Shumpei Morita, Taisuke Yamauchi, Yumie Tamura, Tomonori Suzuki, Toshihiro Nomura, Hiroshi Shiraku, Koji Takahashi, Kei Takasawa, Kenichi Kashimada, Tomoko Mizuno: Endocrinological study of low-dose adrenocorticotropic hormone therapy without tapering in infantile epileptic spasms syndrome. Brain Dev. 2025.08; 47 (4): 104376. ( PubMed , DOI )

Makiko Tachibana, Yuji Oto, Kenichi Kashimada, Tomohiro Ishii, Yutaka Takahashi, Koji Muroya, Yoko Aoki, Kenji Kurosawa, Tsutomu Ogata, Masanobu Kawai: A questionnaire-based survey on hyperphagia in individuals with Prader-Willi syndrome in Japan. Endocr J. 2025.07; ( PubMed , DOI )

Ryuta Orimoto, Eriko Adachi, Maki Gau, Yoko Saito, Haruki Yamano, Hisae Nakatani, Shizuka Kirino, Kengo Moriyama, Yohei Yamaguchi, Tomoko Mizuno, Taku Ishii, Masayuki Yoshida, Kenichi Kashimada, Kei Takasawa: Hyaluronidase 2 deficiency due to novel compound heterozygous variants in HYAL2: a case report of siblings with HYAL2 deficiency showing different clinical severity and literature review. Journal of Human Genetics. 2025.06; 70 (6): 321-324. ( PubMed , DOI )

Fujii W, Yamazaki O, Hirohama D, Kaseda K, Kuribayashi-Okuma E, Tsuji M, Hosoyamada M, Kochi Y, Shibata S: Gene-environment interaction modifies the association between hyperinsulinemia and serum urate levels through SLC22A12. The Journal of clinical investigation. 2025.05; 135 (10): ( PubMed , DOI )

Sakurai M, Hosokawa S, Yamaguchi Y, Kirimura S, Ihara K, Ohashi K, Furukawa T, Sasano T, Kashimada K, Ishii T: Cyclopamine Attenuates Pulmonary Arterial Hypertension Development: Implications of Hedgehog Signaling Involvement for the Pathophysiology. FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 2025.05; 39 (10): e70628. ( PubMed , DOI )

Yuriko Sugiura, Takahiro Ando, Hirokazu Urushiyama, Akihisa Mitani, Goh Tanaka, Kenichi Kashimada, Tomohiro Morio, Hidenori Kage: GATA2 Deficiency With Early-Onset and Progressive Interstitial Lung Disease. Respirol Case Rep. 2025.04; 13 (4): e70165. ( PubMed , DOI )

Shirakawa S, Yamano H, Iemura R, Sutani A, Adachi E, Kashimada K, Takasawa K: Classic 21-hydroxylase deficiency in opposite-sex twins. Pediatrics international : official journal of the Japan Pediatric Society. 2025.01; 67 (1): e70058. ( PubMed , DOI )

Shizuka Kirino, Ryuichi Nakagawa, Maki Gau, Kei Takasawa, Yasuhiro Murakawa, Hideya Kawaji, Yoshihide Hayashizaki, Tomohiro Morio, Kenichi Kashimada: Analysis of Functional Cis-regulatory Elements Reveals Novel Transcriptional Regulatory Mechanisms in Gonadal Development. Sex Dev. 2025.01; 1-19. ( PubMed , DOI )

Asano K, Yoshimi K, Takeshita K, Mitsuhashi S, Kochi Y, Hirano R, Tingyu Z, Ishida S, Mashimo T: CRISPR Diagnostics for Quantification and Rapid Diagnosis of Myotonic Dystrophy Type 1 Repeat Expansion Disorders. ACS synthetic biology. 2024.12; 13 (12): 3926-3935. ( PubMed , DOI )

Yuri Suzuki, Ryosei Iemura, Akito Sutani, Yuki Mizuno, Eriko Adachi, Mineko Ushiama, Teruhiko Yoshida, Makoto Hirata, Akihiro Hoshino, Kurara Yamomoto, Takumi Akashi, Yoshiko Nakano, Takeshi Isoda, Kei Takasawa, Motohiro Kato, Masatoshi Takagi, Kentaro Okamoto, Tomohiro Morio, Kenichi Kashimada: Familial and early recurrent pheochromocytoma in a child with a novel in-frame duplication variant of VHL. Clin Pediatr Endocrinol. 2024.10; 33 (4): 229-237. ( PubMed , DOI )

Ueda MT, Inamo J, Miya F, Shimada M, Yamaguchi K, Kochi Y: Functional and dynamic profiling of transcript isoforms reveals essential roles of alternative splicing in interferon response. Cell genomics. 2024.10; 4 (10): 100654. ( PubMed , DOI )

Ono Chisato, Kochi Yuta, Baba Yoshihiro, Tanaka Shinya: B細胞におけるFcrl5過剰発現によるB細胞の生存性促進により液性免疫反応は増強される(Humoral responses are enhanced by facilitating B cell viability by Fcrl5 overexpression in B cells) International Immunology. 2024.10; 36 (10): 529-539. ( 医中誌 )

Izuka S, Umezawa N, Komai T, Sugimori Y, Kimura N, Mizoguchi F, Fujieda Y, Ninagawa K, Iwasaki T, Suzuki K, Takeuchi T, Ohmura K, Mimori T, Atsumi T, Kawakami E, Suzuki A, Kochi Y, Yamamoto K, Yasuda S, Okamura T, Ota M, Fujio K: The muscle tissue transcriptome of idiopathic inflammatory myopathy reflects the muscle damage process by monocytes and presence of skin lesions. Arthritis & rheumatology (Hoboken, N.J.). 2024.08; 77 (1): 99-106. ( PubMed , DOI )

Takasawa Kei, Iemura Ryosei, Orimoto Ryuta, Yamano Haruki, Kirino Shizuka, Adachi Eriko, Saito Yoko, Yamamoto Kurara, Matsuda Nozomi, Takishima Shigeru, Shuno Kumi, Tajima Hanako, Sugie Manabu, Mizuno Yuki, Sutani Akito, Okamoto Kentaro, Masue Michiya, Morio Tomohiro, Kashimada Kenichi: Clinical management of diazoxide-unresponsive congenital hyperinsulinism: A single-center experience Clinical Pediatric Endocrinology. 2024.07; 33 (3): 187-194. ( 医中誌 )

Noboru Uchida, Tomohiro Ishii, Gen Nishimura, Takeshi Sato, Gen Kuratsuji, Keisuke Nagasaki, Yuki Hosokawa, Eriko Adachi, Kei Takasawa, Kenichi Kashimada, Yuko Tsujioka, Tomonobu Hasegawa: RMRP-related short stature: A report of six additional Japanese individuals with cartilage hair hypoplasia and literature review. Am J Med Genet A. 2024.06; 194 (6): e63562. ( PubMed , DOI )

Inamo J, Suzuki A, Ueda MT, Yamaguchi K, Nishida H, Suzuki K, Kaneko Y, Takeuchi T, Hatano H, Ishigaki K, Ishihama Y, Yamamoto K, Kochi Y: Long-read sequencing for 29 immune cell subsets reveals disease-linked isoforms. Nature communications. 2024.05; 15 (1): 4285. ( PubMed , DOI )

Ono C, Kochi Y, Baba Y, Tanaka S: Humoral responses are enhanced by facilitating B cell viability by Fcrl5 overexpression in B cells. International immunology. 2024.05; 36 (10): 529-540. ( PubMed , DOI )

Manabu S, Nawa N, Noguchi Y, Taki A, Kashimada A, Honda I, Koyama A, Okazaki K, Kondo M, Miyahara H, Ito K, Yamauchi T, Kondo T, Honda-Ozaki F, Kusuda S, Morioka C, Fujiwara T, Morio T, Kashimada K: Stage III Chorioamnionitis Is Associated with Reduced Risk of Severe Retinopathy of Prematurity. The Journal of pediatrics. 2024.05; 114085. ( PubMed , DOI )

Oka, A; Hadano, S; Ueda, MT; Nakagawa, S; Komaki, G; Ando, T: Rare CRHR2 and GRM8 variants identified as candidate factors associated with eating disorders in Japanese patients by whole exome sequencing HELIYON. 2024.04; 10 (8): e28643. ( PubMed , DOI )

Okunishi K, Kochi Y, Zhao M, Wang H, Nakagome K, Izumi T: Munc13-4 regulates asthma and obesity in mice by controlling functions of CD11c(+) antigen-presenting cells. Allergy. 2024.03; 79 (7): 1992-1995. ( PubMed , DOI )

Fuseya Y, Kadoba K, Liu X, Suetsugu H, Iwasaki T, Ohmura K, Sumida T, Kochi Y, Morinobu A, Terao C, Iwai K: Attenuation of HOIL-1L ligase activity promotes systemic autoimmune disorders by augmenting linear ubiquitin signaling. JCI insight. 2024.02; 9 (3): ( PubMed , DOI )

Eriko Adachi, Ryuichi Nakagawa, Atsumi Tsuji-Hosokawa, Maki Gau, Shizuka Kirino, Analia Yogi, Hisae Nakatani, Kei Takasawa, Tomomi Yamaguchi, Tomoki Kosho, Masanori Murakami, Toshihiro Tajima, Tomonobu Hasegawa, Tetsuya Yamada, Tomohiro Morio, Osamu Ohara, Kenichi Kashimada: A MinION-based Long-Read Sequencing Application With One-Step PCR for the Genetic Diagnosis of 21-Hydroxylase Deficiency. J Clin Endocrinol Metab. 2024.02; 109 (3): 750-760. ( PubMed , DOI )

Konno, Y; Uriu, K; Chikata, T; Takada, T; Kurita, JI; Ueda, MT; Islam, S; Tan, BJY; Ito, J; Aso, H; Kumata, R; Williamson, C; Iwami, S; Takiguchi, M; Nishimura, Y; Morita, E; Satou, Y; Nakagawa, S; Koyanagi, Y; Sato, K: Two-step evolution of HIV-1 budding system leading to pandemic in the human population CELL REPORTS. 2024.02; 43 (2): ( PubMed , DOI )

Ueda, MT: Retrotransposon-derived transcripts and their functions in immunity and disease GENES & GENETIC SYSTEMS. 2023.12; 98 (6): 305-319. ( PubMed , DOI )

Shichen Chang, Satoru Torii, Jun Inamo, Kinya Ishikawa, Yuta Kochi, Shigeomi Shimizu: Uncovering the Localization and Function of a Novel Read-Through Transcript ' TOMM40-APOE' Cells. 2023.12; 13 (1): ( PubMed , DOI )

Salim Ferrani, Thierry Prazuck, Stéphane Béchet, Fabien Lesne, Robert Cohen, Corinne Levy: Diagnostic accuracy of a rapid antigen triple test (SARS-CoV-2, respiratory syncytial virus, and influenza) using anterior nasal swabs versus multiplex RT-PCR in children in an emergency department. Infect Dis Now. 2023.10; 53 (7): 104769. ( PubMed , DOI )

Analia Yogi, Kenichi Kashimada: Current and future perspectives on clinical management of classic 21-hydroxylase deficiency. Endocr J. 2023.10; 70 (10): 945-957. ( PubMed , DOI )

Tomoko Mizuno, Tadashi Kanouchi, Yumie Tamura, Ko Hirata, Runa Emoto, Tomonori Suzuki, Kenichi Kashimada, Tomohiro Morio: Changes in electrophysiological findings of spinal muscular atrophy type I after the administration of nusinersen and onasemnogene abeparvovec: two case reports. BMC Neurol. 2023.10; 23 (1): 392. ( PubMed , DOI )

Chisato Ono, Shinya Tanaka, Keiko Myouzen, Takeshi Iwasaki, Mahoko Ueda, Yoshinao Oda, Kazuhiko Yamamoto, Yuta Kochi, Yoshihiro Baba: Upregulated Fcrl5 disrupts B cell anergy causes autoimmune disease Frontiers in Immunology. 2023.09; 14 276014. ( DOI )

Mahoko Takahashi Ueda: Retrotransposon-derived transcripts and their functions associated with immunity and disease Genes & Genetic Systems. 2023.09; in press

Yogi A, Iemura R, Nakatani H, Takasawa K, Gau M, Yamauchi T, Yoshida M, Moriyama K, Ishii T, Hosokawa S, Yamada M, Suzuki H, Kosaki K, Kashimada K, Morio T: BMP2 is a potential causative gene for isolated dextrocardia situs solitus. European journal of medical genetics. 2023.08; 66 (9): 104820. ( PubMed , DOI )

Kei Takasawa, Hiroyo Mabe, Fusa Nagamatsu, Naoko Amano, Yuichi Miyakawa, Akito Sutani, Reiko Kagawa, Satoshi Okada, Yusuke Tanahashi, Shigeru Suzuki, Shota Hiroshima, Keisuke Nagasaki, Sumito Dateki, Shigeru Takishima, Ikuko Takahashi, Kenichi Kashimada: Growth Hormone Injection Log Analysis with Electronic Injection Device for Qualifying Adherence to Low-Irritant Formulation and Exploring Influential Factors on Adherence. Patient Prefer Adherence. 2023.08; 17 1885-1894. ( PubMed , DOI )

Mitsui Y, Suzuki T, Kuniyoshi K, Inamo J, Yamaguchi K, Komuro M, Watanabe J, Edamoto M, Li S, Kouno T, Oba S, Hosoya T, Masuhiro K, Naito Y, Koyama S, Sakaguchi N, Standley DM, Shin JW, Akira S, Yasuda S, Miyazaki Y, Kochi Y, Kumanogoh A, Okamoto T, Satoh T: Expression of the readthrough transcript CiDRE in alveolar macrophages boosts SARS-CoV-2 susceptibility and promotes COVID-19 severity. Immunity. 2023.07; 56 (8): 1939-1954.e12. ( PubMed , DOI )

Nao Otomo, Anas M Khanshour, Masaru Koido, Kazuki Takeda, Yukihide Momozawa, Michiaki Kubo, Yoichiro Kamatani, John A Herring, Yoji Ogura, Yohei Takahashi, Shohei Minami, Koki Uno, Noriaki Kawakami, Manabu Ito, Tatsuya Sato, Kei Watanabe, Takashi Kaito, Haruhisa Yanagida, Hiroshi Taneichi, Katsumi Harimaya, Yuki Taniguchi, Hideki Shigematsu, Takahiro Iida, Satoru Demura, Ryo Sugawara, Nobuyuki Fujita, Mitsuru Yagi, Eijiro Okada, Naobumi Hosogane, Katsuki Kono, Masaya Nakamura, Kazuhiro Chiba, Toshiaki Kotani, Tsuyoshi Sakuma, Tsutomu Akazawa, Teppei Suzuki, Kotaro Nishida, Kenichiro Kakutani, Taichi Tsuji, Hideki Sudo, Akira Iwata, Satoshi Inami, Carol A Wise, Yuta Kochi, Morio Matsumoto, Shiro Ikegawa, Kota Watanabe, Chikashi Terao: Evidence of causality of low body mass index on risk of adolescent idiopathic scoliosis: a Mendelian randomization study. Front Endocrinol (Lausanne). 2023.06; 14 1089414. ( PubMed , DOI )

Anita C S Hokken-Koelega, Manouk van der Steen, Margaret C S Boguszewski, Stefano Cianfarani, Jovanna Dahlgren, Reiko Horikawa, Veronica Mericq, Robert Rapaport, Abdullah Alherbish, Debora Braslavsky, Evangelia Charmandari, Steven D Chernausek, Wayne S Cutfield, Andrew Dauber, Asma Deeb, Wesley J Goedegebuure, Paul L Hofman, Elvira Isganatis, Alexander A Jorge, Christina Kanaka-Gantenbein, Kenichi Kashimada, Vaman Khadilkar, Xiao-Ping Luo, Sarah Mathai, Yuya Nakano, Mabel Yau: International Consensus Guideline on Small for Gestational Age: Etiology and Management From Infancy to Early Adulthood. Endocr Rev. 2023.05; 44 (3): 539-565. ( PubMed , DOI )

Fujitani H, Eguchi H, Kochi Y, Arai T, Muramatsu M, Okazaki Y: Rare germline variants in pancreatic cancer and multiple primary cancers: an autopsy study. European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP). 2023.05; 32 (3): 286-297. ( PubMed , DOI )

Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, Peng Zhang, Jeremy Manry, Yoann Seeleuthner, Yu Zhang, Alexandre Bolze, Matthieu Chaldebas, Baptiste Milisavljevic, Adrian Gervais, Paul Bastard, Takaki Asano, Lucy Bizien, Federica Barzaghi, Hassan Abolhassani, Ahmad Abou Tayoun, Alessandro Aiuti, Ilad Alavi Darazam, Luis M Allende, Rebeca Alonso-Arias, Andrés Augusto Arias, Gokhan Aytekin, Peter Bergman, Simone Bondesan, Yenan T Bryceson, Ingrid G Bustos, Oscar Cabrera-Marante, Sheila Carcel, Paola Carrera, Giorgio Casari, Khalil Chaïbi, Roger Colobran, Antonio Condino-Neto, Laura E Covill, Ottavia M Delmonte, Loubna El Zein, Carlos Flores, Peter K Gregersen, Marta Gut, Filomeen Haerynck, Rabih Halwani, Selda Hancerli, Lennart Hammarström, Nevin Hatipoğlu, Adem Karbuz, Sevgi Keles, Christèle Kyheng, Rafael Leon-Lopez, Jose Luis Franco, Davood Mansouri, Javier Martinez-Picado, Ozge Metin Akcan, Isabelle Migeotte, Pierre-Emmanuel Morange, Guillaume Morelle, Andrea Martin-Nalda, Giuseppe Novelli, Antonio Novelli, Tayfun Ozcelik, Figen Palabiyik, Qiang Pan-Hammarström, Rebeca Pérez de Diego, Laura Planas-Serra, Daniel E Pleguezuelo, Carolina Prando, Aurora Pujol, Luis Felipe Reyes, Jacques G Rivière, Carlos Rodriguez-Gallego, Julian Rojas, Patrizia Rovere-Querini, Agatha Schlüter, Mohammad Shahrooei, Ali Sobh, Pere Soler-Palacin, Yacine Tandjaoui-Lambiotte, Imran Tipu, Cristina Tresoldi, Jesus Troya, Diederik van de Beek, Mayana Zatz, Pawel Zawadzki, Saleh Zaid Al-Muhsen, Mohammed Faraj Alosaimi, Fahad M Alsohime, Hagit Baris-Feldman, Manish J Butte, Stefan N Constantinescu, Megan A Cooper, Clifton L Dalgard, Jacques Fellay, James R Heath, Yu-Lung Lau, Richard P Lifton, Tom Maniatis, Trine H Mogensen, Horst von Bernuth, Alban Lermine, Michel Vidaud, Anne Boland, Jean-François Deleuze, Robert Nussbaum, Amanda Kahn-Kirby, France Mentre, Sarah Tubiana, Guy Gorochov, Florence Tubach, Pierre Hausfater, , , , , , , , , , Isabelle Meyts, Shen-Ying Zhang, Anne Puel, Luigi D Notarangelo, Stephanie Boisson-Dupuis, Helen C Su, Bertrand Boisson, Emmanuelle Jouanguy, Jean-Laurent Casanova, Qian Zhang, Laurent Abel, Aurélie Cobat: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 Genome Med. 2023.04; 15 (1): 22. ( PubMed , DOI )

Kento Inoue, Satoshi Miyamoto, Dan Tomomasa, Eriko Adachi, Shohei Azumi, Yasuo Horikoshi, Takashi Ishihara, Shinya Osone, Yuta Kawahara, Ko Kudo, Zenichiro Kato, Hidenori Ohnishi, Kenichi Kashimada, Kohsuke Imai, Osamu Ohara, Menno C van Zelm, Morton J Cowan, Tomohiro Morio, Hirokazu Kanegane: Clinical and Genetic Characterization of Patients with Artemis Deficiency in Japan. J Clin Immunol. 2023.04; 43 (3): 585-594. ( PubMed , DOI )

Ryosuke Wakatsuki, Masaki Shimizu, Asami Shimbo, Eriko Adachi, Toru Kanamori, Susumu Yamazaki, Tomohiro Udagawa, Kei Takasawa, Kenichi Kashimada, Tomohiro Morio, Masaaki Mori: Atrophic autoimmune thyroiditis complicated with systemic lupus erythematosus. Mod Rheumatol Case Rep. 2023.01; 7 (1): 65-67. ( PubMed , DOI )

Aoi Morishita, Tzu-Wen Yeh, Kouki Tomari, Mihoko Furuichi, Kenichi Kashimada, Tomohiro Morio, Masatoshi Takagi, Kohsuke Imai: Transient immune deficiency accompanied with homozygous CBL rare variant. Pediatr Int. 2023.01; 65 (1): e15439. ( PubMed , DOI )

Arisa Nakamura, Eriko Adachi, Yohei Matsubara, Taku Ishii, Susumu Hosokawa, Kenichi Kashimada, Kei Takasawa: Monitoring hypoparathyroidism in long QT syndrome detected by ECG screening. Pediatr Int. 2023.01; e15481. ( PubMed , DOI )

Jumpei Kuroda, Kenichi Kashimada, Kaoru Okazaki: Neonatal alloimmune thrombocytopenia associated with fetomaternal hemorrhage. Pediatr Int. 2023; 65 (1): e15619. ( PubMed , DOI )

