hiroyasu、Koshimizu Eriko、Nakazato Hitoshi、Itoh Kyoko、Kuraoka Shohei、Komohara Yoshihiro、Shiina Masaaki、Nakamura Shohei、Kitajima Mika、Tsurusaki Yoshinori、Miyatake Satoko、Ogata Kazuhiro、Iijima Kazumoto、Matsumoto Naomichi、Miyake Noriko
- Journal Title
  
  Annals of Neurology
  
  Volume: 84 Issue: 6 Pages: 814-828
- DOI
  10.1002/ana.25370
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K09719, KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17K19536, KAKENHI-PROJECT-18K19305, KAKENHI-PROJECT-18KK0244, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H03293, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-17H06994
[Journal Article] De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy2018
- Author(s)
  Nakashima Mitsuko、Kato Mitsuhiro、Aoto Kazushi、Shiina Masaaki、Belal Hazrat、Mukaida Souichi、Kumada Satoko、Sato Atsushi、Zerem Ayelet、Lerman-Sagie Tally、Lev Dorit、Leong Huey Yin、Tsurusaki Yoshinori、Mizuguchi Takeshi、Miyatake Satoko、Miyake Noriko、Ogata Kazuhiro、Saitsu Hirotomo、Matsumoto Naomichi
- Journal Title
  
  Annals of Neurology
  
  Volume: 83 Issue: 4 Pages: 794-806
- DOI
  10.1002/ana.25208
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K19536, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-17K08513, KAKENHI-PROJECT-18K19305, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H03293, KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-17K15630
[Journal Article] Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations2018
- Author(s)
  Doi H、Koyano S、Miyatake S、Nakajima S、Nakazawa Y、Kunii M、Tomita-Katsumoto A、Oda K、Yamaguchi Y、Fukai R、Ikeda S、Kato R、Ogata K、Kubota S、Hayashi N、Takahashi K、Tada M、Tanaka K、Nakashima M、Tsurusaki Y et al.
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 63 Issue: 4 Pages: 417-423
- DOI
  10.1038/s10038-017-0408-5
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K19536, KAKENHI-PROJECT-17K16128, KAKENHI-PROJECT-15H05333, KAKENHI-PROJECT-17H00783, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-15K09344, KAKENHI-PROJECT-16K15526, KAKENHI-PROJECT-18K07503, KAKENHI-PROJECT-18K07504, KAKENHI-PROJECT-18K11639, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-17H01877, KAKENHI-PROJECT-18H03372, KAKENHI-PROJECT-15H02654
[Journal Article] Nonsyndromic intellectual disability with novel heterozygous SCN2A mutation and epilepsy.2018
- Author(s)
  Yokoi T, Enomoto Y, Tsurusaki Y, Naruto T, Kurosawa K.
- Journal Title
  
  Hum Genome Var.
  
  Volume: 5 Issue: 1 Pages: 20-20
- DOI
  10.1038/s41439-018-0019-5
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K19536
[Journal Article] A novel SYNGAP1 variant in a patient with intellectual disability and distinctive dysmorphisms.2018
- Author(s)
  Kimura Y, Akahira-Azuma N, Harada N, Enomoto Y, Tsurusaki Y, Kurosawa K.
- Journal Title
  
  Congenit Anom (Kyoto)
  
  Volume: 印刷中 Issue: 6 Pages: 188-190
- DOI
  10.1111/cga.12273
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10069, KAKENHI-PROJECT-17K19536
[Journal Article] Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder2018
- Author(s)
  Takata A, Miyake N, Tsurusaki Y, Fukai R, Miyatake S, Koshimizu E, Kushima I, Okada T, ...Matsumoto N.
- Journal Title
  
  Cell Reports
  
  Volume: 22(3) Issue: 3 Pages: 734-747
- DOI
  10.1016/j.celrep.2017.12.074
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-16K10248, KAKENHI-PROJECT-17K19536, KAKENHI-PROJECT-16H01880, KAKENHI-PROJECT-15H04889, KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-16H05375, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17H06747, KAKENHI-PROJECT-16K19626, KAKENHI-PROJECT-18K07893, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-17K15630
[Journal Article] Biallelic mutations of EGFR in a compound heterozygous state cause ectodermal dysplasia with severe skin defects and gastrointestinal dysfunction.2018
- Author(s)
  Hayashi S, Yokoi T, Hatano C, Enomoto Y, Tsurusaki Y, Naruto T, Kobayashi M, Ida H, Kurosawa K.
- Journal Title
  
  Hum Genome Var.
  
  Volume: 5 Issue: 1 Pages: 11-11
- DOI
  10.1038/s41439-018-0011-0
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K19536
[Journal Article] A novel UBE2A mutation causes X-linked intellectual disability type Nascimento.2017
- Author(s)
  Tsurusaki Y, Ohashi I, Enomoto Y, Naruto T, Mitsui J, Kurosawa K, Aida N
- Journal Title
  
  Human Genome Variation
  
  Volume: 印刷中
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-26461538
[Journal Article] Mandibulofacial dysostosis with microcephaly: A case presenting with seizures2017
- Author(s)
  Matsuo M, Yamauchi A, Ito Y, Sakauchi M, Yamamoto T, Okamoto N, Tsurusaki Y, Miyake N, Matsumoto N, Saito K.
- Journal Title
  
  Brain Dev.
  
  Volume: 39(2) Issue: 2 Pages: 177-181
- DOI
  10.1016/j.braindev.2016.08.008
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-15K19660, KAKENHI-PROJECT-15K09631
[Journal Article] Biallelic mutations in MYPN, encoding Myopalladin, are associated with childhood-onset, slowly progressive nemaline myopathy2017
- Author(s)
  Miyatake S, Mitsuhashi S, Hayashi YK, Purevjav E, Nishikawa A, Koshimizu E, Suzuki M, Yatabe K, Tanaka Y, Ogata K, Kuru S, Shiina M, Tsurusaki Y, Nakashima M, Mizuguchi T, Miyake N, Saitsu H, Ogata K, Kawai M, Towbin J, Nonaka I, Nishino I, Matsumoto N
- Journal Title
  
  American Journal of Human Genetics
  
  Volume: 100 Issue: 1 Pages: 169-178
- DOI
  10.1016/j.ajhg.2016.11.017
- Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-26330331, KAKENHI-PROJECT-26461549, KAKENHI-PROJECT-15K19660, KAKENHI-PROJECT-17K15630, KAKENHI-PROJECT-16H03293
[Journal Article] A novel UBE2A mutation causes X-linked intellectual disability type Nascimento2017
- Author(s)
  Tsurusaki Yoshinori、Ohashi Ikuko、Enomoto Yumi、Naruto Takuya、Mitsui Jun、Aida Noriko、Kurosawa Kenji
- Journal Title
  
  Human Genome Variation
  
  Volume: 4 Issue: 1 Pages: 17019-17019
- DOI
  10.1038/hgv.2017.19
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K19536, KAKENHI-PROJECT-16H06279
[Journal Article] Coffin-Siris syndrome and cardiac anomaly with a novel SOX11 mutation2017
- Author(s)
  Okamoto Nobuhiko、Ehara Eiji、Tsurusaki Yoshinori、Miyake Noriko、Matsumoto Naomichi
- Journal Title
  
  Congenital Anomalies
  
  Volume: 58 Issue: 3 Pages: 105-107
- DOI
  10.1111/cga.12242
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K19536, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-17H01539
[Journal Article] A novel AMER1 frameshift mutation in a girl with osteopathia striata with cranial sclerosis.2017
- Author(s)
  Enomoto Y, Tsurusaki Y, Harada N, Aida N, Kurosawa K.
- Journal Title
  
  Congenit Anom (Kyoto).
  
  Volume: 印刷中 Issue: 4 Pages: 145-146
- DOI
  10.1111/cga.12258
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K10069, KAKENHI-PROJECT-17K19536
[Journal Article] ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome.2017
- Author(s)
  Miyatake S, Okamoto N, Stark Z, Nabetani M, Tsurusaki Y, Nakashima M, Miyake N, Mizuguchi T, Ohtake A, Saitsu H, Matsumoto N.
- Journal Title
  
  J Hum Genet.
  
  Volume: 印刷中 Issue: 8 Pages: 741-746
- DOI
  10.1038/jhg.2017.24
- Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26461549, KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17K19536, KAKENHI-PROJECT-17K15630, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05357
[Journal Article] De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures.2016
- Author(s)
  Fukai R, Saitsu H, Tsurusaki Y, Sakai Y, Haginoya K, Takahashi K, Hubshman MW, Okamoto N, Nakashima M, Tanaka F, Miyake N, Matsumoto N
- Journal Title
  
  J Hum Genet
  
  Volume: 61 Issue: 5 Pages: 381-387
- DOI
  10.1038/jhg.2016.1
- Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-15K19660
[Journal Article] Molecular genetic analysis of 30 families with Joubert syndrome2016
- Author(s)
  Suzuki T, et al., Matsumoto N
- Journal Title
  
  Clin Genet
  
  Volume: 90 Issue: 6 Pages: 526-535
- DOI
  10.1111/cge.12836
- Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-15K19660, KAKENHI-PROJECT-16K04802
[Journal Article] Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome2016
- Author(s)
  Miyake N, Abdel-Salam G, Yamagata T, Eid MM, Osaka H, Okamoto N, Mohamed AM, Ikeda T, Afifi HH, Piard J, van Maldergem L, Mizuguchi T, Miyatake S, Tsurusaki Y, Matsumoto N
- Journal Title
  
  Am J Med Genet A
  
  Volume: 170 Issue: 10 Pages: 2662-2670
- DOI
  10.1002/ajmg.a.37778
- Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-26461549, KAKENHI-PROJECT-15K19660
[Journal Article] White matter abnormalities in an adult patient with l-2-hydroxyglutaric aciduria.2016
- Author(s)
  Yamamoto T, Yoshioka S, Tsurusaki Y, Shino S, Shimojima K, Shigematsu Y, Takeuchi Y, Matsumoto N.
- Journal Title
  
  Brain Dev.
  
