Domoto A, Kuniyoshi K, Suga A, Mizobuchi K, Yoshitake K, Kawai Y, Omae Y, Tokunaga K, Sawa M, Hayashi T, Mano F, Sakamoto M, Iwahashi C, Nakano T, Iwata T, Kusaka S. A de novo splice-site variant in the retinitis pigmentosa 2 (RP2) gene identified in a symptomatic carrier woman. Ophthalmic Genet. 2025 Dec 16, Online ahead of print.

Zhang L, Cai S, Teng A, Lin L, Han F, Yan H, Hong SC, Pizza F, Plazzi G, Morandi L, Stefani A, Högl B, Lecendreux M, Bourgin P, Arnulf I, Knudsen-Heier S, Kanbayashi T, Huang YS, Jennum P, Sonka K, Nevsimalova S, Honda M, Coelho FM, Pelin Z, Ferini-Strambi L, Miyagawa T, Khor SS, Tokunaga K, Liu W, and Mignot EJ: HLA-DQB1*03:01 strongly affects age of onset of type 1 narcolepsy independently of DQA1 and ethnicity. Proc. Natl. Acad. Sci. USA 122(50): e2513989122, 2025.

Nagasaki M, Katayama T, Moriya Y, Sekiya Y, Kawashima S, Teraoka R, Machida S, Matsubara T, Hashimoto H, Asakura A, Nagano A, Yamashita R, Takada T, Mitsuhashi N, Kamada M, Ohkawa Y, Tokunaga K, and Kawai Y; Variant Information Standardization Collegium: JoGo 1.0: the ACTG hierarchical nomenclature and database covering 4.7 million haplotypes across 19,194 human genes. Nucleic Acids Res. 2025 Nov 29. Online ahead of print.

Yazaki S, Kitadai R, Momozawa Y, Yoshida T, Yamanaka T, Shiino S, Yamauchi C, Harano K, Saito M, Hirotsu Y, Aiba H, Hamamoto R, Shimizu C, Shimomura A, Shimoi T, Sudo K, Yoshida M, Sunami K, Shiraishi Y, Kuchiba A, Hori M, Katanoda K, Takata S, Ogawa A, Torasawa M, Mochizuki A, Shimada Y, Hiranuma K, Fujii E, Hirata M, Yamashita Y, Kogawa T, Murata T, Fujiwara S, Miyagi Y, Nakagomi H, Tachibana K, Matsuda K, Murakami Y, Tokunaga K, Kawai Y; NCBN Controls WGS Consortium; Project BJ, Omata M, Ohtake T, Suto A, Onishi T, Naito Y, Yamashita T, Yonemori K, Kohno T, and Shiraishi K: Germline variants of the POLH and RAD51 genes are candidate variants associated with risk of hormone receptor-negative young-onset breast cancer. NPJ Breast Cancer 11(2):133, 2025.

Orimo K, Matsukawa T, Shiomi K, Goto R, Mitsutake A, Kuromi Y, Matsuda N, Kanai K, Kurokawa R, Ishiura H, Mitsui J, Nomoto J, Tanaka M, Omae Y, Kawai Y, Tokunaga K, Tsuji S, and Toda T. Two Japanese families with adult-onset leukoencephalopathy caused by pathogenic variants in CST3. J. Neurol. Sci. 478: 1223708, 2025.

Shimada M, Honda M, Honda Y, Kodama T, Hitomi Y, Tokunaga K, and Miyagawa T: DNA methylation and multi-omics profiling of T cells uncovers chemotactic pathways and proliferation-linked hypomethylation in narcolepsy type 1. Sleep. 48(12): zsaf278, 2025.

Park K, Kim H, Huh HJ, Namkoong H, Hasegawa N, Nishimura T, Asakura T, Morimoto K, Kurashima A, Omae Y, Kawai Y, Tokunaga K, Berghout J, Fennelly KP, Holland SM, Cho J, Yim JJ, Won S, Jhun BW, and Won HH: Novel genetic loci for nontuberculous mycobacterial pulmonary disease and potential protective effect of body mass index. Am. J. Respir. Crit. Care Med. 211(11): 2191-2202, 2025.

Terakawa K, Katagiri D, Asai Y, Ishikane M, Ohmagari N, Suzuki M, Hojo M, Takano H, Tokunaga K, Sugaya T, and Noiri E: A retrospective cohort study evaluating the predictive value of urinary L-FABP combined with the SOFA score for assessing COVID-19 severity. PLoS One. 20(9): e0331558.

Bhak Y, Raptis V, He Y, Nakanishi T, Macdonald-Dunlop E, Sagiya Y, Morisaki T, Matsuda K: BioBank Japan Project; Japan COVID-19 Task Force; Kanai A, Suzuki Y, Oda Y, Kamatani Y, Namkoong H, Saiki R, Kimura A, Koike R, Ogawa S, Miyano S, Imoto S, Kanai T, Fukunaga K, Okada Y, Mälarstig A, and Tenesa A: Identification and replication of sex-dimorphic protein quantitative trait loci across multiple ancestries and their associations with diseases. Sci. Rep. 15(1): 31721, 2025.