Shizuka Kirino, Analia Yogi, Eriko Adachi, Hisae Nakatani, Maki Gau, Ryosei Iemura, Haruki Yamano, Toru Kanamori, Takayasu Mori, Eisei Sohara, Shinichi Uchida, Kentaro Okamoto, Tomohiro Udagawa, Kei Takasawa, Tomohiro Morio, Kenichi Kashimada: Phenotypic Variation in 46,XX Disorders of Sex Development due to the Fourth Zinc Finger Domain Variant of WT1: A Familial Case Report. Sex Dev. 2023; 17 (1): 51-55. ( PubMed , DOI )

Kato Daiki, Mitsuhashi Satomi, Miya Fuyuki, Saitoh Shinji, Okamoto Nobuhiko, Tsunoda Tatsuhiko, Kochi Yuta: Mendel遺伝病における遺伝子の優先順位付けに、組織特異的遺伝子発現スコアの有用性(Utility of tissue-specific gene expression scores for gene prioritization in Mendelian diseases) Journal of Human Genetics. 2022.12; 67 (12): 739-742. ( 医中誌 )

Kazuhiro Watanabe, Atsumi Tsuji-Hosokawa, Atsuko Hashimoto, Kaoru Konishi, Nobuyuki Ishige, Harumi Yajima, Akito Sutani, Hisae Nakatani, Maki Gau, Kei Takasawa, Toshihiro Tajima, Tomonobu Hasegawa, Tomohiro Morio, Kenichi Kashimada: The High Relevance of 21-Deoxycortisol, (Androstenedione + 17α-Hydroxyprogesterone)/Cortisol, and 11-Deoxycortisol/17α-Hydroxyprogesterone for Newborn Screening of 21-Hydroxylase Deficiency. J Clin Endocrinol Metab. 2022.11; 107 (12): 3341-3352. ( PubMed , DOI )

Kirino S, Suzuki M, Ogawa T, Takasawa K, Adachi E, Gau M, Takahashi K, Ikeno M, Yamada M, Suzuki H, Kosaki K, Moriyama K, Yoshida M, Morio T, Kashimada K: Clinical report: Chronic liver dysfunction in an individual with an AMOTL1 variant. European Journal of Medical Genetics. 2022.11; 65 (11): 104623. ( PubMed , DOI )

Ishigaki K, Sakaue S, Terao C, Luo Y, Sonehara K, Yamaguchi K, Amariuta T, Too CL, Laufer VA, Scott IC, Viatte S, Takahashi M, Ohmura K, Murasawa A, Hashimoto M, Ito H, Hammoudeh M, Emadi SA, Masri BK, Halabi H, Badsha H, Uthman IW, Wu X, Lin L, Li T, Plant D, Barton A, Orozco G, Verstappen SMM, Bowes J, MacGregor AJ, Honda S, Koido M, Tomizuka K, Kamatani Y, Tanaka H, Tanaka E, Suzuki A, Maeda Y, Yamamoto K, Miyawaki S, Xie G, Zhang J, Amos CI, Keystone E, Wolbink G, van der Horst-Bruinsma I, Cui J, Liao KP, Carroll RJ, Lee HS, Bang SY, Siminovitch KA, de Vries N, Alfredsson L, Rantapää-Dahlqvist S, Karlson EW, Bae SC, Kimberly RP, Edberg JC, Mariette X, Huizinga T, Dieudé P, Schneider M, Kerick M, Denny JC, BioBank Japan Project, Matsuda K, Matsuo K, Mimori T, Matsuda F, Fujio K, Tanaka Y, Kumanogoh A, Traylor M, Lewis CM, Eyre S, Xu H, Saxena R, Arayssi T, Kochi Y, Ikari K, Harigai M, Gregersen PK, Yamamoto K, Louis Bridges S Jr, Padyukov L, Martin J, Klareskog L, Okada Y, Raychaudhuri S: Multi-ancestry genome-wide association analyses identify novel genetic mechanisms in rheumatoid arthritis. Nature genetics. 2022.11; 54 (11): 1640-1651. ( PubMed , DOI )

Kota Fujimoto, Daiki Hashimoto, Kenichi Kashimada, Shinji Kumegawa, Yuko Ueda, Taiju Hyuga, Tsuyoshi Hirashima, Norimitsu Inoue, Kentaro Suzuki, Isao Hara, Shinichi Asamura, Gen Yamada: A visualization system for erectile vascular dynamics. Front Cell Dev Biol. 2022.10; 10 1000342. ( PubMed , DOI )

Yohei Masunaga, Gen Nishimura, Koji Takahashi, Tomiyuki Hishiyama, Masatoshi Imamura, Kenichi Kashimada, Machiko Kadoya, Yoshinao Wada, Nobuhiko Okamoto, Daiju Oba, Hirofumi Ohashi, Mitsuru Ikeno, Yuko Sakamoto, Maki Fukami, Hirotomo Saitsu, Tsutomu Ogata: Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG). Sci Rep. 2022.10; 12 (1): 17079. ( PubMed , DOI )

Yamaguchi K, Ishigaki K, Suzuki A, Tsuchida Y, Tsuchiya H, Sumitomo S, Nagafuchi Y, Miya F, Tsunoda T, Shoda H, Fujio K, Yamamoto K, Kochi Y: Splicing QTL analysis focusing on coding sequences reveals mechanisms for disease susceptibility loci. Nature communications. 2022.08; 13 (1): 4659. ( PubMed , DOI )

Kato D, Mitsuhashi S, Miya F, Saitoh S, Okamoto N, Tsunoda T, Kochi Y: Utility of tissue-specific gene expression scores for gene prioritization in Mendelian diseases. Journal of human genetics. 2022.08; 67 (12): 739-742. ( PubMed , DOI )

Ryuichi Nakagawa, Kei Takasawa, Maki Gau, Atsumi Tsuji-Hosokawa, Hideya Kawaji, Yasuhiro Murakawa, Shuji Takada, Masashi Mikami, Satoshi Narumi, Maki Fukami, Rajini Sreenivasan, Tetsuo Maruyama, Elena J Tucker, Liang Zhao, Josephine Bowles, Andrew Sinclair, Peter Koopman, Yoshihide Hayashizaki, Tomohiro Morio, Kenichi Kashimada: Two ovarian candidate enhancers, identified by time series enhancer RNA analyses, harbor rare genetic variations identified in ovarian insufficiency. Hum Mol Genet. 2022.07; 31 (13): 2223-2235. ( PubMed , DOI )

Scofield RH, Lewis VM, Cavitt J, Kurien BT, Assassi S, Martin J, Gorlova O, Gregersen P, Lee A, Rider LG, O'Hanlon T, Rothwell S, Lilleker J, Myositis Genetics Consortium, Xiaoxi Liu., Kochi Y, Terao C, Igoe A, Stevens W, Sahhar J, Roddy J, Rischmueller M, Lester S, Proudman S, Chen S, Brown MA, Mayes MD, Lamb JA, Miller FW: 47XXY and 47XXX in Scleroderma and Myositis. ACR open rheumatology. 2022.06; 4 (6): 528-533. ( PubMed , DOI )

Iwasaki Y, Takeshima Y, Nakano M, Okubo M, Ota M, Suzuki A, Kochi Y, Okamura T, Endo T, Miki I, Sakurada K, Yamamoto K, Fujio K: Combined plasma metabolomic and transcriptomic analysis identify histidine as a biomarker and potential contributor in SLE pathogenesis. Rheumatology (Oxford, England). 2022.06; 62 (2): 905-913. ( PubMed , DOI )

Eto S, Nukui Y, Tsumura M, Nakagama Y, Kashimada K, Mizoguchi Y, Utsumi T, Taniguchi M, Sakura F, Noma K, Yoshida Y, Ohshimo S, Nagashima S, Okamoto K, Endo A, Imai K, Kanegane H, Ohnishi H, Hirata S, Sugiyama E, Shime N, Ito M, Ohge H, Kido Y, Bastard P, Casanova JL, Ohara O, Tanaka J, Morio T, Okada S: Neutralizing Type I Interferon Autoantibodies in Japanese Patients with Severe COVID-19. Journal of clinical immunology. 2022.06; 42 (7): 1360-1370. ( PubMed , DOI )

Kei Takasawa, Kenichi Kashimada: Toward Improving the Transition of Patients With Congenital Adrenal Hyperplasia From Pediatrics to Adult Healthcare in Japan. Front Pediatr. 2022.06; 10 936944. ( PubMed , DOI )

Yin X, Kim K, Suetsugu H, Bang SY, Wen L, Koido M, Ha E, Liu L, Sakamoto Y, Jo S, Leng RX, Otomo N, Kwon YC, Sheng Y, Sugano N, Hwang MY, Li W, Mukai M, Yoon K, Cai M, Ishigaki K, Chung WT, Huang H, Takahashi D, Lee SS, Wang M, Karino K, Shim SC, Zheng X, Miyamura T, Kang YM, Ye D, Nakamura J, Suh CH, Tang Y, Motomura G, Park YB, Ding H, Kuroda T, Choe JY, Li C, Niiro H, Park Y, Shen C, Miyamoto T, Ahn GY, Fei W, Takeuchi T, Shin JM, Li K, Kawaguchi Y, Lee YK, Wang YF, Amano K, Park DJ, Yang W, Tada Y, Lau YL, Yamaji K, Zhu Z, Shimizu M, Atsumi T, Suzuki A, Sumida T, Okada Y, Matsuda K, Matsuo K, Kochi Y, Japanese Research Committee on Idiopathic Osteonecrosis of the Femoral Head., Yamamoto K, Ohmura K, Kim TH, Yang S, Yamamoto T, Kim BJ, Shen N, Ikegawa S, Lee HS, Zhang X, Terao C, Cui Y, Bae SC: Biological insights into systemic lupus erythematosus through an immune cell-specific transcriptome-wide association study. Annals of the rheumatic diseases. 2022.05; 81 (9): 1273-80. ( PubMed , DOI )

Tomohiro Ishii, Kenichi Kashimada, Naoko Amano, Kei Takasawa, Akari Nakamura-Utsunomiya, Shuichi Yatsuga, Tokuo Mukai, Shinobu Ida, Mitsuhisa Isobe, Masaru Fukushi, Hiroyuki Satoh, Kaoru Yoshino, Michio Otsuki, Takuyuki Katabami, Toshihiro Tajima: Clinical guidelines for the diagnosis and treatment of 21-hydroxylase deficiency (2021 revision). Clin Pediatr Endocrinol. 2022.04; 31 (3): 116-143. ( PubMed , DOI )

Yusuke Noguchi, Atsuko Taki, Izumi Honda, Manabu Sugie, Tsunanori Shidei, Kazuyuki Ito, Haruka Iwata, Akira Koyama, Kaoru Okazaki, Masatoshi Kondo, Chikako Morioka, Kenichi Kashimada, Tomohiro Morio: Transcriptome analysis of umbilical cord mesenchymal stem cells revealed fetal programming due to chorioamnionitis Sci Rep. 2022.04; 12 (1): 6537. ( PubMed , DOI )

Takeshima Y, Iwasaki Y, Nakano M, Narushima Y, Ota M, Nagafuchi Y, Sumitomo S, Okamura T, Elkon K, Ishigaki K, Suzuki A, Kochi Y, Yamamoto K, Fujio K: Immune cell multiomics analysis reveals contribution of oxidative phosphorylation to B-cell functions and organ damage of lupus. Annals of the rheumatic diseases. 2022.03; 81 (6): 845-853. ( PubMed , DOI )

Shohei Eto, Yoko Nukui, Miyuki Tsumura, Yu Nakagama, Kenichi Kashimada, Yoko Mizoguchi, Takanori Utsumi, Maki Taniguchi, Fumiaki Sakura, Kosuke Noma, Yusuke Yoshida, Shinichiro Ohshimo, Shintaro Nagashima, Keisuke Okamoto, Akifumi Endo, Kohsuke Imai, Hirokazu Kanegane, Hidenori Ohnishi, Shintaro Hirata, Eiji Sugiyama, Nobuaki Shime, Masanori Ito, Hiroki Ohge, Yasutoshi Kido, Paul Bastard, Jean-Laurent Casanova, Junko Tanaka, Tomohiro Morio, Satoshi Okada: Neutralizing Type I Interferon Autoantibodies in Japanese Patients With Severe COVID-19 Res Sq. 2022.03; ( PubMed , DOI )

Honda S, Ikari K, Yano K, Terao C, Tanaka E, Harigai M, Kochi Y: Polygenic risk scores are associated with radiographic progression in patients with rheumatoid arthritis. Arthritis & rheumatology (Hoboken, N.J.). 2022.01; 74 (5): 791-800. ( PubMed , DOI )

Yusuke Noguchi, Tsunanori Shidei, Chikako Morioka, Kenichi Kashimada, Tomohiro Morio: A suspected case of heterotopic glia in an MM-twin discordant for anencephaly Pediatr Int. 2022.01; 64 (1): e15027. ( PubMed , DOI )

Teppei Ohkawa, Akira Nishimura, Kenjiro Kosaki, Yuki Aoki-Nogami, Daisuke Tomizawa, Kenichi Kashimada, Tomohiro Morio, Motohiro Kato, Shuki Mizutani, Masatoshi Takagi: PAX3/7-FOXO1 fusion-negative alveolar rhabdomyosarcoma in Schuurs-Hoeijmakers syndrome. J Hum Genet. 2022.01; 67 (1): 51-54. ( PubMed , DOI )

Ryosei Iemura, Shizuka Kirino, Akito Sutani, Kenichi Kashimada, Kei Takasawa: Autonomously functioning thyroid nodule due to a somatic TSHR mutation. Pediatr Int. 2022.01; 64 (1): e15157. ( PubMed , DOI )

Kenichi Kashimada: When to eat and sleep matters to children's health. Pediatr Int. 2022.01; 64 (1): e15063. ( PubMed , DOI )

Maki Gau, Ryota Suga, Atsushi Hijikata, Ayako Kashimada, Masatoshi Takagi, Ryuichi Nakagawa, Kei Takasawa, Tsuyoshi Shirai, Kenichi Kashimada, Tomohiro Morio: A novel variant of NR5A1, p.R350W implicates potential interactions with unknown co-factors or ligands. Front Endocrinol (Lausanne). 2022; 13 1033074. ( PubMed , DOI )

Suetsugu H, Kim K, Yamamoto T, Bang SY, Sakamoto Y, Shin JM, Sugano N, Kim JS, Mukai M, Lee YK, Ohmura K, Park DJ, Takahashi D, Ahn GY, Karino K, Kwon YC, Miyamura T, Kim J, Nakamura J, Motomura G, Kuroda T, Niiro H, Miyamoto T, Takeuchi T, Ikari K, Amano K, Tada Y, Yamaji K, Shimizu M, Atsumi T, Seki T, Tanaka Y, Kubo T, Hisada R, Yoshioka T, Yamazaki M, Kabata T, Kajino T, Ohta Y, Okawa T, Naito Y, Kaneuji A, Yasunaga Y, Ohzono K, Tomizuka K, Koido M, Matsuda K, Okada Y, Suzuki A, Kim BJ, Kochi Y, Lee HS, Ikegawa S, Bae SC, Terao C: Novel susceptibility loci for steroid-associated osteonecrosis of the femoral head in systemic lupus erythematosus. Human molecular genetics. 2021.12; 31 (7): 1082-1095. ( PubMed , DOI )

Kei Takasawa, Hirokazu Kanegane, Kenichi Kashimada, Tomohiro Morio: Endocrinopathies in Inborn Errors of Immunity Front Immunol. 2021.11; 12 786241. ( PubMed , DOI )

Yoko Saito, Kei Takasawa, Maki Gau, Takeru Yamauchi, Ryuichi Nakagawa, Yuichi Miyakawa, Akito Sutani, Atsumi Hosokawa-Tsuji, Shigeru Takishima, Yohei Matsubara, Tomohiro Morio, Kenichi Kashimada: Adrenal suppression and anthropometric data at two years of age was not influenced by the initial hydrocortisone dose in patients with 21-hydroxylase deficiency. Clin Pediatr Endocrinol. 2021.10; 30 (4): 155-161. ( PubMed , DOI )

Otomo N, Lu HF, Koido M, Kou I, Takeda K, Momozawa Y, Kubo M, Kamatani Y, Ogura Y, Takahashi Y, Nakajima M, Minami S, Uno K, Kawakami N, Ito M, Sato T, Watanabe K, Kaito T, Yanagida H, Taneichi H, Harimaya K, Taniguchi Y, Shigematsu H, Iida T, Demura S, Sugawara R, Fujita N, Yagi M, Okada E, Hosogane N, Kono K, Nakamura M, Chiba K, Kotani T, Sakuma T, Akazawa T, Suzuki T, Nishida K, Kakutani K, Tsuji T, Sudo H, Iwata A, Kaneko K, Inami S, Kochi Y, Chang WC, Matsumoto M, Watanabe K, Ikegawa S, Terao C: Polygenic Risk Score of Adolescent Idiopathic Scoliosis for Potential Clinical Use. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. 2021.08; 36 (8): 1481-1491. ( PubMed , DOI )

Hisae Nakatani, Kei Takasawa, Kenichi Kashimada, Akira Morimoto, Akihiro Oshiba, Masayuki Nagasawa: Central diabetes insipidus developing in a 6-year-old patient 4 years after the remission of unifocal bone Langerhans cell histiocytosis. Clin Pediatr Endocrinol. 2021.07; 30 (3): 149-153. ( PubMed , DOI )

Ohori S, Tsuburaya RS, Kinoshita M, Miyagi E, Mizuguchi T, Mitsuhashi S, Frith MC, Matsumoto N: Long-read whole-genome sequencing identified a partial MBD5 deletion in an exome-negative patient with neurodevelopmental disorder. Journal of human genetics. 2021.07; 66 (7): 697-705. ( PubMed , DOI )

Atsumi Tsuji-Hosokawa, Kenichi Kashimada: Thirty-Year Lessons from the Newborn Screening for Congenital Adrenal Hyperplasia (CAH) in Japan. Int J Neonatal Screen. 2021.06; 7 (3): 36. ( PubMed , DOI )

Kei Takasawa, Yuichi Miyakawa, Yoko Saito, Eriko Adachi, Tsunanori Shidei, Akito Sutani, Maki Gau, Ryuichi Nakagawa, Atsuko Taki, Kenichi Kashimada, Tomohiro Morio: Marked clinical heterogeneity in congenital hyperinsulinism due to a novel homozygous ABCC8 mutation. Clin Endocrinol (Oxf). 2021.06; 94 (6): 940-948. ( PubMed , DOI )

Tanaka N, Koido M, Suzuki A, Otomo N, Suetsugu H, Kochi Y, Tomizuka K, Momozawa Y, Kamatani Y, Biobank Japan Project., Ikegawa S, Yamamoto K, Terao C: Eight novel susceptibility loci and putative causal variants in atopic dermatitis. The Journal of allergy and clinical immunology. 2021.06; 148 (5): 1293-1306. ( PubMed , DOI )

Tsuji H, Ohmura K, Jin H, Naito R, Arase N, Kohyama M, Suenaga T, Sakakibara S, Kochi Y, Okada Y, Yamamoto K, Kikutani H, Morinobu A, Mimori T, Arase H: Anti-dsDNA antibodies recognize DNA presented on HLA class II molecules of systemic lupus erythematosus risk alleles. Arthritis & rheumatology (Hoboken, N.J.). 2021.06; 74 (1): 105-111. ( PubMed , DOI )

Kosugi Y, Uriu K, Suzuki N, Yamamoto K, Nagaoka S, Kimura I, Konno Y, Aso H, Willett BJ, Kobayashi T, Koyanagi Y, Ueda MT, Ito J, Sato K: Comprehensive Investigation on the Interplay between Feline APOBEC3Z3 Proteins and Feline Immunodeficiency Virus Vif Proteins. Journal of virology. 2021.06; 95 (13): e0017821. ( PubMed , DOI )

Singh B, Maiti GP, Zhou X, Fazel-Najafabadi M, Bae SC, Sun C, Terao C, Okada Y, Chua KH, Kochi Y, Guthridge JM, Zhang H, Weirauch M, James JA, Harley JB, Varshney GK, Looger LL, Nath SK: Lupus susceptibility region containing CDKN1B rs34330 mechanistically influences expression and function of multiple target genes, also linked to proliferation and apoptosis. Arthritis & rheumatology (Hoboken, N.J.). 2021.05; 73 (12): 2303-2313. ( PubMed , DOI )

Ota M, Nagafuchi Y, Hatano H, Ishigaki K, Terao C, Takeshima Y, Yanaoka H, Kobayashi S, Okubo M, Shirai H, Sugimori Y, Maeda J, Nakano M, Yamada S, Yoshida R, Tsuchiya H, Tsuchida Y, Akizuki S, Yoshifuji H, Ohmura K, Mimori T, Yoshida K, Kurosaka D, Okada M, Setoguchi K, Kaneko H, Ban N, Yabuki N, Matsuki K, Mutoh H, Oyama S, Okazaki M, Tsunoda H, Iwasaki Y, Sumitomo S, Shoda H, Kochi Y, Okada Y, Yamamoto K, Okamura T, Fujio K: Dynamic landscape of immune cell-specific gene regulation in immune-mediated diseases. Cell. 2021.05; 184 (11): 3006-3021.e17. ( PubMed , DOI )

Matsuzawa Ayumi, Lee Jiyoung, Nakagawa So, Itoh Johbu, Takahashi Ueda Mahoko, Mitsuhashi Satomi, Kochi Yuta, Kaneko-Ishino Tomoko, Ishino Fumitoshi: HERV-Derived Ervpb1 Is Conserved in Simiiformes, Exhibiting Expression in Hematopoietic Cell Lineages Including Macrophages INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2021.05; 22 (9): ( PubMed , DOI )