  Volume: 38(1) Issue: 1 Pages: 142-144
- DOI
  10.1016/j.braindev.2015.04.012
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-15K19660, KAKENHI-PROJECT-24791090
[Journal Article] The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations2016
- Author(s)
  Hamatani M, Jingami N, Tsurusaki Y, Shimada S, Shimojima K, Asada-Utsugi M, Yoshinaga K, Uemura N, Yamashita H, Uemura K, Takahashi R, Matsumoto N, Yamamoto T
- Journal Title
  
  J Hum Genet
  
  Volume: 61 Issue: 10 Pages: 899-902
- DOI
  10.1038/jhg.2016.64
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-15K19660, KAKENHI-PROJECT-24791090
[Journal Article] Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay2016
- Author(s)
  Saitsu H, Fukai R, Ben-Zeev B, Sakai Y, Mimaki M, Okamoto N, Suzuki Y, Monden Y, Saito H, Tziperman B, Torio M, Akamine S, Takahashi N, Osaka H, Yamagata T, Nakamura K, Tsurusaki Y, Nakashima M, Miyake N, Shiina M, Ogata K, Matsumoto N
- Journal Title
  
  Eur J Hum Genet
  
  Volume: 24(1) Issue: 1 Pages: 129-134
- DOI
  10.1038/ejhg.2015.92
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26330331, KAKENHI-PROJECT-15K19660, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PROJECT-25461539, KAKENHI-PROJECT-26860781, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235
[Journal Article] Different X-linked KDM5C Mutations in Affected Male Siblings: Is Maternal Reversion Error Involved?2016
- Author(s)
  Fujita A, Waga C, Hachiya Y, Kurihara E, Kumada S, Takeshita E, Nakagawa E, Inoue K, Miyatake S, Tsurusaki Y, Nakashima M, Saitsu H, Goto YI, Miyake N, Matsumoto N.
- Journal Title
  
  Clin Genet.
  
  Volume: 90(3) Issue: 3 Pages: 276-281
- DOI
  10.1111/cge.12767
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-15K19660
[Journal Article] De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux2016
- Author(s)
  Fujita A, Isidor B, Piloquet H, Corre P, Okamoto N, Nakashima M, Tsurusaki Y, Saitsu H, Miyake N, Matsumoto N
- Journal Title
  
  J Hum Genet
  
  Volume: 61 Issue: 9 Pages: 835-838
- DOI
  10.1038/jhg.2016.54
- Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-15K19660
[Journal Article] SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases2016
- Author(s)
  Zarate YA, Bhoj E, Kaylor J, Li D, Tsurusaki Y, Miyake N, Matsumoto N, Phadke S, Escobar L, Irani A, Hakonarson H, Schrier Vergano SA
- Journal Title
  
  Am J Med Genet A
  
  Volume: 170 Issue: 8 Pages: 1967-1973
- DOI
  10.1002/ajmg.a.37722
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-15K19660
[Journal Article] Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome.2016
- Author(s)
  Hempel A, Pagnamenta AT, Blyth M, Mansour S, McConnell V, Kou I, Ikegawa S, Tsurusaki Y, Matsumoto N, Lo-Castro A, Plessis G, Albrecht B, Battaglia A, Taylor JC, Howard MF, Keays D, Sohal AS; DDD collaboration, Kühl SJ, Kini U, McNeill A.
- Journal Title
  
  J Med Genet.
  
  Volume: 53(3) Issue: 3 Pages: 152-162
- DOI
  10.1136/jmedgenet-2015-103393
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K19660
[Journal Article] Dual genetic diagnoses: Atypical hand-foot-genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1.2016
- Author(s)
  Wallis M, Tsurusaki Y, Burgess T, Borzi P, Matsumoto N, Miyake N, True D, Patel C.
- Journal Title
  
  Am J Med Genet A.
  
  Volume: 170(3) Issue: 3 Pages: 717-724
- DOI
  10.1002/ajmg.a.37478
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K19660, KAKENHI-PROJECT-25293235
[Journal Article] Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma.2016
- Author(s)
  Saitsu H, Sonoda M, Higashijima T, Shirozu H, Masuda H, Tohyama J, Kato M, Nakashima M, Tsurusaki Y, Mizuguchi T, Miyatake S, Miyake N, Kameyama S, Matsumoto N.
- Journal Title
  
  Ann Clin Transl Neurol.
  
  Volume: 24 Issue: 5 Pages: 356-65
- DOI
  10.1002/acn3.300
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-26461549, KAKENHI-PROJECT-15K19660
[Journal Article] Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome.2016
- Author(s)
  Imagawa E, Fattal-Valevski A, Eyal O, Miyatake S, Saada A, Nakashima M, Tsurusaki Y, Saitsu H, Miyake N, Matsumoto N.
- Journal Title
  
  J Neurol Neurosurg Psychiatry.
  
  Volume: 87(2) Pages: 212-216
- DOI
  10.1136/jnnp-2014-310084
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K19660, KAKENHI-PROJECT-25293235, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007
[Journal Article] Detection of low-prevalence somatic TSC2 mutations in sporadic pulmonary lymphangioleiomyomatosis tissues by deep sequencing.2016
- Author(s)
  Fujita A, Ando K, Kobayashi E, Mitani K, Okudera K, Nakashima M, Miyatake S, Tsurusaki Y, Saitsu H, Seyama K, Miyake N, Matsumoto N.
- Journal Title
  
  Hum Genet.
  
  Volume: 135(1) Issue: 1 Pages: 61-68
- DOI
  10.1007/s00439-015-1611-0
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K19660, KAKENHI-ORGANIZER-24118001, KAKENHI-PROJECT-25293235, KAKENHI-PLANNED-24118007
[Journal Article] Human genetic variation database, a reference database of genetic variations in the Japanese population.2016
- Author(s)
  Higasa K, Miyake N, Yoshimura J, Okamura K, Niihori T, Saitsu H, Doi K, Shimizu M, Nakabayashi K, Aoki Y, Tsurusaki Y, Morishita S, Kawaguchi T, Migita O, (中略), Matsumoto N, Matsuda F.
- Journal Title
  
  J Hum Genet.
  
  Volume: advance online publication Issue: 6 Pages: 547-553
- DOI
  10.1038/jhg.2016.12
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-25860258, KAKENHI-PROJECT-26830064, KAKENHI-PROJECT-26293059, KAKENHI-PROJECT-26461520, KAKENHI-PROJECT-15K19660, KAKENHI-PROJECT-16K07137, KAKENHI-PROJECT-15KK0293
[Journal Article] Detecting copy number variations in whole exome sequencing data using exome hidden markov model - an expectation of “exome-first” approach.2015
- Author(s)
  Miyatake S, Koshimizu E, Fujita A, Fukai R, Imagawa E, Ohba C, Kuki I, Makita Y, Ogata T, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N
- Journal Title
  
  J Hum Genet
  
  Volume: 1 Issue: 4 Pages: 124-124
- DOI
  10.1038/jhg.2014.124
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-26461549, KAKENHI-PROJECT-15K19660, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-25293235
[Journal Article] De novo GABRA1 mutations in Ohtahara and West syndromes2015
- Author(s)
  ○Hirofumi Kodera, et al, Hirotomo Saitsu and Naomichi Matsumoto
- Journal Title
  
  Epilepsia
  
  Volume: 57 Issue: 4 Pages: 566-573
- DOI
  10.1111/epi.13344
- Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26860816, KAKENHI-PROJECT-25293235, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-15K19660
[Journal Article] Mutations in the genes encoding eukaryotic translation initiation factor 2B in Japanese patients with vanishing white matter disease.2015
- Author(s)
  Shimada S, Shimojima K, Sangu N, Hoshino A, Hachiya Y, Ohto T, Hashi Y, Nishida K, Mitani M, Kinjo S, Tsurusaki Y, Matsumoto N, Morimoto M, Yamamoto T.
- Journal Title
  
  Brain Dev.
  
  Volume: 37(10) Issue: 10 Pages: 960-966
- DOI
  10.1016/j.braindev.2015.03.003
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-15K19660, KAKENHI-PROJECT-24791090
[Journal Article] GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders2015
- Author(s)
  Ohba C, Shiina M, Tohyama J, Haginoya K, Lerman-Sagie T, Okamoto N, Blumkin L, Lev D, Mukaida S, Nozaki F, Uematsu M, Onuma A, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Tanaka F, Kato M, Ogata K, Saitsu H, Matsumoto N
- Journal Title
  
  Epilepsia
  
  Volume: 印刷中 Issue: 6 Pages: 841-848
- DOI
  10.1111/epi.12987
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PROJECT-26330331, KAKENHI-PROJECT-15K19660, KAKENHI-PLANNED-24118005, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-26860816, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235
[Journal Article] Biallelic mutations in nuclear pore complex subunit NUP107 cause early-childhood-onset steroid-resistant nephrotic syndrome2015
- Author(s)
  Miyake N, Tsukaguchi H, Koshimizu E, Shono A, Matsunaga S, Shiina M, Mimura Y, Imamura S, Hirose T, Okudela K, Nozu K, Akioka Y, Hattori M, Yoshikawa N, Kitamura A, Cheong HI, Kagami S, Yamashita M, Fujita A, Miyatake S, Tsurusaki Y, Nakashima M, Saitsu H, Ohashi K, Imamoto N, Ryo A, Ogata K, Iijima K, Matsumoto N
- Journal Title
  
  Am J Hum Genet
  
  Volume: 97(4) Issue: 4 Pages: 555-566
- DOI
  10.1016/j.ajhg.2015.08.013
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26330331, KAKENHI-PROJECT-26461246, KAKENHI-PROJECT-26461549, KAKENHI-PROJECT-15K19660, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-26293203
[Journal Article] Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation2015
- Author(s)
  17.Kodera H, Ando N, Yuasa I, Wada Y, Tsurusaki Y, Nakashima M, Miyake N, Saitoh S, Matsumoto N, Saitsu H
- Journal Title
  
  Clin Genet
  
  Volume: 87 Issue: 5 Pages: 455-460
- DOI
  10.1111/cge.12417
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23390081, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915, KAKENHI-PROJECT-26460878, KAKENHI-PROJECT-26860816
[Journal Article] Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy.2015
- Author(s)
  Kodera H, Osaka H, Iai M, Aida N, Yamashita A, Tsurusaki Y, Nakashima M, Miyake N, Saitsu H, Matsumoto N.
- Journal Title
  
  J Hum Genet.
  
  Volume: 60(2) Issue: 2 Pages: 97-101
- DOI
  10.1038/jhg.2014.103
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PLANNED-21115004, KAKENHI-PROJECT-23591264, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915, KAKENHI-PROJECT-26860816, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007
[Journal Article] Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations.2015
- Author(s)
  Miyake N, Tsurusaki Y, Koshimizu E, Okamoto N, Kosho T, Brown NJ, Tan TY, Yap PJ, Suzumura H, Tanaka T, Nagai T, Nakashima M, Saitsu H, Niikawa N, Matsumoto N.
- Journal Title
  
  Clin Genet.
  
