Kong SY, and Kim JY. Protective association of HLA-DRB1*1302, HLA-DRB1*0406 and HLA-DQB1*0604 alleles with cervical cancer in a Korean population. Hum. Immunol. 80(2): 107-111, 2019.

Hitomi Y, Nakatani K, Kojima K, Nishida N, Kawai Y, Kawashima M, Aiba Y, Nagasaki M, Nakamura M, and Tokunaga K. NFKB1 and MANBA confer disease-susceptibility to primary biliary cholangitis via independent putative primary functional variants. Cell Mol. Gastroenter. Hepatol. 7(3): 515-532, 2019.

Kawabata Y, Nishida N, Awata T, Kawasaki E, Imagawa A, Shimada A, Osawa H, Tanaka S, Takahashi K, Nagata M, Yasuda H, Uchigata Y, Kajio H, Makino H, Yasuda K, Kobayashi T, Hanafusa T, Tokunaga K, and Ikegami H. A genome-wide association study confirming a strong effect of HLA and identifying variants in CSAD/Inc-ITGB7-1 on chromosome 12q13.13 associated with susceptibility to fulminant type 1 diabetes. Diabetes 68(3): 665-675, 2019.

Hitomi Y, Ueno K, Kawai Y, Nishida N, Kojima K, Kawashima M, Aiba Y, Nakamura H, Kouno H, Kouno H, Ohta H, Sugi K, Nikami T, Yamashita T, Katsushima S, Komeda T, Ario K, Naganuma A, Shimada M, Hirashima N, Yoshizawa K, Makita F, Furuta K, Kikuchi M, Naeshiro N, Takahashi H, Mano Y, Yamashita H, Matsushita K, Tsunematsu S, Yabuuchi I, Nishimura H, Shimada Y, Yamauchi K, Komatsu T, Sugimoto R, Sakai H, Mita E, Koda M, Nakamura Y, Kamitsukasa H, Sato T, Nakamuta M, Masaki N, Takikawa H, Tanaka A, Ohira H, Zeniya M, Abe M, Kaneko S, Honda M, Arai K, Arinaga-Hino T, Hashimoto E, Makiko Taniai, Takeji Umemura, Satoru Joshita, Kazuhiko Nakao, Ichikawa T, Shibata H, Takaki A, Yamagiwa S, Seike M, Sakisaka S, Takeyama Y, Harada M, Senju M, Yokosuka O, Kanda T, Ueno Y, Ebinuma H, Himoto T, Murata K, Shimoda S, Nagaoka S, Abiru S, Komori A, Migita K, Ito M, Yatsuhashi H, Maehara Y, Uemoto S, Kokudo N, Nagasaki M, Tokunaga K, and Nakamura M. POGLUT1, the putative effector gene driven by rs2293370 in primary biliary cholangitis susceptibility locus chromosome 3q13.33. Sci. Rep. 9(1): 102, 2019.

Mizuguchi T, Suzuki T, Abe C, Umemura A, Tokunaga K, Kawai Y, Nakamura M, Nagasaki M, Kinoshita K, Okamura Y, Miyatake S, Miyake N, and Matsumoto N. Identification of a cryptic 12-kb structural variant by long-read whole-genome sequencing in progressive myoclonic epilepsy. J. Hum. Genet. 64(5):359-368, 2019.

OsoegawaK, VayntrubT, Sabine WendaS, DeSantisD, CrearyL, MallempatiK, YamamotoF, BarsakisK, IvanovaM, HsuS, BaroneJ, HoldsworthR, DivineyM, AskarM, WillisA, RailtonD, LaflinS, GendzekhadzeK, OkiA, SacchiN, MazzoccoM, AndreaniM, AmeenR, Stavropoulos-GiokasC, Amalia DinouA, TorresM, Rodrigo dos Santos FranciscoRS, Serra-PagesC, LindellA, BalladaresS, BettinottiM, IglehartB, KashiZ, MartinR, SawCL, RagoussisI, DowningJ, NavaretteC, ChongW, SaitoY, PetrekM, TokicS, PadrosK, RodriguezMB, ZakharovaV, ShraginaO, MarinoS, BrownN, ShiinaT, SuzukiS, SpieringsE, ZhangQ, MorrisG, HernandezA, Seik-SoonK, TokunagaK, ThomasR, GeretzA, KangaU, TyagiS, MarshS, LiuX, CaoC, PenningM, HurleyC, CesbronA, MuellerC, MytilineosJ, WeimerE, BengtssonM, FischerG, MackSJ, and Fernandez-VinaM. Quality control project of NGS HLA genotyping for the 17th International HLA and Immunogenetics Workshop. Hum. Immunol. 80(4): 228-236, 2019.