Keisuke Nagasaki, Akie Nakamura, Takeru Yamauchi, Hotaka Kamasaki, Yosuke Hara, Junko Kanno, Satomi Koyama, Yoshiaki Ohtsu, Ikuko Takahashi, Shigeru Suzuki, Kenichi Kashimada, Toshihiro Tajima: Investigation of TSH receptor blocking antibodies in childhood-onset atrophic autoimmune thyroiditis. Clin Pediatr Endocrinol. 2021.04; 30 (2): 79-84. ( PubMed , DOI )

Mitsuhashi Satomi, Nakagawa So, Sasaki-Honda Mitsuru, Sakurai Hidetoshi, Frith Martin C., Mitsuhashi Hiroaki: Nanopore direct RNA sequencing detects DUX4-activated repeats and isoforms in human muscle cells HUMAN MOLECULAR GENETICS. 2021.04; 30 (7): 552-563. ( PubMed , DOI )

Mizuguchi Takeshi, Toyota Tomoko, Miyatake Satoko, Mitsuhashi Satomi, Doi Hiroshi, Kudo Yosuke, Kishida Hitaru, Hayashi Noriko, Tsuburaya Rie S., Kinoshita Masako, Fukuyama Tetsuhiro, Fukuda Hiromi, Koshimizu Eriko, Tsuchida Naomi, Uchiyama Yuri, Fujita Atsushi, Takata Atsushi, Miyake Noriko, Kato Mitsuhiro, Tanaka Fumiaki, Adachi Hiroaki, Matsumoto Naomichi: Complete sequencing of expanded SAMD12 repeats by long-read sequencing and Cas9-mediated enrichment BRAIN. 2021.04; 144 (4): 1103-1117. ( PubMed , DOI )

Kadowaki S, Hashimoto K, Nishimura T, Kashimada K, Kadowaki T, Kawamoto N, Imai K, Okada S, Kanegane H, Ohnishi H.: Functional analysis of novel A20 variants in patients with atypical inflammatory diseases. Arthritis Res Ther. 2021.02; 23 (1): 52. ( PubMed , DOI )

Hirofumi Haraguchi, Miyuki Harada, Kenichi Kashimada, Reiko Horikawa, Hideya Sakakibara, Makio Shozu, Tomoyuki Fujii, Yutaka Osuga, Koji Kugu: National survey of primary amenorrhea and relevant conditions in Japan. J Obstet Gynaecol Res. 2021.02; 47 (2): 774-777. ( PubMed , DOI )

Kenichi Kashimada: The flash glucose monitoring system is useful but has some limitations. Pediatr Int. 2021.02; 63 (2): 129. ( PubMed , DOI )

Chikuma S, Yamanaka S, Nakagawa S, Ueda MT, Hayabuchi H, Tokifuji Y, Kanayama M, Okamura T, Arase H, Yoshimura A: TRIM28 Expression on Dendritic Cells Prevents Excessive T Cell Priming by Silencing Endogenous Retrovirus. Journal of immunology (Baltimore, Md. : 1950). 2021.02; 206 (7): 1528-1539. ( PubMed , DOI )

Inamo J, Kochi Y, Takeuchi T: Is type 2 diabetes mellitus an inverse risk factor for the development of rheumatoid arthritis? Journal of human genetics. 2021.02; 66 (2): 219-223. ( PubMed , DOI )

Maki Gau, Kaoru Konishi, Kei Takasawa, Ryuichi Nakagawa, Atsumi Tsuji-Hosokawa, Atsuko Hashimoto, Akito Sutani, Toshihiro Tajima, Tomonobu Hasegawa, Tomohiro Morio, Kenichi Kashimada: The progression of salt-wasting and the body weight change during the first 2 weeks of life in classical 21-hydroxylase deficiency patients. Clin Endocrinol (Oxf). 2021.02; 94 (2): 229-236. ( PubMed , DOI )

Inamo Jun, Kochi Yuta, Takeuchi Tsutomu: 2型糖尿病は関節リウマチ発症の逆危険因子であるか(Is type 2 diabetes mellitus an inverse risk factor for the development of rheumatoid arthritis?) Journal of Human Genetics. 2021.02; 66 (2): 219-223. ( 医中誌 )

Bing N, Zhou H, Chen X, Hirose T, Kochi Y, Tsuchida Y, Ishigaki K, Sumitomo S, Fujio K, Zhang B, Valdez H, Vincent MS, Martin D, Clark JD: Contribution of a European-Prevalent Variant near CD83 and an East Asian-Prevalent Variant near IL17RB to Herpes Zoster Risk in Tofacitinib Treatment: Results of Genome-Wide Association Study Meta-Analyses. Arthritis & rheumatology (Hoboken, N.J.). 2021.01; 73 (7): 1155-1166. ( PubMed , DOI )

Mitsuhashi S, Frith MC, Matsumoto N: Genome-wide survey of tandem repeats by nanopore sequencing shows that disease-associated repeats are more polymorphic in the general population. BMC medical genomics. 2021.01; 14 (1): 17. ( PubMed , DOI )

Chiho Sugisawa, Makoto Ono, Kenichi Kashimada, Tomonobu Hasegawa, Satoshi Narumi: Inactivation of a Frameshift TSH Receptor Variant Val711Phefs*18 is Due to Acquisition of a Hydrophobic Degron. J Clin Endocrinol Metab. 2021.01; 106 (1): e265-e272. ( PubMed , DOI )

Frith MC, Mitsuhashi S, Katoh K: lamassemble: Multiple Alignment and Consensus Sequence of Long Reads. Methods in molecular biology (Clifton, N.J.). 2021; 2231 135-145. ( PubMed , DOI )

Hirabayashi A, Yahara K, Mitsuhashi S, Nakagawa S, Imanishi T, Ha VTT, Nguyen AV, Nguyen ST, Shibayama K, Suzuki M: Plasmid analysis of NDM metallo-β-lactamase-producing Enterobacterales isolated in Vietnam. PloS one. 2021; 16 (7): e0231119. ( PubMed , DOI )

Yin X, Kim K, Suetsugu H, Bang SY, Wen L, Koido M, Ha E, Liu L, Sakamoto Y, Jo S, Leng RX, Otomo N, Laurynenka V, Kwon YC, Sheng Y, Sugano N, Hwang MY, Li W, Mukai M, Yoon K, Cai M, Ishigaki K, Chung WT, Huang H, Takahashi D, Lee SS, Wang M, Karino K, Shim SC, Zheng X, Miyamura T, Kang YM, Ye D, Nakamura J, Suh CH, Tang Y, Motomura G, Park YB, Ding H, Kuroda T, Choe JY, Li C, Niiro H, Park Y, Shen C, Miyamoto T, Ahn GY, Fei W, Takeuchi T, Shin JM, Li K, Kawaguchi Y, Lee YK, Wang Y, Amano K, Park DJ, Yang W, Tada Y, Yamaji K, Shimizu M, Atsumi T, Suzuki A, Sumida T, Okada Y, Matsuda K, Matsuo K, Kochi Y, Japanese Research Committee on Idiopathic Osteonecrosis of the Femoral Head., Kottyan LC, Weirauch MT, Parameswaran S, Eswar S, Salim H, Chen X, Yamamoto K, Harley JB, Ohmura K, Kim TH, Yang S, Yamamoto T, Kim BJ, Shen N, Ikegawa S, Lee HS, Zhang X, Terao C, Cui Y, Bae SC: Meta-analysis of 208370 East Asians identifies 113 susceptibility loci for systemic lupus erythematosus. Annals of the rheumatic diseases. 2020.12; 80 (5): 632-640. ( PubMed , DOI )

Nozomi Matsuda, Kei Takasawa, Yasuhisa Ohata, Shigeru Takishima, Takuo Kubota, Yasuki Ishihara, Makoto Fujiwara, Erika Ogawa, Tomohiro Morio, Kenichi Kashimada, Keiichi Ozono: Potential pathological role of single nucleotide polymorphism (c.787T>C) in alkaline phosphatase (ALPL) for the phenotypes of hypophosphatasia Endocr. J.. 2020.12; 67 (12): 1227-1232. ( PubMed , DOI )

Hiromoto Y, Azuma Y, Suzuki Y, Hoshina M, Uchiyama Y, Mitsuhashi S, Miyatake S, Mizuguchi T, Takata A, Miyake N, Kato M, Matsumoto N: Hemizygous FLNA variant in West syndrome without periventricular nodular heterotopia. Human genome variation. 2020.12; 7 (1): 43. ( PubMed , DOI )

Tomohiro Ishii, Toshihiro Tajima, Kenichi Kashimada, Tokuo Mukai, Yusuke Tanahashi, Noriyuki Katsumata, Junko Kanno, Takashi Hamajima, Kenichi Miyako, Shinobu Ida, Tomonobu Hasegawa: Clinical features of 57 patients with lipoid congenital adrenal hyperplasia: criteria for nonclassic form revisited. J Clin Endocrinol Metab. 2020.11; 105 (11): dgaa557. ( PubMed , DOI )

Tsuchiya H, Ota M, Sumitomo S, Ishigaki K, Suzuki A, Sakata T, Tsuchida Y, Inui H, Hirose J, Kochi Y, Kadono Y, Shirahige K, Tanaka S, Yamamoto K, Fujio K: Parsing multiomics landscape of activated synovial fibroblasts highlights drug targets linked to genetic risk of rheumatoid arthritis. Annals of the rheumatic diseases. 2020.11; 80 (4): 440-450. ( PubMed , DOI )

Aoi H, Mizuguchi T, Suzuki T, Makino S, Yamamoto Y, Takeda J, Maruyama Y, Seyama R, Takeuchi S, Uchiyama Y, Azuma Y, Hamanaka K, Fujita A, Koshimizu E, Miyatake S, Mitsuhashi S, Takata A, Miyake N, Takeda S, Itakura A, Matsumoto N: Whole exome sequencing of fetal structural anomalies detected by ultrasonography. Journal of human genetics. 2020.11; ( PubMed , DOI )

Takeru Yamauchi, Masatoshi Imamura, Kei Takasawa, Keisuke Nakajima, Ryuichi Nakagawa, Maki Gau, Manabu Sugie, Atsuko Taki, Masahiko Kawai, Kenichi Kashimada, Tomohiro Morio: Prematurity at less than 24 weeks of gestation is a risk for prolonged hyperglycemia in extremely low-birth weight infants Endocrine. 2020.10; 70 (1): 71-77. ( PubMed , DOI )

Sakamoto M, Iwama K, Sekiguchi F, Mashimo H, Kumada S, Ishigaki K, Okamoto N, Behnam M, Ghadami M, Koshimizu E, Miyatake S, Mitsuhashi S, Mizuguchi T, Takata A, Saitsu H, Miyake N, Matsumoto N: Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy. Journal of human genetics. 2020.10; ( PubMed , DOI )

Sakamoto M, Kouhei D, Haniffa M, Silva S, Troncoso M, Santander P, Schonstedt V, Stecher X, Okamoto N, Hamanaka K, Mizuguchi T, Mitsuhashi S, Miyake N, Matsumoto N: A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction. Journal of human genetics. 2020.09; 65 (9): 751-757. ( PubMed , DOI )

Nakano Y, Yamamoto K, Ueda MT, Soper A, Konno Y, Kimura I, Uriu K, Kumata R, Aso H, Misawa N, Nagaoka S, Shimizu S, Mitsumune K, Kosugi Y, Juarez-Fernandez G, Ito J, Nakagawa S, Ikeda T, Koyanagi Y, Harris RS, Sato K: A role for gorilla APOBEC3G in shaping lentivirus evolution including transmission to humans. PLoS pathogens. 2020.09; 16 (9): e1008812. ( PubMed , DOI )

Aoi H, Lei M, Mizuguchi T, Nishioka N, Goto T, Miyama S, Suzuki T, Iwama K, Uchiyama Y, Mitsuhashi S, Itakura A, Takeda S, Matsumoto N: Retraction Note to: Nonsense variants in STAG2 result in distinct sex-dependent phenotypes. Journal of human genetics. 2020.09; 65 (9): 811. ( PubMed , DOI )

Doi H, Okubo M, Fukai R, Fujita A, Mitsuhashi S, Takahashi K, Kunii M, Tada M, Fukuda H, Mizuguchi T, Miyatake S, Miyake N, Sone J, Sobue G, Takeuchi H, Matsumoto N, Tanaka F: Reply to "GGC Repeat Expansion of NOTCH2NLC is Rare in European Leukoencephalopathy". Annals of neurology. 2020.09; 88 (3): 642-643. ( PubMed , DOI )

Nakashima M, Kato M, Matsukura M, Kira R, Ngu LH, Lichtenbelt KD, van Gassen KLI, Mitsuhashi S, Saitsu H, Matsumoto N: De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms. Journal of human genetics. 2020.09; 65 (9): 727-734. ( PubMed , DOI )

Ueda Mahoko Takahashi, Kryukov Kirill, Mitsuhashi Satomi, Mitsuhashi Hiroaki, Imanishi Tadashi, Nakagawa So: Comprehensive genomic analysis reveals dynamic evolution of endogenous retroviruses that code for retroviral-like protein domains MOBILE DNA. 2020.09; 11 (1): 29. ( PubMed , DOI )

Lei M, Liang D, Yang Y, Mitsuhashi S, Katoh K, Miyake N, Frith MC, Wu L, Matsumoto N: Long-read DNA sequencing fully characterized chromothripsis in a patient with Langer-Giedion syndrome and Cornelia de Lange syndrome-4. Journal of human genetics. 2020.08; 65 (8): 667-674. ( PubMed , DOI )

Mitsuhashi S, Ohori S, Katoh K, Frith MC, Matsumoto N: A pipeline for complete characterization of complex germline rearrangements from long DNA reads. Genome medicine. 2020.07; 12 (1): 67. ( PubMed , DOI )

Kryukov Kirill, Ueda Mahoko Takahashi, Nakagawa So, Imanishi Tadashi: Sequence Compression Benchmark (SCB) database-A comprehensive evaluation of reference-free compressors for FASTA-formatted sequences GIGASCIENCE. 2020.07; 9 (7): ( PubMed , DOI )

Oka A, Takagi A, Komiyama E, Yoshihara N, Mano S, Hosomichi K, Suzuki S, Haida Y, Motosugi N, Hatanaka T, Kimura M, Ueda MT, Nakagawa S, Miura H, Ohtsuka M, Tanaka M, Komiyama T, Otomo A, Hadano S, Mabuchi T, Beck S, Inoko H, Ikeda S: Alopecia areata susceptibility variant in MHC region impacts expressions of genes contributing to hair keratinization and is involved in hair loss. EBioMedicine. 2020.07; 57 102810. ( PubMed , DOI )

Nakano Y, Komiya C, Shimizu H, Mishima H, Shiba K, Tsujimoto K, Ikeda K, Kashimada K, Dateki S, Yoshiura KI, Ogawa Y, Yamada T: A case of ezetimibe-effective hypercholesterolemia with a novel heterozygous variant in ABCG5. Endocrine Journal. 2020.07; 67 (11): 1099-1105. ( PubMed , DOI )

Itai T, Miyatake S, Taguri M, Nozaki F, Ohta M, Osaka H, Morimoto M, Tandou T, Nohara F, Takami Y, Yoshioka F, Shimokawa S, Okuno-Yuguchi J, Motobayashi M, Takei Y, Fukuyama T, Kumada S, Miyata Y, Ogawa C, Maki Y, Togashi N, Ishikura T, Kinoshita M, Mitani Y, Kanemura Y, Omi T, Ando N, Hattori A, Saitoh S, Kitai Y, Hirai S, Arai H, Ishida F, Taniguchi H, Kitabatake Y, Ozono K, Nabatame S, Smigiel R, Kato M, Tanda K, Saito Y, Ishiyama A, Noguchi Y, Miura M, Nakano T, Hirano K, Honda R, Kuki I, Takanashi JI, Takeuchi A, Fukasawa T, Seiwa C, Harada A, Yachi Y, Higashiyama H, Terashima H, Kumagai T, Hada S, Abe Y, Miyagi E, Uchiyama Y, Fujita A, Imagawa E, Azuma Y, Hamanaka K, Koshimizu E, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Tsurusaki Y, Doi H, Nakashima M, Saitsu H, Matsumoto N: Prenatal clinical manifestations in individuals with COL4A1/2 variants. Journal of medical genetics. 2020.07; ( PubMed , DOI )

Ishigaki K, Akiyama M, Kanai M, Takahashi A, Kawakami E, Sugishita H, Sakaue S, Matoba N, Low SK, Okada Y, Terao C, Amariuta T, Gazal S, Kochi Y, Horikoshi M, Suzuki K, Ito K, Koyama S, Ozaki K, Niida S, Sakata Y, Sakata Y, Kohno T, Shiraishi K, Momozawa Y, Hirata M, Matsuda K, Ikeda M, Iwata N, Ikegawa S, Kou I, Tanaka T, Nakagawa H, Suzuki A, Hirota T, Tamari M, Chayama K, Miki D, Mori M, Nagayama S, Daigo Y, Miki Y, Katagiri T, Ogawa O, Obara W, Ito H, Yoshida T, Imoto I, Takahashi T, Tanikawa C, Suzuki T, Sinozaki N, Minami S, Yamaguchi H, Asai S, Takahashi Y, Yamaji K, Takahashi K, Fujioka T, Takata R, Yanai H, Masumoto A, Koretsune Y, Kutsumi H, Higashiyama M, Murayama S, Minegishi N, Suzuki K, Tanno K, Shimizu A, Yamaji T, Iwasaki M, Sawada N, Uemura H, Tanaka K, Naito M, Sasaki M, Wakai K, Tsugane S, Yamamoto M, Yamamoto K, Murakami Y, Nakamura Y, Raychaudhuri S, Inazawa J, Yamauchi T, Kadowaki T, Kubo M, Kamatani Y: Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases. Nature genetics. 2020.07; 52 (7): 669-679. ( PubMed , DOI )

Hamanaka K, Šikrová D, Mitsuhashi S, Masuda H, Sekiguchi Y, Sugiyama A, Shibuya K, Lemmers RJLF, Goossens R, Ogawa M, Nagao K, Obuse C, Noguchi S, Hayashi YK, Kuwabara S, Balog J, Nishino I, van der Maarel SM: Homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy. Neurology. 2020.06; 94 (23): e2441-e2447. ( PubMed , DOI )

Ohori S, Mitsuhashi S, Ben-Haim R, Heyman E, Sengoku T, Ogata K, Matsumoto N: A novel PAK1 variant causative of neurodevelopmental disorder with postnatal macrocephaly. Journal of human genetics. 2020.05; 65 (5): 481-485. ( PubMed , DOI )

Nakamura H, Doi H, Mitsuhashi S, Miyatake S, Katoh K, Frith MC, Asano T, Kudo Y, Ikeda T, Kubota S, Kunii M, Kitazawa Y, Tada M, Okamoto M, Joki H, Takeuchi H, Matsumoto N, Tanaka F: Long-read sequencing identifies the pathogenic nucleotide repeat expansion in RFC1 in a Japanese case of CANVAS. Journal of human genetics. 2020.05; 65 (5): 475-480. ( PubMed , DOI )

Shigeru Takishima, Tomotaka Kono, Kei Takasawa, Kenichi Kashimada, Hiroshi Mochizuki: Nocturnal enuresis is a possible symptom of pediatric paraganglioma: A case report. Clin Pediatr Endocrinol. 2020.04; 29 (2): 85-87. ( PubMed , DOI )

Otomo A, Ueda MT, Fujie T, Hasebe A, Suematsu Y, Okamura Y, Takeoka S, Hadano S, Nakagawa S: Efficient differentiation and polarization of primary cultured neurons on poly(lactic acid) scaffolds with microgrooved structures. Scientific reports. 2020.04; 10 (1): 6716. ( PubMed , DOI )

Hamanaka K, Imagawa E, Koshimizu E, Miyatake S, Tohyama J, Yamagata T, Miyauchi A, Ekhilevitch N, Nakamura F, Kawashima T, Goshima Y, Mohamed AR, Ch'ng GS, Fujita A, Azuma Y, Yasuda K, Imamura S, Nakashima M, Saitsu H, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Matsumoto N: De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy. American journal of human genetics. 2020.04; 106 (4): 549-558. ( PubMed , DOI )

Horibata Y, Mitsuhashi S, Shimizu H, Maejima S, Sakamoto H, Aoyama C, Ando H, Sugimoto H: The phosphatidylcholine transfer protein StarD7 is important for myogenic differentiation in mouse myoblast C2C12 cells and human primary skeletal myoblasts. Scientific reports. 2020.02; 10 (1): 2845. ( PubMed , DOI )

Sakaguchi S, Nakagawa S, Mitsuhashi S, Ogawa M, Sugiyama K, Tamukai K, Koide R, Katayama Y, Nakano T, Makino S, Imanishi T, Miyazawa T, Mizutani T: Molecular characterization of feline paramyxovirus in Japanese cat populations. Archives of virology. 2020.02; 165 (2): 413-418. ( PubMed , DOI )

Takahiro Fukaishi, Isao Minami, Seizaburo Masuda, Yasutaka Miyachi, Kazutaka Tsujimoto, Hajime Izumiyama, Koshi Hashimoto, Masayuki Yoshida, Sayako Takahashi, Kenichi Kashimada, Tomohiro Morio, Kenjiro Kosaki, Yoshiro Maezawa, Koutaro Yokote, Takanobu Yoshimoto, Tetsuya Yamada: A case of generalized lipodystrophy-associated progeroid syndrome treated by leptin replacement with short and long-term monitoring of the metabolic and endocrine profiles. Endocr. J.. 2020.02; 67 (2): 211-218. ( PubMed , DOI )