  Volume: 89(1) Issue: 1 Pages: 115-119
- DOI
  10.1111/cge.12586
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K19660, KAKENHI-PROJECT-25293235
[Journal Article] A case of autism spectrum disorder arising from a de novo missense mutation in POGZ.2015
- Author(s)
  Fukai R, Hiraki Y, Yofune H, Tsurusaki Y, Nakashima M, Saitsu H, Tanaka F, Miyake N, Matsumoto N.
- Journal Title
  
  J Hum Genet.
  
  Volume: 60(5) Issue: 5 Pages: 277-279
- DOI
  10.1038/jhg.2015.13
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-15K19660, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-25293235
[Journal Article] De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing.2015
- Author(s)
  Saitsu, H., T. Akita, J. Tohyama, H. Goldberg-Stern, Y. Kobayashi, R. Cohen, M. Kato, C. Ohba, S. Miyatake, Y. Tsurusaki, M. Nakashima, N. Miyake, A. Fukuda, and N. Matsumoto
- Journal Title
  
  Sci Rep
  
  Volume: 5 Issue: 1 Pages: 15199-15199
- DOI
  10.1038/srep15199
- Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26461549, KAKENHI-PROJECT-26670512, KAKENHI-PROJECT-15K19660, KAKENHI-PLANNED-15H05872, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-25293052, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235, KAKENHI-ORGANIZER-15H05871
[Journal Article] Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome.2015
- Author(s)
  Imagawa E, Fukai R, Behnam M, Goyal M, Nouri N, Nakashima M, Tsurusaki Y, Saitsu H, Salehi M, Kapoor S, Tanaka F, Miyake N, Matsumoto N.
- Journal Title
  
  Hum Genome Var.
  
  Volume: 2 Issue: 1 Pages: 15034-15034
- DOI
  10.1038/hgv.2015.34
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K19660, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-25293235
[Journal Article] De novo KCNT1 mutations in early-onset epileptic encephalopathy.2015
- Author(s)
  Ohba C, Kato M, Takahashi N, Osaka H, Shiihara T, Tohyama J, Nabatame S, Azuma J, Fujii Y, Hara M, Tsurusawa R, Inoue T, Ogata R, Watanabe Y, Togashi N, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Tanaka F, Saitsu H, Matsumoto N.
- Journal Title
  
  Epilepsia
  
  Volume: 56(9) Issue: 9
- DOI
  10.1111/epi.13072
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-15K19660, KAKENHI-PROJECT-26860816, KAKENHI-PROJECT-26860832, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235
[Journal Article] De novo DNM1 mutations in two cases of epileptic encephalopathy.2015
- Author(s)
  Nakashima M, Kouga T, Lourenço CM, Shiina M, Goto T, Tsurusaki Y, Miyatake S, Miyake N, Saitsu H, Ogata K, Osaka H, Matsumoto N.
- Journal Title
  
  Epilepsia
  
  Volume: Epub 2015 Nov 27. Issue: 1
- DOI
  10.1111/epi.13257
- Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K10367, KAKENHI-PROJECT-26330331, KAKENHI-PROJECT-15K19660, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235
[Journal Article] De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance.2015
- Author(s)
  Ohba, C., K. Haginoya, H. Osaka, K. Kubota, A. Ishiyama, T. Hiraide, H. Komaki, M. Sasaki, S. Miyatake, M. Nakashima, Y. Tsurusaki, N. Miyake, F. Tanaka, H. Saitsu, and N. Matsumoto
- Journal Title
  
  J Hum Genet
  
  Volume: 60 Issue: 12 Pages: 739-42
- DOI
  10.1038/jhg.2015.108
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-26461549, KAKENHI-PROJECT-15K19660, KAKENHI-PROJECT-25860854, KAKENHI-PROJECT-25293235
[Journal Article] Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb2015
- Author(s)
  Nakashima M, Saitsu H, Takei N, Tohyama J, Kato M, Kitaura H, Shiina M, Shirozu H, Masuda H, Watanabe K, Ohba C, Tsurusaki Y, Miyake N, Zheng Y, Sato T, Takebayashi H, Ogata K, Kameyama S, Kakita A, Matsumoto N
- Journal Title
  
  Ann. Neurol.
  
  Volume: 78 Issue: 3 Pages: 375-386
- DOI
  10.1002/ana.24444
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K06736, KAKENHI-PROJECT-15K06751, KAKENHI-PROJECT-15K10367, KAKENHI-PROJECT-26330331, KAKENHI-PROJECT-15K19660, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-25250008, KAKENHI-PROJECT-25430064, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235
[Journal Article] Whole-exome sequencing and neurite outgrowth analysis in autism spectrum disorder.2015
- Author(s)
  Hashimoto R, Nakazawa T, Tsurusaki Y, Yasuda Y, Nagayasu K, Matsumura K, Kawashima H, Yamamori H, Fujimoto M, Ohi K, Umeda-Yano S, Fukunaga M, Fujino H, Kasai A, Hayata-Takano A, Shintani N, Takeda M, Matsumoto N, Hashimoto H.
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 61 Issue: 3 Pages: 199-206
- DOI
  10.1038/jhg.2015.141
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-15K09865, KAKENHI-PROJECT-15K14963, KAKENHI-PROJECT-26670122, KAKENHI-PROJECT-15K19660, KAKENHI-PROJECT-15K19725, KAKENHI-PUBLICLY-15H01286, KAKENHI-PUBLICLY-15H01288, KAKENHI-PROJECT-221S0003, KAKENHI-PROJECT-15H04645, KAKENHI-PROJECT-25460100, KAKENHI-PROJECT-26670541, KAKENHI-PROJECT-26860055, KAKENHI-PROJECT-25293250, KAKENHI-PROJECT-26293020, KAKENHI-PROJECT-16H05379, KAKENHI-PROJECT-16K08269
[Journal Article] Japanese familial case of myoclonus-dystonia syndrome with a splicing mutation in SGCE.2015
- Author(s)
  Wada T, Takano K, Tsurusaki Y, Miyake N, Nakashima M, Saitsu H, Matsumoto N, Osaka H.
- Journal Title
  
  Pediatr Int.
  
  Volume: 57 Issue: 2 Pages: 324-326
- DOI
  10.1111/ped.12613
- NAID
  120005666180
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-26461522, KAKENHI-PROJECT-15K19660, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-25293235
[Journal Article] Familial schwannomatosis with a germline mutation of SMARCB1 in Japan.2015
- Author(s)
  Asai K, Tani S, Mineharu Y, Tsurusaki Y, Imai Y, Agawa Y, Iwaki K, Matsumoto N, Sakai N.
- Journal Title
  
  Brain Tumor Pathol.
  
  Volume: 32(3) Issue: 3 Pages: 216-220
- DOI
  10.1007/s10014-015-0213-9
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-15K19660, KAKENHI-PROJECT-15K19963
[Journal Article] DNA methylation and gene expression dynamics during spermatogonial stem cell differentiation in the early postnatal mouse testis.2015
- Author(s)
  Kubo N, Toh H, Shirane K, Shirakawa T, Kobayashi H, Sato T, Sone H, Sato Y, Tomizawa S, Tsurusaki Y, Shibata H, Saitsu H, Suzuki Y, Matsumoto N, Suyama M, Kono T, Ohbo K, Sasaki H.
- Journal Title
  
  BMC Genomics.
  
  Volume: 16 Issue: 1 Pages: 624-624
- DOI
  10.1186/s12864-015-1833-5
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K19660, KAKENHI-PROJECT-26860137, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-ORGANIZER-25112001, KAKENHI-PLANNED-25112010, KAKENHI-PROJECT-15H05579, KAKENHI-PROJECT-14J04310, KAKENHI-PLANNED-25114004
[Journal Article] Novel compound heterozygous LIAS mutations cause glycine encephalopathy2015
- Author(s)
  Tsurusaki Y, Tanaka R, Shimada S, Shimojima K, Shiina M, Nakashima M, Saitsu H, Miyake N, Ogata K, Yamamoto T, Matsumoto N
- Journal Title
  
  J Hum Genet
  
  Volume: 60(10) Issue: 10 Pages: 631-635
- DOI
  10.1038/jhg.2015.72
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-26330331, KAKENHI-PROJECT-15K19660, KAKENHI-PROJECT-24791090, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PROJECT-25293235
[Journal Article] PIGA mutations cause early-onset epileptic encephalopathies and distinctive features2014
- Author(s)
  Kato M, Saitsu H, Murakami Y , Kikuchi K, Watanabe S, Iai M, Miya K, Matsuura R, Takayama R, Ohba C, Nakashima M, Tsurusaki Y, Miyake N, Hamano S, Osaka H, Hayasaka K, Kinoshita T, Matsumoto N.
- Journal Title
  
  Neurology
  
  Volume: 82（18） Issue: 18 Pages: 1587-1596
- DOI
  10.1212/wnl.0000000000000389
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PUBLICLY-25129705, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] Early onset epileptic encephalopathy caused by de novo SCN8A mutations2014
- Author(s)
  Ohba C, Kato M, Takahashi S, Lerman-Sagie T, Lev D, Terashima H, Kubota M, Kawawaki H, Matsufuji M, Kojima Y, Tateno A, Goldberg-Stern H, Straussberg R, Marom D, Leshinsky-Silver E, Nakashima M, Nishiyama K, Tsurusaki Y, Miyake N, Tanaka F, Matsumoto N, Saitsu H:
- Journal Title
  
  Epilepsia
  
  Volume: 55 Issue: 7 Pages: 994-1000
- DOI
  10.1111/epi.12668
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22129005, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24591500, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation.2014
- Author(s)
  Saitsu H, Tohyama J, Walsh T, Kato M, Kobayashi Y, Lee M, Tsurusaki Y, Miyake N, Goto Y, Nishino I, Ohtake A, King MC, Matsumoto N.
- Journal Title
  
  J Hum Genet
  
  Volume: 59 Issue: 10 Pages: 581-3
- DOI
  10.1038/jhg.2014.71
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot.2014
- Author(s)
  Nakamura K, Jinnou H, Yokochi K, Okanishi T, Enoki H, Ohki S, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake M, Matsumoto N, Saitsu H*.
- Journal Title
  
  Brain Dev
  
  Volume: 36 Issue: 3 Pages: 272-273
- DOI
  10.1016/j.braindev.2013.03.007
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-25860915
[Journal Article] A novel WTX mutation in a female patient with osteopathia striata with cranial sclerosis and hepatoblastoma.2014
- Author(s)
  Fujita A, Ochi N, Fujimaki H, Muramatsu H, Takahashi Y, Natsume J, Kojima S, Nakashima M, Tsurusaki Y, Saitsu H, Matsumoto N, Miyake N.
- Journal Title
  
  Am J Med Genet A.
  
