Kusumoto T, Chubachi S, Namkoong H, Tanaka H, Lee H, Otake S, Nakagawara K, Fukushima T, Morita A, Watase M, Asakura T, Masaki K, Kamata H, Ishii M, Hasegawa N, Harada N, Ueda T, Ueda S, Ishiguro T, Arimura K, Saito F, Yoshiyama T, Nakano Y, Mutoh Y, Suzuki Y, Edahiro R, Murakami K, Sato Y, Okada Y, Koike R, Kitagawa Y, Tokunaga K, Kimura A, Imoto S, Miyano S, Ogawa S, Kanai T, and Fukunaga K: Characteristics of patients with COVID-19 who have deteriorating chest X-ray findings within 48 h: a retrospective cohort study. Sci. Rep. 13(1): 22054, 2023.

Kawai Y, Watanabe Y, Omae Y, Miyahara R, Khor SS, Noiri E, Kitajima K, Shimanuki H, Gatanaga H, Hata K, Hattori K, Iida A, Ishibashi-Ueda H, Kaname T, Kanto T, Matsumura R, Miyo K, Noguchi M, Ozaki K, Sugiyama M, Takahashi A, Tokuda H, Tomita T, Umezawa A, Watanabe H, Yoshida S, Goto YI, Maruoka Y, Matsubara Y, Niida S, Mizokami M, and Tokunaga K: Exploring the genetic diversity of the Japanese population: Insights from a large-scale whole genome sequencing analysis. PLoS Genet. 19(12): e1010625, 2023.

Tachikawa K, Shimizu T, Imai T, Ko R, Kawai Y, Omae Y, Tokunaga K, Frith MC, Yamano Y, and Mitsuhashi S: Cost-effective cas9-mediated targeted sequencing of spinocerebellar ataxia repeat expansions. J. Mol. Diagn. 2023 Nov. Online ahead of print.

Hitomi Y, Ueno K, Aiba Y, Nishida N, Kawai Y, Kawashima M, Khor SS, Takada S, Iwabuchi C, Nagasaki M, Tokunaga K, and Nakamura M: rs10924104 in the expression enhancer motif of CD58 confers susceptibility to human autoimmune diseases. Hum. Genet. 2023 Nov. Online ahead of print.

Jung ES, Ellinghaus D, Degenhardt F, Meguro A, Khor SS, Mucha S, Wendorff M, Juzenas S, Mizuki N, Tokunaga K, Kim SW, Lee MG, Schreiber S, Kim WH, Franke A, and Cheon JH: Genome-wide association analysis reveals the associations of NPHP4, TYW1-AUTS2 and SEMA6D for Behcet's disease and HLA-B*46:01 for its intestinal involvement. Dig. Liver Dis. 2023 Nov. Online ahead of print.

COVID-19 Host Genetics Initiative: A second update on mapping the human genetic architecture of COVID-19. Nature. 621(7977): E7-E26, 2023.

Kusumoto T, Chubachi S, Namkoong H, Tanaka H, Lee H, Azekawa S, Otake S, Nakagawara K, Fukushima T, Morita A, Watase M, Sakurai K, Asakura T, Masaki K, Kamata H, Ishii M, Hasegawa N, Harada N, Ueda T, Ueda S, Ishiguro T, Arimura K, Saito F, Yoshiyama T, Nakano Y, Mutoh Y, Suzuki Y, Edahiro R, Sano H, Sato Y, Okada Y, Koike R, Kitagawa Y, Tokunaga K, Kimura A, Imoto S, Miyano S, Ogawa S, Kanai T, and Fukunaga K: Association between ABO blood group/genotype and COVID-19 in a Japanese population. Ann. Hematol. 102(11): 3239-3249, 2023.

Koganebuchi K, Matsunami M, Imamura M, Kawai Y, Hitomi Y, Tokunaga K, Maeda S, Ishida H, and Kimura R: Demographic history of Ryukyu islanders at the southern part of the Japanese Archipelago inferred from whole-genome resequencing data. J. Hum. Genet. 68(11): 759-767, 2023.