Hamanaka K, Fujita A, Miyatake S, Misawa K, Koshimizu E, Uchiyama Y, Tsuchida N, Seyama R, Sakamoto M, Iwama K, Nishimura N, Utsuno Y, Fu L, Takizawa M, Liang Q, Itai T, Saida K, Ohori S, Kameyama S, Fukuda H, Hayashi Y, Inoue Y, Goto T, Ichikawa K, Kuki I, Fukuoka M, Kim K, Shiohama T, Shimoda K, Otsuka K, Ueda Y, Cho K, Yuge K, Tachi N, Yoshida M, Daida A, Hirasawa K, Yanagishita T, Yamamoto T, Shirai K, Mehr TF, Fattal-Valevski A, Lev D, Yokoyama H, Iwabuchi E, Saito Y, Miura M, Sugai K, Ishiyama A, Sasaki M, Watanabe Y, Takanashi JI, Kim CA, Yokochi K, Tohyama J, Mori T, Izumi Y, Hasegawa Y, Okamoto N, Ikeda T, Osaka H, Kawai Y, Omae Y, Tokunaga K, Kato M, Mizuguchi T, and Matsumoto N: Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay. NPJ Genom. Med. 10(1): 60, 2025.

Kulmanov M, Ashouri S, Liu Y, Abdelhakim M, Alsolme E, Nagasaki M, Ohkawa Y, Suzuki Y, Tawfiq R, Tokunaga K, Katayama T, Abedalthagafi MS, Hoehndorf R, and Kawai Y: Phased genome assemblies and pangenome graphs of human populations of Japan and Saudi Arabia. Sci. Data 12(1): 1316, 2025.

Sugiyama M, Nishida N, Khor SS, Shin-I T, Hino K, Honda M, Kaneko S, Yatsuhashi H, Koike K, Kurosaki M, Izumi N, Tanaka Y, Murata K, Kang JH, Tanaka E, Taketomi A, Eguchi Y, Suda G, Sakamoto N, Yamamoto K, Tamori A, Hige S, Itoh Y, Mochida S, Mita E, Ide T, Hiasa Y, Watanabe M, Yamamoto K, Sakai A, Wakita T, Mizokami M, and Tokunaga K: Human leukocyte antigen genotypes affect hepatitis B virus mutations associated with hepatocellular carcinoma. Hepatol. Res. 55(11): 1445-1453, 2025.

Edahiro R, Sato G, Naito T, Shirai Y, Saiki R, Sonehara K, Tomofuji Y, Yamamoto K, Namba S, Sasa N, Nagao G, Wang QS, Takahashi Y, Hasegawa T, Kishikawa T, Suzuki K, Liu YC, Motooka D, Takuwa A, Tanaka H, Azekawa S; Japan COVID-19 Task Force; Namkoong H, Koike R, Kimura A, Imoto S, Miyano S, Kanai T, Fukunaga K, Uemura M, Morita T, Kato Y, Hirata H, Takeda Y, Doki Y, Eguchi H, Okuzaki D, Sakakibara S, Ogawa S, Kumanogoh A, and Okada Y: Deciphering state-dependent immune features from multi-layer omics data at single-cell resolution. Nat. Genet. 57(8): 1905-1921, 2025.

Cho H, Shiraishi K, Sunami K, Momozawa Y, Yoshida T, Matsumoto S, Matsuda K, Saito M, Goto A, Honda T, Mochizuki A, Torasawa M, Daigo Y, Shimizu K, Kunitoh H, Yoshida Y, Hirata M, Shimada Y, Ueki M, Ono H, Gotoh M, Igawa YS, Tateishi A, Yamaguchi Y, Higashiyama RI, Machida E, Iwasaki M, Kawai Y, Yasuda H, Hamamoto J, Imoto I, Matsushita H, Takata S, Aoi T, Kaneko S, Kuchiba A, Shimomura A, Fukami M, Hattori K, Ozaki K, Asano Y; NCBN Controls WGS Consortium; Project BJ, Takano A, Kobayashi M, Miyagi Y, Tanaka K, Suzuki H, Yamaura T, Yoshida T, Goto Y, Horinouchi H, Miyazaki Y, Ito H, Nagashima T, Ohtaki Y, Imai K, Minamiya Y, Okubo K, Inazawa J, Shiraishi Y, Tokunaga K, Kamatani Y, Yatabe Y, Goto K, Tsuboi M, Watanabe SI, Ohe Y, Murakami Y, Matsuo K, Hamamoto R, and Kohno T: Genomic profiles of pathogenic and moderate-penetrance germline variants associated with risk of early-onset lung adenocarcinoma. J. Thorac. Oncol. 20(11): 1626-1638, 2025.