  Volume: 164A Issue: 4 Pages: 998-1002
- DOI
  10.1002/ajmg.a.36369
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] Precise detection of chromosomal translocation or inversion breakpoints by whole-genome sequencing.2014
- Author(s)
  Suzuki T, Tsurusaki Y, Nakashima M, Miyake N, Saitsu H, Takeda S, Matsumoto N.
- Journal Title
  
  J Hum Genet.
  
  Volume: 59 Issue: 12 Pages: 649-54
- DOI
  10.1038/jhg.2014.88
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly.2014
- Author(s)
  Saitsu H, Yamashita S, Tanaka Y, Tsurusaki Y, Nakashima M, Miyake N, Matsumoto N.
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 59 Issue: 12 Pages: 687-690
- DOI
  10.1038/jhg.2014.91
- NAID
  40020308684
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] Expanding the phenotypic spectrum of TUBB4A-associated2014
- Author(s)
  Miyatake S, Osaka H, Shiina M, Sasaki M, Takanashi J, Haginoya K, Wada T,
- Journal Title
  
  Neurology
  
  Volume: 82(24) Issue: 24 Pages: 2230-7
- DOI
  10.1212/wnl.0000000000000535
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-23591264, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24591790, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915, KAKENHI-PROJECT-26330331, KAKENHI-PROJECT-26461549
[Journal Article] A hemizygous GYG2 mutation and Leigh syndrome: a possible link?2014
- Author(s)
  Imagawa E, Osaka H, Yamashita A, Shiina M, Takahashi E, Sugie H, Nakashima M, Tsurusaki Y, Saitsu H, Ogata K, Matsumoto N, Miyake N.
- Journal Title
  
  Hum Genet.
  
  Volume: 133(2 Issue: 2 Pages: 225-34
- DOI
  10.1007/s00439-013-1372-6
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PLANNED-21115004, KAKENHI-PROJECT-23687025, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25461652, KAKENHI-PROJECT-25860915, KAKENHI-PROJECT-26330331
[Journal Article] ‘Cortical cerebellar atrophy’ dwindles away in the era of next-generation sequencing.2014
- Author(s)
  Yoshida K, Miyatake S, Kinoshita T, Doi H, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N.
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 59 Issue: 10 Pages: 589-590
- DOI
  10.1038/jhg.2014.75
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-24591255, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915, KAKENHI-PROJECT-26461549
[Journal Article] De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain2014
- Author(s)
  Ohba C, Nabatame S, Iijima Y, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Tanaka F, Ozono K, Saitsu H, Matsumoto N.
- Journal Title
  
  J Hum Genet
  
  Volume: 59（5） Issue: 5 Pages: 292-295
- DOI
  10.1038/jhg.2014.18
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge-Weber syndrome.2014
- Author(s)
  Nakashima M, Miyajima M, Sugano H, Iimura Y, Kato M, Tsurusaki Y, Miyake N, Saitus H, Arai H, Matsumoto N.
- Journal Title
  
  J Hum Genet.
  
  Volume: 59 Issue: 12 Pages: 691-3
- DOI
  10.1038/jhg.2014.95
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24592173, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860874, KAKENHI-PROJECT-25860915, KAKENHI-PROJECT-26462217
[Journal Article] De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability and, autistic behaviors and epilepsy2014
- Author(s)
  Nakajima J, Okamoto N, Tohyama J, Kato M, Arai H, Funahashi O, Tsurusakia Y, Nakashima M, Kawashima H, Saitsu H, Matsumoto N, Miyake N.
- Journal Title
  
  Clin Genet
  
  Volume: 87(4) Issue: 4 Pages: 356-361
- DOI
  10.1111/cge.12394
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25860915
[Journal Article] Deep sequencing detects very low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathy2014
- Author(s)
  Miyatake S, Koshimizu E, Hayashi YK, Miya K, Shiina M, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Ogata K, Nishino I, Matsumoto N.
- Journal Title
  
  Neuromuscul Disord
  
  Volume: 24（7） Issue: 7 Pages: 642-647
- DOI
  10.1016/j.nmd.2014.04.002
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915, KAKENHI-PROJECT-26461549
[Journal Article] De novo SOX11 mutations cause Coffin-Siris syndrome2014
- Author(s)
  Tsurusaki Y, Ohashi H, Phadke S, Koshimizu E, Kou I, Shiina M, Suzuki T, Okamoto N, Imamura S, Yamashita M, Watanabe S, Yoshiura K-i, Kodera H, Miyatake S, Nakashima N, Saitsu H, Ogata K, Ikegawa S, Miyake N, and Matsumoto N.
- Journal Title
  
  Nat Commun
  
  Volume: 5 Issue: 1 Pages: 4011-4011
- DOI
  10.1038/ncomms5011
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24390199, KAKENHI-PROJECT-25293084, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25550033, KAKENHI-PROJECT-25860915, KAKENHI-PROJECT-26330331, KAKENHI-PROJECT-26461549, KAKENHI-PROJECT-26860816
[Journal Article] PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels.2014
- Author(s)
  Nakamura, K.Osaka, H.Murakami, Y.Anzai, R.Nishiyama, K.Kodera, H.Nakashima, M.Tsurusaki, Y.Miyake, N.Kinoshita, T.Matsumoto, N. and Saitsu, H
- Journal Title
  
  Epilepsia
  
  Volume: 55 Issue: 2 Pages: 13-17
- DOI
  10.1111/epi.12508
- Peer Reviewed
- Data Source
  KAKENHI-PUBLICLY-25129705, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915, KAKENHI-PROJECT-26860816
[Journal Article] A de novo 1.4-Mb deletion at 21q22.11 in a boy with developmentaldelay.2014
- Author(s)
  Fukai R, Hiraki Y, Nishimura G, Nakashima M, Tsurusaki Y, Saitsu H, Matsumoto N, Miyake N.
- Journal Title
  
  Am J Med Genet A.
  
  Volume: 164A Issue: 4 Pages: 1021-8
- DOI
  10.1002/ajmg.a.36377
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy2014
- Author(s)
  Ohba C, Okamoto N, Murakami Y, Kawato K, Suzuki Y, Ikeda T, Tsurusaki Y, Nakashima M, Miyake N, Tanaka F, Kinoshita T, Matsumoto N, Saitsu H .
- Journal Title
  
  Neurogenet
  
  Volume: 15（2） Issue: 2 Pages: 85-92
- DOI
  10.1007/s10048-013-0384-7
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PUBLICLY-25129705, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] A novel homozygous YARS2 mutation causessevere myopathy, lactic acidosis, and sideroblastic anemia 2.2014
- Author(s)
  Nakajima J, Eminoglu TF, Vatansever G, Nakashima M, Tsurusaki Y, Saitsu H,Kawashima H, Matsumoto N, Miyake N.
- Journal Title
  
  J Hum Genet.
  
  Volume: 59 Issue: 4 Pages: 229-32
- DOI
  10.1038/jhg.2013.143
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss2014
- Author(s)
  Nakashima M, Takano K, Osaka H, Aida N, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N.
- Journal Title
  
  J Hum Genet
  
  Volume: 59（8） Issue: 8 Pages: 471-474
- DOI
  10.1038/jhg.2014.51
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860874, KAKENHI-PROJECT-25860915
[Journal Article] Numerous BAF complex genes are mutated in Coffin-Siris syndrome2014
- Author(s)
  Miyake N, Tsurusaki Y, Matsumoto N.
- Journal Title
  
  Am J Med Genet Part C
  
  Volume: 166c（3） Issue: 3 Pages: 257-261
- DOI
  10.1002/ajmg.c.31406
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa2014
- Author(s)
  Katagiri S, Akahori M, Sergeev Y, Yoshitake K, Ikeo K, Furuno M, Hayashi T, Kondo M, Ueno S, Tsunoda K, Shinoda K, Kuniyoshi K, Tsurusaki Y, Matsumoto N, Tsuneoka H, Iwata T.
- Journal Title
  
  Plos One
  
  Volume: 9（9） Issue: 9 Pages: e108721-e108721
- DOI
  10.1371/journal.pone.0108721
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-25462744, KAKENHI-PROJECT-25860915, KAKENHI-PROJECT-26293377, KAKENHI-PROJECT-26462674, KAKENHI-PROJECT-26670762
[Journal Article] Aortic aneurysm and craniosynostosis in a family with Cantu syndrome.2014
- Author(s)
  Hiraki Y, Miyatake S, Hayashidani M, Nishimura Y, Matsuura H, Kamada M, Kawagoe T, Yunoki K, Okamoto N, Yofune H, Nakashima M, Tsurusaki Y, Satisu H, Murakami A, Miyake N, Nishimura G, *Matsumoto N.
- Journal Title
  
  Am J Med Genet Part A
  
  Volume: 164 Issue: 1 Pages: 231-236
- DOI
  10.1002/ajmg.a.36228
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] Atypical giant axonal neuropathy arising from a homozygous mutation by uniparental isodisomy2014
- Author(s)
  Miyatake S, Koshimizu E, Tada H, Satoshi Moriya S, Takanashi J, Hirano Y, Hayashi M, Nakashima M, Tsurusaki Y, Miyake N, Matsumoto N, Saitsu H.
- Journal Title
  
  Clin Genet
  
  Volume: 87（4） Issue: 4 Pages: 395-397
- DOI
  10.1111/cge.12455
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-25860915, KAKENHI-PROJECT-26461549
[Journal Article] Severe manifestations of hand-foot-genital syndrome associated with a novel HOXA13 mutation.2014
- Author(s)
  Imagawa E, Kayserili H, Nishimura G, Nakashima M, Tsurusaki Y, Saitsu H,Ikegawa S, Matsumoto N, Miyake N.
- Journal Title
  
  Am J Med Genet A.
  
