Identification of Mendelian disease-causing genes by RNA sequencing

• Project/Area Number: 17K19536
• Research Category: Grant-in-Aid for Challenging Research (Exploratory)
• Allocation Type: Multi-year Fund
• Research Field: Biomedical structure and function and related fields
• Research Institution: Sagami Women's University (2019); Kanagawa Children's Medical Center (Clinical Research Institute) (2017-2018)
• Principal Investigator: Tsurusaki Yoshinori 相模女子大学, 栄養科学部, 准教授 (70392040)
• Project Period (FY): 2017-06-30 – 2020-03-31
• Project Status: Completed (Fiscal Year 2019)
• Budget Amount: ¥6,500,000 (Direct Cost: ¥5,000,000、Indirect Cost: ¥1,500,000); Fiscal Year 2019: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000); Fiscal Year 2018: ¥2,600,000 (Direct Cost: ¥2,000,000、Indirect Cost: ¥600,000); Fiscal Year 2017: ¥2,600,000 (Direct Cost: ¥2,000,000、Indirect Cost: ¥600,000)
• Keywords: RNAシークエンス / スプライス異常 / 発現変動遺伝子 / スプライスサイト変異 / RNAシークエンス解析 / 疾患責任遺伝子

Outline of Final Research Achievements

RNA samples derived from three patients with splice site mutation and six patients of unknown causes were examined by RNA sequencing (RNA-seq). RNA-seq detected aberrant splicing in three patients. On the other hand, RNA-seq failed to identification disease-causing genes in six patients.

Academic Significance and Societal Importance of the Research Achievements

原因を特定することができない症例もあったが、発現変動遺伝子よりWESでは解析できなかった発現調節領域（プロモータ、UTRなど）の変異、スプライス異常の転写産物よりイントロンの変異を検出することによって、これまでとは異なった視点で疾患責任遺伝子の同定を行う本研究は大変意義があると考える。