Shimoda F, Naito T, Kakuta Y, Kawai Y, Tokunaga K; NCBN Controls WGS Consortium; Shimoyama Y, Moroi R, Shiga H, Nagasaki M, Kinouchi Y, and Masamune A: HLA-DQA1*05 and upstream variants of PPARGC1B are associated with infliximab persistence in Japanese Crohn's disease patients. Pharmacogenomics J. 23(6): 141-148, 2023.

Nakahara Y, Mitsui J, Date H, Porto KJ, Hayashi Y, Yamashita A, Kusakabe Y, Matsukawa T, Ishiura H, Yasuda T, Iwata A, Goto J, Ichikawa Y, Momose Y, Takahashi Y, Toda T, Ohta R, Yoshimura J, Morishita S, Gustavsson EK, Christy D, Maczis M, Farrer MJ, Kim HJ, Park SS, Jeon B, Zhang J, Gu W, Scholz SW, Singleton AB, Houlden H, Yabe I, Sasaki H, Matsushima M, Takashima H, Kikuchi A, Aoki M, Hara K, Kakita A, Yamada M, Takahashi H, Onodera O, Nishizawa M, Watanabe H, Ito M, Sobue G, Ishikawa K, Mizusawa H, Kanai K, Kuwabara S, Arai K, Koyano S, Kuroiwa Y, Hasegawa K, Yuasa T, Yasui K, Nakashima K, Ito H, Izumi Y, Kaji R, Kato T, Kusunoki S, Osaki Y, Horiuchi M, Yamamoto K, Shimada M, Miyagawa T, Kawai Y, Nishida N, Tokunaga K, Durr A, Brice A, Filla A, Klockgether T, Wullner U, Tanner CM, Kukull WA, Lee VM, Masliah E, Low PA, Sandroni P, Ozelius L, Foroud T, and Tsuji S: Genome-wide association study identifies a new susceptibility locus in PLA2G4C for multiple system atrophy. medRxiv. 2023 May.

Yoshida-Tanaka K, Shimada M, Honda Y, Fujimoto A, Tokunaga K, Honda M, and Miyagawa T: Narcolepsy type I-associated DNA methylation and gene expression changes in the human leukocyte antigen region. Sci. Rep. 13(1): 10464, 2023.

Nishimura-Kinoshita N, Ohata Y, Sawai H, Izawa M, Takeyari S, Kubota T, Omae Y, Ozono K, Tokunaga K, and Hamajima T: A case of hyperphosphatemic familial tumoral calcinosis due to maternal uniparental disomy of a GALNT3 variant. Clin. Pediatr. Endocrinol. 32(3): 161-167, 2023.

Khor SS, Ueno K, Nishida N, Kawashima M, Kawai Y, Aiba Y, Hitomi Y, Nagasaki M, Nakamura M, and Tokunaga K: Novel HLA allele associations with susceptibility, staging, symptomatic state, autoimmune hepatitis and hepatocellular carcinoma events for primary biliary cholangitis in the Japanese population. Front. Immunol. 14:1151502, 2023.

Ollila HM, Sharon E, Lin L, Sinnott-Armstrong N, Ambati A, Yogeshwar SM, Hillary RP, Jolanki O, Faraco J, Einen M, Luo G, Zhang J, Han F, Yan H, Dong XS, Li J, Zhang J, Hong SC, Kim TW, Dauvilliers Y, Barateau L, Lammers GJ, Fronczek R, Mayer G, Santamaria J, Arnulf I, Knudsen-Heier S, Bredahl MKL, Thorsby PM, Plazzi G, Pizza F, Moresco M, Crowe C, Van den Eeden SK, Lecendreux M, Bourgin P, Kanbayashi T, Martinez-Orozco FJ, Peraita-Adrados R, Beneto A, Montplaisir J, Desautels A, Huang YS; FinnGen; Jennum P, Nevsimalova S, Kemlink D, Iranzo A, Overeem S, Wierzbicka A, Geisler P, Sonka K, Honda M, Hogl B, Stefani A, Coelho FM, Mantovani V, Feketeova E, Wadelius M, Eriksson N, Smedje H, Hallberg P, Hesla PE, Rye D, Pelin Z, Ferini-Strambi L, Bassetti CL, Mathis J, Khatami R, Aran A, Nampoothiri S, Olsson T, Kockum I, Partinen M, Perola M, Kornum BR, Rueger S, Winkelmann J, Miyagawa T, Toyoda H, Khor SS, Shimada M, Tokunaga K, Rivas M, Pritchard JK, Risch N, Kutalik Z, O'Hara R, Hallmayer J, Ye CJ, and Mignot EJ: Narcolepsy risk loci outline role of T cell autoimmunity and infectious triggers in narcolepsy. Nat. Commun. 14(1): 2709, 2023.