  Volume: 164A Issue: 9 Pages: 2398-402
- DOI
  10.1002/ajmg.a.36648
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 32014
- Author(s)
  Nakashima M, Kashii H, Murakami Y, Kato M, Tsurusaki Y, Miyake N, Kubota M, Kinoshita T, Saitsu H, Matsumoto N.
- Journal Title
  
  Neurogenet
  
  Volume: 15（3） Issue: 3 Pages: 193-200
- DOI
  10.1007/s10048-014-0408-y
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PUBLICLY-25129705, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860874, KAKENHI-PROJECT-25860915
[Journal Article] MLL2 and KDM6A mutations in patients with Kabuki syndrome.2013
- Author(s)
  Miyake N*, Koshimizu E, Okamoto N, Mizuno S, Ogata T,at all
- Journal Title
  
  Am J Med Genet A
  
  Volume: 161 Issue: 9 Pages: 2234-2243
- DOI
  10.1002/ajmg.a.36072
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-23390268, KAKENHI-PROJECT-23590383, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24390199, KAKENHI-PROJECT-24591531, KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-25293084, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy2013
- Author(s)
  Higashiyama Y, Doi H, Wakabayashi M, Tsurusaki Y, Miyake N, Saitsu H, Ohba C, Fukai R, Miyatake S, Joki H, Koyano S, Suzuki Y, Tanaka F, Kuroiwa Y, Matsumoto N
- Journal Title
  
  Mov Disord
  
  Volume: 28 Issue: 4 Pages: 552-553
- DOI
  10.1002/mds.25296
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22129005, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24790893, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] Co-occurrence of 22q11 deletion syndrome and HDR Syndrome.2013
- Author(s)
  Fukai R, Ochi N, Murakamia A, Nakashima M, Tsurusakia Y, Saitsu H, *Matsumoto N, *Miyake N.
- Journal Title
  
  Am J Med Genet Part A
  
  Volume: 161 Issue: 10 Pages: 2576-2581
- DOI
  10.1002/ajmg.a.36083
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood2013
- Author(s)
  Saitsu H, Nishimura T, Muramatsu K, Kodera H, Kumada S, Sugai K, Kasai-Yoshida E, Sawaura N, Nishida H, Hoshino A, Ryujin F, Yoshioka S, Nishiyama K, Kondo Y, Tsurusaki Y, Nakashima M, Miyake N, Arakawa H, Kato M, Mizushima, Matsumoto N
- Journal Title
  
  Nat Genet
  
  Volume: 45 Issue: 4 Pages: 445-449
- DOI
  10.1038/ng.2562
- Peer Reviewed
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome.2013
- Author(s)
  Nakamura K, et al., Miyake N, et al., *Matsumoto N, *Saitsu H (* denotes co-corresponding).
- Journal Title
  
  Neurology
  
  Volume: 81 Issue: 11 Pages: 992-998
- DOI
  10.1212/wnl.0b013e3182a43e57
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24591500, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] Diagnostic utility of whole exome sequencing in cerebellar atrophy in childhood.2013
- Author(s)
  Ohba C, Osaka H, Iai M, Yamashita S, Suzuki S, Aida N, Doi H, Tomita-Katsumoto A, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Tanaka F, *Matsumoto N, *Saitsu H (*: co-correspondence).
- Journal Title
  
  Neurogenet
  
  Volume: 14 Issue: 3-4 Pages: 225-232
- DOI
  10.1007/s10048-013-0375-8
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24390261, KAKENHI-PROJECT-24790893, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition Microphthalmia with Limb Anomalies-like.2013
- Author(s)
  Kondo Y, Koshimizu E, Megarbane A, Hamanoue H, Okada I, Nishiyama K, Kodera H, Miyatake S, Tsurusaki Y, Nakashima M, Doi H, Miyake N, Saitsu H, *Matsumoto N.
- Journal Title
  
  Am J Med Genet Part A
  
  Volume: 161A Issue: 7 Pages: 1543-1546
- DOI
  10.1002/ajmg.a.35983
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24790893, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] Performance comparison of bench-top next generation sequencers using microdroplet PCR-based enrichment for targeted sequencing in patients with autism spectrum disorder.2013
- Author(s)
  Koshimizu E#, Miyatake S# (# denotes equal contribution), Okamoto N, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N.
- Journal Title
  
  Plos One
  
  Volume: 8 Issue: 9 Pages: e74167-e74167
- DOI
  10.1371/journal.pone.0074167
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] Clinical correlations of mutations affecting six components of the SWI/SNF complex : Detailed description of 21 patients and a review of the literature2013
- Author(s)
  Kosho T, Okamoto N, Ohashi H, Yamagata T, Matsumoto N (27人中11番目)
- Journal Title
  
  Am J Med Genet A
  
  Volume: 161 Issue: 6 Pages: 1221-1237
- DOI
  10.1002/ajmg.a.35933
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23390275, KAKENHI-PROJECT-23590383, KAKENHI-PROJECT-23591506, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy2013
- Author(s)
  Ravenscroft G, Ogata K, Shiina M, Matsumoto N, Laing NG et al.
- Journal Title
  
  Am J Hum Genet
  
  Volume: 93 Issue: 1 Pages: 6-18
- DOI
  10.1016/j.ajhg.2013.05.004
- Peer Reviewed
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24790893, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] Identification of a novel homozygous SPG7 mutation in a Japanese patient with spastic ataxia: making an efficient diagnosis using exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia2013
- Author(s)
  Doi H, Ohba C, Tsurusaki Y, Miyatake S, Miyake N, Saitsu H, Kawamoto Y, Yoshida T, Koyano S, Suzuki Y, Kuroiwa Y, Tanaka F, Matsumoto N.
- Journal Title
  
  Intern Med.
  
  Volume: 52 Pages: 1629-33
- NAID
  130003365707
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25860915
[Journal Article] Mutations in B3GALT6 which Encodes a Glycosaminoglycan Linker Region Enzyme Cause a Spectrum of Skeletal and Connective Tissue Disorders2013
- Author(s)
  Masahiro Nakajima, Shuji Mizumoto et al.
- Journal Title
  
  American Journal of Human Genetics
  
  Volume: in press Issue: 6 Pages: 927-934
- DOI
  10.1016/j.ajhg.2013.04.003
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23790066, KAKENHI-PROJECT-24592230, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860037, KAKENHI-PROJECT-25860915
[Journal Article] Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia2013
- Author(s)
  Iida A, Okamoto N, Miyake N, Nishimura G, Minami S, Sugimoto T, Nakashima M, Tsurusaki Y, Saitsu H, Shiina M, Ogata K, Watanabe S, Ohashi H, Matsumoto N, Ikegawa S
- Journal Title
  
  J Hum Genet
  
  Volume: 58 Issue: 6 Pages: 391-394
- DOI
  10.1038/jhg.2013.25
- NAID
  10031184228
- Peer Reviewed
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia syndrome.2013
- Author(s)
  Nakajima J, Eminoglu TF, Vatansever G, Nakashima M, Tsurusakia Y, Saitsu H, Kawashima H, *Matsumoto N, *Miyake N (*: co-correspondence).
- Journal Title
  
  J Hum Genet
  
  Volume: 58 Issue: 12 Pages: 822-824
- DOI
  10.1038/jhg.2013.104
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation2013
- Author(s)
  Kato M, …Saitsu H.
- Journal Title
  
  Epilepsia
  
  Volume: in press Issue: 7 Pages: 1282-7
- DOI
  10.1111/epi.12200
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22689011, KAKENHI-PROJECT-23390275, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24591500, KAKENHI-PROJECT-24791060, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy.2013
- Author(s)
  Nakamura, K., et al.,
- Journal Title
  
  Am. J. Hum. Genet.
  
  Volume: 93 Issue: 3 Pages: 496-505
- DOI
  10.1016/j.ajhg.2013.07.014
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23500444, KAKENHI-PROJECT-23612008, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24659508, KAKENHI-PROJECT-25293052, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] A Unique Case of de novo 5q33.3q34 Triplication with Uniparental Isodisomy of 5q34qter.2013
- Author(s)
  Fujita A, Suzumura H, Nakashima M, Tsurusaki Y, Saitsu H, Harada N, *Matsumoto N,*Miyake N.
- Journal Title
  
  Am J Med Genet Part A
  
  Volume: 161 Issue: 8 Pages: 1904-1909
- DOI
  10.1002/ajmg.a.36026
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy2013
- Author(s)
  Kodera H, Nakamura K, Osaka H, Maegaki Y, Haginoya K, Mizumoto S, Kato M, Okamoto N, Iai M, Kondo Y, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Hayasaka K, Sugahara K, Yuasa I, Wada Y, Matsumoto N, Saitsu H.
- Journal Title
  
  Hum Mutat
  
  Volume: 34 Issue: 12 Pages: 1708-1714
- DOI
  10.1002/humu.22446
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23390081, KAKENHI-PROJECT-23590849, KAKENHI-PROJECT-23591497, KAKENHI-PUBLICLY-24110501, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24591500, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] Target capture sequencing for detection of mutations and copy number changes causing early-onset epileptic encephalopathy.2013
- Author(s)
  Kodera H, Kato M, Nord AS, Walsh T, Lee M, Yamanaka G, Tohyama J, Nakamura K, Nakagawa E, Ikeda T, Ben-Zeev B, Lev D, Lerman-Sagie T, Straussberg R, Tanabe S, Ueda K, Amamoto M, Ohta S, Nododa Y, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Hayasaka K, King M-C, Matsumoto N, *Saitsu H.
- Journal Title
  
