新井田　要　ニイダ ヨウ

研究者基本情報

研究

研究の概要:
遺伝性疾患の研究は、遺伝子や染色体ゲノム構造の異常が人体にどのような影響を与えるかをダイレクトに観察しうる領域であり、単に希少疾患の診断治療を目的とするのみならず、人間という動物を遺伝子構造から再構築するという特性を持つ。遺伝子疾患研究分野では臨床現場における遺伝学的検査を提供すると同時に、効率的な遺伝子検査法の開発、および遺伝子変異が細胞機能や人体に与える影響について研究を進めている。

専門分野

• 臨床遺伝学
• 人類遺伝学
• 小児科学
• 小児神経学

学歴

• 金沢大学 大学院

学位

• 医学博士

所属学協会

• 2011年日本結節性硬化症学会 理事
• 2014年- 2015年日本小児科学会 専門医試験出題委員
• 2009年日本小児神経学会 評議員
• 2009年日本小児神経学会北陸地方会 会長
• 2002年日本人類遺伝学会 臨床遺伝専門医制度指導医
• 2013年北陸臨床遺伝研究会 会長
• 2015年10月- 2019年日本人類遺伝学会 評議員

研究活動情報

研究分野

• 医歯薬学 / ゲノム科学 / ヒトゲノムシステムの病理
  研究課題: 発生異常をモデルとしたヒトゲノムシステムの解明
  研究の概要: 染色体異常やメンデル遺伝病による多発先天奇形症候群をモデルとしたヒトゲノムシステムの病態解明
• 医歯薬学 / ゲノム科学
  研究課題: 臨床ゲノム医科学
  研究の概要: 効率的な遺伝子診断法の開発と、遺伝子検査・遺伝カウンセリングの一般診療化を目指す。

