Hamilton F, Schurz H, Yates TA, Gilchrist JJ, Môller M, Naranbhai V, Ghazal P, Timpson NJ; Genes & Health Research Team; International Tuberculosis Host Genetics Consortium; Parks T, Pollara G. Altered IL-6 signalling and risk of tuberculosis: a multi-ancestry mendelian randomisation study. Lancet Microbe. 2024 Nov. Epub ahead of print.

Worakitchanon W, Yanai H, Piboonsiri P, Miyahara R, Nedsuwan S, Imsanguan W, Chaiyasirinroje B, Sawaengdee W, Wattanapokayakit S, Wichukchinda N, Omae Y, Palittapongarnpim P, Tokunaga K, Mahasirimongkol S, Fujimoto A. Comprehensive analysis of Mycobacterium tuberculosis genomes reveals genetic variations in bacterial virulence. Cell Host Microbe. 2024. 32(11):1972-1987.

Abe-Hatano C, Inoue K, Takeshita E, Kawai Y, Tokunaga K, Goto YI. WDR45 variants as a major cause for a clinically variable intellectual disability syndrome from early infancy in females. J Med Genet. 2024 Oct. Epub ahead of print.

Imai Y, Kusano K, Aiba T, Ako J, Asano Y, Harada-Shiba M, Kataoka M, Kosho T, Kubo T, Matsumura T, Minamino T, Minatoya K, Morita H, Nishigaki M, Nomura S, Ogino H, Ohno S, Takamura M, Tanaka T, Tsujita K, Uchida T, Yamagishi H, Ebana Y, Fujita K, Ida K, Inoue S, Ito K, Kuramoto Y, Maeda J, Matsunaga K, Neki R, Sugiura K, Tada H, Tsuji A, Yamada T, Yamaguchi T, Yamamoto E, Kimura A, Kuwahara K, Maemura K, Minamino T, Morisaki H, Tokunaga K; Japanese Circulation Society, Japanese College of Cardiology, Japanese Society of Pediatric Cardiology and Cardiac Surgery Joint Working Group. JCS/JCC/JSPCCS 2024 Guideline on Genetic Testing and Counseling in Cardiovascular Disease. Circ J. 2024 Sep. Epub ahead of print.

Imai T, Mitsuhashi S, Isahaya K, Shibata S, Kawai Y, Omae Y, Tokunaga K; NCBN Controls WGS Consortium; Yamano Y. Wilson disease (novel ATP7B variants) with concomitant FLNC-related cardiomyopathy. Hum Genome Var. 2024. 11(1): 34.

Tomofuji Y, Edahiro R, Sonehara K, Shirai Y, Kock KH, Wang QS, Namba S, Moody J, Ando Y, Suzuki A, Yata T, Ogawa K, Naito T, Namkoong H, Xuan Lin QX, Buyamin EV, Tan LM, Sonthalia R, Han KY, Tanaka H, Lee H; Asian Immune Diversity Atlas (AIDA) Network; Japan COVID-19 Task Force; Biobank Japan Project; Okuno T, Liu B, Matsuda K, Fukunaga K, Mochizuki H, Park WY, Yamamoto K, Hon CC, Shin JW, Prabhakar S, Kumanogoh A, Okada Y. Quantification of escape from X chromosome inactivation with single-cell omics data reveals heterogeneity across cell types and tissues. Cell Genom. 2024. 4(8): 100625.

Orimo K, Mitsui J, Matsukawa T, Tanaka M, Nomoto J, Ishiura H, Omae Y, Kawai Y, Tokunaga K; NCBN Controls WGS Consortium; Toda T, Tsuji S. Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome. J Hum Genet. 2024 69, 613-621

Naito T, Osaka R, Kakuta Y, Kawai Y, Khor SS, Umeno J, Tokunaga K; NCBN Controls WGS Consortium; Nagai H, Shimoyama Y, Moroi R, Shiga H, Nagasaki M, Kinouchi Y, Masamune A. Genetically Predicted Higher Levels of Caffeic Acid Are Protective Against Ulcerative Colitis: A Comprehensive Metabolome Analysis. Inflamm Bowel Dis. 2024. 29: izae143.

Pollock NR, Farias TDJ, Kichula KM, Sauter J, Scholz S, Nii-Trebi NI, Khor SS, Tokunaga K, Voorter CE, Groeneweg M, Augusto DG, Arrieta-Bolaños E, Mayor NP, Edinur HA, ElGhazali G, Issler HC, Petzl-Erler ML, Oksenberg JR, Marin WM, Hollenbach JA, Gendzekhadze K, Cita R, Stelet V, Rajalingam R, Koskela S, Clancy J, Chatzistamatiou T, Houwaart T, Kulski J, Guethlein LA, Parham P, Schmidt AH, Dilthey A, Norman PJ. The 18th International HLA & Immunogenetics workshop project report: Creating fully representative MHC reference haplotypes. HLA. 2024. 103(6): e15568.