Akito Sutani, Hirohito Shima, Atsushi Hijikata, Susumu Hosokawa, Yuko Fukui, Kei Takasawa, Erina Suzuki, Shozaburou Doi, Tsuyoshi Shirai, Tomohiro Morio, Maki Fukami, Kenichi Kashimada: WDR11 is another causative gene for coloboma, cardiac anomaly and growth retardation in 10q26 deletion syndrome. Eur J Med Genet. 2020.01; 63 (1): 103626. ( PubMed , DOI )

Nadia Y Edelsztein, Kenichi Kashimada, Helena F Schteingart, Rodolfo A Rey: CYP26B1 declines postnatally in Sertoli cells independently of androgen action in the mouse testis. Mol. Reprod. Dev. 2020.01; 87 (1): 66-77. ( PubMed , DOI )

Mitsuhashi S, Matsumoto N: Long-read sequencing for rare human genetic diseases. Journal of human genetics. 2020.01; 65 (1): 11-19. ( PubMed , DOI )

Miyake N, Takahashi H, Nakamura K, Isidor B, Hiraki Y, Koshimizu E, Shiina M, Sasaki K, Suzuki H, Abe R, Kimura Y, Akiyama T, Tomizawa SI, Hirose T, Hamanaka K, Miyatake S, Mitsuhashi S, Mizuguchi T, Takata A, Obo K, Kato M, Ogata K, Matsumoto N: Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities. American journal of human genetics. 2020.01; 106 (1): 13-25. ( PubMed , DOI )

Aoyama C, Horibata Y, Ando H, Mitsuhashi S, Arai M, Sugimoto H: Correction: Characterization of glycerophosphodiesterase 4-interacting molecules Gαq/11 and Gβ, which mediate cellular lysophospholipase D activity. The Biochemical journal. 2020.01; 477 (2): 357. ( PubMed , DOI )

Aoi H, Lei M, Mizuguchi T, Nishioka N, Goto T, Miyama S, Suzuki T, Iwama K, Uchiyama Y, Mitsuhashi S, Itakura A, Takeda S, Matsumoto N: Nonsense variants of STAG2 result in distinct congenital anomalies. Human genome variation. 2020; 7 26. ( PubMed , DOI )

Okubo M, Doi H, Fukai R, Fujita A, Mitsuhashi S, Hashiguchi S, Kishida H, Ueda N, Morihara K, Ogasawara A, Kawamoto Y, Takahashi T, Takahashi K, Nakamura H, Kunii M, Tada M, Katsumoto A, Fukuda H, Mizuguchi T, Miyatake S, Miyake N, Suzuki J, Ito Y, Sone J, Sobue G, Takeuchi H, Matsumoto N, Tanaka F: GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy. Annals of neurology. 2019.12; 86 (6): 962-968. ( PubMed , DOI )

Sekiguchi F, Tsurusaki Y, Okamoto N, Teik KW, Mizuno S, Suzumura H, Isidor B, Ong WP, Haniffa M, White SM, Matsuo M, Saito K, Phadke S, Kosho T, Yap P, Goyal M, Clarke LA, Sachdev R, McGillivray G, Leventer RJ, Patel C, Yamagata T, Osaka H, Hisaeda Y, Ohashi H, Shimizu K, Nagasaki K, Hamada J, Dateki S, Sato T, Chinen Y, Awaya T, Kato T, Iwanaga K, Kawai M, Matsuoka T, Shimoji Y, Tan TY, Kapoor S, Gregersen N, Rossi M, Marie-Laure M, McGregor L, Oishi K, Mehta L, Gillies G, Lockhart PJ, Pope K, Shukla A, Girisha KM, Abdel-Salam GMH, Mowat D, Coman D, Kim OH, Cordier MP, Gibson K, Milunsky J, Liebelt J, Cox H, El Chehadeh S, Toutain A, Saida K, Aoi H, Minase G, Tsuchida N, Iwama K, Uchiyama Y, Suzuki T, Hamanaka K, Azuma Y, Fujita A, Imagawa E, Koshimizu E, Takata A, Mitsuhashi S, Miyatake S, Mizuguchi T, Miyake N, Matsumoto N: Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients. Journal of human genetics. 2019.12; 64 (12): 1173-1186. ( PubMed , DOI )

Aoyama C, Horibata Y, Ando H, Mitsuhashi S, Arai M, Sugimoto H: Characterization of glycerophosphodiesterase 4-interacting molecules Gαq/11 and Gβ, which mediate cellular lysophospholipase D activity. The Biochemical journal. 2019.12; 476 (24): 3721-3736. ( PubMed , DOI )

Takeru Yamauchi, Kei Takasawa, Takahiro Kamiya, Shizuka Kirino, Maki Gau, Kento Inoue, Akihiro Hoshino, Kenichi Kashimada, Hirokazu Kanegane, Tomohiro Morio: Hematopoietic stem cell transplantation recovers insulin deficiency in type 1 diabetes mellitus associated with IPEX syndrome. Pediatr Diabetes. 2019.11; 20 (7): 1035-1040. ( PubMed , DOI )

Ono Chisato, Kochi Yuta, Tanaka Shinya, Yamamoto Kazuhiko, Baba Yoshihiro: Systemic lupus erythematosus and other systemic autoimmune diseases　Role of Fcrl5 in B cell immune response and peripheral tolerance(和訳中) 日本免疫学会総会・学術集会記録. 2019.11; 48 (Proceedings): 2-B. ( 医中誌 )

Setsuko Hasegawa, Satoko Kumada, Naoyuki Tanuma, Atsumi Tsuji-Hosokawa, Ayako Kashimada, Tomoko Mizuno, Kengo Moriyama, Yuji Sugawara, Ikuko Shirai, Yohane Miyata, Hiroya Nishida, Hideaki Mashimo, Takeshi Hasegawa, Takatoshi Hosokawa, Hiroaki Hisakawa, Mitsugu Uematsu, Akio Fujine, Rie Miyata, Hiroshi Sakuma, Kenichi Kashimada, Kohsuke Imai, Tomohiro Morio, Masaharu Hayashi, Shuki Mizutani, Masatoshi Takagi: Long-Term Evaluation of Low-Dose Betamethasone for Ataxia Telangiectasia. Pediatr Neurol. 2019.11; 100 60-66. ( PubMed , DOI )

Sutani A, Miyakawa Y, Tsuji-Hosokawa A, Nomura R, Nakagawa R, Nakajima K, Maru M, Aoki Y, Takasawa K, Takagi M, Imai K, Kashimada K, Morio T: Gonadal failure among female patients after hematopoietic stem cell transplantation for non-malignant diseases. Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology. 2019.10; 28 (4): 105-112. ( PubMed , DOI )

Kryukov K, Ueda MT, Nakagawa S, Imanishi T: Nucleotide Archival Format (NAF) enables efficient lossless reference-free compression of DNA sequences. Bioinformatics (Oxford, England). 2019.10; 35 (19): 3826-3828. ( PubMed , DOI )

Den K, Kudo Y, Kato M, Watanabe K, Doi H, Tanaka F, Oguni H, Miyatake S, Mizuguchi T, Takata A, Miyake N, Mitsuhashi S, Matsumoto N: Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report. BMC neurology. 2019.10; 19 (1): 253. ( PubMed , DOI )

Maeda Y, Takasawa K, Ishii T, Nagashima A, Mouri M, Kunieda J, Morisaki H, Ito T, Mori M, Kashimada K, Doi S, Morio T: A Nonsense SMAD3 Mutation in a Girl with Familial Thoracic Aortic Aneurysm and Dissection without Joint Abnormality. Cardiology. 2019.10; 144 (1-2): 53-59. ( PubMed , DOI )

Aoi H, Mizuguchi T, Ceroni JR, Kim VEH, Furquim I, Honjo RS, Iwaki T, Suzuki T, Sekiguchi F, Uchiyama Y, Azuma Y, Hamanaka K, Koshimizu E, Miyatake S, Mitsuhashi S, Takata A, Miyake N, Takeda S, Itakura A, Bertola DR, Kim CA, Matsumoto N: Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome. Journal of human genetics. 2019.10; 64 (10): 967-978. ( PubMed , DOI )

Uchiyama Y, Kim CA, Pastorino AC, Ceroni J, Lima PP, de Barros Dorna M, Honjo RS, Bertola D, Hamanaka K, Fujita A, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Mizuguchi T, Matsumoto N: Primary immunodeficiency with chronic enteropathy and developmental delay in a boy arising from a novel homozygous RIPK1 variant. Journal of human genetics. 2019.09; 64 (9): 955-960. ( PubMed , DOI )

Saida K, Kim CA, Ceroni JRM, Bertola DR, Honjo RS, Mitsuhashi S, Takata A, Mizuguchi T, Miyatake S, Miyake N, Matsumoto N: Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP1. Journal of human genetics. 2019.09; 64 (9): 885-890. ( PubMed , DOI )

Den K, Kato M, Yamaguchi T, Miyatake S, Takata A, Mizuguchi T, Miyake N, Mitsuhashi S, Matsumoto N: A novel de novo frameshift variant in SETD1B causes epilepsy. Journal of human genetics. 2019.08; 64 (8): 821-827. ( PubMed , DOI )

Sone J, Mitsuhashi S, Fujita A, Mizuguchi T, Hamanaka K, Mori K, Koike H, Hashiguchi A, Takashima H, Sugiyama H, Kohno Y, Takiyama Y, Maeda K, Doi H, Koyano S, Takeuchi H, Kawamoto M, Kohara N, Ando T, Ieda T, Kita Y, Kokubun N, Tsuboi Y, Katoh K, Kino Y, Katsuno M, Iwasaki Y, Yoshida M, Tanaka F, Suzuki IK, Frith MC, Matsumoto N, Sobue G: Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease. Nature genetics. 2019.08; 51 (8): 1215-1221. ( PubMed , DOI )

Motegi T, Kochi Y, Matsuda K, Kubo M, Yamamoto K, Momozawa Y: Identification of rare coding variants in TYK2 protective for rheumatoid arthritis in the Japanese population and their effects on cytokine signalling. Annals of the rheumatic diseases. 2019.08; 78 (8): 1062-1069. ( PubMed , DOI )

Lei M, Mitsuhashi S, Miyake N, Ohta T, Liang D, Wu L, Matsumoto N: Translocation breakpoint disrupting the host SNHG14 gene but not coding genes or snoRNAs in typical Prader-Willi syndrome. Journal of human genetics. 2019.07; 64 (7): 647-652. ( PubMed , DOI )

Hamanaka K, Miyatake S, Koshimizu E, Tsurusaki Y, Mitsuhashi S, Iwama K, Alkanaq AN, Fujita A, Imagawa E, Uchiyama Y, Tawara N, Ando Y, Misumi Y, Okubo M, Nakashima M, Mizuguchi T, Takata A, Miyake N, Saitsu H, Iida A, Nishino I, Matsumoto N: RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy. Genetics in medicine : official journal of the American College of Medical Genetics. 2019.07; 21 (7): 1629-1638. ( PubMed , DOI )

Fujita A, Higashijima T, Shirozu H, Masuda H, Sonoda M, Tohyama J, Kato M, Nakashima M, Tsurusaki Y, Mitsuhashi S, Mizuguchi T, Takata A, Miyatake S, Miyake N, Fukuda M, Kameyama S, Saitsu H, Matsumoto N: Pathogenic variants of DYNC2H1, KIAA0556, and PTPN11 associated with hypothalamic hamartoma. Neurology. 2019.07; 93 (3): e237-e251. ( PubMed , DOI )

Hamanaka K, Takata A, Uchiyama Y, Miyatake S, Miyake N, Mitsuhashi S, Iwama K, Fujita A, Imagawa E, Alkanaq AN, Koshimizu E, Azuma Y, Nakashima M, Mizuguchi T, Saitsu H, Wada Y, Minami S, Katoh-Fukui Y, Masunaga Y, Fukami M, Hasegawa T, Ogata T, Matsumoto N: MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration. Human molecular genetics. 2019.07; 28 (14): 2319-2329. ( PubMed , DOI )

Tsuchida N, Kirino Y, Soejima Y, Onodera M, Arai K, Tamura E, Ishikawa T, Kawai T, Uchiyama T, Nomura S, Kobayashi D, Taguri M, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Nakajima H, Miyatake S, Matsumoto N: Haploinsufficiency of A20 caused by a novel nonsense variant or entire deletion of TNFAIP3 is clinically distinct from Behçet's disease. Arthritis research & therapy. 2019.06; 21 (1): 137. ( PubMed , DOI )

Iwama K, Mizuguchi T, Takeshita E, Nakagawa E, Okazaki T, Nomura Y, Iijima Y, Kajiura I, Sugai K, Saito T, Sasaki M, Yuge K, Saikusa T, Okamoto N, Takahashi S, Amamoto M, Tomita I, Kumada S, Anzai Y, Hoshino K, Fattal-Valevski A, Shiroma N, Ohfu M, Moroto M, Tanda K, Nakagawa T, Sakakibara T, Nabatame S, Matsuo M, Yamamoto A, Yukishita S, Inoue K, Waga C, Nakamura Y, Watanabe S, Ohba C, Sengoku T, Fujita A, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Ogata K, Ito S, Saitsu H, Matsuishi T, Goto YI, Matsumoto N: Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing. Journal of medical genetics. 2019.06; 56 (6): 396-407. ( PubMed , DOI )

Takata A, Nakashima M, Saitsu H, Mizuguchi T, Mitsuhashi S, Takahashi Y, Okamoto N, Osaka H, Nakamura K, Tohyama J, Haginoya K, Takeshita S, Kuki I, Okanishi T, Goto T, Sasaki M, Sakai Y, Miyake N, Miyatake S, Tsuchida N, Iwama K, Minase G, Sekiguchi F, Fujita A, Imagawa E, Koshimizu E, Uchiyama Y, Hamanaka K, Ohba C, Itai T, Aoi H, Saida K, Sakaguchi T, Den K, Takahashi R, Ikeda H, Yamaguchi T, Tsukamoto K, Yoshitomi S, Oboshi T, Imai K, Kimizu T, Kobayashi Y, Kubota M, Kashii H, Baba S, Iai M, Kira R, Hara M, Ohta M, Miyata Y, Miyata R, Takanashi JI, Matsui J, Yokochi K, Shimono M, Amamoto M, Takayama R, Hirabayashi S, Aiba K, Matsumoto H, Nabatame S, Shiihara T, Kato M, Matsumoto N: Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy. Nature communications. 2019.06; 10 (1): 2506. ( PubMed , DOI )

Aoi H, Lei M, Mizuguchi T, Nishioka N, Goto T, Miyama S, Suzuki T, Iwama K, Uchiyama Y, Mitsuhashi S, Itakura A, Takeda S, Matsumoto N: Nonsense variants in STAG2 result in distinct sex-dependent phenotypes. Journal of human genetics. 2019.05; 64 (5): 487-492. ( PubMed , DOI )

Mizuguchi T, Nakashima M, Moey LH, Ch'ng GS, Khoo TB, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Saitsu H, Matsumoto N: A novel homozygous truncating variant of NECAP1 in early infantile epileptic encephalopathy: the second case report of EIEE21. Journal of human genetics. 2019.04; 64 (4): 347-350. ( PubMed , DOI )

Risa Nomura, Kenichi Kashimada, Hitomi Suzuki, Liang Zhao, Atsumi Tsuji-Hosokawa, Hideo Yagita, Masatoshi Takagi, Yoshiakira Kanai, Josephine Bowles, Peter Koopman, Masami Kanai-Azuma, Tomohiro Morio: Nr5a1 suppression during the murine fetal period optimizes ovarian development by fine-tuning Notch signaling. J. Cell. Sci.. 2019.04; 132 (8): ( PubMed , DOI )

Akizuki S, Ishigaki K, Kochi Y, Law SM, Matsuo K, Ohmura K, Suzuki A, Nakayama M, Iizuka Y, Koseki H, Ohara O, Hirata J, Kamatani Y, Matsuda F, Sumida T, Yamamoto K, Okada Y, Mimori T, Terao C: PLD4 is a genetic determinant to systemic lupus erythematosus and involved in murine autoimmune phenotypes. Annals of the rheumatic diseases. 2019.04; 78 (4): 509-518. ( PubMed , DOI )

Okada Y, Eyre S, Suzuki A, Kochi Y, Yamamoto K: Genetics of rheumatoid arthritis: 2018 status. Annals of the rheumatic diseases. 2019.04; 78 (4): 446-453. ( PubMed , DOI )

Molineros JE, Looger LL, Kim K, Okada Y, Terao C, Sun C, Zhou XJ, Raj P, Kochi Y, Suzuki A, Akizuki S, Nakabo S, Bang SY, Lee HS, Kang YM, Suh CH, Chung WT, Park YB, Choe JY, Shim SC, Lee SS, Zuo X, Yamamoto K, Li QZ, Shen N, Porter LL, Harley JB, Chua KH, Zhang H, Wakeland EK, Tsao BP, Bae SC, Nath SK: Amino acid signatures of HLA Class-I and II molecules are strongly associated with SLE susceptibility and autoantibody production in Eastern Asians. PLoS genetics. 2019.04; 15 (4): e1008092. ( PubMed , DOI )

Hatano Hiroaki, Ota Mineto, Takeshima Yusuke, Iwasaki Yukiko, Nagafuchi Yasuo, Kochi Yuta, Shoda Hirofumi, Okamura Tomohisa, Fujio Keishi, Yamamoto Kazuhiko: 遺伝学　全身性エリテマトーデス(SLE)と関節リウマチ(RA)患者の末梢血単核球細胞(PBMCs)の多様な免疫細胞サブセットにおけるsplicing quantitative trait loci(sQTL)の影響に関する包括的研究(Genetics　A comprehensive study of splicing quantitative trait loci(sQTL) effects in various immune cell subsets in peripheral blood mononuclear cells(PBMCs) of systemic lupus erythematosus(SLE) and rheumatoid arthritis(RA) patients) 日本リウマチ学会総会・学術集会プログラム・抄録集. 2019.03; 63回 325. ( 医中誌 )

Kryukov K, Ueda MT, Imanishi T, Nakagawa S: Systematic survey of non-retroviral virus-like elements in eukaryotic genomes. Virus research. 2019.03; 262 30-36. ( PubMed , DOI )

Mitsuhashi S, Frith MC, Mizuguchi T, Miyatake S, Toyota T, Adachi H, Oma Y, Kino Y, Mitsuhashi H, Matsumoto N: Tandem-genotypes: robust detection of tandem repeat expansions from long DNA reads. Genome biology. 2019.03; 20 (1): 58. ( PubMed , DOI )

Saida K, Silva S, Solar B, Fujita A, Hamanaka K, Mitsuhashi S, Koshimizu E, Mizuguchi T, Miyatake S, Takata A, Miyake N, Matsumoto N: SOFT syndrome in a patient from Chile. American journal of medical genetics. Part A. 2019.03; 179 (3): 338-340. ( PubMed , DOI )

Miyakawa Yuichi, Takasawa Kei, Matsubara Yohei, Ihara Kenji, Ohtsu Yoshiaki, Kamasaki Hotaka, Kitsuda Kazuteru, Kobayashi Hironori, Satoh Mari, Sano Sinichiro, Dateki Sumito, Mochizuki Hiroshi, Yokota Ichiro, Hasegawa Yukihiro, Kashimada Kenichi: Language delay and developmental catch-up would be a clinical feature of pseudohypoparathyroidism type 1A during childhood. ENDOCRINE JOURNAL. 2019.03; 66 (3): 215-221. ( PubMed , DOI )

Hamanaka K, Sugawara Y, Shimoji T, Nordtveit TI, Kato M, Nakashima M, Saitsu H, Suzuki T, Yamakawa K, Aukrust I, Houge G, Mitsuhashi S, Takata A, Iwama K, Alkanaq A, Fujita A, Imagawa E, Mizuguchi T, Miyake N, Miyatake S, Matsumoto N: De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies. European journal of human genetics : EJHG. 2019.03; 27 (3): 378-383. ( PubMed , DOI )

Chen Y, Xi J, Zhu W, Lin J, Luo S, Yue D, Cai S, Sun C, Zhao C, Mitsuhashi S, Nishino I, Xu M, Lu J: Correction: GNE myopathy in Chinese population: hotspot and novel mutations. Journal of human genetics. 2019.03; 64 (3): 269. ( PubMed , DOI )

Kei Takasawa, Atsumi Tsuji-Hosokawa, Shigeru Takishima, Yasunori Wada, Keisuke Nagasaki, Sumito Dateki, Chikahiko Numakura, Atsushi Hijikata, Tsuyoshi Shirai, Kenichi Kashimada, Tomohiro Morio: Clinical characteristics of adolescent cases with type A insulin resistance syndrome caused by heterozygous mutations in the β-subunit of INSR. J Diabetes. 2019.01; 11 (1): 46-54. ( PubMed , DOI )

Chen Y, Xi J, Zhu W, Lin J, Luo S, Yue D, Cai S, Sun C, Zhao C, Mitsuhashi S, Nishino I, Xu M, Lu J: GNE myopathy in Chinese population: hotspot and novel mutations. Journal of human genetics. 2019.01; 64 (1): 11-16. ( PubMed , DOI )

Otani T, Noma H, Sugasawa S, Kuchiba A, Goto A, Yamaji T, Kochi Y, Iwasaki M, Matsui S, Tsunoda T: Exploring predictive biomarkers from clinical genome-wide association studies via multidimensional hierarchical mixture models. European journal of human genetics : EJHG. 2019.01; 27 (1): 140-149. ( PubMed , DOI )