Liu Z, Liu R, Gao H, Jung S, Gao X, Sun R, Liu X, Kim Y, Lee HS, Kawai Y, Nagasaki M, Umeno J, Tokunaga K, Kinouchi Y, Masamune A, Shi W, Shen C, Guo Z, Yuan K; FinnGen; International Inflammatory Bowel Disease Genetics Consortium; Chinese Inflammatory Bowel Disease Genetics Consortium; Zhu S, Li D, Liu J, Ge T, Cho J, Daly MJ, McGovern DPB, Ye BD, Song K, Kakuta Y, Li M, and Huang H: Genetic architecture of the inflammatory bowel diseases across East Asian and European ancestries. Nat. Genet. 55(5): 796-806, 2023.

Yagasaki K, Nishida N, Mabuchi A, Tokunaga K, and Fujimoto A: Development of a novel microarray data analysis tool without normalization for genotyping degraded forensic DNA. Forensic Sci. Int. Genet. 65: 102885, 2023.

Ozawa T, Asakura T, Chubachi S, Namkoong H, Tanaka H, Lee K, Fukushima T, Otake S, Nakagawara K, Watase M, Masaki K, Kamata H, Ishii M, Hasegawa N, Harada N, Ueda T, Ueda S, Ishiguro T, Arimura K, Saito F, Yoshiyama T, Nakano Y, Mutoh Y, Suzuki Y, Edahiro R, Murakami K, Okada Y, Koike R, Kitagawa Y, Tokunaga K, Kimura A, Imoto S, Miyano S, Ogawa S, Kanai T, Fukunaga K; Japan COVID-19 Task Force: Use of the neutrophil-to-lymphocyte ratio and an oxygen requirement to predict disease severity in patients with COVID-19. Respir. Investing. 61(4): 454-459, 2023.

Barry A, McNulty MT, Jia X, Gupta Y, Debiec H, Luo Y, Nagano C, Horinouchi T, Jung S, Colucci M, Ahram DF, Mitrotti A, Sinha A, Teeninga N, Jin G, Shril S, Caridi G, Bodria M, Lim TY, Westland R, Zanoni F, Marasa M, Turudic D, Giordano M, Gesualdo L, Magistroni R, Pisani I, Fiaccadori E, Reiterova J, Maringhini S, Morello W, Montini G, Weng PL, Scolari F, Saraga M, Tasic V, Santoro D, van Wijk JAE, Milošević D, Kawai Y, Kiryluk K, Pollak MR, Gharavi A, Lin F, Simœs E Silva AC, Loos RJF, Kenny EE, Schreuder MF, Zurowska A, Dossier C, Ariceta G, Drozynska-Duklas M, Hogan J, Jankauskiene A, Hildebrandt F, Prikhodina L, Song K, Bagga A, Cheong H 2nd, Ghiggeri GM, Vachvanichsanong P, Nozu K, Lee D, Vivarelli M, Raychaudhuri S, Tokunaga K, Sanna-Cherchi S, Ronco P, Iijima K, and Sampson MG: Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome. Nat. Commun. 14(1): 2481, 2023.