  Epilepsia
  
  Volume: 54 Issue: 7 Pages: 1262-1269
- DOI
  10.1111/epi.12203
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24591500, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Presentation] Novel mutations of COL4A1 in four Japanese patients with variable CNS involvements2019
- Author(s)
  N. Nishimura, Y. Enomoto, Y. Tsurusaki, T. Kumaki, H. Murakami, Y. Kuroda, T. Goto, K. Kurosawa
- Organizer
  American Society of Human Genetics 2019 Annual Meeting
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K19536
[Presentation] The refinement of 16p13.3 microdeletion syndrome from a case presentation of a girl with epilepsy, intellectual disability, and distinctive dysmorphic features2019
- Author(s)
  Y. Kuroda, H. Murakami, Y. Kimura, Y. Enomoto, Y. Tsurusaki, T. Uehara, K. Kosaki, K. Kurosawa
- Organizer
  American Society of Human Genetics 2019 Annual Meeting
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K19536
[Presentation] Pathogenic variants in 77 individuals with Coffin-Siris syndrome2019
- Author(s)
  F. Sekiguchi, N. Miyake, Y. Tsurusaki, N. Matsumoto
- Organizer
  American Society of Human Genetics 2019 Annual Meeting
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K19536
[Presentation] Complex rearrangements of CREBBP detected in patients with Rubinstein-Taybi syndrome (RSTS)2019
- Author(s)
  Y. Enomoto, Y. Tsurusaki, Y. Kuroda, H. Murakami, Y. Kimura, S. Shiiya, T. Naruto, Y. Kido, K. Kurosawa
- Organizer
  American Society of Human Genetics 2019 Annual Meeting
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K19536
[Presentation] Novel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly2018
- Author(s)
  Y. Tsurusaki, Y. Sato, J. Shibasaki, N. Aida, K. Hiiragi, Y. Kimura, M. Akahira-Azuma, Y. Enomoto, K. Kurosawa
- Organizer
  European Society of Human Genetics 2018 Meeting
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K19536
[Presentation] De novo DPF2 variant in a Japanese patient with Coffin-Siris syndrome2018
- Author(s)
  Y. Tsurusaki, T. Uehara, T. Takenouchi, Y. Enomoto, K. Kosaki, K. Kurosawa
- Organizer
  日本人類遺伝学会第63回大会
- Data Source
  KAKENHI-PROJECT-17K19536
[Presentation] Causative novel USP9X variants in two Japanese patients with X-linked intellectual disability2018
- Author(s)
  Y. Tsurusaki, Y. Kuroda, H. Murakami, Y. Enomoto, Y. Kimura, Y. Yamanouchi, E. Kondoh, K. Ouchi, M. Masuno, K. Kurosawa
- Organizer
  American Society of Human Genetics 2018 Meeting
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K19536
[Presentation] Novel AHDC1 mutations cause intellectual disability and developmental delay2017
- Author(s)
  Y. Tsurusaki, Y. Enomoto, K. Ida, K. Kurosawa
- Organizer
  American Society of Human Genetics 2017 Meeting
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K19536
[Presentation] Homozygous deletion in RECQL4 caused by the rare identical haplotype2017
- Author(s)
  Y. Enomoto, Y. Tsurusaki, T. Yokoi, M. Minatogawa, M. Umegae, T. Naruto, T. Shimokaze, K. Kurosawa
- Organizer
  The European Society of Human Genetics 2017 Meeting
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K19536
[Presentation] Microdeletion of 17q21.31 causes a novel malformation syndrome2017
- Author(s)
  K. Kurosawa, M. Minatogawa, T. Yokoi, Y. Enomoto, K. Ida, N. Harada, J. Nagai, Y. Tsurusaki
- Organizer
  American Society of Human Genetics 2017 Meeting
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K19536
[Presentation] Phenotype expansion for Kosaki Overgrowth Syndrome2017
- Author(s)
  K. Kosaki, M. Minatogawa, T. Takenouchi, Y. Tsurusaki, F. Iwasaki, T. Uehara, C. J. Curry, K. Kurosawa
- Organizer
  The European Society of Human Genetics 2017 Meeting
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K19536
[Presentation] De novo missense variant in CSNK2A1 can cause intellectual disability, behavioral problem, and dysmorphic features: The first male child with Okur-Chung neurodevelopmental syndrome2017
- Author(s)
  M. Akahira-Azuma, Y. Tsurusaki, Y. Enomoto, M. Minatogawa, T. Yokoi, K. Kurosawa
- Organizer
  American Society of Human Genetics 2017 Meeting
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K19536
[Presentation] Early development of rare tumors in individuals with congenital malformation syndrome.2016
- Author(s)
  Minatogawa M, Iwasaki F, Fukuda K, Hatano C, Yokoi T, Enomoto Y, Ida K, Tsurusaki Y, Harada N, Saitou T, Nagai J, Goto H, Kurosawa K
- Organizer
  The 13th International Congress of Human Genetics
- Place of Presentation
  京都国際会議場（京都府京都市）
- Year and Date
  2016-04-03
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26461538
[Presentation] Early debelopment of rare tumors in individuals with congenital malformation syndrome2016
- Author(s)
  M. Minatogawa, F. Iwasaki, K. Fukuda, C. Hatano, T. Yokoi, Y. Enomoto, K. Ida, Y. Tsurusaki, N. Harada, T. Saito, J. Nagai, H. Goto, K. Kurosawa
- Organizer
  The 13th International Congress of Human Genetics in 2016
- Place of Presentation
  国立京都国際会館 (京都府京都市左京区)
- Year and Date
  2016-04-03
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K19660
[Presentation] Dosage Changes of NIPBL cause various types of neurodevelopmental disability.2016
- Author(s)
  Hatano C, Yokoi T, Enomoto Y, Tsurusaki Y, Saito T, Nagai J, Kurosawa K
- Organizer
  he 13th International Congress of Human Genetics
- Place of Presentation
  京都国際会議場（京都府京都市）
- Year and Date
  2016-04-03
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26461538
[Presentation] Molecular genetic analysis of 30 families with Joubert syndrome and related disorders2016
- Author(s)
  T. Suzuki, N. Miyake, Y. Tsurusaki, M. Nakashima, H. Saitsu, S. Takeda, N. Matsumoto
- Organizer
  American Society of Human Genetics 2016 Meeting
- Place of Presentation
  Vancouver (Canada)
- Year and Date
  2016-10-18
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K19660
[Presentation] Cerebral vascular malformations in patients with ACTA2 mutations2016
- Author(s)
  C. Abe, T. Yokoi, M. Takagi, Y. Enomoto, Y. Tsurusaki, T. Naruto, T. Goto, H. Ueda, Y. Fujii, N. Aida, K. Kurosawa
- Organizer
  American Society of Human Genetics 2016 Meeting
- Place of Presentation
  Vancouver (Canada)
- Year and Date
  2016-10-18
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K19660
[Presentation] De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing2016
- Author(s)
  H. Saitsu, T. Akita, J. Tohyama, H. Goldberg-Stern, Y. Kobayashi, R. Cohen, M. Kato, C. Ohba, S. Miyatake, Y. Tsurusaki, M. Nakashima, N. Miyake, A. Fukuda, N. Matsumoto
- Organizer
  The 13th International Congress of Human Genetics in 2016
- Place of Presentation
  国立京都国際会館 (京都府京都市左京区)
- Year and Date
  2016-04-03
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K19660
[Presentation] A case of mandibulofacial dysostosis with microcephaly presenting with epilepsy2016
- Author(s)
  M. Matsuo, M. Sakauchi, A. Yamauchi, Y. Ito, T. Yamamoto, N. Okamoto, Y. Tsurusaki, N. Miyake, N. Matsumoto, K. Saito
- Organizer
  The 13th International Congress of Human Genetics in 2016
- Place of Presentation
  国立京都国際会館 (京都府京都市左京区)
- Year and Date
  2016-04-03
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K19660
[Presentation] Gross insertion in FBN1 causes Marfan syndrome2016
- Author(s)
  T. Yokoi, C. Hatano, Y. Tsurusaki, Y. Enomoto, T. Naruto, K. Kurosawa
- Organizer
  The 13th International Congress of Human Genetics in 2016
- Place of Presentation
  国立京都国際会館 (京都府京都市左京区)
- Year and Date
  2016-04-03
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K19660
[Presentation] The comprehensive genetic analysis of Rubinstein-Taybi syndrome (RSTS)2016
- Author(s)
  Y. Enomoto, T. Yokoi, C. Hatano, I. Ohashi, Y. Kuroda, Y. Tsurusaki, K. Ida, T. Naruto, K. Kurosawa
- Organizer
  The 13th International Congress of Human Genetics in 2016
- Place of Presentation
  国立京都国際会館 (京都府京都市左京区)
- Year and Date
  2016-04-03
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K19660
[Presentation] Low-prevalence somatic TSC2 mutations in sporadic lymphangioleiomyomatosis identified by deep-sequencing2016
- Author(s)
  A. Fujita, K. Ando, E. Kobayashi, K. Mitani, K. Okudera, M. Nakashima, S. Miyatake, Y. Tsurusaki, H. Saitsu, K. Seyama, N. Miyake, N. Matsumoto
- Organizer
  The 13th International Congress of Human Genetics in 2016
- Place of Presentation
  国立京都国際会館 (京都府京都市左京区)
- Year and Date
  2016-04-03
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K19660
[Presentation] Whole exome sequence identified disease-causing CNVs of VPS13B responsible for Cohen syndrome in siblings with non-syndromic intellectual disability2016
- Author(s)
  Y. Enomoto, Y. Tsurusaki, T. Yokoi, M. Minatogawa, C. Hatano-Abe, K. Ida, T. Naruto, J. Mitsui, S. Tsuji, S. Morishita, K. Kurosawa
- Organizer
  American Society of Human Genetics 2016 Meeting
- Place of Presentation
  Vancouver (Canada)
- Year and Date
  2016-10-18
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K19660
[Presentation] Next-generation sequencing identifies novel ARID1B mutations in patients with Coffin-Siris syndrome2016
- Author(s)
  Y. Tsurusaki, Y. Enomoto, T. Yokoi, C. Hatano, K. Ida, K. Kurosawa
- Organizer
  The 13th International Congress of Human Genetics in 2016
- Place of Presentation
  国立京都国際会館 (京都府京都市左京区)
- Year and Date
  2016-04-03
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K19660
[Presentation] Dosage changes of NIPBL cause various types of neurodevelopmental disability2016
- Author(s)
  C. Hatano, T. Yokoi, Y. Enomoto, Y. Tsurusaki, T. Saito, J. Nagai, K. Kurosawa
- Organizer
  The 13th International Congress of Human Genetics in 2016
- Place of Presentation
  国立京都国際会館 (京都府京都市左京区)
- Year and Date
  2016-04-03
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K19660
[Presentation] Somatic mosaicism in Nemaline myopathy detected by next generation sequencing2016
- Author(s)
  T. Yokoi, M. Minatogawa, C. Abe, Y. Tsurusaki, Y. Enomoto, K. Watanabe, T. Naruto, K. Kurosawa
- Organizer
  American Society of Human Genetics 2016 Meeting
- Place of Presentation
  Vancouver (Canada)
- Year and Date
  2016-10-18
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K19660
[Presentation] The new phenotype observed in Coffin-Siris syndrome patients with the mutations of the ARID1B2016
- Author(s)
  Y. Tsurusaki, Y. Enomoto, T. Yokoi, M. Minatogawa, C. Hatano-Abe, K. Ida, T. Naruto, K. Kurosawa
- Organizer
  American Society of Human Genetics 2016 Meeting
- Place of Presentation
  Vancouver (Canada)
- Year and Date
  2016-10-18
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K19660
[Presentation] Next-generation sequencing identifies novel ARID1B mutations in patients with Coffin-Siris syndrome.2016
- Author(s)
  Tsurusaki Y, Enomoto Y, Yokoi T, Hatano C, Ida K, Kurosawa K
- Organizer
  The 13th International Congress of Human Genetics
- Place of Presentation
  京都国際会議場（京都府京都市）
- Year and Date
  2016-04-03
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26461538
[Presentation] Broadening the phenotypic spectrum of ANKRD11-related stndrome2016
- Author(s)
  S. Miyatake, N. Okamoto, Z. Stark, Y. Tsurusaki, M. Nakashima, H. Saitsu, N. Miyake, A. Ohtake, N. Matsumoto
- Organizer
  The 13th International Congress of Human Genetics in 2016
- Place of Presentation
  国立京都国際会館 (京都府京都市左京区)
- Year and Date
  2016-04-03
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K19660
[Presentation] 次世代シーケンサー(NGS)を用いて診断したKBG症候群の2例2016
- Author(s)
  中村航、羽田野ちひろ、横井貴之、黒澤健司、榎本友美、鶴崎美徳、原田法彰、永井淳一
- Organizer
  第339回日本小児科学会神奈川県地方会
- Place of Presentation
  神奈川県総合医療会館（神奈川県横浜市中区）
- Year and Date