Watanabe Y, Naka I, Khor S-S, Sawai H, Hitomi Y, Tokunaga K, and Ohashi J. Analysis of whole Y-chromosome sequences reveals the Japanese population history in the Jomon period. Sci. Rep. 9(1): e8556, 2019.

Wang Y-Y, Mimori T, Khor S-S, Gervais O, Kawai Y, Hitomi Y, Tokunaga K, and Nagasaki M. HLA-VBSeq v2: Improved HLA-calling accuracy with full-length Japanese class-I panel. Hum. Genome Var. 6: e29, 2019.

Omae Y, Ito S, Takeuchi M, Isa K, Ogasawara K, Kawabata K, Oda A, Kaito S, Tsuneyama H, Uchikawa M, Wada I, Ohto H, and Tokunaga K. Integrative genome analysis identified the KANNO blood group antigen as prion protein. Transfusion 59(7): 2429-2435, 2019.

Suvichapanich S, Wattanapokayakit S, Mushiroda T, Yanai H, Chuchottawon C, Kantima T, Suwankesawong W, Sonsupap C, Pannarunothai R, Tumpattanakul S, Bamrungram W, Chaiwong A, Mahasirimongkol S, Mameechai S, Panthong W, Klungtes N, Munsoo A, Chauychana U, Maneerat M, Fukunaga K, Omae Y, and Tokunaga K. Genome-wide association study confirming the association of NAT2 with susceptibility to anti-tuberculosis drug-Induced liver injury in Thai patients. Antimicrob Agents Chemother. 63(8): e02692-18, 2019.

Tashiro R, Niizuma K, Khor SS, Tokunaga K, Fujimura M, Sakata H, Endo H, Inoko H, Ogasawara K, and Tominaga T. Identification of HLA-DRB1*04:10 allele as risk allele for Japanese moyamoya disease and its association with autoimmune thyroid disease: A case-control study. PLoS One 14(8): e0220858, 2019.

Smittipat N, Miyahara R, Juthayothin T Billamas P, Dokladda K, Imsangaun W, Intralawan D, Rukseree K, Jaitrong S, Chaiyasirinrote, B, Wongyai J, Disratthakit A, Chaiprasert A, Nedsuwan S, Mahasirimongkol S, Toyo-oka L, Tokunaga K, Yamada N, Palittapongarnpim P, and Yanai H. Indo-Oceanic mycobacterium tuberculosis strains from Thailand associated with higher mortality. Int. J. Tuberc. Lung Dis. 23(9): 972-979, 2019.

Joo J*, Omae Y*, Hitomi Y* (equal contribution), Park B, Shin HJ, Yoon KA, Sawai H, Tsuiji M, Hayashi T, Kong SY, Tokunaga K, and Kim JY. The association of integration patterns of human papilloma virus and single nucleotide polymorphisms on immune- or DNA repair-related genes in cervical cancer patients. Sci. Rep. 9(1): e13132, 2019.

Ajawatanawong P, Yanai H, Smittipat N, Disratthakit A, Yamada N, Miyahara R, Nedsuwan S, Imasanguan W, Kantipong P, Chaiyasirinroje B, Wongyai J, Plitphonganphim S, Tantivitayakul P, Phelan J, Parkhill J, Clark TG, Hibberd ML, Ruangchai W, Palittapongarnpim P, Juthayothin T, Thawornwattana Y, Viratyosin W, Tongsima S, Mahasirimongkol S, Tokunaga K, and Palittapongarnpim P. A novel Ancestral Beijing sublineage of Mycobacterium tuberculosis suggests the transition site to Modern Beijing sublineages. Sci. Rep. 9(1): 13718, 2019.