Nakagawara K, Kamata H, Chubachi S, Namkoong H, Tanaka H, Lee H, Otake S, Fukushima T, Kusumoto T, Morita A, Azekawa S, Watase M, Asakura T, Masaki K, Ishii M, Endo A, Koike R, Ishikura H, Takata T, Matsushita Y, Harada N, Kokutou H, Yoshiyama T, Kataoka K, Mutoh Y, Miyawaki M, Ueda S, Ono H, Ono T, Shoko T, Muranaka H, Kawamura K, Mori N, Mochimaru T, Fukui M, Chihara Y, Nagasaki Y, Okamoto M, Amishima M, Odani T, Tani M, Nishi K, Shirai Y, Edahiro R, Ando A, Hashimoto N, Ogura S, Kitagawa Y, Kita T, Kagaya T, Kimura Y, Miyazawa N, Tsuchida T, Fujitani S, Murakami K, Sano H, Sato Y, Tanino Y, Otsuki R, Mashimo S, Kuramochi M, Hosoda Y, Hasegawa Y, Ueda T, Takaku Y, Ishiguro T, Fujiwara A, Kuwahara N, Kitamura H, Hagiwara E, Nakamori Y, Saito F, Kono Y, Abe S, Ishii T, Ohba T, Kusaka Y, Watanabe H, Masuda M, Watanabe H, Kimizuka Y, Kawana A, Kasamatsu Y, Hashimoto S, Okada Y, Takano T, Katayama K, Ai M, Kumanogoh A, Sato T, Tokunaga K, Imoto S, Kitagawa Y, Kimura A, Miyano S, Hasegawa N, Ogawa S, Kanai T, Fukunaga K; Japan COVID-19 Task Force: Impact of respiratory bacterial infections on mortality in Japanese patients with COVID-19: a retrospective cohort study. BMC. Pulm. Med. 23(1): 146, 2023.

Edahiro R, Shirai Y, Takeshima Y, Sakakibara S, Yamaguchi Y, Murakami T, Morita T, Kato Y, Liu YC, Motooka D, Naito Y, Takuwa A, Sugihara F, Tanaka K, Wing JB, Sonehara K, Tomofuji Y; Japan COVID-19 Task Force; Namkoong H, Tanaka H, Lee H, Fukunaga K, Hirata H, Takeda Y, Okuzaki D, Kumanogoh A, and Okada Y: Single-cell analyses and host genetics highlight the role of innate immune cells in COVID-19 severity. Nat. Genet. 55(5): 753-767, 2023.

Taniguchi Y, Akune T, Nishida N, Omori G, Ha K, Ueno K, Saito T, Oichi T, Koike A, Mabuchi A, Oka H, Muraki S, Oshima Y, Kawaguchi H, Nakamura K, Tokunaga K, Tanaka S, and Yoshimura N: A common variant rs2054564 in ADAMST17 is associated with susceptibility to lumbar spondylosis. Sci. Rep. 13(1): 4900, 2023.

Katagiri D, Asai Y, Ohmagari N, Ishikane M, Hikida S, Iwamoto N, Nagashima M, Suzuki M, Takano H, Takasaki J, Hojo M, Sugiyama H, Tokunaga K, Miyashita Y, Omata M, Ohata K, Bliden KP, Tantry US, Dahlen JR, Sugaya T, Gurbel PA, and Noiri E: Urinary L-type fatty acid-binding protein predicts oxygen demand of COVID-19 in initially mild cases. Crit. Care Explor. 5(3): e0873, 2023.

Mori Y, Ueno K, Chiba D, Hashimoto K, Kawai Y, Baba K, Tanaka H, Aki T, Ogasawara M, Shibasaki N, Tokunaga K, Aizawa T, and Nagasaki M: Genome-wide association study and transcriptome of Japanese patients with developmental dysplasia of the hip demonstrates an association with the ferroptosis signaling pathway. Int. J. Mol. Sci. 24(5): 5019, 2023.

Nishida N, Ohashi J, Suda G, Chiyoda T, Tamaki N, Tomiyama T, Ogasawara S, Sugiyama M, Kawai Y, Khor SS, Nagasaki M, Fujimoto A, Tsuchiura T, Ishikawa M, Matsuda K, Yano H, Yoshizumi T, Izumi N, Hasegawa K, Sakamoto N, Mizokami M, and Tokunaga K: Prediction model with HLA-A*33:03 reveals number of days to develop liver cancer from blood test. Int. J. Mol. Sci. 24(5): 4761, 2023.