  2016-03-12
- Data Source
  KAKENHI-PROJECT-26461538
[Presentation] De novo DNM1 mutations in two cases of epileptic encephalopathy2016
- Author(s)
  M. Nakashima, T. Kouga, C. M. Lourenco, M. Shiina, T. Goto, Y. Tsurusaki, S. Miyatake, N. Miyake, H. Saitsu, K. Ogata, H. Osaka, N. Matsumoto
- Organizer
  The 13th International Congress of Human Genetics in 2016
- Place of Presentation
  国立京都国際会館 (京都府京都市左京区)
- Year and Date
  2016-04-03
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K19660
[Presentation] 次世代シーケンサーにより診断されたKBG症候群の臨床像2016
- Author(s)
  横井貴之、湊川真理、羽田野ちひろ、榎本友美、鶴崎美徳、成戸卓也、小崎健次郎、黒澤健司
- Organizer
  第39回日本小児遺伝学会
- Place of Presentation
  慶應義塾大学（東京都港区）
- Year and Date
  2016-12-09
- Data Source
  KAKENHI-PROJECT-26461538
[Presentation] A double mutation including a novel mutation of SLC9A9 gene and mosaic mutation of PORCN gene in a male patient with multiple congenital anomalies, intellectual disability, and autism spectrum disorder2016
- Author(s)
  M. Minatogawa, C. Abe, T. Yokoi, Y. Enomoto, K. Ida, Y. Tsurusaki, N. Harada, T. Naruto, K. Kurosawa
- Organizer
  American Society of Human Genetics 2016 Meeting
- Place of Presentation
  Vancouver (Canada)
- Year and Date
  2016-10-18
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K19660
[Presentation] Detecting copy number variations by analyzing whole exome sequencing data using the eXome Hidden Markov Model2015
- Author(s)
  S. Miyatake, E. Koshimizu, A. Fujita, R. Fukai, E. Imagawa, C. Ohba, I. Kuki, A. Araki, Y. Makita, T. Ogata, M. Nakashima, Y. Tsurusaki, N. Miyake, H. Saitsu, N. Matsumoto
- Organizer
  American Society of Human Genetics 2015 Meeting
- Place of Presentation
  Baltimore(USA)
- Year and Date
  2015-10-06
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K19660
[Presentation] Somatic mutations in the MTOR gene cause focal cortical dysplasia type IIb2015
- Author(s)
  M. Nakashima, H. Saitsu, N. Takei, J. Tohyama, M. Kato, H. Kitaura, M. Shiina, H. Sirouzu, H. Masuda, K. Watanabe, C. Ohba, Y. Tsurusaki, N. Miyake, Y. Zheng, T. Sato, H. Takebayashi, K. Ogata, S. Kameyama, A. Kakita, N. Matsumoto
- Organizer
  American Society of Human Genetics 2015 Meeting
- Place of Presentation
  Baltimore(USA)
- Year and Date
  2015-10-06
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K19660
[Presentation] Clinical and genetic analysis of Wiedemann–Steiner syndrome caused by KMT2A mutations2015
- Author(s)
  N. Miyake, Y. Tsurusaki, E. Koshimizu, N. Niikawa, N. Matsumoto
- Organizer
  American Society of Human Genetics 2015 Meeting
- Place of Presentation
  Baltimore(USA)
- Year and Date
  2015-10-06
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K19660
[Presentation] A nonsense C12orf65 mutation in Indian-Jewish monozygotic female twins with Leigh syndrome2015
- Author(s)
  E. Imagawa, A. Fattal-Valevski, O. Eyal, S. Miyatake, A. Saada, M. Nakashima, Y. Tsurusaki, H. Saitsu, N. Miyake, N. Matsumoto
- Organizer
  American Society of Human Genetics 2015 Meeting
- Place of Presentation
  Baltimore(USA)
- Year and Date
  2015-10-06
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K19660
[Presentation] Novel compound heterozygous LIAS mutations cause glycine encephalopathy2015
- Author(s)
  Y. Tsurusaki, M. Nakashima, H. Saitsu, N. Miyake, N. Matsumoto
- Organizer
  American Society of Human Genetics 2015 Meeting
- Place of Presentation
  Baltimore(USA)
- Year and Date
  2015-10-06
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K19660
[Presentation] Loss of function mutation of EGFR in compound heterozygous state causes severe skin defect, gastrointestinal dysfunction and electrolyte imbalance2015
- Author(s)
  T. Yokoi, C. Hatano, Y. Tsurusaki, Y. Enomoto, T. Naruto, S. Hayashi, M. Kobayashi, H. Ida, K. Kurosawa
- Organizer
  American Society of Human Genetics 2015 Meeting
- Place of Presentation
  Baltimore(USA)
- Year and Date
  2015-10-06
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K19660
[Presentation] Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay2015
- Author(s)
  H. Saitsu, R. Fukai, B. Ben-Zeev, Y. Sakai, M. Mimaki, N. Okamoto, Y. Suzuki, Y. Monden, H. Saito, B. Tziperman, M. Torio, S. Akamine, N. Takahashi, H. Osaka, T. Yamagata, K. Nakamura, Y. Tsurusaki, M. Nakashima, N. Miyake, M. Shiina, K. Ogata, N. Matsumoto
- Organizer
  American Society of Human Genetics 2015 Meeting
- Place of Presentation
  Baltimore(USA)
- Year and Date
  2015-10-06
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K19660
[Presentation] A CHARGE syndrome-like phenotype in a patient with EP300 splicing
- Author(s)
  S. Mizuno, Y. Tsurusaki, Y. Muramatsu, K. Maruyama, N. Niimi, K. Iio, N. Matsumoto
- Organizer
  American Society of Human Genetics 2014 Meeting
- Place of Presentation
  San Diego (USA)
- Year and Date
  2014-10-18 – 2014-10-22
- Data Source
  KAKENHI-PROJECT-25860915
[Presentation] Deep sequencing detects very low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathy
- Author(s)
  E. Koshimizu, S. Miyatake, Y. K. Hayashi, K. Miya, M. Shiina, M. Nakashima, Y. Tsurusaki, N. Miyake, H. Saitsu, K. Ogata, I. Nishino, N. Matsumoto
- Organizer
  American Society of Human Genetics 2014 Meeting
- Place of Presentation
  San Diego (USA)
- Year and Date
  2014-10-18 – 2014-10-22
- Data Source
  KAKENHI-PROJECT-25860915
[Presentation] Mutations in COG2 Encoding a Subunit of the Conserved Oligomeric Golgi Complex Cause a Congenital Disorder of Glycosylation
- Author(s)
  H. Kodera, N. Ando, I. Yuasa, Y. Wada, Y. Tsurusaki, M. Nakashima, N. Miyake, S. Saitoh, N. Matsumoto, H. Saitsu
- Organizer
  American Society of Human Genetics 2014 Meeting
- Place of Presentation
  San Diego (USA)
- Year and Date
  2014-10-18 – 2014-10-22
- Data Source
  KAKENHI-PROJECT-25860915
[Presentation] 全エクソーム解析による先天性異常症候群コフィン- サイリス症候群の新規責任遺伝子SOX11の同定
- Author(s)
  鶴崎美徳、大橋博文、岡本伸彦、輿水江里子、中島光子、才津浩智、三宅紀子、松本直通
- Organizer
  第59回日本人類遺伝学会・第21回日本遺伝子診療学会合同大会
- Place of Presentation
  タワーホール船堀 (東京都江戸川区)
- Year and Date
  2014-11-19 – 2014-11-22
- Data Source
  KAKENHI-PROJECT-25860915
[Presentation] Coffin-Siris syndrome is a BAF complex disorder
- Author(s)
  Y. Tsurusaki, M. Nakashima, H. Saitsu, N. Miyake, N. Matsumoto
- Organizer
  American Society of Human Genetics 2014 Meeting
- Place of Presentation
  San Diego (USA)
- Year and Date
  2014-10-18 – 2014-10-22
- Data Source
  KAKENHI-PROJECT-25860915
[Presentation] WTX 遺伝子変異を認めたOsteopathia striata with cranial sclerosis に肝芽腫を合併した女児の1 例
- Author(s)
  藤田京志、越知信彦、藤巻英彦、村松秀城、高橋義行、夏目淳、小島勢二、中島光子、鶴崎美徳、才津浩智、松本直通、三宅紀子
- Organizer
  第59回日本人類遺伝学会・第21回日本遺伝子診療学会合同大会
- Place of Presentation
  タワーホール船堀 (東京都江戸川区)
- Year and Date
  2014-11-19 – 2014-11-22
- Data Source
  KAKENHI-PROJECT-25860915
[Presentation] Wieacker-Wolff 症候群の遺伝カウンセリング
- Author(s)
  三島祐子、鶴崎美徳、松本直通、岡本伸彦
- Organizer
  第59回日本人類遺伝学会・第21回日本遺伝子診療学会合同大会
- Place of Presentation
  タワーホール船堀 (東京都江戸川区)
- Year and Date
  2014-11-19 – 2014-11-22
- Data Source
  KAKENHI-PROJECT-25860915
[Presentation] CHARGE 症候群様の表現形を呈したEP300 スプライス変異を有する女児例
- Author(s)
  水野誠司、鶴崎美徳、村松友佳子、飯尾賢治、新美教弘、丸山幸一、松本直通
- Organizer
  第59回日本人類遺伝学会・第21回日本遺伝子診療学会合同大会
- Place of Presentation
  タワーホール船堀 (東京都江戸川区)
- Year and Date
  2014-11-19 – 2014-11-22
- Data Source
  KAKENHI-PROJECT-25860915
[Presentation] Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3
- Author(s)
  M. Nakashima, H. Kashii, Y. Murakami, M. Kato, Y. Tsurusaki, N. Miyake, M. Kubota, T. Kinoshita, H. Saitsu, N. Matsumoto
- Organizer
  American Society of Human Genetics 2014 Meeting
- Place of Presentation
  San Diego (USA)
- Year and Date
  2014-10-18 – 2014-10-22
- Data Source
  KAKENHI-PROJECT-25860915
[Presentation] 次世代シーケンサーを用いた超低頻度モザイク変異の検出：ネマリンミオパチーの一例
- Author(s)
  輿水江里子、宮武聡子、林由起子、宮一志、椎名政昭、中島光子、鶴崎美徳、三宅紀子、才津浩智、緒方一博、西野一三、松本直通
- Organizer
  第59回日本人類遺伝学会・第21回日本遺伝子診療学会合同大会
- Place of Presentation
  タワーホール船堀 (東京都江戸川区)
- Year and Date
  2014-11-19 – 2014-11-22
- Data Source
  KAKENHI-PROJECT-25860915
[Presentation] 全エキソーム解析で片親性イソダイソミーに起因するホモ接合性変異が同定できた巨大軸索ニューロパチー症例
- Author(s)
  宮武聡子、多田弘子、守屋聡、高梨潤一、平野嘉子、林雅晴、大矢寧、中島光子、鶴崎美徳、三宅紀子、松本直通、才津浩智
- Organizer
  第59回日本人類遺伝学会・第21回日本遺伝子診療学会合同大会
- Place of Presentation
  タワーホール船堀 (東京都江戸川区)
- Year and Date
  2014-11-19 – 2014-11-22
- Data Source
  KAKENHI-PROJECT-25860915
[Presentation] 先天性糖鎖合成異常症の新規原因遺伝子COG2 の同定
- Author(s)
  小寺啓文、安藤直樹、湯浅勲、和田芳直、鶴崎美徳、中島光子、三宅紀子、齋藤伸治、松本直通、才津浩智
- Organizer
  第59回日本人類遺伝学会・第21回日本遺伝子診療学会合同大会
- Place of Presentation
  タワーホール船堀 (東京都江戸川区)
- Year and Date
  2014-11-19 – 2014-11-22
- Data Source
  KAKENHI-PROJECT-25860915
[Presentation] HOXA13 変異を認めた重症型Hand-foot-genital syndrome の1 症例
- Author(s)
  今川英里、Hulya Kayserili、西村玄、中島光子、鶴崎美徳、才津浩智、池川志郎、松本直通、三宅紀子
- Organizer
  第59回日本人類遺伝学会・第21回日本遺伝子診療学会合同大会
- Place of Presentation
  タワーホール船堀 (東京都江戸川区)
- Year and Date
  2014-11-19 – 2014-11-22
- Data Source
  KAKENHI-PROJECT-25860915
[Presentation] SKI 遺伝子変異が同定されたShprinzen-Goldberg 症候群の男児
- Author(s)
  加藤芙弥子、松本直通、鶴崎美徳、小崎理華、中島信一、深見真紀、緒方勤
- Organizer
  第59回日本人類遺伝学会・第21回日本遺伝子診療学会合同大会
- Place of Presentation
  タワーホール船堀 (東京都江戸川区)
- Year and Date
  2014-11-19 – 2014-11-22
- Data Source
  KAKENHI-PROJECT-25860915
[Presentation] A hemizygous GYG2 mutation in Japanese siblings showing Leigh syndrome without marked elevation of lactate and pyruvate
- Author(s)
  E. Imagawa, H. Osaka, A. Yamashita, M. Shiina, E. Takahashi, H. Sugie, M. Nakashima, Y. Tsurusaki, H. Saitsu, K. Ogata, N. Matsumoto, N. Miyake
- Organizer
  American Society of Human Genetics 2014 Meeting
- Place of Presentation
  San Diego (USA)
- Year and Date
  2014-10-18 – 2014-10-22
- Data Source
  KAKENHI-PROJECT-25860915
[Presentation] De novo SOX11 mutations cause Coffin-Siris syndrome
- Author(s)
  N. Matsumoto, Y. Tsurusaki, E. Koshimizu, H. Ohashi, S. Phadke, N. Miyake
- Organizer
  American Society of Human Genetics 2014 Meeting
- Place of Presentation
  San Diego (USA)
- Year and Date
  2014-10-18 – 2014-10-22
- Data Source
  KAKENHI-PROJECT-25860915
[Presentation] Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies
- Author(s)
  S. Miyatake, H. Osaka, M. Shiina, M. Sasaki, J. Takanashi, K. Haginoya, T. Wada, M. Morimoto, N. Ando, Y. Ikuta, M. Nakashima, Y. Tsurusaki, N. Miyake, N. Matsumoto, H. Saitsu
- Organizer
  American Society of Human Genetics 2014 Meeting
- Place of Presentation
  San Diego (USA)
- Year and Date
  2014-10-18 – 2014-10-22
- Data Source
  KAKENHI-PROJECT-25860915
[Presentation] SCN8A のde novo 変異が原因となる乳児期早期発症の難治性てんかんについての検討
- Author(s)
  大場ちひろ、加藤光広、高橋悟、寺嶋宙、久保田雅也、川脇壽、松藤まゆみ、小島泰子、舘野昭彦、中島光子、西山精視、鶴崎美徳、三宅紀子、田中章景、才津浩智、松本直通
- Organizer
  第59回日本人類遺伝学会・第21回日本遺伝子診療学会合同大会
- Place of Presentation
  タワーホール船堀 (東京都江戸川区)
- Year and Date
  2014-11-19 – 2014-11-22
- Data Source
  KAKENHI-PROJECT-25860915
[Presentation] Early Onset Epileptic Encephalopathy Caused by de novo SCN8A Mutations
- Author(s)
  H. Saitsu, C. Ohaba, M. Kato, S. Takahashi, T. Lerman-Sagie, D. Lev, H. Terashima, M. Kubota, H. Kawawaki, M. Matsufuji, Y. Kojima, A. Tateno, H. Goldberg-Stern, R. Straussberg, D. Marom, E. Leshinsky-Silver, M. Nakashima, K. Nishiyama, Y. Tsurusaki, N. Miyake, F. Tanaka, N. Matsumoto
- Organizer
  American Society of Human Genetics 2014 Meeting
- Place of Presentation
  San Diego (USA)
- Year and Date
  2014-10-18 – 2014-10-22
- Data Source
  KAKENHI-PROJECT-25860915
[Presentation] TUBB4A 変異が引き起こす白質形成不全症の表現型の検討
- Author(s)
  才津浩智、宮武聡子、小坂仁、椎名政昭、佐々木征行、高梨潤一、萩野谷和裕、和田敬仁、森本昌史、安藤直樹、生田陽二、中島光子、鶴崎美徳、三宅紀子、緒方一博、松本直通
- Organizer
  第59回日本人類遺伝学会・第21回日本遺伝子診療学会合同大会
- Place of Presentation
  タワーホール船堀 (東京都江戸川区)
- Year and Date
  2014-11-19 – 2014-11-22
- Data Source
  KAKENHI-PROJECT-25860915