論文

• Novel PKD2 Missense Mutation p.Ile424Ser in an Individual with Multiple Hepatic Cysts: A Case Report., Miura S, Niida Y, Hashizume C, Fujii A, Takagaki Y, Kusama K, Akazawa S, Minami T, Mukai T, Furuichi K, Tsuchishima M, Ueda N, Takamura H, Koya D, Ito T., Medicines (Basel), 9:25, 2022年03月
• Certificate of acceptance for the manuscript (ijms-1913863) titled: Adaptive immunity against WT1 and SMAD4P130L of EpCAM+ cancer cells in malignant pleural effusion, Koya T, Niida Y, Togi M, Yoshida K, Sakamoto T, Ura H, Togi S, Kato T Jr, Yamada S, Sugiyama H, Koido S, Shimodaira S., Int J Mol Sci., 23:12177, 2022年10月
• Higher Tumor Mutation Burden and Higher PD-L1 Activity Predicts the Efficacy of Immune Checkpoint Inhibitor Treatment in a Patient With Four Lung Cancers. A Case Report., Usuda K, Niida Y, Iwai S, Funasaki A, Sekimura A, Motono N, Yamada S, Uramoto H., Front Oncol., 12:　, 2020年06月
• A comparison of mRNA sequencing (RNA-Seq) library preparation methods for transcriptome analysis., Ura H, Togi S, Niida Y., BMC Genomics, 23:303, 2022年04月
• Poly(A) capture full length cDNA sequencing improves the accuracy and detection ability of transcript quantification and alternative splicing events., Ura H, Togi S, Niida Y., Sci Rep., 12:10599, 2022年06月
• Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex., Togi S, Ura H, Hatanaka H, Niida Y, Int J Mol Sci., 23:11175, 2022年09月
• Establishment of a human induced pluripotent stem cell line, KMUGMCi001-A, from a patient bearing a heterozygous c.772 + 3_772 + 4dup mutation in the ACVRL1 gene leading Telangiectasia, hereditary hemorrhagic, type 2 (HHT2)., Ura H, Togi S, Iwata Y, Ozaki M, Niida Y., Stem Cell Res., 61:　, 2022年03月
• Establishment of a human induced pluripotent stem cell line, KMUGMCi002-A, from a patient bearing a heterozygous c.6362_6364del mutation in the NIPBL gene leading Cornelia de Lange syndrome (CdLS)., Ura H, Togi S, Iwata Y, Ozaki M, Niida Y., Stem Cell Res., 63:　, 2022年07月
• Establishment of a human induced pluripotent stem cell line, KMUGMCi003-A, from a patient with trichothiodystrophy 1 (TTD1) bearing compound heterozygous missense mutations in the ERCC2 gene., Ura H, Togi S, Hatanaka H, Niida Y., Stem Cell Res., 64:　, 2022年08月
• Establishment of a human induced pluripotent stem cell line, KMUGMCi004-A, from a patient bearing a heterozygous c.1832delG mutation in the APC gene leading familial adenomatous polyposis (FAP)., Ura H, Togi S, Hatanaka H, Niida Y., Stem Cell Res., 63:　, 2022年07月
• TSC2 somatic mosaic mutation, including extra-tumor tissue, may be the developmental cause of solitary subependymal giant cell astrocytoma., (Sasaki T), Uda T, Kuki I, Kunihiro N, Okazaki S, Niida Y, Goto T., Childs Nerv Syst., 38:77, 2022年01月
• Identification of ENPP1 Haploinsufficiency in Patients With Diffuse Idiopathic Skeletal Hyperostosis and Early-Onset Osteoporosis., (Kato H), Ansh AJ, Lester ER, Kinoshita Y, Hidaka N, Hoshino Y, Koga M, Taniguchi Y, Uchida T, Yamaguchi H, Niida Y, Nakazato M, Nangaku M, Makita N, Takamura T, Saito T, Braddock DT, Ito N., J Bone Miner Res., 37:1125, 2022年03月
• Membranous Nephropathy-Like Apolipoprotein E Deposition Disease with Apolipoprotein E Toyonaka and Homozygous Apolipoprotein E2/2 without Dyslipidemia, with Characteristic Electron-Dense Deposits., (Koshino A), Takaeda C, Matsuno T, Kitajima S, Iwata Y, Sakai N, Nagahama K, Niida Y, Saito T, Yokoyama H, Wada T., Case Rep Nephrol Dial., 12:96, 2022年06月
• The Detection of Immunity against WT1 and SMAD4P130L of EpCAM+ Cancer Cells in Malignant Pleural Effusion, Terutsugu Koya, Yo Niida, Misa Togi, Kenichi Yoshida, Takuya Sakamoto, Hiroki Ura, Sumihito Togi, Tomohisa Kato Jr, Sohsuke Yamada, Haruo Sugiyama, Shigeo Koido, Shigetaka Shimodaira, International Journal of Molecular Sciences, 23:12177, 2022年10月
• Genomics of Tumor Origin and Characteristics for Adenocarcinoma and Malignant Pleural Mesothelioma: A Case Report., Usuda K, Niida Y, Ishikawa M, Iwai S, Yamagata A, Iijima Y, Motono N, Yamada S, Uramoto H., Frontiers in onclogy, 12:858094, 2022年03月
• Establishment of a human induced pluripotent stem cell line, KMUGMCi005-A, from a patient with Epidermodysplasia verruciformis (EV) bearing homozygous splicing donor site mutation in the TMC8 gene., Ura H, Togi S, Hatanaka H, Niida Y., Stem Cell Res., 64:　, 2022年09月
• 結節性硬化症, 新井田 要, 周産期医学, 52:773, 2022年05月
• 結節性硬化症と腎腫瘍, 新井田 要, 泌尿器外科, 35:313, 2022年09月
• 結節性硬化症の遺伝カウンセリングと遺伝学的検査．, 新井田 要, 皮膚病診療, 44:957, 2022年11月
• Rapidly progressive kidney dysfunction and crystal casts associated with adenine phosphoribosyltransferase (APRT) deficiency-lessons for the clinical nephrologist, Keita Yamazaki , Katsuhito Miyazawa , Yo Nida , Kengo Furuichi , Hitoshi Yokoyama, Journal of nephrology, 34:2147-2149, 2021年12月
• The differential expression of perilipin-2 in hepatoblastoma and its association with prognosis, Sadafumi Azukisawa, Jianbo zheng, Xin Guo, Hiroki Ura, Yo Niida, Tohru Itoh, Sohsuke Yamada, Histology and Histopathology, 36:1169-1178, 2021年12月
• Molecular Bases of Human Malformation Syndromes Involving the SHH Pathway: GLIA/R Balance and Cardinal Phenotypes, Niida Y, Togi S, Ura H, International Journal of Molecular Sciences, 22:13060, 2021年12月
  DOI:https://doi.org/10.3390/ijms222313060
• Target-capture full-length double-strand cDNA sequencing for alternative splicing analysis, Ura H, Togi S, Niida Y, RNA Biology, 18:1600-1607, 2021年01月
• Optimization and Validation of Multimodular, Long-Range PCR-Based Next-Generation Sequencing Assays for Comprehensive Detection of Mutation in Tuberous Sclerosis Complex, Togi S, Ura H, Niida Y, The Journal of Molecular Diagnostics, 23:424-446, 2021年04月
  DOI:https://doi.org/10.1016/j.jmoldx.2020.12.009
• Targeted Double-Stranded cDNA Sequencing-Based Phase Analysis to Identify Compound Heterozygous Mutations and Differential Allelic Expression, Ura H, Togi S, Niida Y, Biology, 10:256, 2021年02月
  DOI:https://doi.org/10.3390/biology10040256
• Application of Combined Long Amplicon Sequencing (CoLAS) for Genetic Analysis of Neurofibromatosis Type 1: A Pilot Study, Togi S, Ura H, Niida Y, Current Issues in Molecular Biology, 43:782-801, 2021年07月
  DOI:https://doi.org/10.3390/cimb43020057
• A mosaic mutation of phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX) in X-linked hypophosphatemic rickets with mild bone phenotypes., (Shoko Asano), Saori Sako, Yuka Funasaki, Yumie Takeshita, Yo Niida, Toshinari Takamura, Endocrine Journal, 68:1, 2021年09月
• Resolution of multifocal micronodular pneumocyte hyperplasia with everolimus in a patient with tuberous sclerosis complex., (Shoji T), Niida Y, Osawa T, Matsumoto R, Sakurai K, Suzuki M, Matsuno Y, Konno S., Respir Med Case Rep., 34:101526, 2021年10月
• Intensive surveillance endoscopy for multiple gastrointestinal tumors in a patient with constitutional mismatch repair deficiency: case report., (Ando T), Nakajima T, Fukuda R, Nomura K, Niida Y, Sakumura M, Motoo I, Mihara H, Nanjo S, Kajiura S, Fujinami H, Hojo S, Fujii T, Yasuda I, BMC Gastroenterol., 21:326, 2021年08月
• 強膜化角膜と内耳奇形を合併した22q11.2欠失症候群の１例, (石丸美保), 中島瑞季, 野島俊二, 瀧口哲也, 長田　敦, 酒詰 忍, 新井田要, 石川産科婦人科学会雑誌, 10:1, 2021年12月
• 小児神経疾患の出生前診断の適用と限界, 新井田要, 脳と発達, 53:369-374, 2021年09月
• 臨床経過がめずらしい遺伝性要因が強い家族性甲状腺癌, 下出祐造, 北村守正, 辻　裕之, 新井田要, JOHNS, 36:1545-1549, 2020年11月
• Remarkable effect of Atezolizumab in advanced non-small cell lung cancer with PD-L1 negative but genome instability is increased: case report, Nozomu Motono, Yo Niida, Sohsuke Yamada, Hidetaka Uramoto, Clinical Oncology Case Reports, 3:2-4, 2020年05月
• Higher Tumor Mutation Burden and Higher PD-L1 Activity Predicts the Efficacy of Immune Checkpoint Inhibitor Treatment in a Patient With Four Lung Cancers. A Case Report, Usuda, Katsuo;Niida, Yo;Iwai, Shun;Funasaki, Aika;Sekimura, Atsushi;Motono, Nozomu;Yamada, Sohsuke;Uramoto, Hidetaka, FRONTIERS IN ONCOLOGY, 10:689, 2020年06月