Sasaki-Honda M, Jonouchi T, Arai M, Hotta A, Mitsuhashi S, Nishino I, Matsuda R, Sakurai H: A patient-derived iPSC model revealed oxidative stress increases facioscapulohumeral muscular dystrophy-causative DUX4. Human molecular genetics. 2018.12; 27 (23): 4024-4035. ( PubMed , DOI )

Uchiyama Y, Yanagisawa K, Kunishima S, Shiina M, Ogawa Y, Nakashima M, Hirato J, Imagawa E, Fujita A, Hamanaka K, Miyatake S, Mitsuhashi S, Takata A, Miyake N, Ogata K, Handa H, Matsumoto N, Mizuguchi T: A novel CYCS mutation in the α-helix of the CYCS C-terminal domain causes non-syndromic thrombocytopenia. Clinical genetics. 2018.12; 94 (6): 548-553. ( PubMed , DOI )

Tsuchida N, Hamada K, Shiina M, Kato M, Kobayashi Y, Tohyama J, Kimura K, Hoshino K, Ganesan V, Teik KW, Nakashima M, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Saitsu H, Ogata K, Miyatake S, Matsumoto N: GRIN2D variants in three cases of developmental and epileptic encephalopathy. Clinical genetics. 2018.12; 94 (6): 538-547. ( PubMed , DOI )

Hamanaka K, Miyatake S, Zerem A, Lev D, Blumkin L, Yokochi K, Fujita A, Imagawa E, Iwama K, Nakashima M, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Saitsu H, van der Knaap MS, Lerman-Sagie T, Matsumoto N: Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic. Journal of human genetics. 2018.12; 63 (12): 1223-1229. ( PubMed , DOI )

Miyatake S, Schneeberger S, Koyama N, Yokochi K, Ohmura K, Shiina M, Mori H, Koshimizu E, Imagawa E, Uchiyama Y, Mitsuhashi S, Frith MC, Fujita A, Satoh M, Taguri M, Tomono Y, Takahashi K, Doi H, Takeuchi H, Nakashima M, Mizuguchi T, Takata A, Miyake N, Saitsu H, Tanaka F, Ogata K, Hennet T, Matsumoto N: Biallelic COLGALT1 variants are associated with cerebral small vessel disease. Annals of neurology. 2018.12; 84 (6): 843-853. ( PubMed , DOI )

Terao C, Yoshifuji H, Matsumura T, Naruse TK, Ishii T, Nakaoka Y, Kirino Y, Matsuo K, Origuchi T, Shimizu M, Maejima Y, Amiya E, Tamura N, Kawaguchi T, Takahashi M, Setoh K, Ohmura K, Watanabe R, Horita T, Atsumi T, Matsukura M, Miyata T, Kochi Y, Suda T, Tanemoto K, Meguro A, Okada Y, Ogimoto A, Yamamoto M, Takahashi H, Nakayamada S, Saito K, Kuwana M, Mizuki N, Tabara Y, Ueda A, Komuro I, Kimura A, Isobe M, Mimori T, Matsuda F: Genetic determinants and an epistasis of LILRA3 and HLA-B*52 in Takayasu arteritis. Proceedings of the National Academy of Sciences of the United States of America. 2018.11; ( PubMed , DOI )

Sumitomo Shuji, Nagafuchi Yasuo, Tsuchida Yumi, Tsuchiya Haruka, Ota Mineto, Ishigaki Kazuyoshi, Suzuki Akari, Kochi Yuta, Fujio Keishi, Yamamoto Kazuhiko: 関節リウマチ患者末梢血のトランスクリプトーム解析　システマティックレビュー(Transcriptome analysis of peripheral blood from patients with rheumatoid arthritis: a systematic review) Inflammation and Regeneration. 2018.11; 38 (November): 1-5. ( 医中誌 )

Sato K, Otomo A, Ueda MT, Hiratsuka Y, Suzuki-Utsunomiya K, Sugiyama J, Murakoshi S, Mitsui S, Ono S, Nakagawa S, Shang HF, Hadano S: Altered oligomeric states in pathogenic ALS2 variants associated with juvenile motor neuron diseases cause loss of ALS2-mediated endosomal function. The Journal of biological chemistry. 2018.11; 293 (44): 17135-17153. ( PubMed , DOI )

Imagawa E, Albuquerque EVA, Isidor B, Mitsuhashi S, Mizuguchi T, Miyatake S, Takata A, Miyake N, Boguszewski MCS, Boguszewski CL, Lerario AM, Funari MA, Jorge AAL, Matsumoto N: Novel SUZ12 mutations in Weaver-like syndrome. Clinical genetics. 2018.11; 94 (5): 461-466. ( PubMed , DOI )

Saha M, Reddy HM, Salih MA, Estrella E, Jones MD, Mitsuhashi S, Cho KA, Suzuki-Hatano S, Rizzo SA, Hamad MH, Mukhtar MM, Hamed AA, Elseed MA, Lek M, Valkanas E, MacArthur DG, Kunkel LM, Pacak CA, Draper I, Kang PB: Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan. Physiological genomics. 2018.11; 50 (11): 929-939. ( PubMed , DOI )

Nagatsuma M, Takasawa K, Yamauchi T, Nakagawa R, Mizuno T, Tanaka E, Yamamoto K, Uemura N, Kashimada K, Morio T: A postzygotic KRAS mutation in a patient with Schimmelpenning syndrome presenting with lipomatosis, renovascular hypertension, and diabetes mellitus. Journal of human genetics. 2018.11; ( PubMed , DOI )

Iwama K, Osaka H, Ikeda T, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Ito S, Mizuguchi T, Matsumoto N: A novel SLC9A1 mutation causes cerebellar ataxia. Journal of human genetics. 2018.10; 63 (10): 1049-1054. ( PubMed , DOI )

Tsuchida Y, Sumitomo S, Ota M, Tsuchiya H, Nagafuchi Y, Shoda H, Fujio K, Ishigaki K, Yamaguchi K, Suzuki A, Kochi Y, Yamamoto K: Reduction of CD83 Expression on B Cells and the Genetic Basis for Rheumatoid Arthritis: Comment on the Article by Thalayasingam et al. Arthritis & rheumatology (Hoboken, N.J.). 2018.10; 70 (10): 1695-1696. ( PubMed , DOI )

Atsumi Tsuji-Hosokawa, Kenichi Kashimada, Tomoko Kato, Yuya Ogawa, Risa Nomura, Kei Takasawa, Rowena Lavery, Andrea Coschiera, David Schlessinger, Vincent R Harley, Shuji Takada, Tomohiro Morio: Peptidyl arginine deiminase 2 (Padi2) is expressed in Sertoli cells in a specific manner and regulated by SOX9 during testicular development. Sci Rep. 2018.09; 8 (1): 13263. ( PubMed , DOI )

Fujita R, Yoshioka K, Seko D, Suematsu T, Mitsuhashi S, Senoo N, Miura S, Nishino I, Ono Y: Zmynd17 controls muscle mitochondrial quality and whole-body metabolism. FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 2018.09; 32 (9): 5012-5025. ( PubMed , DOI )

三橋 里美, 中川 草, 上田 真保子, 今西 規, 三橋 弘明, フリス・マーティン : 筋機能と病態研究のフロンティア　ナノポアシークエンサーを用いたD4Z4リピートの解析 日本筋学会学術集会プログラム・抄録集. 2018.08; 4回 31. ( 医中誌 )

Miyatake S, Kato M, Sawaishi Y, Saito T, Nakashima M, Mizuguchi T, Mitsuhashi S, Takata A, Miyake N, Saitsu H, Matsumoto N: Recurrent SCN3A p.Ile875Thr variant in patients with polymicrogyria. Annals of neurology. 2018.07; 84 (1): 159-161. ( PubMed , DOI )

Sakurai K, Ishigaki K, Shoda H, Nagafuchi Y, Tsuchida Y, Sumitomo S, Kanda H, Suzuki A, Kochi Y, Yamamoto K, Fujio K: HLA-DRB1 Shared Epitope Alleles and Disease Activity Are Correlated with Reduced T Cell Receptor Repertoire Diversity in CD4+ T Cells in Rheumatoid Arthritis. The Journal of rheumatology. 2018.07; 45 (7): 905-914. ( PubMed , DOI )

Fukuda H, Imagawa E, Hamanaka K, Fujita A, Mitsuhashi S, Miyatake S, Mizuguchi T, Takata A, Miyake N, Kramer U, Matsumoto N, Fattal-Valevski A: A novel missense SNAP25b mutation in two affected siblings from an Israeli family showing seizures and cerebellar ataxia. Journal of human genetics. 2018.05; 63 (5): 673-676. ( PubMed , DOI )

Sumitomo S, Nagafuchi Y, Tsuchida Y, Tsuchiya H, Ota M, Ishigaki K, Nakachi S, Kato R, Sakurai K, Hanata N, Tateishi S, Kanda H, Suzuki A, Kochi Y, Fujio K, Yamamoto K: A gene module associated with dysregulated TCR signaling pathways in CD4⁺ T cell subsets in rheumatoid arthritis. Journal of autoimmunity. 2018.05; 89 21-29. ( PubMed , DOI )

Konno Y, Nagaoka S, Kimura I, Yamamoto K, Kagawa Y, Kumata R, Aso H, Ueda MT, Nakagawa S, Kobayashi T, Koyanagi Y, Sato K: New World feline APOBEC3 potently controls inter-genus lentiviral transmission. Retrovirology. 2018.04; 15 (1): 31. ( PubMed , DOI )

Mizuguchi T, Nakashima M, Kato M, Okamoto N, Kurahashi H, Ekhilevitch N, Shiina M, Nishimura G, Shibata T, Matsuo M, Ikeda T, Ogata K, Tsuchida N, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Hata K, Kaname T, Matsubara Y, Saitsu H, Matsumoto N: Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders. Human molecular genetics. 2018.04; 27 (8): 1421-1433. ( PubMed , DOI )

Kochi Y, Kamatani Y, Kondo Y, Suzuki A, Kawakami E, Hiwa R, Momozawa Y, Fujimoto M, Jinnin M, Tanaka Y, Kanda T, Cooper RG, Chinoy H, Rothwell S, Lamb JA, Vencovský J, Mann H, Ohmura K, Myouzen K, Ishigaki K, Nakashima R, Hosono Y, Tsuboi H, Kawasumi H, Iwasaki Y, Kajiyama H, Horita T, Ogawa-Momohara M, Takamura A, Tsunoda S, Shimizu J, Fujio K, Amano H, Mimori A, Kawakami A, Umehara H, Takeuchi T, Sano H, Muro Y, Atsumi T, Mimura T, Kawaguchi Y, Mimori T, Takahashi A, Kubo M, Kohsaka H, Sumida T, Yamamoto K: Splicing variant of WDFY4 augments MDA5 signalling and the risk of clinically amyopathic dermatomyositis. Annals of the rheumatic diseases. 2018.04; 77 (4): 602-611. ( PubMed , DOI )

Ryuichi Nakagawa, Atsumi Hosokawa-Tsuji, Yuki Aoki, Kei Takasawa, Mitsue Maru, Keisuke Nakajima, Akito Sutani, Yuichi Miyakawa, Daisuke Tomizawa, Kenichi Kashimada, Tomohiro Morio: Total body irradiation for hematopoietic stem cell transplantation during early childhood is associated with the risk for diabetes mellitus Endocrine. 2018.04; 61 (1): 76-82. ( PubMed , DOI )

Iwama K, Takaori T, Fukushima A, Tohyama J, Ishiyama A, Ohba C, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Ito S, Saitsu H, Mizuguchi T, Matsumoto N: Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy. Journal of human genetics. 2018.03; 63 (3): 263-270. ( PubMed , DOI )

Iwama K, Iwata A, Shiina M, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Ogata K, Ito S, Mizuguchi T, Matsumoto N: A novel mutation in SLC1A3 causes episodic ataxia. Journal of human genetics. 2018.02; 63 (2): 207-211. ( PubMed , DOI )

Kurosaki Y, Ueda MT, Nakano Y, Yasuda J, Koyanagi Y, Sato K, Nakagawa S: Different effects of two mutations on the infectivity of Ebola virus glycoprotein in nine mammalian species. The Journal of general virology. 2018.02; 99 (2): 181-186. ( PubMed , DOI )

Zhu W, Eto M, Mitsuhashi S, Takata K, Beck G, Sumi-Akamaru H, Mochizuki H, Sakoda S, Takahashi MP, Nishino I: GNE myopathy caused by a synonymous mutation leading to aberrant mRNA splicing. Neuromuscular disorders : NMD. 2018.02; 28 (2): 154-157. ( PubMed , DOI )

Ryuichi Nakagawa, Kei Takasawa, Tzu-Wen Yeh, Kohsuke Imai, Kenichi Kashimada, Tomohiro Morio: Type 1 Diabetes Mellitus Associated with Activated Phosphoinositide-3-kinase Delta Syndrome, Type 2. J Diabetes. 2018.02; 10 (5): 421-422. ( PubMed , DOI )

Kei Takasawa, Maki Igarashi, Makoto Ono, Akira Takemoto, Shuji Takada, Atsuyuki Yamataka, Tsutomu Ogata, Tomohiro Morio, Maki Fukami, Kenichi Kashimada: Phenotypic Variation in 46,XX Disorders of Sex Development due to the NR5A1 p.R92W Variant: A Sibling Case Report and Literature Review Sex Dev. 2018.01; 11 (5-6): 284-288. ( PubMed , DOI )

Matsuda Nozomi, Taki Atsuko, Tsuji Atsumi, Nakajima Keisuke, Takasawa Kei, Morioka Chikako, Minosaki Yoshihiro, Oku Kikuko, Kashimada Kenichi, Morio Tomohiro: 在胎週数の割に小さく産まれた超低出生体重児における3歳時点での成長と発達に影響を与える周産期要因(Perinatal factors affecting growth and development at age 3 years in extremely low birth weight infants born small for gestational age) Clinical Pediatric Endocrinology. 2018.01; 27 (1): 31-38. ( 医中誌 )

Ishigaki K, Kochi Y, Yamamoto K: Genetics of human autoimmunity: From genetic information to functional insights. Clinical immunology (Orlando, Fla.). 2018.01; 186 9-13. ( PubMed , DOI )

Matsuda N, Taki A, Tsuji A, Nakajima K, Takasawa K, Morioka C, Minosaki Y, Oku K, Kashimada K, Morio T: Perinatal factors affecting growth and development at age 3 years in extremely low birth weight infants born small for gestational age. Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology. 2018; 27 (1): 31-38. ( PubMed , DOI )

A naturally occurring feline APOBEC3 variant that loses anti-lentiviral activity by lacking two amino acid residues Journal of General Virology. 2018; 99 704-709.

Sumitomo S, Nagafuchi Y, Tsuchida Y, Tsuchiya H, Ota M, Ishigaki K, Suzuki A, Kochi Y, Fujio K, Yamamoto K: Transcriptome analysis of peripheral blood from patients with rheumatoid arthritis: a systematic review. Inflammation and regeneration. 2018; 38 21. ( PubMed , DOI )

Nishino J, Ochi H, Kochi Y, Tsunoda T, Matsui S: Sample Size for Successful Genome-Wide Association Study of Major Depressive Disorder. Frontiers in genetics. 2018; 9 227. ( PubMed , DOI )

Watanabe N, Kryukov K, Nakagawa S, Takeuchi JS, Takeshita M, Kirimura Y, Mitsuhashi S, Ishihara T, Aoki H, Inokuchi S, Imanishi T, Inoue S: Detection of pathogenic bacteria in the blood from sepsis patients using 16S rRNA gene amplicon sequencing analysis. PloS one. 2018; 13 (8): e0202049. ( PubMed , DOI )

Nishino J, Kochi Y, Shigemizu D, Kato M, Ikari K, Ochi H, Noma H, Matsui K, Morizono T, Boroevich KA, Tsunoda T, Matsui S: Empirical Bayes Estimation of Semi-parametric Hierarchical Mixture Models for Unbiased Characterization of Polygenic Disease Architectures. Frontiers in genetics. 2018; 9 115. ( PubMed , DOI )

Mori-Yoshimura M, Mitsuhashi S, Nakamura H, Komaki H, Goto K, Yonemoto N, Takeuchi F, Hayashi YK, Murata M, Takahashi Y, Nishino I, Takeda S, Kimura E: Characteristics of Japanese Patients with Becker Muscular Dystrophy and Intermediate Muscular Dystrophy in a Japanese National Registry of Muscular Dystrophy (Remudy): Heterogeneity and Clinical Variation. Journal of neuromuscular diseases. 2018; 5 (2): 193-203. ( PubMed , DOI )

Terao C, Okada Y, Ikari K, Kochi Y, Suzuki A, Ohmura K, Matsuo K, Taniguchi A, Kubo M, Raychaudhuri S, Yamamoto K, Yamanaka H, Kamatani Y, Mimori T, Matsuda F: Genetic landscape of interactive effects of HLA-DRB1 alleles on susceptibility to ACPA(+) rheumatoid arthritis and ACPA levels in Japanese population. Journal of medical genetics. 2017.12; 54 (12): 853-858. ( PubMed , DOI )

Nomura R, Miyai K, Nishimura G, Kashimada K, Morio T: Myhre syndrome: Age-dependent progressive phenotype Pediatrics International. 2017.11; 59 (11): 1205-1206.

Risa Nomura, Kentaro Miyai, Gen Nishimura, Kenichi Kashimada, Tomohiro Morio: Myhre syndrome: Age-dependent progressive phenotype Pediatr Int. 2017.11; 59 (11): 1205-1206. ( PubMed , DOI )

Mitsuhashi S, Nakagawa S, Takahashi Ueda M, Imanishi T, Frith MC, Mitsuhashi H: Nanopore-based single molecule sequencing of the D4Z4 array responsible for facioscapulohumeral muscular dystrophy. Scientific reports. 2017.11; 7 (1): 14789. ( PubMed , DOI )

Ishiyama A, Sakai C, Matsushima Y, Noguchi S, Mitsuhashi S, Endo Y, Hayashi YK, Saito Y, Nakagawa E, Komaki H, Sugai K, Sasaki M, Sato N, Nonaka I, Goto YI, Nishino I: IBA57 mutations abrogate iron-sulfur cluster assembly leading to cavitating leukoencephalopathy. Neurology. Genetics. 2017.10; 3 (5): e184. ( PubMed , DOI )

Kei Takasawa, Ryuichi Nakagawa, Shigeru Takishima, Kengo Moriyama, Ken Watanabe, Koji Kiyohara, Takeshi Hasegawa, Masahiro Shimohira, Kenichi Kashimada, Norio Shimizu, Tomohiro Morio: Cause of acute encephalitis/encephalopathy in Japanese children diagnosed by a rapid and comprehensive virological detection system and differences in their clinical presentations. Brain Dev. 2017.10; 40 (2): 107-115. ( PubMed , DOI )

Atsumi Tsuji-Hosokawa, Kei Takasawa, Risa Nomura, Yuichi Miyakawa, Chikahiko Numakura, Atsushi Hijikata, Tsuyoshi Shirai, Yoshihiro Ogawa, Kenichi Kashimada, Tomohiro Morio: Molecular mechanisms of insulin resistance in 2 cases of primary insulin receptor defect-associated diseases. Pediatr Diabetes. 2017.10; 18 (8): 917-924. ( PubMed , DOI )

Okubo M, Minami N, Goto K, Goto Y, Noguchi S, Mitsuhashi S, Nishino I: Corrigendum: Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations. Journal of human genetics. 2017.10; 62 (10): 931-933. ( PubMed , DOI )

Oka A, Asano Y, Hasegawa M, Fujimoto M, Ishikawa O, Kuwana M, Kawaguchi Y, Yamamoto T, Takahashi H, Goto D, Endo H, Jinnin M, Mano S, Hosomichi K, Mabuchi T, Ueda MT, Nakagawa S, Beck S, Bahram S, Takehara K, Sato S, Ihn H: RXRB Is an MHC-Encoded Susceptibility Gene Associated with Anti-Topoisomerase I Antibody-Positive Systemic Sclerosis. The Journal of investigative dermatology. 2017.09; 137 (9): 1878-1886. ( PubMed , DOI )

Horibata Y, Ando H, Satou M, Shimizu H, Mitsuhashi S, Shimizu Y, Itoh M, Sugimoto H: Identification of the N-terminal transmembrane domain of StarD7 and its importance for mitochondrial outer membrane localization and phosphatidylcholine transfer. Scientific reports. 2017.08; 7 (1): 8793. ( PubMed , DOI )

Akiko Tomioka, Mitsue Maru, Kenichi Kashimada, Hideya Sakakibara: Physical and social characteristics and support needs of adult female childhood cancer survivors who underwent hormone replacement therapy. Int. J. Clin. Oncol.. 2017.08; 22 (4): 786-792. ( PubMed , DOI )

Saha M, Mitsuhashi S, Jones MD, Manko K, Reddy HM, Bruels CC, Cho KA, Pacak CA, Draper I, Kang PB: Consequences of MEGF10 deficiency on myoblast function and Notch1 interactions. Human molecular genetics. 2017.08; 26 (15): 2984-3000. ( PubMed , DOI )

Okubo M, Goto K, Komaki H, Nakamura H, Mori-Yoshimura M, Hayashi YK, Mitsuhashi S, Noguchi S, Kimura E, Nishino I: Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan. Orphanet journal of rare diseases. 2017.08; 12 (1): 149. ( PubMed , DOI )