1. Kurosawa Kenji (20277031)

# of Collaborated Projects: 1 results

# of Collaborated Products: 15 results
2. NARUTO Takuya (60438124)

# of Collaborated Projects: 1 results

# of Collaborated Products: 2 results
3. ENOMOTO Yumi (20506290)

# of Collaborated Projects: 1 results

# of Collaborated Products: 6 results
4. SASAKI YASUNORI (70332848)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
5. 成瀬正啓 (00756273)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
6. 田谷雄二 (30197587)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
7. OGATA Tsutomu

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
8. TANAKA Fumiaki

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
9. TANAKA Kiyoji

# of Collaborated Projects: 0 results

# of Collaborated Products: 5 results
10. ISHI Shunsuke

# of Collaborated Projects: 0 results

# of Collaborated Products: 5 results
11. SHIINA Masaaki

# of Collaborated Projects: 0 results

# of Collaborated Products: 3 results
12. FUJITA Atsushi

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
13. MIZUMOTO Shuji

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
14. MURAKAMI Yoshiko

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
15. HIRAKI Yoko

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
16. WATANABE Keisuke

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
17. YASUDA Yuka

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
18. YAMAMORI Hidenaga

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
19. SATO Fumitoshi

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
20. MIGITA Ohsuke

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
21. IMAGAWA Eri

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
22. 松本直通

# of Collaborated Projects: 0 results

# of Collaborated Products: 35 results
23. 土井宏

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
24. 高橋陽介

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
25. 三宅紀子

# of Collaborated Projects: 0 results

# of Collaborated Products: 16 results
26. 小寺啓文

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
27. 山形崇倫

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
28. 緒方一博

# of Collaborated Projects: 0 results

# of Collaborated Products: 9 results
29. 和田芳直

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
30. 山下暁朗

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
31. 才津浩智

# of Collaborated Projects: 0 results

# of Collaborated Products: 3 results
32. 小坂仁

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
33. 吉田邦広

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
34. 石本人士

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
35. 塚口裕康

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
36. 宮武聡子

# of Collaborated Projects: 0 results

# of Collaborated Products: 3 results
37. 菅野秀宣

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
38. 新井一

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
39. 中島光子

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
40. 藤本美智子

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
41. 藤野陽生

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
42. 高野亨子

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
43. 岡田俊

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

Tsurusaki Yoshinori 鶴崎 美徳

TSURUSAKI Yoshinori 鶴崎 美徳

Research Projects

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Co-Researchers

Study for the diagnosis of tongue morphogenesis in the syndromes with growth disorder

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Identification of Mendelian disease-causing genes by RNA sequencingPrincipal Investigator

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The search for causative gene in Coffin-Siris syndromePrincipal Investigator

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Genetic and genomic analysis on the patients with multiple congenital anomalies

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Identification of disease-causing genes for Coffin-Siris syndromePrincipal Investigator

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[Journal Article] Blended phenotype of AP4E1 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 152020

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[Journal Article] Novel CUL7 biallelic mutations alter the skeletal phenotype of 3M syndrome2020

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[Journal Article] Discordant phenotype caused by CASK mutation in siblings with NF12019

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[Journal Article] Pathogenic variants of DYNC2H1, KIAA0556, and PTPN11 associated with hypothalamic hamartoma2019

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[Journal Article] Novel <i>VRK1</i> Mutations in a Patient with Childhood-onset Motor Neuron Disease2019

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[Journal Article] A novel gene (FAM20B encoding glycosaminoglycan xylosylkinase) for neonatal short limb dysplasia resembling Desbuquois dysplasia2019

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[Journal Article] Novel USP9X variants in two patients with X-linked intellectual disability2019

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[Journal Article] A severe form of Ellis-van Creveld syndrome caused by novel mutations in EVC22019

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[Journal Article] Whole‐exome sequencing reveals the subclonal expression of NUP214 ‐ ABL1 fusion gene in T‐cell acute lymphoblastic leukemia2019

Tsurusaki Yoshinori 鶴崎美徳

TSURUSAKI Yoshinori 鶴崎美徳