  DOI:10.3389/fonc.2020.00689
• Prenatal diagnosis facilitated prompt enzyme replacement therapy for prenatal benign hypophosphatasia, (Ishijima Yuka), Iizuka Takashi, Kagami Kyosuke, Masumoto Sakiko, Nakade Kyohei, Mitani Yusuke, Niida Yo, Watanabe Atsushi, Yamazaki Rena, Ono Masanori, Fujiwara Hiroshi, Journal of Obstetrics and Gynaecology, 40:132-134, 2020年01月
  DOI:10.1080/01443615.2019.1606177
• Two autopsy cases of sudden unexpected death from Dravet syndrome with novel de novo SCN1A variants, (Hata Yukiko), Oku Yuko, Taneichi Hiromichi, Tanaka Tomomi, Igarashi Noboru, Niida Yo, Nishida Naoki, Brain & development, 42:171-178, 2020年02月
  DOI:10.1016/j.braindev.2019.10.005
• Dual Deep Sequencing Improves the Accuracy of Low-Frequency Somatic Mutation Detection in Cancer Gene Panel Testing, Hiroki Ura, Sumihito Togi, Yo Niida, International Journal of Molecular Sciences, 21:3530, 2020年05月
• Squamous cell carcinoma-like ungual fibroma as early diagnostic indicators of tuberous sclerosis complex in an elderly patient, (Kae Yokoyama), Yo Niida, Takaharu Ikeda, Kazuo Takahashi, Tamihiro Kawakami, Journal of Cutaneous Immunology and Allergy, 3:111-112, 2020年10月
• 結節性硬化症の遺伝子診断, 新井田要, Urology Today, 27:118-122, 2020年
• B-cell-specific accumulation of inclusion bodies loaded with HLA class II molecules in patients with mucolipidosis II (I-cell disease), (Yokoi Ayano), Niida Yo, Kuroda Mondo, Imi-Hashida Yoko, Toma Tomoko, Yachie Akihiro, Pediatric research, 86:85-91, 2019年07月
  DOI:10.1038/s41390-018-0234-2
• 【甲状腺・副甲状腺-知りたいこと知っておかねばならないこと】RET遺伝子と甲状腺疾患, 下出祐造, 辻　裕之, 新井田要, JOHNS, 35:663-666, 2019年06月
• A novel PHEX mutation associated with vitamin D-resistant rickets., (Sako Saori), Niida Yo, Shima Kosuke Robert, Takeshita Yumie, Ishii Kiyo-Aki, Takamura Toshinari, Human Genome Variation, 6:9, 2019年02月
• Familial multifocal micronodular pneumocyte hyperplasia with a novel splicing mutation in TSC1: Three cases in one family, (Shoji Tetsuaki), Konno Satoshi, Niida Yo, Ogi Takahiro, Suzuki Masaru, Shimizu Kaoruko, Hida Yasuhiro, Kaga Kichizo, Seyama Kuniaki, Naka Tomoaki, Matsuno Yoshihiro, Nishimura Masaharu, PLOS ONE, 14:e0212370, 2019年02月
  DOI:10.1371/journal.pone.0212370
• Spinal muscular atrophy with respiratory distress type 1 associated with novel compound heterozygous mutations in IGHMBP2: Differential diagnosis in a case with congenital diaphragm eventration, Yasui Yoshitomo, Sato Hitoshi, Niida Yo, Kohno Miyuki, Congenital anomalies, 59:22-23, 2019年01月
  DOI:10.1111/cga.12280
• k大学病院における赤ちゃん体操教室の運用の見直し　アンケート調査の結果, 和田　都, 高瀬悦子, 竹下幸子, 新井田要, 日本ダウン症療育研究, 12:6, 2019年01月
• k大学病院における赤ちゃん体操教室の見直し(第2報)　合併症の有無と医学的管理の実態について, 高瀬悦子, 和田　都, 竹下幸子, 新井田要, 日本ダウン症療育研究, 12:30, 2019年01月
• Autopsy case of right ventricular rhabdomyoma in tuberous sclerosis complex, (Kondo Takeshi), Niida Yo, Mizuguchi Masashi, Nagasaki Yasushi, Ueno Yasuhiro, Nishimura Akiyoshi, Legal medicine, 36:37-40, 2019年
  DOI:10.1016/j.legalmed.2018.10.001
• 小児神経科医が知っておくべき遺伝学的検査シリーズ　精神運動発達退行を示した3歳女児, 新井田要, 脳と発達, 50:409-411, 2018年11月
• 遺伝医学からゲノム医学への展開　先天性疾患から学ぶヒトゲノムの解剖(構造)と生理(機能), 新井田要, 金沢医科大学雑誌, 43:23, 2018年06月
• 金沢医科大学病院における「赤ちゃん体操教室」の運用の見直し　～アンケート調査の結果から～, 高瀬悦子, 和田　都, 竹下幸子, 新井田要, 小児保健いしかわ, 30:6-10, 2018年03月
• Diffusion tensor imaging and magnetic resonance spectroscopy in a patient with adult onset tuberous sclerosis complex, Ishikawa, Hidehiro;Niwa, Atsushi;Asahi, Masaru;Matsuura, Keita;Masuzugawa, Satoshi;Niida, Yo;Maeda, Masayuki;Kondo, Mineo;Tomimoto, Hidekazu, JOURNAL OF CLINICAL NEUROSCIENCE, 48:108-110, 2018年02月
  DOI:10.1016/j.jocn.2017.10.072
• Human Malformation Syndromes of Defective GLI: Opposite Phenotypes of 2q14.2 (GLI2) and 7p14.2 (GLI3) Microdeletions and a GLIA/R Balance Model., Y. Niida, M. Inoue, M. Ozaki, E Takase, Cytogenetic and Genome Research, 153:56-65, 2018年01月
  DOI:10.1159/000485227
• Classification of Uniparental Isodisomy Patterns That Cause Autosomal Recessive Disorders: Proposed Mechanisms of Different Proportions and Parental Origin in Each Pattern, Niida, Yo;Ozaki, Mamoru;Shimizu, Masaki;Ueno, Kazuyuki;Tanaka, Tomomi, CYTOGENETIC AND GENOME RESEARCH, 154:137-146, 2018年
  DOI:10.1159/000488572
• 診療連携における遺伝科（遺伝診療部）の役割　～遺伝性出血性末梢血管拡張症（オスラー病）の事例を通じて考える～, 新井田 要, 日本鼻科学会会誌, 57:106-106, 2018年
  DOI:10.7248/jjrhi.57.106
• Clinical and molecular investigation of 14 Japanese patients with complete TFP deficiency: a comparison with Caucasian cases, Bo, Ryosuke;Yamada, Kenji;Kobayashi, Hironori;Jamiyan, Purevsuren;Hasegawa, Yuki;Taketani, Takeshi;Fukuda, Seiji;Hata, Ikue;Niida, Yo;Shigematsu, Yosuke;Iijima, Kazumoto;Yamaguchi, Seiji, JOURNAL OF HUMAN GENETICS, 62:809-814, 2017年09月
  DOI:10.1038/jhg.2017.52
• Rituximab投与を行った抗NMDA受容体脳炎の2歳女児例, (中川裕康), 横井彩乃, 三谷裕介, 黒田文人, 谷内江昭宏, 新井田要, 宮　一志, 脳と発達, 49:344-346, 2017年09月
• A Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome with a KAT6B 10-base pair palindromic duplication: A recurrent mutation causing a severe phenotype mixed with genitopatellar syndrome, Niida, Yo;Mitani, Yusuke;Kuroda, Mondo;Yokoi, Ayano;Nakagawa, Hiroyasu;Kato, Akiko, CONGENITAL ANOMALIES, 57:86-88, 2017年05月
  DOI:10.1111/cga.12196
• Reply to: Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1, Niida, Yo;Yokoi, Ayano;Kuroda, Mondo;Mitani, Yusuke;Nakagawa, Hiroyasu;Ozaki, Mamoru, BRAIN & DEVELOPMENT, 39:184-185, 2017年02月
  DOI:10.1016/j.braindev.2016.08.009
• A型インフルエンザ罹患後の急激な退行を契機に異染性白質ジストロフィー症の診断に至った2例, (秋本智史), 山田啓迪, 高橋里奈, 原　聡, 中澤友幸, 大日方薫, 新井田要, 大橋十也, 清水俊明, 小児科, 58:203-207, 2017年02月
• Cartilage-hair hypoplasia associated with isolated hypoganglionosis: A case report, Y.Yasui,M.Kohno,S.Nishida,T.Shironomae,M.Satomi, T.Kuwahara, S.Takahashi, Y.Niida, CONGENITAL ANOMALIES, 57:32-34, 2017年01月
  DOI:10.1111/cga.12175
• 出産直後からの育児支援システムについて、赤ちゃん体操教室への紹介経路から考える, 高瀬悦子, 田辺光子, 石田美幸, 和田　都, 竹下幸子, 新井田要, 日本ダウン症療育研究, 10:9-14, 2017年01月
• 新規PHEX遺伝子変異によるX連鎖性低リン血症性くる病, （木谷佐央理）, 島　孝佑, 竹下有美枝, 御簾博文, 新井田要, 篁　俊成, 日本内分泌学会雑誌, 92:65-67, 2016年07月
• A girl with infantile neuronal ceroid lipofuscinosis caused by novel PPT1 mutation and paternal uniparental isodisomy of chromosome 1., Y.Niida, A.Yokoi, M.Kuroda, Y.Mitani, H.Nakagawa, M.Ozaki, Brain & development, 38:674-677, 2016年
  DOI:10.1016/j.braindev.2016.01.004
• A novel frameshift mutation in the TRPS1 gene caused Tricho-rhino-phalangeal syndrome type I and III in a Japanese family., Itoh Masatsune;Kittaka Yuko;Niida Yo;Saikawa Yutaka, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology, 25:115-118, 2016年
  DOI:10.1297/cpe.25.115
• Angelman Syndrome Caused by Chromosomal Rearrangements: A Case Report of 46,XX,+der(13)t(13;15)(q14.1;q12)mat,-15 with an Atypical Phenotype and Review of the Literature, Y.Niida, H.Sato, M.Ozaki, M.Itoh, K.Ikeno, E.Takase, Cytogenetic and genome research, 149:247-257, 2016年
• Oxytocin for male subjects with autism spectrum disorder and comorbid intellectual disabilities: A randomized pilot study, (T.Munesue), H.Nakamura, M.Kikuchi, Y.Miura, N.Takeuchi, T.Anme, E.Nanba, K.Adachi, K.Tsubouchi, Y.Sai, K.Miyamoto, S.Horike, S.Yokoyama, H.Nakatani, Y.Niida, H.Kosaka, Y.Minabe, H.Higashida, Frontiers in psychiatry, 7:1-11, 2016年
  DOI:10.3389/fpsyt.2016.00002
• 母乳中ダイオキシン濃度の国際比較　ベトナムと日本を中心に, 西条旨子, Tran Ngoc Nghi, 山口直孝, 大阪康宏, 閨谷奈津子, 藤田智子, 高木弘明, 笹川寿之, 新井田 要, 西条寿夫, 金沢医科大学雑誌, 40:207-207, 2015年12月
• CHIPS for a mutation screening of a large sized gene: An example of NF1 analysis, Y.Niida, Pharmaceutia Analytica Acta, 6:440-440, 2015年11月
  DOI:10.4172/2153-2435.1000440
• Radiological diagnosis of a neonate with mucolipidosis II (I-cell disease), Y.Niida, Clinical Medical Image Library, 1:17-18, 2015年11月
• A girl with greig cephalopolysyndactyly contiguous gene deletion syndrome: The importance and usefulness of DNA microarray analysis, Y.Niida, M.Ozaki, E.Takase, T.Yokoyama, S.Yamada, Hereditary Genetics, S7:1-3, 2015年10月
  DOI:10.4172/2161-1041.S7-004