Ishigaki Kazuyoshi, Kochi Yuta, Suzuki Akari, Tsuchida Yumi, Tsuchiya Haruka, Sumitomo Shuji, Yamaguchi Kensuke, Nagafuchi Yasuo, Nakachi Shinichiro, Kato Rika, Sakurai Keiichi, Shoda Hirofumi, Ikari Katsunori, Taniguchi Atsuo, Yamanaka Hisashi, Miya Fuyuki, Tsunoda Tatsuhiko, Okada Yukinori, Momozawa Yukihide, Kamatani Yoichiro, Yamada Ryo, Kubo Michiaki, Fujio Keishi, Yamamoto Kazuhiko: Polygenic burdens on cell-specific pathways underlie the risk of rheumatoid arthritis NATURE GENETICS. 2017.07; 49 (7): 1120-+. ( PubMed , DOI )

Mitsuhashi S, Kryukov K, Nakagawa S, Takeuchi JS, Shiraishi Y, Asano K, Imanishi T: A portable system for rapid bacterial composition analysis using a nanopore-based sequencer and laptop computer. Scientific reports. 2017.07; 7 (1): 5657. ( PubMed , DOI )

Nitta T, Kochi Y, Muro R, Tomofuji Y, Okamura T, Murata S, Suzuki H, Sumida T, Yamamoto K, Takayanagi H: Human thymoproteasome variations influence CD8 T cell selection. Science immunology. 2017.06; 2 (12): ( PubMed , DOI )

Molineros JE, Yang W, Zhou XJ, Sun C, Okada Y, Zhang H, Heng Chua K, Lau YL, Kochi Y, Suzuki A, Yamamoto K, Ma J, Bang SY, Lee HS, Kim K, Bae SC, Zhang H, Shen N, Looger LL, Nath SK: Confirmation of five novel susceptibility loci for systemic lupus erythematosus (SLE) and integrated network analysis of 82 SLE susceptibility loci. Human molecular genetics. 2017.03; 26 (6): 1205-1216. ( PubMed , DOI )

Miki Murakoshi, Kei Takasawa, Masato Nishioka, Masahiro Asakawa, Kenichi Kashimada, Takanobu Yoshimoto, Toshiyuki Yamamoto, Kazuhiro Takekoshi, Yoshihiro Ogawa, Masayuki Shimohira: Abdominal paraganglioma in a young woman with 1p36 deletion syndrome. Am. J. Med. Genet. A. 2017.02; 173 (2): 495-500. ( PubMed , DOI )

Ueda MT, Kurosaki Y, Izumi T, Nakano Y, Oloniniyi OK, Yasuda J, Koyanagi Y, Sato K, Nakagawa S: Functional mutations in spike glycoprotein of Zaire ebolavirus associated with an increase in infection efficiency. Genes to cells : devoted to molecular & cellular mechanisms. 2017.02; 22 (2): 148-159. ( PubMed , DOI )

Reddy HM, Cho KA, Lek M, Estrella E, Valkanas E, Jones MD, Mitsuhashi S, Darras BT, Amato AA, Lidov HG, Brownstein CA, Margulies DM, Yu TW, Salih MA, Kunkel LM, MacArthur DG, Kang PB: The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. Journal of human genetics. 2017.02; 62 (2): 243-252. ( PubMed , DOI )

Nishikawa A, Mitsuhashi S, Miyata N, Nishino I: Targeted massively parallel sequencing and histological assessment of skeletal muscles for the molecular diagnosis of inherited muscle disorders. Journal of medical genetics. 2017.02; 54 (2): 104-110. ( PubMed , DOI )

Liang WC, Uruha A, Suzuki S, Murakami N, Takeshita E, Chen WZ, Jong YJ, Endo Y, Komaki H, Fujii T, Kawano Y, Mori-Yoshimura M, Oya Y, Xi J, Zhu W, Zhao C, Watanabe Y, Ikemoto K, Nishikawa A, Hamanaka K, Mitsuhashi S, Suzuki N, Nishino I: Pediatric necrotizing myopathy associated with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase antibodies. Rheumatology (Oxford, England). 2017.02; 56 (2): 287-293. ( PubMed , DOI )

Zhu W, Mitsuhashi S, Yonekawa T, Noguchi S, Huei JC, Nalini A, Preethish-Kumar V, Yamamoto M, Murakata K, Mori-Yoshimura M, Kamada S, Yahikozawa H, Karasawa M, Kimura S, Yamashita F, Nishino I: Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5'UTR and founder allele. Journal of human genetics. 2017.02; 62 (2): 159-166. ( PubMed , DOI )

Maki Igarashi, Kei Takasawa, Akiko Hakoda, Junko Kanno, Shuji Takada, Mami Miyado, Takashi Baba, Ken-Ichirou Morohashi, Toshihiro Tajima, Kenichiro Hata, Kazuhiko Nakabayashi, Yoichi Matsubara, Ryohei Sekido, Tsutomu Ogata, Kenichi Kashimada, Maki Fukami: Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues. Hum. Mutat.. 2017.01; 38 (1): 39-42. ( PubMed , DOI )

Atsumi Tsuji-Hosokawa, Nozomi Matsuda, Kenji Kurosawa, Kenichi Kashimada, Tomohiro Morio: A Case of MECP2 Duplication Syndrome with Gonadotropin-Dependent Precocious Puberty. Horm Res Paediatr. 2017.01; 87 (4): 217-216. ( PubMed , DOI )

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: Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy. American journal of human genetics. 2017.01; 100 (1): 169-178. ( PubMed , DOI )

Tsuchida Y, Sumitomo S, Ishigaki K, Suzuki A, Kochi Y, Tsuchiya H, Ota M, Komai T, Inoue M, Morita K, Okamura T, Yamamoto K, Fujio K: TGF-β3 Inhibits Antibody Production by Human B Cells. PloS one. 2017; 12 (1): e0169646. ( PubMed , DOI )

Shigeru Takishima, Keisuke Nakajima, Risa Nomura, Atsumi Tsuji-Hosokawa, Nozomi Matsuda, Yohei Matsubara, Makoto Ono, Kentaro Miyai, Kei Takasawa, Tomohiro Morio, Yukihiro Hasegawa, Kenichi Kashimada: Lower body weight and BMI at birth were associated with early adiposity rebound in 21-hydroxylase deficiency patients. Endocr. J.. 2016.11; 63 (11): 983-990. ( PubMed , DOI )

Termglinchan T, Hisamatsu S, Ohmori J, Suzumura H, Sumitomo N, Imataka G, Arisaka O, Murakami N, Minami N, Akihiko I, Sasaki M, Goto Y, Noguchi S, Nonaka I, Mitsuhashi S, Nishino I: Novel TK2 mutations as a cause of delayed muscle maturation in mtDNA depletion syndrome. Neurology. Genetics. 2016.10; 2 (5): e95. ( PubMed , DOI )

Reddy HM, Hamed SA, Lek M, Mitsuhashi S, Estrella E, Jones MD, Mahoney LJ, Duncan AR, Cho KA, Macarthur DG, Kunkel LM, Kang PB: Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt. Muscle & nerve. 2016.10; 54 (4): 690-5. ( PubMed , DOI )

Miyake N, Fukai R, Ohba C, Chihara T, Miura M, Shimizu H, Kakita A, Imagawa E, Shiina M, Ogata K, Okuno-Yuguchi J, Fueki N, Ogiso Y, Suzumura H, Watabe Y, Imataka G, Leong HY, Fattal-Valevski A, Kramer U, Miyatake S, Kato M, Okamoto N, Sato Y, Mitsuhashi S, Nishino I, Kaneko N, Nishiyama A, Tamura T, Mizuguchi T, Nakashima M, Tanaka F, Saitsu H, Matsumoto N: Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy. American journal of human genetics. 2016.10; 99 (4): 950-961. ( PubMed , DOI )

Takayama K, Mitsuhashi S, Shin JY, Tanaka R, Fujii T, Tsuburaya R, Mukaida S, Noguchi S, Nonaka I, Nishino I: Japanese multiple epidermal growth factor 10 (MEGF10) myopathy with novel mutations: A phenotype-genotype correlation. Neuromuscular disorders : NMD. 2016.09; 26 (9): 604-9. ( PubMed , DOI )

Hirohito Shima, Toshiaki Tanaka, Tsutomu Kamimaki, Sumito Dateki, Koji Muroya, Reiko Horikawa, Junko Kanno, Masanori Adachi, Yasuhiro Naiki, Hiroyuki Tanaka, Hiroyo Mabe, Hideaki Yagasaki, Shigeo Kure, Yoichi Matsubara, Toshihiro Tajima, Kenichi Kashimada, Tomohiro Ishii, Yumi Asakura, Ikuma Fujiwara, Shun Soneda, Keisuke Nagasaki, Takashi Hamajima, Susumu Kanzaki, Tomoko Jinno, Tsutomu Ogata, Maki Fukami, : Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis. J. Hum. Genet.. 2016.07; 61 (7): 585-591. ( PubMed , DOI )

Hamanaka K, Goto K, Arai M, Nagao K, Obuse C, Noguchi S, Hayashi YK, Mitsuhashi S, Nishino I: Corrigendum to "Clinical, muscle pathological, and genetic features of Japanese facioscapulohumeral muscular dystrophy 2 (FSHD2) patients with SMCHD1 mutations": [Neuromuscular Disorders 26/4-5 (2016) 300-308]. Neuromuscular disorders : NMD. 2016.07; 26 (7): 472. ( PubMed , DOI )

Kei Takasawa, Yuichi Miyakawa, Atsushi Masamune, Kenichi Kashimada, Masayuki Shimohira: Fibrocalculous pancreatic diabetes in a Japanese girl with severe motor and intellectual disabilities. Acta Diabetol. 2016.06; 53 (3): 507-510. ( PubMed , DOI )

Okubo M, Minami N, Goto K, Goto Y, Noguchi S, Mitsuhashi S, Nishino I: Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations. Journal of human genetics. 2016.06; 61 (6): 483-9. ( PubMed , DOI )

van den Boogaard ML, Lemmers RJLF, Balog J, Wohlgemuth M, Auranen M, Mitsuhashi S, van der Vliet PJ, Straasheijm KR, van den Akker RFP, Kriek M, Laurense-Bik MEY, Raz V, van Ostaijen-Ten Dam MM, Hansson KBM, van der Kooi EL, Kiuru-Enari S, Udd B, van Tol MJD, Nishino I, Tawil R, Tapscott SJ, van Engelen BGM, van der Maarel SM: Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy. American journal of human genetics. 2016.05; 98 (5): 1020-1029. ( PubMed , DOI )

Hamanaka K, Goto K, Arai M, Nagao K, Obuse C, Noguchi S, Hayashi YK, Mitsuhashi S, Nishino I: Clinical, muscle pathological, and genetic features of Japanese facioscapulohumeral muscular dystrophy 2 (FSHD2) patients with SMCHD1 mutations. Neuromuscular disorders : NMD. 2016.04; 26 (4-5): 300-8. ( PubMed , DOI )

Hamanaka K, Inami I, Wada T, Mitsuhashi S, Noguchi S, Hayashi YK, Nishino I: Muscle from a 20-week-old myotubular myopathy fetus is not myotubular. Neuromuscular disorders : NMD. 2016.03; 26 (3): 234-5. ( PubMed , DOI )

Mami Miyado, Masafumi Inui, Maki Igarashi, Yuko Katoh-Fukui, Kei Takasawa, Akiko Hakoda, Junko Kanno, Kenichi Kashimada, Kenji Miyado, Moe Tamano, Tsutomu Ogata, Shuji Takada, Maki Fukami: The p.R92W variant of NR5A1/Nr5a1 induces testicular development of 46,XX gonads in humans, but not in mice: phenotypic comparison of human patients and mutation-induced mice. Biol Sex Differ. 2016; 7 56. ( PubMed , DOI )

Tomohiro Kohmoto, Atsumi Tsuji, Kei-Ichi Morita, Takuya Naruto, Kiyoshi Masuda, Kenichi Kashimada, Keisuke Enomoto, Tomohiro Morio, Hiroyuki Harada, Issei Imoto: A novel COL11A1 missense mutation in siblings with non-ocular Stickler syndrome. Hum Genome Var. 2016; 3 16003. ( PubMed , DOI )

Nakagawa S, Takahashi MU: gEVE: a genome-based endogenous viral element database provides comprehensive viral protein-coding sequences in mammalian genomes Database. 2016; baw087.

Atsumi Tsuji, Kaoru Konishi, Satomi Hasegawa, Akira Anazawa, Toshikazu Onishi, Makoto Ono, Tomohiro Morio, Teruo Kitagawa, Kenichi Kashimada: Newborn screening for congenital adrenal hyperplasia in Tokyo, Japan from 1989 to 2013: a retrospective population-based study. BMC Pediatr. 2015.12; 15 (1): 209. ( PubMed , DOI )

Ando H, Aoyama C, Horibata Y, Satou M, Mitsuhashi S, Itoh M, Hosaka K, Sugimoto H: Transcriptional suppression of CTP:phosphoethanolamine cytidylyltransferase by 25-hydroxycholesterol is mediated by nuclear factor-Y and Yin Yang 1. The Biochemical journal. 2015.11; 471 (3): 369-79. ( PubMed , DOI )

Kei Takasawa, Shigeru Takishima, Chikako Morioka, Masato Nishioka, Hirofumi Ohashi, Yoko Aoki, Masayuki Shimohira, Kenichi Kashimada, Tomohiro Morio: Improved growth velocity of a patient with Noonan-like syndrome with loose anagen hair (NS/LAH) without growth hormone deficiency by low-dose growth hormone therapy. Am. J. Med. Genet. A. 2015.10; 167A (10): 2425-2429. ( PubMed , DOI )

Rieko Takatani, Masanori Minagawa, Angelo Molinaro, Monica Reyes, Kaori Kinoshita, Tomozumi Takatani, Itsuro Kazukawa, Misako Nagatsuma, Kenichi Kashimada, Kenichi Sato, Kazuyuki Matsushita, Fumio Nomura, Naoki Shimojo, Harald Jüppner: Similar frequency of paternal uniparental disomy involving chromosome 20q (patUPD20q) in Japanese and Caucasian patients affected by sporadic pseudohypoparathyroidism type Ib (sporPHP1B). Bone. 2015.10; 79 15-20. ( PubMed , DOI )

Izumi R, Warita H, Niihori T, Takahashi T, Tateyama M, Suzuki N, Nishiyama A, Shirota M, Funayama R, Nakayama K, Mitsuhashi S, Nishino I, Aoki Y, Aoki M: Isolated inclusion body myopathy caused by a multisystem proteinopathy-linked hnRNPA1 mutation. Neurology. Genetics. 2015.10; 1 (3): e23. ( PubMed , DOI )

Zhao Y, Ogawa H, Yonekura S, Mitsuhashi H, Mitsuhashi S, Nishino I, Toyoshima C, Ishiura S: Functional analysis of SERCA1b, a highly expressed SERCA1 variant in myotonic dystrophy type 1 muscle. Biochimica et biophysica acta. 2015.10; 1852 (10 Pt A): 2042-7. ( PubMed , DOI )

Uruha A, Noguchi S, Sato W, Nishimura H, Mitsuhashi S, Yamamura T, Nishino I: Plasma IP-10 level distinguishes inflammatory myopathy. Neurology. 2015.07; 85 (3): 293-4. ( PubMed , DOI )

Uruha A, Hayashi YK, Oya Y, Mori-Yoshimura M, Kanai M, Murata M, Kawamura M, Ogata K, Matsumura T, Suzuki S, Takahashi Y, Kondo T, Kawarabayashi T, Ishii Y, Kokubun N, Yokoi S, Yasuda R, Kira J, Mitsuhashi S, Noguchi S, Nonaka I, Nishino I: Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure. Journal of neurology, neurosurgery, and psychiatry. 2015.05; 86 (5): 483-9. ( PubMed , DOI )

Yohei Matsubara, Tomoko Kato, Kenichi Kashimada, Hiromitsu Tanaka, Zhou Zhi, Shizuko Ichinose, Shuki Mizutani, Tomohiro Morio, Tomoki Chiba, Yoshiaki Ito, Yumiko Saga, Shuji Takada, Hiroshi Asahara: TALEN-Mediated Gene Disruption on Y Chromosome Reveals Critical Role of EIF2S3Y in Mouse Spermatogenesis. Stem Cells Dev.. 2015.03; 24 (10): 1164-1170. ( PubMed , DOI )

Risa Nomura, Kentaro Miyai, Michiyo Okada, Michiko Kajiwara, Makoto Ono, Tsutomu Ogata, Iichiro Onishi, Mana Sato, Masaki Sekine, Takumi Akashi, Shuki Mizutani, Kenichi Kashimada: A 45,X/46,XY DSD (Disorder of Sexual Development) case with an extremely uneven distribution of 46,XY cells between lymphocytes and gonads. Clin Pediatr Endocrinol. 2015.01; 24 (1): 11-14. ( PubMed , DOI )

Kentaro Miyai, Toshikazu Onishi, Kenichi Kashimada, Yukihiro Hasegawa: Urinary calcium to creatinine ratio: a potential marker of secondary hyperparathyroidism in patients with vitamin D-dependent rickets type 1A. Endocr. J.. 2015; 62 (1): 61-68. ( PubMed , DOI )

Kenichi Kashimada, Tomohiro Ishii, Keisuke Nagasaki, Makoto Ono, Toshihiro Tajima, Ichiro Yokota, Yukihiro Hasegawa: Clinical, biochemical, and genetic features of non-classical 21-hydroxylase deficiency in Japanese children. Endocr. J.. 2015; 62 (3): 277-282. ( PubMed , DOI )

Liang WC, Zhu W, Mitsuhashi S, Noguchi S, Sacher M, Ogawa M, Shih HH, Jong YJ, Nishino I: Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype. Skeletal muscle. 2015; 5 29. ( PubMed , DOI )

Draper I, Mahoney LJ, Mitsuhashi S, Pacak CA, Salomon RN, Kang PB: Silencing of drpr leads to muscle and brain degeneration in adult Drosophila. The American journal of pathology. 2014.10; 184 (10): 2653-61. ( PubMed , DOI )

Kei Takasawa, Makoto Ono, Atsushi Hijikata, Yohei Matsubara, Noriyuki Katsumata, Masatoshi Takagi, Tomohiro Morio, Osamu Ohara, Kenichi Kashimada, Shuki Mizutani: Two novel HSD3B2 missense mutations with diverse residual enzymatic activities for Δ5-steroids. Clin. Endocrinol. (Oxf). 2014.06; 80 (6): 782-789. ( PubMed , DOI )

Kei Takasawa, Kenichi Kashimada, Emanuele Pelosi, Masatoshi Takagi, Tomohiro Morio, Hiroshi Asahara, David Schlessinger, Shuki Mizutani, Peter Koopman: FOXL2 transcriptionally represses Sf1 expression by antagonizing WT1 during ovarian development in mice. FASEB J.. 2014.05; 28 (5): 2020-2028. ( PubMed , DOI )

Alexander Quinn, Kenichi Kashimada, Tara-Lynne Davidson, Ee Ting Ng, Kallayanee Chawengsaksophak, Josephine Bowles, Peter Koopman: A site-specific, single-copy transgenesis strategy to identify 5' regulatory sequences of the mouse testis-determining gene Sry. PLoS ONE. 2014.04; 9 (4): e94813. ( PubMed , DOI )

Furusawa Yoshihiko, Mitsuhashi Satomi, Mori-Yoshimura Madoka, Shimada Yohta, Yamamoto Toshiyuki, Shibuya Makoto, Shimizu Jun, Ohashi Toya, Saito Yuko, Nishino Ichizo, Oya Yasushi, Murata Miho: 酵素補充療法から4年後に発症した遅発型ポンぺ病　剖検例(Late-onset Pompe disease after 4 years of enzyme replacement therapy: An autopsy case) Neurology and Clinical Neuroscience. 2014.01; 2 (1): 7-9. ( 医中誌 )

Yohei Matsubara, Tomoki Chiba, Kenichi Kashimada, Tomohiro Morio, Shuji Takada, Shuki Mizutani, Hiroshi Asahara: Transcription activator-like effector nuclease-mediated transduction of exogenous gene into IL2RG locus. Sci Rep. 2014; 4 5043. ( PubMed , DOI )

Mitsuhashi S, Boyden SE, Estrella EA, Jones TI, Rahimov F, Yu TW, Darras BT, Amato AA, Folkerth RD, Jones PL, Kunkel LM, Kang PB: Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2. Neuromuscular disorders : NMD. 2013.12; 23 (12): 975-80. ( PubMed , DOI )

Mitsuhashi S, Nishino I: Megaconial congenital muscular dystrophy due to loss-of-function mutations in choline kinase β. Current opinion in neurology. 2013.10; 26 (5): 536-43. ( PubMed , DOI )

Mitsuhashi S, Mitsuhashi H, Alexander MS, Sugimoto H, Kang PB: Cysteine mutations cause defective tyrosine phosphorylation in MEGF10 myopathy. FEBS letters. 2013.09; 587 (18): 2952-7. ( PubMed , DOI )

Chou PC, Liang WC, Nonaka I, Mitsuhashi S, Nishino I, Jong YJ: Intranuclear rods myopathy with autonomic dysfunction. Brain & development. 2013.08; 35 (7): 686-9. ( PubMed , DOI )

Mitsuhashi H, Mitsuhashi S, Lynn-Jones T, Kawahara G, Kunkel LM: Expression of DUX4 in zebrafish development recapitulates facioscapulohumeral muscular dystrophy. Human molecular genetics. 2013.02; 22 (3): 568-77. ( PubMed , DOI )

Yohei Matsubara, Makoto Ono, Kentaro Miyai, Fumihiko Takizawa, Kei Takasawa, Toshikazu Onishi, Kenichi Kashimada, Shuki Mizutani: Longitudinal analysis of growth and body composition of Japanese 21-OHD patients in childhood. Endocr. J.. 2013; 60 (2): 149-154. ( PubMed )

Mitsuhashi S, Kang PB: Update on the genetics of limb girdle muscular dystrophy. Seminars in pediatric neurology. 2012.12; 19 (4): 211-8. ( PubMed , DOI )

Boyden SE, Mahoney LJ, Kawahara G, Myers JA, Mitsuhashi S, Estrella EA, Duncan AR, Dey F, DeChene ET, Blasko-Goehringer JM, Bönnemann CG, Darras BT, Mendell JR, Lidov HG, Nishino I, Beggs AH, Kunkel LM, Kang PB: Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores. Neurogenetics. 2012.05; 13 (2): 115-24. ( PubMed , DOI )

Kondo E, Nishimura T, Kosho T, Inaba Y, Mitsuhashi S, Ishida T, Baba A, Koike K, Nishino I, Nonaka I, Furukawa T, Saito K: Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing. American journal of medical genetics. Part A. 2012.04; 158A (4): 772-8. ( PubMed , DOI )

Takahashi M, Saitou N: Identification and characterization of lineage-specific highly conserved noncoding sequences in mammalian genomes. Genome Biology and Evolution. 2012; 4 641-657.