Hirayasu K, Khor SS, Kawai Y, Shimada M, Omae Y, Hasegawa G, Hashikawa Y, Tanimoto H, Ohashi J, Hosomichi K, Tajima A, Nakamura H, Nakamura M, Tokunaga K, Hanayama R, Nagasaki M. Identification of the hybrid gene LILRB5-3 by long-read sequencing and implication of its novel signaling function. Front Immunol. 2024. 15: e1398935.

Takao N, Yagishita N, Araya N, Aratani S, Yamauchi J, Takahashi K, Kunitomo Y, Sato T, Nakamori M, Kawai Y, Omae Y, Tokunaga K, Matsuda F, Mitsuhashi S, Yamano Y. Large-Scale Whole-Genome Analysis of HTLV-1-Associated Myelopathy Identified Hereditary Spastic Paraplegias. Neurol Genet. 2024. 10(1): e200108.

Hitomi Y, Ueno K, Aiba Y, Nishida N, Kono M, Sugihara M, Kawai Y, Kawashima M, Khor SS, Sugi K, Kouno H, Kohno H, Naganuma A, Iwamoto S, Katsushima S, Furuta K, Nikami T, Mannami T, Yamashita T, Ario K, Komatsu T, Makita F, Shimada M, Hirashima N, Yokohama S, Nishimura H, Sugimoto R, Komura T, Ota H, Kojima M, Nakamuta M, Fujimori N, Yoshizawa K, Mano Y, Takahashi H, Hirooka K, Tsuruta S, Sato T, Yamasaki K, Kugiyama Y, Motoyoshi Y, Suehiro T, Saeki A, Matsumoto K, Nagaoka S, Abiru S, Yatsuhashi H, Ito M, Kawata K, Takaki A, Arai K, Arinaga- Hino T, Abe M, Harada M, Taniai M, Zeniya M, Ohira H, Shimoda S, Komori A, Tanaka A, Ishigaki K, Nagasaki M, Tokunaga K, Nakamura M. A genome-wide association study identified PTPN2 as a population-specific susceptibility gene locus for primary biliary cholangitis. Hepatology. 2024. 80(4): 776-790.

Kaburagi K, Hagiwara Y, Tachikawa K, Miyake N, Akiyama H, Kawai Y, Omae Y, Tokunaga K, Yamano Y, Shimizu T, Mitsuhashi S. A novel NODAL variant in a young embolic stroke patient with visceral heterotaxy. BMC Neurol. 2024. 24(1): 119.

Noiri E, Katagiri D, Asai Y, Sugaya T, Tokunaga K. Urine oxygenation predicts COVID-19 risk. Clin Exp Nephrol. 2024. 28(7): 608-616.

Nakamura W, Hirata M, Oda S, Chiba K, Okada A, Mateos RN, Sugawa M, Iida N, Ushiama M, Tanabe N, Sakamoto H, Sekine S, Hirasawa A, Kawai Y, Tokunaga K; NCBN Controls WGS Consortium; Tsujimoto SI, Shiba N, Ito S, Yoshida T, Shiraishi Y. Assessing the efficacy of target adaptive sampling long-read sequencing through hereditary cancer patient genomes. NPJ Genom Med. 2024. 9(1): 11.

Nakamura W, Hirata M, Oda S, Chiba K, Okada A, Mateos RN, Sugawa M, Iida N, Ushiama M, Tanabe N, Sakamoto H, Sekine S, Hirasawa A, Kawai Y, Tokunaga K; NCBN Controls WGS Consortium; Tsujimoto SI, Shiba N, Ito S, Yoshida T, Shiraishi Y. Assessing the efficacy of target adaptive sampling long-read sequencing through hereditary cancer patient genomes. NPJ Genom Med. 2024. 9(1): 11.

Shimada M, Omae Y, Kakita A, Gabdulkhaev R, Hitomi Y, Miyagawa T, Honda M, Fujimoto A, Tokunaga K. Identification of region-specific gene isoforms in the human brain using long-read transcriptome sequencing. Sci Adv. 2024. 10(4): eadj5279.

Schurz H, Naranbhai V, Yates TA, Gilchrist JJ, Parks T, Dodd PJ, Môller M, Hoal EG, Morris AP, Hill AVS; International Tuberculosis Host Genetics Consortium. Multi-ancestry meta-analysis of host genetic susceptibility to tuberculosis identifies shared genetic architecture. Elife. 2024. 13: e84394.