• Finding gene mutations by the enzyme: Chips for a simple and highly sensitive enzyme mismatch cleavage method, Y.Niida, Enzyme Engineering, 4:131-131, 2015年10月
  DOI:10.4172/2329-6674.1000131
• CHIPS to disseminate the genetic testing of rare diseases, Y.Niida, Gene Technology, 4:127-127, 2015年09月
  DOI:10.4172/2329-6682.1000127
• How do you analyze a mutation of the gene consisting of one hundred exons?, Y.Niida, Advanced Techniques in Biology & Medicine, 3:138-138, 2015年09月
  DOI:10.4172/2379-1764.1000138
• 遺伝医療の一般診療化に向けて, 新井田要, 石川医報, 1595:30-33, 2015年09月
• CHIPS for genetic testing to improve a regional clinical genetic service, Y.Niida, O.Ozaki, M.Inoue, E.Takase, M.Kuroda, Y.Mitani, A.Okumura, A.Yokoi, S.Fujita, K.Yamada, Clinical Genetics, 88:155-160, 2015年08月
  DOI:10.1111/cge.12463
• Development of a practical NF1 genetic testing method through the pilot analysis of five Japanese families with neurofibromatosis type 1., (A.Okumura), M.Ozaki, Y.Niida, Brain & Development, 37:677-689, 2015年08月
  DOI:10.1016/j.braindev.2014.11.002
• Family with MSH2 mutation presenting with keratoacanthoma and precancerous skin lesions, (N.Hatta), A.Takata, S.Ishizawa, Y.Niida, Journal of Dermatology, 42:1087-1090, 2015年
  DOI:10.1111/1346-8138.12949
• Serum tau protein as a marker of disease activity in enterohemorrhagic Escherichia coli O111-induced hemolytic uremic syndrome, (M.Kuroda), M.Shimizu, N.Inoue, I.Ikeno, H.Nakagawa, A.Yokoi, Y.Niida, M.Konishi, H.Kaneda, N.Igarashi, J.Yamahana, H.Taneichi, H.Kanegane, M.Ito, S.Saito, K.Furuichi, T.Wada, M.Nakagawa, H.Yokoyama, A.Yachie, Neurochemistry International, 85-86:24-30, 2015年
  DOI:10.1016/j.neuint.2015.04.003
• 遺伝子変異スクリーニング法CHIPSの開発と臨床応用, 新井田要, 金沢医科大学雑誌, 40:84-91, 2015年
• PRKAR1A遺伝子変異を認めたホルモン抵抗性を伴うAcrodysostosisの男児例, (仲岡英幸), 五十嵐登, 山口由美, 塩穴真一, 東山弘幸, 藤田修平, 二谷　武, 畑崎喜芳, 新井田要, 小児科臨床, 67:1058-1063, 2014年06月
• An infant with recurrent convulsive seizures of 3 weeks duration: Questions, (Shimizu, Masaki);Niida, Yo;Koizumi, Shoichi;Yachie, Akihiro, PEDIATRIC NEPHROLOGY, 29:1951-1955, 2014年01月
  DOI:10.1007/s00467-013-2615-4
• Intermittent X-Linked Thrombocytopenia With a Novel WAS Gene Mutation, (Wada, Taizo);Itoh, Masatsune;Maeba, Hideaki;Toma, Tomoko;Niida, Yo;Saikawa, Yutaka;Yachie, Akihiro, PEDIATRIC BLOOD & CANCER, 61:746-748, 2014年01月
  DOI:10.1002/pbc.24787
• 小児神経科医からみた子どもの高次脳機能診察へのアプローチ　-科学的に診る目、子どもを診る目-, 新井田要, 子どものこころと脳の発達, 4:19-29, 2013年12月
• 重症心身障害児（者）における経腸栄養剤と抗てんかん薬による低カルニチン血症発症の検討, (脇坂　晃子), 新井田　要, 山田　晋也, 辻　隆範, 中村　奈美, 丸箸　圭子, 大野　一郎, 関　秀俊, 脳と発達, 45:445-450, 2013年11月
• 頭部・顔面・口腔の形態異常と遺伝性疾患, 新井田要, 日本口腔顎顔面技工研究会会誌, 13:7-12, 2013年10月
• 水疱形成を伴った遺伝性血管性浮腫の1例, 小島清登, 藤井俊樹, 西部明子, 望月　隆, 新井田要, 皮膚の科学, 12:190‐194, 2013年06月
• Mutational analysis of TSC1 and TSC2 in Japanese patients with tuberous sclerosis complex revealed higher incidence of TSC1 patients than previously reported., Y.Niida, A.Wakisaka, T.Tsuji, H.Yamada, M.Kuroda, Y.Mitani, A.Okumura, A.Yokoi, Journal of human genetics., 58:216-225, 2013年04月
• Adult-onset renal failure in a family with Alagille syndrome with proteinuria and a novel JAG1 mutation., N.Hayashi, H.Okuyama, Y.Matsui, H.Yamaya, E.Kinoshita, H.Minato, Y.Niida, H.Yokoyama, Clinical kidney journal., 6:295-299, 2013年03月
• Anterior prefrontal hemodynamic connectivity in conscious 3- to 7-year-old children with typical development and autism spectrum disorder., (M.Kikuchi), Y.Yoshimura, K.Shitamichi, S.Ueno, H.Hiraishi, T.Minesue, T.Hirosawa, Y.Ono, T.Tsubokawa, Y.Inoue, M.Oi, Y.Niida, GB.Remijin, T.Takahashi, M.Suzuki, M.Higashida, Y.Minabe, PloS one, 8:e56087, 2013年02月
• Applying and testing the conveniently optimized enzyme mismatch cleavage method to clinical DNA diagnosis, Yo Niida, Mondo Kuroda, Yusuke Mitani, Akiko Okumura, Ayano Yokoi, Molecular Genetics and Metabolism, 107:580-585, 2012年
• A Case of Von Hippel-Lindau Disease With Recurrence of Paraganglioma and No Other Associated Symptoms: The Importance of Genetic Testing and Establishing Follow-Up Policies, Naoki Okada, Akihiro Shioya, Sumihito Togi, Hiroki Ura, Yo Niida, Cureus, 15:e50484, 2023年12月
• Schimmelpenning-Feuerstein-Mims syndrome induced by HRAS Gly12Ser somatic mosaic mutation: Case report and literature review, Hiroto Ono, Reimon Yamaguchi, Minako Arai, Sumihito Togi, Hiroki Ura, Yo Niida, Akira Shimizu, The Journal of Dermatology, 50:1213-1215, 2023年
• An optimized cocktail of small molecule inhibitors promotes the maturation of dendritic cells in GM-CSF mouse bone marrow culture., Shintaro Matsuba, Hiroki Ura, Fumiji Saito, Chie Ogasawara, Shigetaka Shimodaira, Yo Niida, Nobuyuki Onai, Frontiers in Immunology, 14:1264609, 2023年10月
• Clinical Trial on the Safety and Tolerability of Personalized Cancer Vaccines Using Human Platelet Lysate-Induced Antigen-Presenting Cells, Terutsugu Koya, Kenichi Yoshida, Misa Togi, Yo Niida, Sumihito Togi, Hiroki Ura, Shuichi Mizuta, Tomohisa Kato Jr, Sohsuke Yamada, Takeo Shibata, Yi-Chang Liu, Shyng-Shiou Yuan, Deng-Chyang Wu, Hirohito Kobayashi, Taiju Utsugisawa, Hitoshi Kanno, Shigetaka Shimodaira, Cancers, 15:3627, 2023年07月
• Recessive dystrophic epidermolysis bullosa caused by a novel COL7A1 variant with isodisomy., Niida Y, Kobayashi A, Togi S, Ura H., Hum Genome Var., 10:29, 2023年10月
• Target-capture full-length double-stranded cDNA long-read sequencing through Nanopore revealed novel intron retention in patient with tuberous sclerosis complex., Ura H, Togi S, Niida Y., Front Genet., 14:1256064, 2023年09月
• Clinical Practice Guidelines for tuberous sclerosis complex-associated renal angiomyolipoma by the Japanese Urological Association: Summary of the update., Osawa T, Oya M, Okanishi T, Kuwatsuru R, Kawano H, Tomita Y, Niida Y, Nonomura N, Hatano T, Fujii Y, Mizuguchi M, Shinohara N., Int J Urol., 30:808-817, 2023年10月
• Establishment of human induced pluripotent stem cell lines, KMUGMCi006, from a patient with Tuberous sclerosis complex (TSC) bearing mosaic nonsense mutations in the Tuberous sclerosis complex 2 (TSC2) gene., Ura H, Togi S, Ozaki M, Hatanaka H, Niida Y., Stem Cell Res., 70:103129, 2023年08月
• Streamlining Genetic Diagnosis With Long-Range Polymerase Chain Reaction (PCR)-Based Next-Generation Sequencing for Type I and Type II Collagenopathies., Niida Y, Togi S, Ura H., Cureus, 15:e50482, 2023年12月
• 結節性硬化症の遺伝カウンセリングと遺伝学的検査, 新井田　要, 日本小児皮膚科学会雑誌, 42:95-103, 2023年06月
• 遺伝性出血性毛細血管拡張症（オスラー病）の遺伝カウンセリングと遺伝学的検査, 新井田　要, 日本鼻科学会雑誌, 62:1-3, 2023年06月
• WRN遺伝子に新規変異を認めたWerner症候群の1例, 藤井　皓，八田尚人，石井貴之，新井田　要, 皮膚科の臨牀, 65:1130-1134, 2023年07月
• A rare case of 1q31.1-q32.1 deletion with congenital heart disease., Takarada S, Yoshimura N, Yo N, Hirono K., J Cardiol Cases., 28:7-10, 2023年03月
• Establishment of a human induced pluripotent stem cell line, KMUGMCi007-A, from a patient with prolidase deficiency (PD) bearing homozygous in-frame mutation in the PEPD gene., Ura H, Togi S, Ozaki M, Hatanaka H, Niida Y., Stem Cell Res., 69:103075, 2023年06月
• Negative correlation between organ heteroplasmy, particularly hepatic heteroplasmy, and age at death revealed by post-mortem studies of m.3243A > G cases, Kunimasa Yagi, Satoko Okazaki, Azusa Ohbatake, Masako Nakaya, Jianhui Liu, Eiko Arite, Yukiko Miyamoto, Naoko Ito, Kaoru Nakano, Naoto Yamaaki, Hisae Honoki, Shiho Fujisaka, Daisuke Chujob, Shin-ichiro Tsunoda, Kunio Yanagimoto, Tsuyoshi Nozue, Masayo Yamada, Kotaro Ooe, Tsutomu Araki, Akikatsu Nakashima, Yasushi Azami, Yukio Sodemoto, Kenichi Tadokoro, Makoto Nagano, Tohru Noguchi, Atushi Nohara, Hideki Origasa, Yo Niida, Hayato Tada, Molecular Genetics and Metabolism, 140:107691, 2023年11月
• Investigation of a novel PROS1 splicing variant in a patient with protein S deficiency, Niida Y, Fujita W, Togi S, Ura H., Human Genome Variation, 11:28, 2024年07月
  DOI:10.1038/s41439-024-00286-9
• Comparison of RNA-Sequencing Methods for Degraded RNA, Ura H, Niida Y., International Journal of Molecular Sciences, 25:6143, 2024年06月