Shimada M, Miyagawa T, Takeshima A, Kakita A, Toyoda H, Niizato K, Oshima K, Tokunaga K, and Honda M. Epigenome-wide association study of narcolepsy-affected lateral hypothalamic brain and overlapping DNA methylation profiles between narcolepsy and multiple sclerosis. Sleep 43(1), 2020.

Khor SS, Hitomi Y, Omae Y, Shigemori Y, Nakayama A, and Tokunaga K. Identification of the novel HLA-DQB1 allele, HLA-DQB1*05:03:01:04, in a Japanese individual. HLA 94(5): 466-468, 2019.

Khor SS, Hitomi Y, Omae Y, Shigemori Y, Nakayama A, and Tokunaga K. Discovery of the novel HLA-B allele, HLA-B*51:01:01:36 in a Japanese individual. HLA 94(5): 445-447, 2019.

Khor SS, Hitomi Y, Omae Y, Shigemori Y, Nakayama A, and Tokunaga K. Detection of the novel HLA-A allele, HLA-A*02:01:01:58, in a Japanese individual. HLA 94(5): 435-436, 2019.

Miyagawa T, Hida A, Shimada M, Uehara C, Nishino Y, Kadotani H, Uchiyama M, Ebisawa T, Inoue Y, Kamei Y, Tokunaga K, Mishima K, and Honda M. A missense variant in PER2 is associated with delayed sleep-wake phase disorder in a Japanese population. J. Hum. Genet. 64(12): 1219-1225, 2019.

Kakuta Y, Izumiyama Y, Okamoto D, Nakano T, Ichikawa R, Naito T, Moroi R, Kuroha M, Kanazawa Y, Kimura T, Shiga H, Kudo H, Minegishi N, Kawai Y, Tokunaga K, Nagasaki M, Kinouchi Y, Suzuki Y, and Masasmune A, for the MENDEL study group. High-resolution melt analysis enables simple genotyping of complicated polymorphisms of codon 18 rendering the NUDT15 diplotype. J. Gastroenterol. 55(1): 67-77, 2020.

Ueta M, Nakamura R, Saito Y, Tokunaga K, Sotozono C, Yabe T, Aihara M, Matsunaga K, and Kinoshita S. Association of HLA class I and II gene polymorphisms with acetaminophen-related Stevens-Johnson syndrome with severe ocular complications in Japanese individuals. Hum. Genome Var. 6: 50, 2019.

Yuliwulandari R, Prayuni K, Susilowati RW, Sofro ASM, Tokunaga K, and Shin JG. NAT2 slow acetylator is associated with anti-tuberculosis drug-induced liver injury severity in Indonesian population. Pharmacogenomics 20(18):1303-1311, 2019

Nakatani K, Ueta M, Khor SS, Hitomi Y, Okudaira Y, Masuya A, Wada Y, Sotozono C, Kinoshita S, Inoko H, and Tokunaga K. Identification of HLA-A*02:06:01 as the primary disease susceptibility HLA allele in cold medicine-related Stevens-Johnson syndrome with severe ocular complications by high-resolution NGS-based HLA typing. Sci. Rep. 9(1): 16240, 2019.

GenomeAsia100K Consortium. The GenomeAsia 100K Project enables genetic discoveries across Asia. Nature. 576(7785): 106-111, 2019.

Wall JD, Ratan A, Stawiski E; GenomeAsia 100K Consortium. Identification of African-Specific Admixture between Modern and Archaic Humans. Am. J. Hum. Genet. 105(6): 1254-1261, 2019.