Yazaki S, Hori M, Aiba H, Momozawa Y, Yoshida M, Shiino S, Harano K, Yamauchi C, Yamanaka T, Miwa M, Matsuda K, Kawai Y, Kobayashi-Kato M, Kitagawa M, Saito M, Nakagomi H, Tachibana K, Sakamoto I, Takahashi K, Asami Y, Katanoda K, Kuchiba A, Yoshida H, Ishikawa M, Shimoi T, Sudo K, Shimizu C, Shimomura A, Murata T, Yamashita Y, Kogawa T, Fujiwara S, Saji H, Kato H, Miyagi E, Iwasaki Y, Aoi T, Takata S, Ogasawara A, Ohtake T, Fujimori K, Hirotsu Y, Nagashima M, Komatsu M, Hamamoto R, Hirata M, Yoshida T, Honda T, Hiranuma K, Matsuda M, Shimada Y, Sunami K, Noiri E, Omae Y, Matsumoto K, Okamoto A, Omata M, Watanabe T, Miyagi Y, Murakami Y, Tokunaga K, Hasegawa K, Kato T, Onishi T, Yamashita T, Naito Y, Suto A, Yonemori K, Kohno T, Shiraisihi K; BioBank Japan Project; NCBN Controls WGS Consortium: Impact of germline variants on breast and ovarian cancer risk in Japanese women: an original cohort study and meta-analysis. EBioMedicine 116: 105758, 2025.

Gusareva ES, Ghosh AG, Kharkov VN, Khor SS, Zarubin A, Moshkov N, Kalsi N, Ratan A, Heinle CE, Cooke N, Bravi CM, Smolnikova MV, Tereshchenko SY, Kasparov EW, Khitrinskaya I, Marusin A, Razhabov MO, Golubenko MV, Swarovskaya M, Kolesnikov NA, Vagaitseva KV, Eremina ER, Sukhomyasova A, Shtygasheva O, Panicker D, Ang PN, Lee CF, Koh Y, Leong ST, Park C, Lohar SR, Yap ZH, Ng SG, Dacanay J, Drautz-Moses DI, Ramli NAB, Tokunaga K, McGonigle I, Danjoh I, Moreno-Estrada A, Tajima A, Tanabe H, Nakamura Y, Nakagome S, Tatarinova TV, Stepanov VA, Schuster SC, and Kim HL: From North Asia to South America: Tracing the longest human migration through genomic sequencing. Science 388(6748): eadk5081, 2025.

Khor SS, Hirayasu K, Kawai Y, Kim HL, Nagasaki M, and Tokunaga K: LILR genotype imputation with attribute bagging (LIBAG): leukocyte immunoglobulin-like receptor copy number imputation system. Front. Immunol. 16: 1559301, 2025.

Omae Y, Khor SS, Shimada M, Kawai Y, Yamaguchi T, Yagi M, Ebisawa M, Takeuchi JS, Mizoue T, Sugiura W, and Tokunaga K: Genome-wide association study of common side effects following COVID-19 booster vaccination in a cohort of corporate employees in Japan. Sci. Rep. 15(1): 12728, 2025.

Orimo K, Matsukawa T, Mitsutake A, Cho T, Naruse H, Sakiyama Y, Sumi K, Uchio N, Satake A, Takiyama Y, Matsushita T, Omae Y, Kawai Y, Tokunaga K, Mitsui J, Ishiura H, Tsuji S, and Toda T: Clinical, neuroimaging and genetic findings in the Japanese case series of CLCN2-related leukoencephalopathy. J. Neurol. Sci. 472: 123486, 2025.

Kasamatsu A, Miyahara R, Yoneoka D, Toyo-Oka L, Chiyasirinroje B, Imsanguan W, Suvichapanich S, Yanai H, Wattnapokayakit S, Nedsuwan S, Boonbangyang M, Palittapongarnpim P, Tokunaga K, Mushiroda T, and Mahasirimongkol S: One-year mortality of tuberculosis patients on isoniazid-based treatment and its association with rapid acetylator NAT2 genotypes. Int. Infect. Dis. 155: 107895, 2025.

Ozawa T, Chubachi S, Namkoong H, Nemoto S, Ikegami R, Asakura T, Tanaka H, Lee H, Fukushima T, Azekawa S, Otake S, Nakagawara K, Watase M, Masaki K, Kamata H, Harada N, Ueda T, Ueda S, Ishiguro T, Arimura K, Saito F, Yoshiyama T, Nakano Y, Muto Y, Suzuki Y, Edahiro R, Murakami K, Sato Y, Okada Y, Koike R, Ishii M, Hasegawa N, Kitagawa Y, Tokunaga K, Kimura A, Miyano S, Ogawa S, Kanai T, Fukunaga K, and Imoto S: Predicting coronavirus disease 2019 severity using explainable artificial intelligence techniques. Sci. Rep. 15(1): 9459, 2025.

Nagasaki M, Hirayasu K, Khor SS, Otokozawa R, Sekiya Y, Kawai Y, and Tokunaga K: JoGo-LILR caller: Unveiling and navigating the complex diversity of LILRB3-LILRA6 copy number haplotype structures with whole-genome sequencing. Hum. Immunol. 86(3): 111272, 2025.