  DOI:10.3390/ijms25116143.
• A case of SCN8A-related developmental epileptic encephalopathy diagnosed by clinical speculation driven targeted DNA sequencing and remission of epilepsy by sodium channel blockers combination therapy, Yoshitaka Mitsui, Hitoshi Sato, Sumihito Togi, Hiroki Ura, Yo Niida, Brain and Development Case Reports, 2:100015, 2024年06月
• Integrated Analysis of Somatic DNA Variants and DNA Methylation of Tumor Suppressor Genes in Colorectal Cancer, Hisashi Nishiki, Hiroki Ura, Sumihito Togi, Hisayo Hatanaka, Hideto Fujita, Hiroyuki Takamura, Yo Niida, International Journal of Molecular Sciences, 26:1642, 2025年02月
  DOI:10.3390/ijms26041642
• Computational Comparison of Differential Splicing Tools for Targeted RNA Long-Amplicon Sequencing (rLAS)., Ura H, Hatanaka H, Togi S, Niida Y., Int J Mol Sci, 26:3220-3220, 2025年03月
  DOI:10.3390/ijms26073220.
• Importance of EQA/PT for the detection of genetic variants in comprehensive cancer genome testing., "Matsushita K, Ishige T, Watanabe K, Akahane T, Tanimoto A, Yoshimoto M, Yamakuchi M, Hashiguchi T, Okugawa Y, Ikejiri M, Yamaguchi T, Yamasaki T, Takeda M, Hibi M, Akiyama N, Shimizu K, Hashimoto N, Sato H, Tanaka Y, Amari F; Niida Y as membere of EQA working group of Japan Association for Clinical Laboratory Science(JACLS)(Kazuyuki Matsushita, Kaname Nakatani, Shuji Tohda, Teruto Hashiguchi, Yoshinaga Okugawa, Satoko Nakajo, Mayu Takeda, Toshikazu Yamaguchi, Michiko Yoshimoto, Masaaki Hibi, Yo Niida, Hirotaka Matsui & Takayuki Ishige)", Sci Rep., 15:1036-1036, 2025年01月
  DOI:10.1038/s41598-024-84714-4
• Clinical and Molecular Genetic Analyses of a Girl With Isolated Nephrogenic Diabetes Insipidus due to Contiguous Gene Deletion Involving AVPR2 and L1CAM., Saito S, Suzuki S, Izumi K, Kamiyama T, Saito K, Yamamura H, Kokumai T, Furuya A, Taketazu G, Makita Y, Niida Y, Takahashi S., Am J Med Genet A, 197:e64026-e64026, 2025年02月
  DOI:10.1002/ajmg.a.64024.
• Two autopsy cases of sudden unexpected death from Dravet syndrome with novel de novo SCN1A variants, Hata, Yukiko;Oku, Yuko;Taneichi, Hiromichi;Tanaka, Tomomi;Igarashi, Noboru;Niida, Yo;Nishida, Naoki, BRAIN & DEVELOPMENT, 42:171-178, 2020年02月
  DOI:10.1016/j.braindev.2019.10.005
• Dual Deep Sequencing Improves the Accuracy of Low-Frequency Somatic Mutation Detection in Cancer Gene Panel Testing, Ura, Hiroki;Togi, Sumihito;Niida, Yo, INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 21, 2020年05月
  DOI:10.3390/ijms21103530
• A mosaic mutation of phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX) in X-linked hypophosphatemic rickets with mild bone phenotypes, Asano Shoko;Sako Saori;Funasaki Yuka;Takeshita Yumie;Niida Yo;Takamura Toshinari, Endocrine Journal, 68:1135-1141, 2021年
  DOI:10.1507/endocrj.EJ20-0809
• 小児神経疾患の出生前診断の適用と限界, 新井田 要, 脳と発達, 53:369-374, 2021年
  DOI:10.11251/ojjscn.53.369
• Dual Deep Sequencing Improves the Accuracy of Low-Frequency Somatic Mutation Detection in Cancer Gene Panel Testing., Ura Hiroki;Togi Sumihito;Niida Yo, International journal of molecular sciences, 21, 2020年
  DOI:10.3390/ijms21103530
• Higher Tumor Mutation Burden and Higher PD-L1 Activity Predicts the Efficacy of Immune Checkpoint Inhibitor Treatment in a Patient With Four Lung Cancers. A Case Report., Usuda Katsuo;Niida Yo;Iwai Shun;Funasaki Aika;Sekimura Atsushi;Motono Nozomu;Yamada Sohsuke;Uramoto Hidetaka, Frontiers in oncology, 10, 2020年
  DOI:10.3389/fonc.2020.00689
• Target-capture full-length double-strand cDNA sequencing for alternative splicing analysis., Ura Hiroki;Togi Sumihito;Niida Yo, RNA biology, 18, 2021年
  DOI:10.1080/15476286.2021.1872961
• Optimization and Validation of Multimodular, Long-Range PCR-Based Next-Generation Sequencing Assays for Comprehensive Detection of Mutation in Tuberous Sclerosis Complex., Togi Sumihito;Ura Hiroki;Niida Yo, The Journal of molecular diagnostics : JMD, 23, 2021年
  DOI:10.1016/j.jmoldx.2020.12.009
• Targeted Double-Stranded cDNA Sequencing-Based Phase Analysis to Identify Compound Heterozygous Mutations and Differential Allelic Expression., Ura Hiroki;Togi Sumihito;Niida Yo, Biology, 10, 2021年
  DOI:10.3390/biology10040256
• Intensive surveillance endoscopy for multiple gastrointestinal tumors in a patient with constitutional mismatch repair deficiency: case report., Ando Takayuki;Nakajima Takahiko;Fukuda Rei;Nomura Keiko;Niida Yo;Sakumura Miho;Motoo Iori;Mihara Hiroshi;Nanjo Sohachi;Kajiura Shinya;Fujinami Haruka;Hojo Shojo;Fujii Tsutomu;Yasuda Ichiro, BMC gastroenterology, 21, 2021年
  DOI:10.1186/s12876-021-01902-6
• Application of Combined Long Amplicon Sequencing (CoLAS) for Genetic Analysis of Neurofibromatosis Type 1: A Pilot Study., Togi Sumihito;Ura Hiroki;Niida Yo, Current issues in molecular biology, 43, 2021年
  DOI:10.3390/cimb43020057
• The differential expression of perilipin-2 in hepatoblastoma and its association with prognosis., Azukisawa Sadafumi;Zheng Jianbo;Guo Xin;Ura Hiroki;Niida Yo;Itoh Tohru;Yamada Sohsuke, Histology and histopathology, 36, 2021年
  DOI:10.14670/HH-18-371
• Resolution of multifocal micronodular pneumocyte hyperplasia with everolimus in a patient with tuberous sclerosis complex., Shoji Tetsuaki;Niida Yo;Osawa Takahiro;Matsumoto Ryuji;Sakurai Kotaro;Suzuki Masaru;Matsuno Yoshihiro;Konno Satoshi, Respiratory medicine case reports, 34, 2021年
  DOI:10.1016/j.rmcr.2021.101526
• TSC2 somatic mosaic mutation, including extra-tumor tissue, may be the developmental cause of solitary subependymal giant cell astrocytoma., Sasaki Tsuyoshi;Uda Takehiro;Kuki Ichiro;Kunihiro Noritsugu;Okazaki Shin;Niida Yo;Goto Takeo, Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, 38, 2021年
  DOI:10.1007/s00381-021-05399-y
• Molecular Bases of Human Malformation Syndromes Involving the SHH Pathway: GLIA/R Balance and Cardinal Phenotypes., Niida Yo;Togi Sumihito;Ura Hiroki, International journal of molecular sciences, 22, 2021年
  DOI:10.3390/ijms222313060
• A mosaic mutation of phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX) in X-linked hypophosphatemic rickets with mild bone phenotypes., Asano Shoko;Sako Saori;Funasaki Yuka;Takeshita Yumie;Niida Yo;Takamura Toshinari, Endocrine journal, 68, 2021年
  DOI:10.1507/endocrj.EJ20-0809
• Serum tau protein as a marker of disease activity in enterohemorrhagic Escherichia coli O111-induced hemolytic uremic syndrome., Kuroda Mondo;Shimizu Masaki;Inoue Natsumi;Ikeno Iku;Nakagawa Hiroyasu;Yokoi Ayano;Niida Yo;Konishi Michio;Kaneda Hisashi;Igarashi Noboru;Yamahana Junya;Taneichi Hiromichi;Kanegane Hirokazu;Ito Mika;Saito Shigeru;Furuichi Kengo;Wada Takashi;Nakagawa Masaru;Yokoyama Hitoshi;Yachie Akihiro, Neurochemistry international, 85-86, 2015年
  DOI:10.1016/j.neuint.2015.04.003
• Family with MSH2 mutation presenting with keratoacanthoma and precancerous skin lesions., Hatta Naohito;Takata Akiko;Ishizawa Shin;Niida Yo, The Journal of dermatology, 42, 2015年
  DOI:10.1111/1346-8138.12949
• Cartilage-hair hypoplasia associated with isolated hypoganglionosis: A case report., Yasui Yoshitomo;Kohno Miyuki;Nishida Syouichi;Shironomae Tsubasa;Satomi Miwa;Kuwahara Tsuyoshi;Takahashi Sadayoshi;Niida Yo, Congenital anomalies, 57, 2017年
  DOI:10.1111/cga.12175
• Reply to: Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1., Niida Yo;Yokoi Ayano;Kuroda Mondo;Mitani Yusuke;Nakagawa Hiroyasu;Ozaki Mamoru, Brain & development, 39, 2017年
  DOI:10.1016/j.braindev.2016.08.009
• A Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome with a KAT6B 10-base pair palindromic duplication: A recurrent mutation causing a severe phenotype mixed with genitopatellar syndrome., Niida Yo;Mitani Yusuke;Kuroda Mondo;Yokoi Ayano;Nakagawa Hiroyasu;Kato Akiko, Congenital anomalies, 57, 2017年
  DOI:10.1111/cga.12196