Miyahara R, Piboonsiri P, Chiyasirinroje B, Imsanguan W, Nedsuwan S, Yanai H, Tokunaga K, Palittapongarnpim P, Murray M, and Mahasirimongkol S: Risk for Prison-to-Community Tuberculosis Transmission, Thailand, 2017-2020. Emerg. Infect. Dis. 29(3): 477-483, 2023.

Nagasaki M, Sekiya Y, Asakura A, Teraoka R, Otokozawa R, Hashimoto H, Kawaguchi T, Fukazawa K, Inadomi Y, Murata KT, Ohkawa Y, Yamaguchi I, Mizuhara T, Tokunaga K, Sekiya Y, Hanawa T, Yamada R. and Matsuda F: Design and implementation of a hybrid cloud system for large-scale human genomic research. Hum. Genome Var. 10(1): 6, 2023.

Phelan J, Gomez-Gonzalez PJ, Andreu N, Omae Y, Toyo-Oka L, Yanai H, Miyahara R, Nedsuwan S, de Sessions PF, Campino S, Sallah N, Parkhill J, Smittipat N, Palittapongarnpim P, Mushiroda T, Kubo M, Tokunaga K, Mahasirimongkol S, Hibberd ML, and Clark TG: Genome-wide host-pathogen analyses reveal genetic interaction points in tuberculosis disease. Nat. Commun. 14(1): 549, 2023.

Nakagawara K, Kamata H, Chubachi S, Namkoong H, Tanaka H, Lee H, Otake S, Fukushima T, Kusumoto T, Morita A, Azekawa S, Watase M, Asakura T, Masaki K, Ishii M, Endo A, Koike R, Ishikura H, Takata T, Matsushita Y, Harada N, Kokutou H, Yoshiyama T, Kataoka K, Mutoh Y, Miyawaki M, Ueda S, Ono H, Ono T, Shoko T, Muranaka H, Kawamura K, Mori N, Mochimaru T, Fukui M, Chihara Y, Nagasaki Y, Okamoto M, Amishima M, Odani T, Tani M, Nishi K, Shirai Y, Edahiro R, Ando A, Hashimoto N, Ogura S, Kitagawa Y, Kita T, Kagaya T, Kimura Y, Miyazawa N, Tsuchida T, Fujitani S, Murakami K, Sano H, Sato Y, Tanino Y, Otsuki R, Mashimo S, Kuramochi M, Hosoda Y, Hasegawa Y, Ueda T, Takaku Y, Ishiguro T, Fujiwara A, Kuwahara N, Kitamura H, Hagiwara E, Nakamori Y, Saito F, Kono Y, Abe S, Ishii T, Ohba T, Kusaka Y, Watanabe H, Masuda M, Watanabe H, Kimizuka Y, Kawana A, Kasamatsu Y, Hashimoto S, Okada Y, Takano T, Katayama K, Ai M, Kumanogoh A, Sato T, Tokunaga K, Imoto S, Kitagawa Y, Kimura A, Miyano S, Hasegawa N, Ogawa S, Kanai T, Fukunaga K; Japan COVID-19 Task Force: Diagnostic significance of secondary bacteremia in patients with COVID-19. J. Infect. Chemother. 29(4): 422-426, 2023.

Watase M, Masaki K, Chubachi S, Namkoong H, Tanaka H, Lee H, Fukushima T, Otake S, Nakagawara K, Kusumoto T, Asakura T, Kamata H, Ishii M, Hasegawa N, Oyamada Y, Harada N, Ueda T, Ueda S, Ishiguro T, Arimura K, Saito F, Yoshiyama T, Nakano Y, Mutoh Y, Suzuki Y, Edahiro R, Sano H, Sato Y, Okada Y, Koike R, Kitagawa Y, Tokunaga K, Kimura A, Imoto S, Miyano S, Ogawa S, Kanai T, Fukunaga K; Japan COVID-19 Task Force: Impact of accumulative smoking exposure and chronic obstructive pulmonary disease on COVID-19 outcomes: Report based on findings from the Japan COVID-19 Task Force. Int. J. Infect. Dis. 128: 121-127, 2023.