Kei Takasawa, Makoto Ono, Kentrao Miyai, Yohei Matsubara, Fumihiko Takizawa, Toshikazu Onishi, Kenichi Kashimada, Shuki Mizutani: Initial high dose hydrocortisone (HDC) treatment for 21-hydroxylase deficiency (21-OHD) does not affect linear growth during the first three years of life. Endocr. J.. 2012; 59 (11): 1001-1006. ( PubMed )

Mitsuhashi S, Nishino I: Phospholipid synthetic defect and mitophagy in muscle disease. Autophagy. 2011.12; 7 (12): 1559-61. ( PubMed , DOI )

Kenichi Kashimada, Terje Svingen, Chun-Wei Feng, Emanuele Pelosi, Stefan Bagheri-Fam, Vincent R Harley, David Schlessinger, Josephine Bowles, Peter Koopman: Antagonistic regulation of Cyp26b1 by transcription factors SOX9/SF1 and FOXL2 during gonadal development in mice. FASEB J.. 2011.10; 25 (10): 3561-3569. ( PubMed , DOI )

Mitsuhashi S, Hatakeyama H, Karahashi M, Koumura T, Nonaka I, Hayashi YK, Noguchi S, Sher RB, Nakagawa Y, Manfredi G, Goto Y, Cox GA, Nishino I: Muscle choline kinase beta defect causes mitochondrial dysfunction and increased mitophagy. Human molecular genetics. 2011.10; 20 (19): 3841-51. ( PubMed , DOI )

Saito Y, Komaki H, Hattori A, Takeuchi F, Sasaki M, Kawabata K, Mitsuhashi S, Tominaga K, Hayashi YK, Nowak KJ, Laing NG, Nonaka I, Nishino I: Extramuscular manifestations in children with severe congenital myopathy due to ACTA1 gene mutations. Neuromuscular disorders : NMD. 2011.07; 21 (7): 489-93. ( PubMed , DOI )

Mitsuhashi S, Ohkuma A, Talim B, Karahashi M, Koumura T, Aoyama C, Kurihara M, Quinlivan R, Sewry C, Mitsuhashi H, Goto K, Koksal B, Kale G, Ikeda K, Taguchi R, Noguchi S, Hayashi YK, Nonaka I, Sher RB, Sugimoto H, Nakagawa Y, Cox GA, Topaloglu H, Nishino I: A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis. American journal of human genetics. 2011.06; 88 (6): 845-851. ( PubMed , DOI )

Kenichi Kashimada, Emanuele Pelosi, Huijun Chen, David Schlessinger, Dagmar Wilhelm, Peter Koopman: FOXL2 and BMP2 act cooperatively to regulate follistatin gene expression during ovarian development. Endocrinology. 2011.01; 152 (1): 272-280. ( PubMed , DOI )

Prakash T, Oshima K, Morita H, Fukuda S, Imaoka A, Kumar N., Sharma VK, Takahashi M, Saitou N, Taylor TD, Ohno H, Umesaki Y, Hattori M: Complete genome sequences of rat and mouse segmented filamentous bacteria, a potent inducer of Th17 cell differentiation Cell Host & Microbe. 2011;

Kenichi Kashimada, Peter Koopman: Sry: the master switch in mammalian sex determination. Development. 2010.12; 137 (23): 3921-3930. ( PubMed , DOI )

Ishigaki K, Mitsuhashi S, Kuwatsuru R, Murakami T, Shishikura K, Suzuki H, Hirayama Y, Nonaka I, Osawa M: High-density areas on muscle CT in childhood-onset Pompe disease are caused by excess calcium accumulation. Acta neuropathologica. 2010.10; 120 (4): 537-43. ( PubMed , DOI )

Fumihiko Takizawa, Kenichi Kashimada, Keisuke Enomoto, Kentaro Miyai, Makoto Ono, Goro Asada, Junichi Shimizu, Shuki Mizutani: Two preterm infants with late onset circulatory collapse induced by levothyroxine sodium. Pediatr Int. 2010.06; 52 (3): e154-e157. ( PubMed , DOI )

Mitsuhashi Satomi, Nonaka Ikuya, Wu Shiwen, Alberto Carlos, Moreno Ibarra, Shalaby Sherine, Hayashi Yukiko K., Noguchi Satoru, Nishino Ichizo: Multi-minicore病における遠位型ミオパシー(Distal Myopathy in Multi-minicore Disease) Internal Medicine. 2009.10; 48 (19): 1759-1762. ( 医中誌 )

Hayashi YK, Matsuda C, Ogawa M, Goto K, Tominaga K, Mitsuhashi S, Park YE, Nonaka I, Hino-Fukuyo N, Haginoya K, Sugano H, Nishino I: Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy. The Journal of clinical investigation. 2009.09; 119 (9): 2623-33. ( PubMed , DOI )

Arai A, Mitsuhashi S, Saito Y, Komaki H, Sakuma H, Nakagawa E, Sugai K, Sasaki M, Robertson SP, Nishimura G, Yamamoto T, Nonaka I, Nishino I: Nemaline (actin) myopathy with myofibrillar dysgenesis and abnormal ossification. Neuromuscular disorders : NMD. 2009.07; 19 (7): 485-8. ( PubMed , DOI )

T Svingen, C M Spiller, K Kashimada, V R Harley, P Koopman: Identification of suitable normalizing genes for quantitative real-time RT-PCR analysis of gene expression in fetal mouse gonads. Sex Dev. 2009; 3 (4): 194-204. ( PubMed , DOI )

Mitsuhashi S, Nonaka I, Wu S, Moreno CA, Shalaby S, Hayashi YK, Noguchi S, Nishino I: Distal myopathy in multi-minicore disease. Internal medicine (Tokyo, Japan). 2009; 48 (19): 1759-62. ( PubMed , DOI )

Kenichi Kashimada, Tae Omori, Fumihiko Takizawa, Shuki Mizutani: Two cases of transient pseudohypoaldosteronism due to group B streptococcus pyelonephritis. Pediatr. Nephrol.. 2008.09; 23 (9): 1569-1570. ( PubMed , DOI )

Yujin Shibayama, Tatsuya Higashi, Kazutake Shimada, Ken-Ichi Kashimada, Toshikazu Onishi, Makoto Ono, Kentaro Miyai, Shuki Mizutani: Liquid chromatography-tandem mass spectrometric method for determination of salivary 17alpha-hydroxyprogesterone: a noninvasive tool for evaluating efficacy of hormone replacement therapy in congenital adrenal hyperplasia. J. Chromatogr. B Analyt. Technol. Biomed. Life Sci.. 2008.05; 867 (1): 49-56. ( PubMed , DOI )

Kenichi Kashimada, Makoto Ono, Toshikazu Onishi, Satimi Koyama, Takio Toyoura, Kazuhide Imai, Sumitaka Saisho, Shuki Mizutani: Clinical course of patients with nonclassical 21-hydroxylase deficiency (21-OHD) diagnosed in infancy and childhood. Endocr. J.. 2008.05; 55 (2): 397-404. ( PubMed )

Ono Makoto, Kashimada Kenichi, Miyai Kentaro, Onishi Toshikazu, Takagi Masatoshi, Honma Seijiro, Mizutani Shuki: In Vitro Enzyme Assay of CYP21A2 Mutation (R483Q) by A Novel Method Using Liquid Chromatography-Electrospray Ionization Tandem Mass Spectrometry (LC-ESI-MS/MS). Clin Pediatr Endocrinol. 2008; 17 (2): 49-56. ( PubMed , DOI )

Ken-ichi Kashimada, Toshikazu Onishi, Makoto Ono, Kentaro Miyai, Masayasu Ohta, Shuki Mizutani: A boy with "transient" growth hormone deficiency in prepubertal stage despite normal growth hormone secretion in childhood and after puberty. Endocr. J.. 2007.12; 54 (6): 1015-1019. ( PubMed )

N Shihara, Y Horikawa, T Onishi, M Ono, K Kashimada, J Takeda: Identification of a new case of hepatocyte nuclear factor-1beta mutation with highly varied phenotypes. Diabetologia. 2004.06; 47 (6): 1128-1129. ( PubMed , DOI )

Eiji Nakashima, Akihiko Mabuchi, Kenichi Kashimada, Toshikazu Onishi, Junwei Zhang, Hirofumi Ohashi, Gen Nishimura, Shiro Ikegawa: RMRP mutations in Japanese patients with cartilage-hair hypoplasia. Am. J. Med. Genet. A. 2003.12; 123A (3): 253-256. ( PubMed , DOI )

K Kashimada, T Yamashita, K Tsuji, A Nifuji, S Mizutani, Y Nabeshima, M Noda: Defects in growth and bone metabolism in klotho mutant mice are resistant to GH treatment. J. Endocrinol.. 2002.09; 174 (3): 403-410. ( PubMed , DOI )

Toshikazu Onishi, Hajime Takei, Akira Kambegawa, Sumitaka Saisho, Kenichi Kashimada, Satomi Koyama, Shuki Mizutani, Pemmaraju N Rao: A highly specific heterologous enzyme immunoassay for 5 alpha-androstane-3 alpha, 17 beta-diol 17-glucuronide (androstanediol-17G) and developmental patterns of urinary androstanediol-17G excretions. Steroids. 2002.03; 67 (3-4): 175-183. ( PubMed )

Noda M, Tsuji K, Ishijima M, Usui M, Takamoto M, Kashimada K, Nitou A: [Bone remodeling] Nippon Rinsho. 2002.03; 60 Suppl 3 34-39. ( PubMed )

T Yamashita, I Sekiya, N Kawaguchi, K Kashimada, A Nifuji, Y I Nabeshima, M Noda: Klotho-deficient mice are resistant to bone loss induced by unloading due to sciatic neurectomy. J. Endocrinol.. 2001.02; 168 (2): 347-351. ( PubMed )

三善陽子, 橘真紀, 長井直子, 赤尾正, 安達昌功, 伊藤純子, 鹿島田健一, 菅野潤子, 佐藤武志, 長井静世, 堀友博　堀川玲子, 室谷浩二, 森川俊太郎, 岡田賢: 小児内分泌科医による小児・思春期若年成人世代がん患者の栄養管理の現状 日本小児科学会雑誌. 2025.04; 129 (4): 551-560.

高地 雄太: ロングリードシークエンスによる免疫研究の展開 臨床免疫・アレルギー科. 2024.12; 82 (6): 610-615. ( 医中誌 )

折本竜太,鹿島田健一: 【特集　ここまで来た！新生児マススクリーニングと対象疾患の治療】以前からの対象疾患-再検査、精密検査、そして治療　先天性副腎過形成症 小児内科. 2024.12; 56 (12): 1797-1802.

鹿島田健一: つながる内分泌学-古典的な内分泌学から他分野への新たな展開- 小児科診療. 2024.10; 87 (10): 3.

鹿島田健一: 特集　思春期にある人々を取り巻く現状と課題【知っておきたい知識】思春期の身体的成熟と慢性疾患;内分泌科医の視点から 小児看護. 2024.08; 47 (8): 929-934.

高地 雄太: GWASとその後の解析　polygenic risk score 呼吸器内科. 2024.07; 46 (1): 96-100. ( 医中誌 )

鹿島田健一: 先天性副腎過形成の新生児マススクリーニング実施成績 東京都予防医学協会2024版. 2024.04; 53 149-152.

鹿島田健一: 子どもの身長 月刊　母子保健. 2024.04; (780): 8-9.

酢谷明人,鹿島田健一: 【これでマスター! 最新 産婦人科ホルモン療法】(第2章)B 女性医学　性分化異常 参加と婦人科　増刊号. 2024.03; 91 190-196.

佐藤薫、鹿島田健一: 【小児内分泌を楽しく学ぼう】ガイドライン,診断・治療の手引きをどう利用するか?　性分化疾患のガイドラインに基づく対応と考え方 小児内科. 2024.02; 56 (2): 209-214. ( 医中誌 )

鹿島田健一、桐野玄: 体細胞分化転換機構から解明する性の多様性と性分化疾患の病態 細胞. 2024.01; 56 (1): 66-69. ( 医中誌 )

鹿島田健一: 【これならわかる性分化疾患】基礎知識　性分化疾患とは 小児外科. 2023.12; 55 (12): 1264-1269. ( 医中誌 )

松田希,鹿島田健一: 【エキスパートが教える　小児の薬物治療】疾患別　H.内分泌・代謝疾患　思春期早発症 小児内科. 2023.11; 55 723-726. ( 医中誌 )

鹿島田健一: 特集　成長曲線を書こう　Ⅰ.成長曲線 改めて考える,い,ろ,は　成長の”しくみ” 小児科診療. 2023.11; 86 (11): 21-27. ( DOI , 医中誌 )

鹿島田健一: 【成長曲線を書こう】成長曲線　改めて考える,い,ろ,は　成長の"しくみ" 小児科診療. 2023.11; 86 (11): 1303-1309. ( 医中誌 )

高地 雄太: 【関節リウマチの最新の理解とマネジメント】関節リウマチの遺伝素因 日本内科学会雑誌. 2023.10; 112 (10): 1880-1884. ( 医中誌 )

【目的・基準値・進め方がわかる　新生児の検査A to Z】(第3章)押さえておくべき新生児の検査　その他押さえておくべき検査　新生児マススクリーニング検査 with NEO2023秋季増刊. 2023.09; 268-273. ( 医中誌 )

鹿島田健一: 【目的・基準値・進め方がわかる　新生児の検査A to Z】(第3章)押さえておくべき新生児の検査　内分泌代謝系の検査　アンモニア with NEO2023秋季増刊. 2023.09; 224-228. ( 医中誌 )

渡辺和弘, 鹿島田健一 : 液体クロマトグラフィー質量分析法を用いた２１水酸化酵素欠損症スクリーニングアルゴリズムの作成 日本マス・スクリーニング学会誌. 2023.06; 33 (1): 9-18.

鹿島田健一: 【時間の流れと産婦人科生物学-早すぎること,遅すぎること,長すぎること,短かすぎること-】時間の流れと生殖内分泌学　思春期早発症 産科と婦人科. 2023.05; 90 (5): 486-493.

鹿島田健一: 治療法の再整理とアップデートのために　専門家による私の治療　家族性高コレステロール血症(小児) 日本医事新報. 2023.05; 5170 50-51. ( 医中誌 )

Tadaka Kosuke, Ueda Mahoko Takahashi, Shichinohe Shintaro, Kida Yurie, Ono Chikako, Matsura Yoshiharu, Watarbe Tokiko, Nakagawa So: Genomic diversity of SARS-CoV-2 can be accelerated by mutations in the nsp14 gene ISCIENCE. 2023.03; 26 (3): 106210. ( PubMed , DOI )

高地 雄太: 【膠原病　病態治療の新たな潮流】自己免疫疾患のゲノム解析の現状と展望 アレルギーの臨床. 2023.03; 43 (3): 157-160. ( 医中誌 )

高地 雄太: 【皮膚筋炎とその周辺】炎症性筋疾患と遺伝的素因 皮膚科. 2023.01; 3 (1): 1-5. ( 医中誌 )

橋本病を合併した混合性結合組織病の1例　hypothyroid myopathyの鑑別の重要性 小児リウマチ. 2022.12; 13 (1): 43-47. ( 医中誌 )

田中 里奈, 清水 正樹, 真保 麻実, 山崎 晋, 高澤 啓, 鹿島田 健一, 森尾 友宏, 森 雅亮: 橋本病を合併した混合性結合組織病の1例　hypothyroid myopathyの鑑別の重要性 小児リウマチ. 2022.12; 13 (1): 43-47.

田中里奈, 清水正樹, 真保麻実, 山崎晋, 高澤啓, 鹿島田健一, 森尾友宏, 森雅亮: 繰り返す口内炎を呈しBehcet病と鑑別を要した歯科金属アレルギーの1例 小児リウマチ. 2022.12; 31 (1): 43-47.

田中 里奈, 清水 正樹, 真保 麻実, 山崎 晋, 高澤 啓, 鹿島田 健一, 森尾 友宏, 森 雅亮 : 橋本病を合併した混合性結合組織病の1例　hypothyroid myopathyの鑑別の重要性 小児リウマチ. 2022.12; 13 (1): 43-47.

高地 雄太: 【Geneticsとepigenetics】エリテマトーデス 皮膚科. 2022.12; 2 (6): 728-734. ( 医中誌 )

山野春樹, 鹿島田健一: 【小児科医が知っておくべき性の知識】各論:性分化疾患　性分化疾患の内科的治療 小児内科. 2022.10; 54 (10): 1701-1704.

鹿島田健一: これからの移行期医療を考える　疾患別移行期医療の取り組み～これからの移行期医療を考えるうえで 小児科診療. 2022.10; 85 (秋増刊): 210-215.

鹿島田健一: 21-水酸化酵素欠損症の診断・治療ガイドライン(2021年改訂版)解説 糖尿病・内分泌代謝科. 2022.09; 55 (3): 372-378.

中川竜一, 鹿島田健一: マウスを用いた経時的エンハンサーRNA解析による卵巣体細胞特異的エンハンサー候補領域および疾患感受性領域の同定 日本生殖内分泌学会雑誌. 2022.09; 27 18-23.

岩山秀之, 河原幸平, 北川幸子, 松下希美, 加藤翔子, 小田嶋貴之, 齊藤拓也, 鹿島田健一, 高木潤子, 金子健一朗, 奥村彰久: 腹腔鏡手術中に索状性腺および痕跡子宮が発見されターナー症候群と診断された1例 小児科臨床. 2022.06; 75 (3): 449-452.

高地 雄太: 【全身性エリテマトーデス-診断・治療の最新動向-】総論とSLEの発症メカニズム　SLEの遺伝学 日本臨床. 2022.05; 80 (5): 757-762. ( 医中誌 )

高地 雄太: 【最新関節リウマチ学(第2版)-寛解・治癒を目指した研究と最新治療-】病因と病態　関節リウマチの病因研究とその進歩　関節リウマチの遺伝素因 日本臨床. 2022.04; 80 (増刊4 最新関節リウマチ学): 41-45. ( 医中誌 )

高地 雄太: 【RA発症前の病態解析の進歩】遺伝要因を用いた関節リウマチの発症期の診断・病態予測 臨床リウマチ. 2022.03; 34 (1): 38-43. ( 医中誌 )

中谷久恵, 鹿島田健一: 【こんなときどうする?他科とのコミュニケーションガイド】(第1章) 新生児科・小児科・新生児外科　性分化疾患(DSD)およびTurner症候群 産科と婦人科. 2022.03; 89 Suppl. 103-108.

鹿島田健一: 先天性副腎過形成の新生児マススクリーニング実施成績 東京都予防医学協会年報 2022年版 . 2022.03; 51 141-145.

家村綾正, 鹿島田健一: 【周産期のステロイド】臨床編　新生児　先天性副腎過形成に対するステロイド療法 周産期医学. 2022.01; 52 (1): 101-104.

桐野玄, 鹿島田健一: 【小児疾患診療のための病態生理2　改訂第6版】内分泌疾患　性分化疾患 小児内科. 2021.12; 53 (増刊号): 454-461.

鹿島田健一: 【内分泌疾患・糖尿病・代謝疾患-診療のエッセンス】(I章)内分泌疾患　主要内分泌疾患　性腺疾患、内分泌腫瘍、受容体異常症　性腺機能低下症 日本医師会雑誌. 2021.10; 150 (特別号(2)): 135-137.

鹿島田健一: 21-水酸化酵素欠損症の新生児マススクリーニングの今後について 日本マススクリーニング学会誌. 2021.05; 31 (1): 11-19. ( 医中誌 )

安達恵利子, 鹿島田健一: 【各病態における輸液の考え方：電解質異常】 低Na血症，高Na血症 小児内科. 2021.04; 53 (4): 545-550. ( 医中誌 )

高地 雄太: 【Common disease解析の最前線】自己免疫疾患のゲノム・オミックス解析の最前線 遺伝子医学. 2021.04; 11 (2): 23-27. ( 医中誌 )

高地 雄太: 免疫関連疾患のゲノミクス研究の現在　自己免疫疾患のゲノム解析　ゲノム精密医療に向けて 日本リウマチ学会総会・学術集会プログラム・抄録集. 2021.03; 65回 173. ( 医中誌 )

宇都宮朱里, 栗栖優佳, 中川竜一, 高澤啓, 鹿島田健一: CYP21A2欠失とTNXB部分欠失を認め遺伝カウンセリングを行った21-水酸化酵素欠損症の男児例 日本マス・スクリーニング学会誌. 2021.02; 31 (3): 301-307.