• Human Malformation Syndromes of Defective GLI: Opposite Phenotypes of 2q14.2 (GLI2) and 7p14.2 (GLI3) Microdeletions and a GLIA/R Balance Model., Niida Yo;Inoue Mika;Ozaki Mamoru;Takase Etsuko, Cytogenetic and genome research, 153, 2017年
  DOI:10.1159/000485227
• B-cell-specific accumulation of inclusion bodies loaded with HLA class II molecules in patients with mucolipidosis II (I-cell disease)., Yokoi Ayano;Niida Yo;Kuroda Mondo;Imi-Hashida Yoko;Toma Tomoko;Yachie Akihiro, Pediatric research, 86, 2019年
  DOI:10.1038/s41390-018-0234-2
• A novel PHEX mutation associated with vitamin D-resistant rickets., Sako Saori;Niida Yo;Shima Kosuke Robert;Takeshita Yumie;Ishii Kiyo-Aki;Takamura Toshinari, Human genome variation, 6, 2019年
  DOI:10.1038/s41439-019-0040-3
• Familial multifocal micronodular pneumocyte hyperplasia with a novel splicing mutation in TSC1: Three cases in one family., Shoji Tetsuaki;Konno Satoshi;Niida Yo;Ogi Takahiro;Suzuki Masaru;Shimizu Kaoruko;Hida Yasuhiro;Kaga Kichizo;Seyama Kuniaki;Naka Tomoaki;Matsuno Yoshihiro;Nishimura Masaharu, PloS one, 14, 2019年
  DOI:10.1371/journal.pone.0212370
• CHIPS for genetic testing to improve a regional clinical genetic service., Niida Y;Ozaki M;Inoue M;Takase E;Kuroda M;Mitani Y;Okumura A;Yokoi A;Fujita S;Yamada K, Clinical genetics, 88, 2015年
  DOI:10.1111/cge.12463
• Development of a practical NF1 genetic testing method through the pilot analysis of five Japanese families with neurofibromatosis type 1., Okumura Akiko;Ozaki Mamoru;Niida Yo, Brain & development, 37, 2015年
  DOI:10.1016/j.braindev.2014.11.002
• Adult-onset renal failure in a family with Alagille syndrome with proteinuria and a novel JAG1 mutation., Hayashi Norifumi;Okuyama Hiroshi;Matsui Yuki;Yamaya Hideki;Kinoshita Eriko;Minato Hiroshi;Niida Yo;Yokoyama Hitoshi, Clinical kidney journal, 6, 2013年
  DOI:10.1093/ckj/sft027
• Establishment of a human induced pluripotent stem cell line, KMUGMCi001-A, from a patient bearing a heterozygous c.772 + 3_772 + 4dup mutation in the ACVRL1 gene leading Telangiectasia, hereditary hemorrhagic, type 2 (HHT2)., Ura Hiroki;Togi Sumihito;Iwata Yumiko;Ozaki Mamoru;Niida Yo, Stem cell research, 61, 2022年
  DOI:10.1016/j.scr.2022.102743
• Identification of ENPP1 Haploinsufficiency in Patients With Diffuse Idiopathic Skeletal Hyperostosis and Early-Onset Osteoporosis., Kato Hajime;Ansh Anenya J;Lester Ethan R;Kinoshita Yuka;Hidaka Naoko;Hoshino Yoshitomo;Koga Minae;Taniguchi Yuki;Uchida Taisuke;Yamaguchi Hideki;Niida Yo;Nakazato Masamitsu;Nangaku Masaomi;Makita Noriko;Takamura Toshinari;Saito Taku;Braddock Demetrios T;Ito Nobuaki, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research, 37, 2022年
  DOI:10.1002/jbmr.4550
• A comparison of mRNA sequencing (RNA-Seq) library preparation methods for transcriptome analysis., Ura Hiroki;Togi Sumihito;Niida Yo, BMC genomics, 23, 2022年
  DOI:10.1186/s12864-022-08543-3
• Novel PKD2 Missense Mutation p.Ile424Ser in an Individual with Multiple Hepatic Cysts: A Case Report., Miura Seiko;Niida Yo;Hashizume Chieko;Fujii Ai;Takagaki Yuta;Kusama Kahoru;Akazawa Sumiyo;Minami Tetsuya;Mukai Tsuyoshi;Furuichi Kengo;Tsuchishima Mutsumi;Ueda Nobuhiko;Takamura Hiroyuki;Koya Daisuke;Ito Tohru, Medicines (Basel, Switzerland), 9, 2022年
  DOI:10.3390/medicines9040025
• Genomics of Tumor Origin and Characteristics for Adenocarcinoma and Malignant Pleural Mesothelioma: A Case Report., Usuda Katsuo;Niida Yo;Ishikawa Masahito;Iwai Shun;Yamagata Aika;Iijima Yoshihito;Motono Nozomu;Yamada Sohsuke;Uramoto Hidetaka, Frontiers in oncology, 12, 2022年
  DOI:10.3389/fonc.2022.858094
• Poly(A) capture full length cDNA sequencing improves the accuracy and detection ability of transcript quantification and alternative splicing events., Ura Hiroki;Togi Sumihito;Niida Yo, Scientific reports, 12, 2022年
  DOI:10.1038/s41598-022-14902-7
• Establishment of a human induced pluripotent stem cell line, KMUGMCi002-A, from a patient bearing a heterozygous c.6362_6364del mutation in the NIPBL gene leading Cornelia de Lange syndrome (CdLS)., Ura Hiroki;Togi Sumihito;Iwata Yumiko;Ozaki Mamoru;Niida Yo, Stem cell research, 63, 2022年
  DOI:10.1016/j.scr.2022.102860
• Establishment of a human induced pluripotent stem cell line, KMUGMCi004-A, from a patient bearing a heterozygous c.1832delG mutation in the APC gene leading familial adenomatous polyposis (FAP)., Ura Hiroki;Togi Sumihito;Hatanaka Hisayo;Niida Yo, Stem cell research, 63, 2022年
  DOI:10.1016/j.scr.2022.102867
• Establishment of a human induced pluripotent stem cell line, KMUGMCi003-A, from a patient with trichothiodystrophy 1 (TTD1) bearing compound heterozygous missense mutations in the ERCC2 gene., Ura Hiroki;Togi Sumihito;Hatanaka Hisayo;Niida Yo, Stem cell research, 64, 2022年
  DOI:10.1016/j.scr.2022.102885
• Membranous Nephropathy-Like Apolipoprotein E Deposition Disease with Apolipoprotein E Toyonaka and Homozygous Apolipoprotein E2/2 without Dyslipidemia, with Characteristic Electron-Dense Deposits., Koshino Akihiko;Takaeda Chikako;Matsuno Takahiro;Kitajima Shinji;Iwata Yasunori;Sakai Norihiko;Nagahama Kiyotaka;Niida Yo;Saito Takao;Yokoyama Hitoshi;Wada Takashi, Case reports in nephrology and dialysis, 12, 2022年
  DOI:10.1159/000525086
• Establishment of a human induced pluripotent stem cell line, KMUGMCi005-A, from a patient with Epidermodysplasia verruciformis (EV) bearing homozygous splicing donor site mutation in the TMC8 gene., Ura Hiroki;Togi Sumihito;Hatanaka Hisayo;Niida Yo, Stem cell research, 64, 2022年
  DOI:10.1016/j.scr.2022.102926
• Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex., Togi Sumihito;Ura Hiroki;Hatanaka Hisayo;Niida Yo, International journal of molecular sciences, 23, 2022年
  DOI:10.3390/ijms231911175
• The Detection of Immunity against WT1 and SMAD4P130L of EpCAM+ Cancer Cells in Malignant Pleural Effusion., Koya Terutsugu;Niida Yo;Togi Misa;Yoshida Kenichi;Sakamoto Takuya;Ura Hiroki;Togi Sumihito;Kato Tomohisa;Yamada Sohsuke;Sugiyama Haruo;Koido Shigeo;Shimodaira Shigetaka, International journal of molecular sciences, 23, 2022年
  DOI:10.3390/ijms232012177
• Streamlining Genetic Diagnosis With Long-Range Polymerase Chain Reaction (PCR)-Based Next-Generation Sequencing for Type I and Type II Collagenopathies., Niida Yo;Togi Sumihito;Ura Hiroki, Cureus, 15, 2023年
  DOI:10.7759/cureus.50482
• Astrocyte-induced mGluR1 activates human lung cancer brain metastasis via glutamate-dependent stabilization of EGFR., Ishibashi Kojiro;Ichinose Toshiya;Kadokawa Riki;Mizutani Ryo;Iwabuchi Sadahiro;Togi Sumihito;Ura Hiroki;Tange Shoichiro;Shinjo Keiko;Nakayama Jun;Nanjo Shigeki;Niida Yo;Kondo Yutaka;Hashimoto Shinichi;Sahai Erik;Yano Seiji;Nakada Mitsutoshi;Hirata Eishu, Developmental cell, 59, 2024年
  DOI:10.1016/j.devcel.2024.01.010
• Establishment of a human induced pluripotent stem cell line, KMUGMCi010-A, from a patient with X-linked Ohdo syndrome bearing missense mutation in the MED12 gene., Ura Hiroki;Togi Sumihito;Hatanaka Hisayo;Niida Yo, Stem cell research, 77, 2024年
  DOI:10.1016/j.scr.2024.103388
• Qualitative and quantitative analysis of MED12 c.887G>A causing both missense and splicing variants in X-linked Ohdo syndrome., Togi Sumihito;Ura Hiroki;Niida Yo, American journal of medical genetics. Part A, 194, 2024年
  DOI:10.1002/ajmg.a.63628
• Clinical and Diagnostic Utility of Genomic Profiling for Digestive Cancers: Real-World Evidence from Japan., Ishikawa Marin;Nakamura Kohei;Kawano Ryutaro;Hayashi Hideyuki;Ikeda Tatsuru;Saito Makoto;Niida Yo;Sasaki Jiichiro;Okuda Hiroyuki;Ishihara Satoshi;Yamaguchi Masatoshi;Shimada Hideaki;Isobe Takeshi;Yuza Yuki;Yoshimura Akinobu;Kuroda Hajime;Yukisawa Seigo;Aoki Takuya;Takeshita Kei;Ueno Shinichi;Nakazawa Junichi;Sunakawa Yu;Nohara Sachio;Okada Chihiro;Nishimiya Ko;Tanishima Shigeki;Nishihara Hiroshi, Cancers, 16, 2024年
  DOI:10.3390/cancers16081504