Kakuta Y, Kawai Y, Naito T, Hirano A, Umeno J, Fuyuno Y, Liu Z, Li D, Nakano T, Izumiyama Y, Ichikawa R, Okamoto D, Nagai H, Matsumoto S, Yamamoto K, Yokoyama N, Chiba H, Shimoyama Y, Onodera M, Moroi R, Kuroha M, Kanazawa Y, Kimura T, Shiga H, Endo K, Negoro K, Yasuda J, Esaki M, Tokunaga K, Nakamura M, Matsumoto T, McGovern DPB, Nagasaki M, Kinouchi Y, Shimosegawa T, and Masamune A. A genome-wide association study identifying RAP1A as a novel susceptibility gene for Crohn’s disease in Japanese individuals. J. Crohn’s Colitis 13(5): 648-658, 2019.

Kamada M, Nakatsui M, Kojima R, Nohara S, Uchino E, Tanishima S, Sugiyama M, Kosaki K, Tokunaga K, Mizokami M, and Okuno Y. MGeND: an integrated database for Japanese clinical and genomic information. Hum Genome Var. 6: 53, 2019.

Yamasaki M, Makino T, Khor SS, Toyoda H, Miyagawa T, Liu X, Kuwabara H, Kano Y, Shimada T, Sugiyama T, Nishida H, Sugaya N, Tochigi M, Otowa T, Okazaki Y, Kaiya H, Kawamura Y, Miyashita A, Kuwano R, Kasai K, Tanii H, Sasaki T, Honda M, and Tokunaga K. Sensitivity to gene dosage and gene expression affects genes with copy number variants observed among neuropsychiatric diseases. BMC Med. Genet. 13(1): e55, 2020.

Ueno K, Aiba Y, Hitomi Y, Shimoda S, Nakamura H, Gervais O, Kawai Y, Kawashima M, Nishida N, Kojima K, Katsushima S, Naganuma A, Sugi K, Komatsu T, Mannami T, Matsushita K, Yoshizawa K, Makita F, Nikami T, Shimada Y, Nishimura H, Kawano H, Kawano H, Kitasato A, Kuroki T, Abiru S, Nagaoka S, Komori A, Yatsuhashi H, Atsushi Tanaka A, Nagasaki M, Tokunaga K, Nakamura M and PBC-GWAS Consortium in Japan. Integrated GWAS and mRNA microarray analysis identified IFNG and CD40L as the central upstream regulators in primary biliary cholangitis. Hepatol. Commun. 4(5): 724-738, 2020.

Huang YH, Khor SS, Zheng X, Chen H-Y, Chang YH, Chu HW, Wu PE, Lin TJ, Liao SF, Shen CY, Tokunaga K, Lee M-H, and HLA & KIR Imputation Network (HKimp.net). A high-resolution HLA imputation system for the Taiwanese population: a study of the Taiwan Biobank. Pharmacogenomics J. Feb 2020, Epub ahead of print.

Okamoto D, Kawai Y, Kakuta Y, Naito T, Torisu T, Hirano A, Umeno J, Fuyuno Y, Li D, Nakano T, Izumiyama Y, Ichikawa R, Hiramoto K, Moroi R, Kuroha M, Kanazawa Y, Shiga H, Tokunaga K. Nakamura M, Esaki M, Matsumoto T, McGovern DPB, Nagasaki M, Kinouchi Y, and Masamune A. Genetic analysis of ulcerative colitis in Japanese individuals using population-specific SNP array. Inflamm. Bowel Dis. Feb 2020, Epub ahead of print.

Kim J, Jeon S, Choi JP, Blazyte A, Jeon Y, Kim JI, Ohashi J, Tokunaga K, Sugano S, Fucharoen S, Al-Mulla F, and Bhak J. The origin and composition of Korean ethnicity analyzed by ancient and present-day genome sequences. Genome Biol. Evol. 12(5): 553-565, 2020.

Hashimoto S, Nakajima F, Imanishi T, Kawai Y, Kato K, Kimura T, Miyata S, Takanashi M, Nishio M, Tokunaga K, and Satake M. Implications of HLA diversity among regions for bone marrow donor searches in Japan. HLA. 96(1):24-42, 2020.