Research Products

• [Journal Article] Blended phenotype of AP4E1 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15 (2020)
  • 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
• [Journal Article] Novel CUL7 biallelic mutations alter the skeletal phenotype of 3M syndrome (2020)
  • 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
• [Journal Article] Novel <i>VRK1</i> Mutations in a Patient with Childhood-onset Motor Neuron Disease (2019)
  • 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: Internal Medicine 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
  • Peer Reviewed / Open Access
• [Journal Article] Two unrelated girls with intellectual disability associated with a truncating mutation in the PPM1D penultimate exon (2019)
  • 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
• [Journal Article] A novel gene (FAM20B encoding glycosaminoglycan xylosylkinase) for neonatal short limb dysplasia resembling Desbuquois dysplasia (2019)
  • 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
• [Journal Article] Discordant phenotype caused by CASK mutation in siblings with NF1 (2019)
  • 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
• [Journal Article] Hemoglobin beta Kanagawa [c.443A>C; p.(Ter148Serext*21)]: A novel β‐globin gene mutation causing dominantly inherited β‐thalassemia (2019)
  • 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
• [Journal Article] Pathogenic variants of DYNC2H1, KIAA0556, and PTPN11 associated with hypothalamic hamartoma (2019)
  • 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
• [Journal Article] A female patient with X‐linked Ohdo syndrome of the Maat‐Kievit‐Brunner phenotype caused by a novel variant of MED12 (2019)
  • 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
• [Journal Article] A severe form of Ellis-van Creveld syndrome caused by novel mutations in EVC2 (2019)
  • 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
• [Journal Article] Genetic abnormalities in a large cohort of Coffin?Siris syndrome patients (2019)
  • 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
• [Journal Article] Whole‐exome sequencing reveals the subclonal expression of NUP214 ‐ ABL1 fusion gene in T‐cell acute lymphoblastic leukemia (2019)
  • 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
• [Journal Article] Novel USP9X variants in two patients with X-linked intellectual disability (2019)
  • 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
• [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
• [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
• [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
• [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
• [Journal Article] Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome (2018)
  • 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
• [Journal Article] Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder (2018)
  • 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
• [Journal Article] Refining the clinical phenotype of Okur-Chung neurodevelopmental syndrome (2018)
  • 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
• [Journal Article] Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations (2018)
  • 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
• [Journal Article] De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy (2018)
  • 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
• [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
• [Journal Article] A novel UBE2A mutation causes X-linked intellectual disability type Nascimento (2017)
  • 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
• [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 / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] Coffin-Siris syndrome and cardiac anomaly with a novel SOX11 mutation (2017)
  • 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
• [Presentation] Pathogenic variants in 77 individuals with Coffin-Siris syndrome (2019)
  • Author(s): F. Sekiguchi, N. Miyake, Y. Tsurusaki, N. Matsumoto
  • Organizer: American Society of Human Genetics 2019 Annual Meeting
  • Int'l Joint Research
• [Presentation] Novel mutations of COL4A1 in four Japanese patients with variable CNS involvements (2019)
  • 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
• [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
• [Presentation] The refinement of 16p13.3 microdeletion syndrome from a case presentation of a girl with epilepsy, intellectual disability, and distinctive dysmorphic features (2019)
  • 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
• [Presentation] 多発性腫瘍素因を認めたCDC73を含む1q31.2q41 構造異常の1 例 (2019)
  • Author(s): 西村 直人、榎本 友美、鶴﨑 美徳、熊木 達郎、村上 博昭、黒田 友紀子、齋藤 敏幸、升野 光雄、黒澤 健司
  • Organizer: 日本人類遺伝学会第64回大会
• [Presentation] NAA10のN 末端アセチルトランスフェラーゼドメインに変異を認めた2 症例 (2019)
  • Author(s): 村上 博昭、榎本 友美、西村 直人、熊木 達郎、鶴﨑 美徳、黒田 友紀子、黒澤 健司
  • Organizer: 日本人類遺伝学会第64回大会
• [Presentation] GNB1遺伝子変異患者で神経脆弱性が示唆されたの症例の検討 (2019)
  • Author(s): 熊木 達郎、木村 雄一、辻 恵、榎本 友美、鶴﨑 美徳、上原 朋子、小崎 健次郎、黒澤 健司、後藤 知英
  • Organizer: 日本人類遺伝学会第64回大会
• [Presentation] 先天性実質性角膜ジストロフィーの日本人1 家系でみつかったDCN 新規変異 (2019)
  • Author(s): 榎本 友美、浅野 みづ季、村上 博昭、黒田 友紀子、鶴﨑 美徳、西村 直人、藤田 剛史、黒澤 健司
  • Organizer: 日本人類遺伝学会第64回大会
• [Presentation] Novel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly (2018)
  • 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
• [Presentation] Causative novel USP9X variants in two Japanese patients with X-linked intellectual disability (2018)
  • 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
• [Presentation] De novo DPF2 variant in a Japanese patient with Coffin-Siris syndrome (2018)
  • 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
• [Presentation] Phenotype expansion for Kosaki Overgrowth Syndrome (2017)
  • 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
• [Presentation] Homozygous deletion in RECQL4 caused by the rare identical haplotype (2017)
  • 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
• [Presentation] Microdeletion of 17q21.31 causes a novel malformation syndrome (2017)
  • 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
• [Presentation] De novo missense variant in CSNK2A1 can cause intellectual disability, behavioral problem, and dysmorphic features: The first male child with Okur-Chung neurodevelopmental syndrome (2017)
  • 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
• [Presentation] Novel AHDC1 mutations cause intellectual disability and developmental delay (2017)
  • Author(s): Y. Tsurusaki, Y. Enomoto, K. Ida, K. Kurosawa
  • Organizer: American Society of Human Genetics 2017 Meeting
  • Int'l Joint Research
• [Presentation] 男児罹患同胞間で異なるKDM5C変異（X連鎖性）を認めた1家系 (2017)
  • Author(s): 藤田 京志、和賀 央子、八谷 靖夫、栗原 栄二、熊田 聡子、竹下 絵里、中川 栄二、井上 健、宮武 聡子、鶴﨑 美徳、中島 光子、才津 浩智、後藤 雄一、三宅 紀子、松本 直通
  • Organizer: 日本人類遺伝学会第62回大会
• [Presentation] 難治性痙攣が終息したNicolaides-Baraitser症候群の日本人男児例 (2017)
  • Author(s): 松尾 真理、小国 弘量、三宅 紀子、鶴﨑 美徳、松本 直通、齋藤 加代子
  • Organizer: 日本人類遺伝学会第62回大会
• [Presentation] NAA10変異を認めたLenz小眼球症の1例 (2017)
  • Author(s): 鈴村 宏、鶴﨑 美徳、岡本 伸彦、今高 城治、吉原 重美、三宅 紀子、松本 直通
  • Organizer: 日本人類遺伝学会第62回大会
• [Presentation] MYPN遺伝子の劣性変異は小児期発症、緩徐進行性のネマリンミオパチーの原因である (2017)
  • Author(s): 宮武 聡子、三橋 里美、林 由起子、輿水 江里子、鶴﨑 美徳、中島 光子、水口 剛、三宅 紀子、才津 浩智、埜中 征哉、西野 一三、松本 直通
  • Organizer: 日本人類遺伝学会第62回大会
• [Presentation] CHD8変異をもった自閉症スペクトラム患者 (2017)
  • Author(s): 榎本 友美、鶴﨑 美徳、赤平 百絵、木村 雄一、成戸 卓也、黒澤 健司
  • Organizer: 日本人類遺伝学会第62回大会
• [Presentation] Spondyloepiphyseal dysplasia congenita (SEDC)の遺伝学的検査による診断例 (2017)
  • Author(s): 赤平 百絵、黒澤 健司、鶴﨑 美徳、榎本 友美、横井 貴之、湊川 真理
  • Organizer: 日本人類遺伝学会第62回大会
• [Presentation] 未診断多発奇形・知的障害に対する診断アルゴリズムの再検討 (2017)
  • Author(s): 横井 貴之、赤平 百絵、湊川 真理、井田 一美、原田 法彰、齋藤 敏幸、永井 淳一、鶴﨑 美徳、榎本 友美、成戸 卓也、黒澤 健司
  • Organizer: 日本人類遺伝学会第62回大会
• [Presentation] 知的障害に関与するGNB1遺伝子のde novo変異 (2017)
  • Author(s): 鶴﨑 美徳、市川 和志、辻 恵、上原 朋子、武内 俊樹、榎本 友美、井田 一美、後藤 知英、小崎 健次郎、黒澤 健司
  • Organizer: 日本人類遺伝学会第62回大会