• Comparison of RNA-Sequencing Methods for Degraded RNA., Ura Hiroki;Niida Yo, International journal of molecular sciences, 25, 2024年
  DOI:10.3390/ijms25116143
• Investigation of a novel PROS1 splicing variant in a patient with protein S deficiency., Niida Yo;Fujita Wataru;Togi Sumihito;Ura Hiroki, Human genome variation, 11, 2024年
  DOI:10.1038/s41439-024-00286-9
• Individualized tacrolimus therapy: Insights from CYP3A5 polymorphisms and intestinal metabolism., Mishima Mizuki;Yabe Tomohisa;Kondo Takaya;Fujimoto Keiji;Takata Ryoji;Yokoyama Hitoshi;Niida Yo;Tanaka Tatsuro;Miyazawa Katsuhito;Furuichi Kengo, Clinical case reports, 12, 2024年
  DOI:10.1002/ccr3.9416
• Progressive Polycystic Kidney Disease in an Infant Girl With TSC2/PKD1 Contiguous Gene Syndrome., Hashimoto Kazuhiko;Hayashida Takuya;Otsubo Yoshikazu;Niida Yo;Dateki Sumito, Cureus, 16, 2024年
  DOI:10.7759/cureus.67800
• CYLD novel splicing mutation in a patient with CYLD cutaneous syndrome with basal cell carcinomas., Nishio Jiro;Hatta Naohito;Ishii Takayuki;Yamamoto Keiko;Shirasaki Fumiaki;Togi Sumihito;Ura Hiroki;Niida Yo, The Journal of dermatology, 52, 2025年
  DOI:10.1111/1346-8138.17584
• Establishment of a human induced pluripotent stem cell line, KMUGMCi008-A, from a patient with A Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome bearing heterozygous frameshift mutation in the KAT6B gene., Ura Hiroki;Togi Sumihito;Hatanaka Hisayo;Niida Yo, Stem cell research, 84, 2025年
  DOI:10.1016/j.scr.2025.103671
• Establishment of a human induced pluripotent stem cell line, KMUGMCi009-A, from a patient bearing a missense mutation in the MED12 gene leading X-linked Ohdo syndrome., Ura Hiroki;Togi Sumihito;Hatanaka Hisayo;Niida Yo, Stem cell research, 84, 2025年
  DOI:10.1016/j.scr.2025.103688
• Clinical and Molecular Genetic Analyses of a Girl With Isolated Nephrogenic Diabetes Insipidus due to Contiguous Gene Deletion Involving AVPR2 and L1CAM., Saito Shoma;Suzuki Shigeru;Izumi Kengo;Kamiyama Takumi;Saito Kosuke;Yamamura Hinako;Kokumai Takahide;Furuya Akiko;Taketazu Genya;Makita Yoshio;Niida Yo;Takahashi Satoru, American journal of medical genetics. Part A, 197, 2025年
  DOI:10.1002/ajmg.a.64024
• Integrated Analysis of Somatic DNA Variants and DNA Methylation of Tumor Suppressor Genes in Colorectal Cancer., Nishiki Hisashi;Ura Hiroki;Togi Sumihito;Hatanaka Hisayo;Fujita Hideto;Takamura Hiroyuki;Niida Yo, International journal of molecular sciences, 26, 2025年
  DOI:10.3390/ijms26041642
• A male patient with pseudoxanthoma elasticum caused by isodisomy of chromosome 16 containing a nonsense variant of the ABCC6 gene: A quarter-century treatment experience., Wakasa Minoru;Nakagawa Chihiro;Takamura Taka-Aki;Fujibayashi Kosuke;Akao Hironobu;Kitayama Michihiko;Shimizu Akira;Niida Yo;Kajinami Kouji, Atherosclerosis plus, 60, 2025年
  DOI:10.1016/j.athplu.2025.03.001
• Computational Comparison of Differential Splicing Tools for Targeted RNA Long-Amplicon Sequencing (rLAS)., Ura Hiroki;Hatanaka Hisayo;Togi Sumihito;Niida Yo, International journal of molecular sciences, 26, 2025年
  DOI:10.3390/ijms26073220
• A Case of Pseudoxanthoma Elasticum Caused by a Novel Structural Variant of the ABCC6 Gene., Yurika Abe;Takamiya Yuko;Ono Hiroto;Takeda Kiminobu;Shimizu Akira;Togi Sumihito;Ura Hiroki;Niida Yo, The Journal of dermatology, 52, 2025年
  DOI:10.1111/1346-8138.17821
• A Case of Prolidase Deficiency With Long-Term Clinical Follow-Up., Ono Hiroto;Ono Yoko;Uchiyama Eri;Takeda Kiminobu;Ochiai Sawako;Togi Sumihito;Ura Hiroki;Niida Yo;Shimizu Akira, The Journal of dermatology, 52, 2025年
  DOI:10.1111/1346-8138.17909
• A Case of Multifocal Venous Malformation With Two Somatic Pathogenic Variants in the TEK Gene., Ochiai Sawako;Ono Hiroto;Shimizu Akira;Togi Sumihito;Ura Hiroki;Niida Yo, The Journal of dermatology, 2025年
  DOI:10.1111/1346-8138.70078
• Establishment of a human induced pluripotent stem cell line, KMUGMCi007-A, from a patient with prolidase deficiency (PD) bearing homozygous in-frame mutation in the PEPD gene., Ura Hiroki;Togi Sumihito;Ozaki Mamoru;Hatanaka Hisayo;Niida Yo, Stem cell research, 69, 2023年
  DOI:10.1016/j.scr.2023.103075
• Schimmelpenning-Feuerstein-Mims syndrome induced by HRAS Gly12Ser somatic mosaic mutation: Case report and literature review., Ono Hiroto;Yamaguchi Reimon;Arai Minako;Togi Sumihito;Ura Hiroki;Niida Yo;Shimizu Akira, The Journal of dermatology, 50, 2023年
  DOI:10.1111/1346-8138.16822
• Establishment of human induced pluripotent stem cell lines, KMUGMCi006, from a patient with Tuberous sclerosis complex (TSC) bearing mosaic nonsense mutations in the Tuberous sclerosis complex 2 (TSC2) gene., Ura Hiroki;Togi Sumihito;Ozaki Mamoru;Hatanaka Hisayo;Niida Yo, Stem cell research, 70, 2023年
  DOI:10.1016/j.scr.2023.103129
• Clinical Practice Guidelines for tuberous sclerosis complex-associated renal angiomyolipoma by the Japanese Urological Association: Summary of the update., Osawa Takahiro;Oya Mototsugu;Okanishi Tohru;Kuwatsuru Ryohei;Kawano Haruna;Tomita Yoshihiko;Niida Yo;Nonomura Norio;Hatano Takashi;Fujii Yasuhisa;Mizuguchi Masashi;Shinohara Nobuo, International journal of urology : official journal of the Japanese Urological Association, 30, 2023年
  DOI:10.1111/iju.15213
• A rare case of 1q31.1-q32.1 deletion with congenital heart disease., Takarada Shinya;Yoshimura Naoki;Yo Niida;Hirono Keiichi, Journal of cardiology cases, 28, 2023年
  DOI:10.1016/j.jccase.2023.02.017
• Clinical Trial on the Safety and Tolerability of Personalized Cancer Vaccines Using Human Platelet Lysate-Induced Antigen-Presenting Cells., Koya Terutsugu;Yoshida Kenichi;Togi Misa;Niida Yo;Togi Sumihito;Ura Hiroki;Mizuta Shuichi;Kato Tomohisa;Yamada Sohsuke;Shibata Takeo;Liu Yi-Chang;Yuan Shyng-Shiou;Wu Deng-Chyang;Kobayashi Hirohito;Utsugisawa Taiju;Kanno Hitoshi;Shimodaira Shigetaka, Cancers, 15, 2023年
  DOI:10.3390/cancers15143627
• Negative correlation between organ heteroplasmy, particularly hepatic heteroplasmy, and age at death revealed by post-mortem studies of m.3243A > G cases., Yagi Kunimasa;Okazaki Satoko;Ohbatake Azusa;Nakaya Masako;Liu Jianhui;Arite Eiko;Miyamoto Yukiko;Ito Naoko;Nakano Kaoru;Yamaaki Naoto;Honoki Hisae;Fujisaka Shiho;Chujo Daisuke;Tsunoda Shin-Ichiro;Yanagimoto Kunio;Nozue Tsuyoshi;Yamada Masayo;Ooe Kotaro;Araki Tsutomu;Nakashima Akikatsu;Azami Yasushi;Sodemoto Yukio;Tadokoro Kenichi;Nagano Makoto;Noguchi Tohru;Nohara Atushi;Origasa Hideki;Niida Yo;Tada Hayato, Molecular genetics and metabolism, 140, 2023年
  DOI:10.1016/j.ymgme.2023.107691
• Target-capture full-length double-stranded cDNA long-read sequencing through Nanopore revealed novel intron retention in patient with tuberous sclerosis complex., Ura Hiroki;Togi Sumihito;Niida Yo, Frontiers in genetics, 14, 2023年
  DOI:10.3389/fgene.2023.1256064
• An optimized cocktail of small molecule inhibitors promotes the maturation of dendritic cells in GM-CSF mouse bone marrow culture., Matsuba Shintaro;Ura Hiroki;Saito Fumiji;Ogasawara Chie;Shimodaira Shigetaka;Niida Yo;Onai Nobuyuki, Frontiers in immunology, 14, 2023年
  DOI:10.3389/fimmu.2023.1264609
• Recessive dystrophic epidermolysis bullosa caused by a novel COL7A1 variant with isodisomy., Niida Yo;Kobayashi Azusa;Togi Sumihito;Ura Hiroki, Human genome variation, 10, 2023年
  DOI:10.1038/s41439-023-00257-6
• SNP Array Screening and Long Range PCR-Based Targeted Next Generation Sequencing for Autosomal Recessive Disease with Consanguinity: Insight from a Case of Xeroderma Pigmentosum Group C., Nomura Fumie;Shimizu Akira;Togi Sumihito;Ura Hiroki;Niida Yo, Genes, 14, 2023年
  DOI:10.3390/genes14112079
• A Case of Von Hippel-Lindau Disease With Recurrence of Paraganglioma and No Other Associated Symptoms: The Importance of Genetic Testing and Establishing Follow-Up Policies., Okada Naoki;Shioya Akihiro;Togi Sumihito;Ura Hiroki;Niida Yo, Cureus, 15, 2023年
  DOI:10.7759/cureus.50484