鹿島田健一: 先天性副腎過形成症の新生児マススクリーニングの現状とその課題 日本小児科学会雑誌. 2021.01; 125 (1): 11-23. ( 医中誌 )

高地 雄太: 専門医のためのアレルギー学講座　遺伝子から見た免疫・アレルギー　免疫細胞のトランスクリプトーム解析と疾患感受性遺伝子　eQTLとGWASの統合解析 アレルギー. 2020.12; 69 (10): 947-951. ( 医中誌 )

太田 峰人, 永渕 泰雄, 波多野 裕明, 石垣 和慶, 竹島 雄介, 柳岡 治先, 小林 聖未, 大久保 麻衣, 杉森 祐介, 前田 淳子, 中野 正博, 山田 紗依子, 吉田 良知, 岩崎 由希子, 住友 秀次, 庄田 宏文, 高地 雄太, 山本 一彦, 岡村 僚久, 藤尾 圭志: 機能ゲノム解析による全身性免疫疾患へのアプローチ 日本臨床免疫学会総会プログラム・抄録集. 2020.10; 48回 76. ( 医中誌 )

高地 雄太: 【ヒト免疫疾患研究の新たなアプローチ】ヒト免疫疾患のゲノム解析からのアプローチ　多因子遺伝疾患 炎症と免疫. 2020.10; 28 (6): 460-464. ( 医中誌 )

高地 雄太: 病態探索に挑む　Splicing QTL解析を介した免疫疾患の病態へのアプローチ 日本臨床免疫学会総会プログラム・抄録集. 2020.10; 48回 47. ( 医中誌 )

中川竜一, 鹿島田健一, 高澤啓: 性腺分化機構の解析による人工配偶子作成および胎内発育障害の病態解明への試み 成長科学協会研究年報. 2020.10; (43): 135-136. ( 医中誌 )

高澤啓, 鹿島田健一, 酢谷明人, 中川竜一, 我有茉希: DNA損傷修復異常による成長障害の病態解明 成長科学協会研究年報. 2020.10; (43): 117-120. ( 医中誌 )

棚橋祐典, 鈴木滋, 鹿島田健一, 向井徳男, 勝又規行, 石井智弘, 田島敏広, 長谷川奉延: 本邦における21水酸化酵素欠損症の予後調査 日本内分泌学会雑誌. 2020.07; 96 Suppl. 107-110. ( 医中誌 )

尾堀 佐知子, 三橋 里美, 松本 直通: 【Long read sequencer】長鎖シークエンサーを用いたヒト疾患解析 遺伝子医学. 2020.07; 10 (3): 23-28. ( 医中誌 )

齋藤洋子, 鹿島田健一: 【[必携]専攻医と指導医のための新生児診療到達目標】疾患別到達目標　代謝内分泌疾患　先天性副腎過形成症 周産期医学. 2020.04; 50 (4): 684-687. ( 医中誌 )

高地 雄太: 【特発性炎症性筋疾患update】IIMのゲノム解析の現状 リウマチ科. 2020.04; 63 (4): 369-373. ( 医中誌 )

高地 雄太: 【ビッグデータ時代のゲノム医学】免疫・アレルギー疾患のゲノム医学　関節リウマチのゲノム医学 生体の科学. 2020.04; 71 (2): 142-146. ( 医中誌 )

眞柄達也, 高澤啓, 渡邉友博, 渡辺章充, 鹿島田健一, 渡部誠一: 臨床症状に乏しく肝腎機能障害を契機に診断された萎縮性甲状腺炎の小児例 茨城県厚生連病院学会雑誌. 2020.02; 32 63-68. ( 医中誌 )

高地 雄太: 整形外科領域におけるゲノム医療:現状と臨床への展開　eQTLを介した関節リウマチのゲノム解析 日本整形外科学会雑誌. 2020.01; 94 (1): 6-10. ( 医中誌 )

Kochi Y: [TRANSCRIPTOME ANALYSIS OF IMMUNE CELLS AND DISEASE SUSCEPTIBLE GENES]. Arerugi = [Allergy]. 2020; 69 (10): 947-951. ( PubMed , DOI )

土田 優美, 太田 峰人, 石垣 和慶, 住友 秀次, 山口 健介, 永渕 泰雄, 土屋 遥香, 庄田 宏文, 鈴木 亜香里, 山本 一彦, 高地 雄太, 藤尾 圭志: 刺激下でのCD4陽性T細胞におけるexpression quantitative trait locusの検討 日本臨床免疫学会総会プログラム・抄録集. 2019.10; 47回 122. ( 医中誌 )

鈴木 亜香里, 高地 雄太, 石垣 和慶, 山本 一彦: 運動器疾患ゲノム研究の未来　統合オミックス解析による関節リウマチ関連遺伝子の同定 日本整形外科学会雑誌. 2019.09; 93 (8): S1609. ( 医中誌 )

高地 雄太: 【システム臨床免疫学】eQTLによる自己免疫疾患の病因解明 炎症と免疫. 2019.08; 27 (5): 398-401. ( 医中誌 )

中谷久恵, 鹿島田健一: 【小児外来:どう診るか、どこまで診るか】新生児、乳児、先天異常　非典型的外性器の診察(性分化疾患) 小児科臨床. 2019.08; 72 (増刊): 1077-1083. ( 医中誌 )

野村莉紗, 鹿島田健一: 胎生期卵巣におけるNR5A1/Ad4BP/SF1の転写抑制は Notchシグナルを介した卵巣発生の最適化に必要である 日本生殖内分泌学会雑誌. 2019.08; 24 18-23. ( 医中誌 )

齋藤洋子, 宮井健太郎, 高澤啓, 鹿島田健一: Carbamazepine内服中に自然寛解したBasedow病の1例 小児科臨床. 2019.07; 72 (7): 845-848. ( 医中誌 )

鹿島田健一: いま知りたい!!♂と♀で割りきれない　ヒトの性の多様性と連続性　性スペクトラムから考える哺乳類性腺発生の分子機構 実験医学. 2019.06; 37 (9): 1438-1442. ( 医中誌 )

堀端 康博, 三橋 里美, 青山 智英子, 清水 裕晶, 杉本 博之: 筋分化におけるホスファチジルコリン輸送タンパク質STARD7の役割の解析 脂質生化学研究. 2019.06; 61 118-120. ( 医中誌 )

我有茉希, 鹿島田健一: 【小児の負荷試験2019】 副腎皮質系機能検査　メトピロン(メチラポン)負荷試験 小児内科. 2019.04; 51 (4): 461-464. ( 医中誌 )

土屋 遥香, 太田 峰人, 住友 秀次, 石垣 和慶, 鈴木 亜香里, 高地 雄太, 土田 優美, 庄田 宏文, 乾 洋, 武冨 修治, 門野 夕峰, 田中 栄, 山本 一彦, 藤尾 圭志: 自己免疫疾患のメカニズムへの最新のアプローチ　関節リウマチ患者由来滑膜線維芽細胞の統合的機能ゲノム解析 日本リウマチ学会総会・学術集会プログラム・抄録集. 2019.03; 63回 202. ( 医中誌 )

高地 雄太: 自己免疫疾患のメカニズムへの最新のアプローチ　臨床的無筋症性皮膚筋炎におけるWDFY4の役割 日本リウマチ学会総会・学術集会プログラム・抄録集. 2019.03; 63回 203. ( 医中誌 )

高地 雄太: 【リウマチ性疾患における遺伝素因と環境要因】強皮症および炎症性筋疾患の遺伝素因 リウマチ科. 2019.02; 61 (2): 116-121. ( 医中誌 )

高地 雄太: 【自己免疫疾患の個別化医療】ゲノム情報による自己免疫疾患の個別化医療 Precision Medicine. 2019.01; 2 (1): 10-13. ( 医中誌 )

中川竜一, 鹿島田健一: 21ー水酸化酵素欠損症の遺伝子解析 日本マススクリーニング学会誌. 2018.12; 28 (3): 277-283. ( 医中誌 )

小西恵理,神田祥一郎,赤嶺陽子,伊藤友弥,惠谷ゆり,鹿島田健一,島津智之,島袋林秀,武内俊樹,土畠智幸,奈倉道明,福與なおみ,松島卓哉,村上てるみ,堤裕幸,宮田章子,永田智,森尾友宏,将来の小児科医を考える委員会: 日本小児科学会将来の小児科医を考える委員会報告　学術集会における将来の小児科医を考える委員会の活動に関する報告 日本小児科学会雑誌. 2018.11; 122 (11): 1768-1771.

橋元由紀子, 山内建, 高澤啓, 前田佳真, 土井庄三郎, 鹿島田健一, 森尾友宏: 肝機能障害を契機にホモ接合性家族性低βリポ蛋白血症の診断に至った1例 日本小児科学会雑誌. 2018.08; 122 (8): 1386. ( 医中誌 )

高地 雄太: 【遺伝子解析研究の新時代】疾患ゲノム研究最前線　多因子　自己免疫疾患の感受性遺伝子から迫る病態 医学のあゆみ. 2018.08; 266 (5): 449-453. ( 医中誌 )

中川 草, 上田 真保子, 中野 雄介, 安田 二朗, 小柳 義夫, 佐藤 佳, 黒崎 陽平: 微生物・感染症学における多様なDry解析アプローチ　公共データベースを活用したエボラウイルスGP遺伝子の感染効率に関与する塩基突然変異の同定 日本獣医学会学術集会講演要旨集. 2018.08; 161回 209. ( 医中誌 )

小西薫, 橋本敦子, 間下充子, 世良保美, 鹿島田健一: 早産児における先天性副腎過形成スクリーニングの判定基準の検討 予防医学ジャーナル. 2018.07; 501 38-40.

高地 雄太: 【IBDと疾患感受性遺伝子】自己免疫疾患、炎症性腸疾患間での感受性遺伝子の相違点からみえてくるもの 消化器病学サイエンス. 2018.06; 2 (2): 83-86. ( 医中誌 )

三橋 里美: 【ニューロジェネティクス新時代　次世代シークエンサーが拓く新しい世界】筋疾患・神経疾患のジェネティクス　次世代シークエンサーを用いた筋疾患診断 Clinical Neuroscience. 2018.02; 36 (2): 187-190. ( 医中誌 )

中川 草, 三橋 里美, Kryukov Kirill, 今西 規: 【どこでも 誰でも より長く　ナノポアシークエンサーが研究の常識を変える!】迅速な細菌種の組成解析 実験医学. 2018.01; 36 (1): 32-37. ( 医中誌 )

三橋 里美, 中川 草, 上田 真保子, 今西 規, Frith Martin C., 三橋 弘明: 【どこでも 誰でも より長く　ナノポアシークエンサーが研究の常識を変える!】リピート数が関与する疾患の診断に向けて　サブテロメア領域のD4Z4マクロサテライトリピートを読む 実験医学. 2018.01; 36 (1): 44-48. ( 医中誌 )

橋本敦子, 藤川研人, 小西薫, 間下充子, 世良保美, 鹿島田健一: 先天性副腎過形成新生児マススクリーニングにおける週数別判定基準の検討 日本マススクリーニング学会誌. 2017.12; 27 (3): 57-61.

上田 真保子, 三橋 里美, 三橋 弘明, 今西 規, 中川 草: 細胞融合にかかわる内在性レトロウイルス由来遺伝子の同定 生命科学系学会合同年次大会. 2017.12; 2017年度 [3P-1463]. ( 医中誌 )

佐藤 海, 大友 麻子, 上田 真保子, 杉山 純也, 小野 鈴花, 三井 駿, 中川 草, 秦野 伸二: N末端自己相互作用ドメインのALS2疾患原因変異は、ALS2の正常な多量体形成やエンドソーム局在を阻害する 生命科学系学会合同年次大会. 2017.12; 2017年度 [3P-1120]. ( 医中誌 )

高地 雄太: 【リウマチ性疾患の遺伝要因】遺伝子多型　遺伝要因を理解するために リウマチ科. 2017.10; 58 (4): 354-358. ( 医中誌 )

山内 建, 鹿島田 健一: 【子どもの生活習慣病-スクリーニングと早期予防】 生活習慣病と関連疾患　病態と治療　治療介入の決断時期　婦人科関連疾患 小児内科. 2017.10; 49 (10): 1523-1528.

高地 雄太: 【診断と治療のABC[126]関節リウマチ】(第1章)概念・定義と疫学　遺伝的要因 最新医学. 2017.09; 別冊 (関節リウマチ): 24-30. ( 医中誌 )

三橋 里美, 松本 直通: 【精神科におけるてんかん診療】てんかんの遺伝と遺伝子診断 臨床精神医学. 2017.07; 46 (7): 843-847. ( 医中誌 )

三橋 里美: 【ミオパチー:最近のトピックス】顔面肩甲上腕型筋ジストロフィー 神経内科. 2017.03; 86 (3): 342-345. ( 医中誌 )

高地 雄太: 【全身性エリテマトーデス:病態解明の進歩】全身性エリテマトーデスの感受性遺伝子 炎症と免疫. 2017.02; 25 (2): 125-128. ( 医中誌 )

中川 竜一, 鹿島田 健一: 【小児内分泌アドバンス】内分泌領域における最新の知見　性分化機構 小児内科. 2017.02; 42 (2): 168-173.

三橋 里美: 【筋肉研究の最前線】次世代シークエンサー(NGS)を用いた筋疾患診断 Clinical Calcium. 2017.02; 27 (3): 401-408. ( 医中誌 )

鹿島田 健一: 【知って得する小児内分泌代謝領域の話題】 性が分化すること 小児科臨床 . 2017.01; 70 (1): 25-32.

荒木恭子, 内山健, 今村公俊, 鹿島田健一: 新生児高血糖の管理にインスリン持続静注を行った超早産児の２例 小児臨床. 2017.01; 70 (2): 265-270.

Mitsuhashi S: [Diagnosis for skeletal muscle disorders using next-generation sequencing.] Clinical calcium. 2017; 27 (3): 401-408. ( PubMed , DOI )

三橋 里美, 西野 一三: 【筋ジストロフィー・筋疾患-最近の進歩】ミオパチーの臨床と研究の最新トピックス　次世代シークエンサーによる筋疾患の診断 医学のあゆみ. 2016.10; 259 (1): 45-49. ( 医中誌 )

三橋 里美: 【筋ジストロフィーup to date】各病型の特徴と診断のポイント　顔面肩甲上腕型筋ジストロフィー Clinical Neuroscience. 2016.03; 34 (3): 328-329. ( 医中誌 )

宮川 雄一, 鹿島田 健一: 先天性副腎過形成(CAH)精査機関での診断のポイント　17-OHP高値をとるCAHの病型診断と遺伝学的検査について 日本マス・スクリーニング学会誌 . 2015.12; 25 (3): 251-259.

長妻美紗子, 鹿島田健一: Cushing 症候群 小児疾患診療のための病態生理1　改訂5版　小児内科. 2015.11; 47

三橋 里美: 【骨格筋症候群(第2版)-その他の神経筋疾患を含めて-】[上]　筋ジストロフィーおよび膜イオンチャネル異常症　先天性筋ジストロフィー(CMD)　非福山型先天性筋ジストロフィー　巨大ミトコンドリア先天性筋ジストロフィー(コリンキナーゼβ欠損症) 日本臨床. 2015.05; 別冊 (骨格筋症候群(上)): 173-176. ( 医中誌 )

埜中 征哉, 辻野 精一, 三橋 里美, 西野 一三: 日本におけるPompe病の現状と臨床病理学的特徴 神経内科. 2015.05; 82 (5): 537-545. ( 医中誌 )

三橋 里美, 西野 一三: 【ますます臨床利用が進む遺伝子検査-その現状と今後の展開そして課題-】(第3章)生殖細胞系列遺伝学的検査の臨床応用　各種疾患における診療目的の遺伝学的検査　筋疾患の遺伝学的検査 遺伝子医学MOOK. 2015.04; (28): 136-140. ( 医中誌 )

鹿島田健一: 思春期にあるがん患者・サバイバー (CCS) の医学的問題 小児看護. 2015; 38 1373-1378.

高澤 啓, 鹿島田健一: 卵巣発生において卵巣特異的転写因子 FOXL2はWT1による Sf1の発現を抑制する 日本生殖内分泌学会雑誌. 2015; 20 47-51.

宮川雄一, 鹿島田健一: 先天性副腎過形成(CAH)精査機関での診断のポイント〜17-OHP高値をとるCAHの病型診断と遺伝学的検査について〜 日本マススクリーニング学会雑誌. 2015; 25 (3): 9-17.

木村 円, 中村 治雅, 三橋 里美, 竹内 芙実, 森 まどか, 清水 玲子, 小牧 宏文, 林 由起子, 西野 一三, 川井 充, 武田 伸一: 今開かれる筋ジストロフィー治療の扉　筋ジストロフィーの臨床開発を推進する研究基盤　RemudyとMDCTN 臨床神経学. 2014.12; 54 (12): 1069-1070. ( 医中誌 )

滝島 茂, 鹿島田 健一: 性分化　低身長症(-2.6SD)を呈したKlinefelter症候群(48,XXXY)の1例 ホルモンと臨床. 2014.05; 62 (5): 417-420.

Kimura E, Nakamura H, Mitsuhashi S, Takeuchi F, Mori-Yoshimura M, Shimizu R, Komaki H, Hayashi YK, Nishino I, Kawai M, Takeda S: [Infrastructure for the clinical research of muscular dystrophies: remudy and MDCTN]. Rinsho shinkeigaku = Clinical neurology. 2014; 54 (12): 1069-70. ( PubMed , DOI )

高澤 啓, 鹿島田 健一: 【小児の内分泌・代謝性疾患診療のUpdate】 3β水酸化ステロイド脱水素酵素異常 小児科臨床. 2012.05; 65 (5): 951-958.

齊藤 祐子, 塩谷 彩子, 池田 謙輔, 青天目 信, 三橋 里美: 【病理解剖マニュアル】(第1部)病理解剖の進め方、切り出し方法など　特殊な部位、手技、検体保存　末梢神経、筋 病理と臨床. 2012.04; 30 (臨増): 69-76. ( 医中誌 )

青山 智英子, 三橋 里美, 杉本 博之, 西野 一三: コリンキナーゼβノックアウトマウスの解析とヒト疾患における検討 脂質生化学研究. 2010.05; 52 85-87. ( 医中誌 )

三橋 里美, 川井 充: 【神経内科の病気のすべて】末梢神経疾患・筋疾患　筋疾患の分類と診断 からだの科学. 2010.05; (265): 174-179. ( 医中誌 )

三橋 里美, 梁 文貞, 西野 一三: 【筋病理　最近の進歩】代謝性ミオパチーの筋病理 神経内科. 2009.10; 71 (4): 369-376. ( 医中誌 )

三橋 里美, 西野 一三: 代謝性ミオパチーの最近の話題 小児科. 2009.05; 50 (5): 603-609. ( 医中誌 )

三橋 里美, 埜中 征哉, 西野 一三: 【糖原病II型(Pompe病)　診断から治療へ】糖原病II型(Pompe病)の診断へのアプローチ　病理診断 神経内科. 2009.05; 70 (5): 434-436. ( 医中誌 )

鹿島田 健一: 【志願者減少から検証する臨床研修制度での小児科研修の問題点と展望】 一般病院における小児科研修 東京小児科医会報. 2006.11; 25 (2): 25-30.

鹿島田 健一: 【血糖調節from A to Z】　2000-2004 Year Book　最近の論文から学ぶ糖尿病関連事項 小児科診療. 2005.10; 68 (10): 1901-1908.

野田 政樹, 辻 邦和, 石島 旨章, 臼井 通彦, 高本 真弥, 鹿島田 健一, 二藤 彰: 【骨粗鬆症　最新の成因研究と治療動向】　骨代謝の分子生物学　骨のリモデリング 日本臨床. 2002.03; 60 (3): 34-39.

野田 政樹, 鹿島田 健一, 前田 由紀子, 湯本 健司, 辻 邦和, 二藤 彰: 【期待される移植　再生医療　現状と展望】　再生医療の最前線　骨再生 小児内科. 2002.01; 34 (1): 104-109.

M Noda, K Kashimada, M Takamoto, K Yumoto, Y Maeda, M Usui, M Ishijima: [The meaning of phosphate in bone formation]. Clin Calcium. 2001.10; 11 (10): 1315-1320. ( PubMed , DOI )

野田 政樹, 鹿島田 健一, 高本 真弥, 湯本 健司, 前田 由紀子, 臼井 通彦, 石島 旨章: 【リンの代謝とその制御】　骨形成におけるリンの意義 Clinical Calcium. 2001.09; 11 (10): 1315-1320.

M Noda, K Nomura, Y Asou, H Nemoto, M Ishijima, M Takamoto, M Usui, K Kashimada: [Bone metabolism and angiogenesis]. Clin Calcium. 2001.04; 11 (4): 404-410. ( PubMed , DOI )

野田 政樹, 野村 和弘, 麻生 義則, 根本 啓行, 石島 旨章, 高本 真弥, 臼井 通彦, 鹿島田 健一: 【遺伝子とカルシウム　血管と骨を制御する遺伝子とその異常】　骨代謝と血管新生 Clinical Calcium . 2001.03; 11 (4): 404-410.