書籍等出版物

• 各論 2 発達相談で受診した斜めの線が引けない5歳女児, 16 点頭てんかんで紹介された4か月女児, 37 精神運動発達退行を示した3歳女児
  症例でわかる小児神経疾患の遺伝学的アプローチ（編集：日本小児神経学会, 監修：山本俊至）
  新井田要
  診断と治療社 2019年12月
• CHIPS法による遺伝子変異スクリーニング
  週刊　医学のあゆみ　Vol.260　No.12
  新井田要
  医歯薬出版株式会社 2017年03月
• サンガーシーケンス
  小児内科　49巻増刊号　小児臨床検査のポイント2017
  新井田要
  東京医学社 2017年11月
• 神経皮膚症候群
  小児神経専門医テキスト　（日本小児神経学会）
  新井田要
  診断と治療社 2017年06月
• 結節性硬化症
  皮膚科の臨床　第59巻　第6号
  新井田要
  金原出版株式会社 2017年05月
• 結節性硬化症の遺伝子検査
  結節性硬化症の診断と治療最前線（日本結節性硬化症学会）
  新井田要
  診断と治療差 2016年07月
• 遺伝医療の一般診療化に向けて
  石川医報　第1595号
  新井田要
  石川県医師会 2015年09月
• TSC1（関連疾患：結節性硬化症　関連遺伝子：TSC2）
  小児科診療 Vol.84 No.11 小児遺伝子疾患事典
  新井田要
  診断と治療社 2021年11月
• 次世代シーケンス解析技術を用いた遺伝性疾患の疾患原因遺伝子変異の同定
  患原因遺伝子・タンパク質の解析技術と創薬／診断技術への応用
  新井田要, 硎 澄仁，浦 大樹
  技術情報協会 2022年03月
• 次世代シークエンサ（NGS）を用いた遺伝子検査の基礎
  検査と技術　vol.51 No.8
  新井田　要
  医学書院 2023年08月

競争的資金

• メンデル遺伝病の補完遺伝子検査システムの構築と遺伝医療における社会実装
  文部科学省：科学研究費　基盤研究(C)
  研究期間：2016年 - 2018年  
  代表者:新井田要
• ゲノム医療の実装に資する臨床ゲノム情報統合データベースの整備と我が国の継続的なゲノム医療実施体制の構築
  日本医療研究開発機構(AMED)：AMED研究費　分担研究　臨床ゲノム情報統合データベース整備事業
  研究期間：2016年 - 2020年  
  代表者:加藤規弘（国立国際医療研究センター）分担・連携研究者:新井田要
• 結節性硬化症における体細胞ﾓｻﾞｲｸ変異の同定を含めた包括的遺伝子判断ｼｽﾃﾑの開発と、新たな高次脳機能予測ﾏｰｶｰとしてのTSC1 non-functional splicing variant 多型の意義の決定
  その他：2016年度ノバルティスファーマ研究助成
  研究期間：2016年 - 2016年  
  代表者:新井田要
• ＴＳＣ遺伝子のmRNAプロセッシングの個体差が結節性硬化症の重症度に与える影響の解明
  その他：公益信託康本徳守記念結節性硬化症関連神経難病研究基金　研究助成
  研究期間：2019年 - 2019年  
  代表者:新井田　要