ゲノム情報に基づくプレシジョン・メディシンと
次世代ゲノム解析基盤の構築

原著論文

-- 2025 --

Higasa K, Kamatani Y, Kawaguchi T, Kawaguchi S, Sakaue S, Yang TY, Okada Y, Momozawa Y, Yamaguchi I, Nelson D, Gravel S, Murakami Y, Yamada R, Matsuo K, Yamano Y, Kim C, Seo JS, Kubo M, Matsuda F. Whole-genome sequencing of 3135 individuals representing the genetic diversity of the Japanese population. J Hum Genet in press.

Nakamoto T, Yoshida T, Ohe C, Yasukochi Y, Atsumi N, Sano T, Higasa K, Uchida K, Tsuta K, Kinoshita H. HMGA2 expression links tumor evolution and microenvironment dynamics to systemic therapy response in clear cell renal cell carcinoma. J Immunother Cancer 13(11):e012568.

Boku S, Yasuda T, Ikoma T, Matsumori E, Yoshiuchi S, Matsuo Y, Higasa K, Kurata T. Anamorelin in Cancer Cachexia: Gut Microbiota Effects and CONUT Score as a Predictor of Response. In Vivo 39(6):3626-3635

Sakamoto H, Murakami A, Kono Y, Nakamura M, Higasa K, Yakushiji Y. Elderly-onset iatrogenic cerebral amyloid angiopathy presenting with lobar and deep haemorrhages. BMJ Case Rep 18(10):e267435

Takaori A, Ikeura T, Hashimoto D, Maruo M, Ikeda M, Ito T, Nakamaru K, Masuda M, Nakayama S, Miyazaki H, Matsumura K, Yamaki S, Yasuda T, Kanai M, Akagawa S, Tsuji S, Higasa K, Satoi S, Naganuma M. Fecal Bifidobacterium serves as a predictor of postoperative recurrence after neoadjuvant chemotherapy in pancreatic cancer. Gastro Hep Adv 5(1):100779

Sonehara K, Watanabe R, Matsumura Y, Mitsui Y, Ogawa Y, Odomari K, Sakaue S, Namba S, Komuro M, Edamoto M, Watanabe J, Hirota T, Arase N, Nakamura Y, Nakajima K, Okamoto T, Nishikawa R, Yamamoto K, Suzuki K, Kishikawa T, Edahiro R, Shirai Y, Naito T, Sasa N, Ishitsuka Y, Furuta J, Kunimoto K, Kajihara I, Fukushima S, Miyachi H, Matsue H, Kamata M, Momose M, Miyagawa I, Tanaka H, Ueno M, Bito T, Nagai H, Ikeda T, Horikawa T, Adachi A, Matsubara T, Nishida E; Biobank Japan Project; Matsuda K, Shojima N, Nakagawa I, Asano Y, Sato S, Imafuku S, Tada Y, Nishigori C, Jinnin M, Ihn H, Asahina A, Saeki H, Yamauchi T, Kadowaki T, Kawamura T, Shimada S, Katayama I, Higasa K, Noguchi E, Sano S, Tanaka Y, Matsuda F, Kumanogoh A, Tamari M, Satoh T, Fujimoto M, Morita A, Okada Y. Whole-genome sequencing reveals rare and structural variants contributing to psoriasis and identifies CERCAM as a risk gene. Cell Genom 5(10):100978

Sumiyoshi M, Kotani Y, Shimokawa C, Khueangchiangkhwang S, Maekawa Y, Matsuo Y, Yasukochi Y, Higasa K, Kanaho Y, Watanabe T, Matsuda S. The Arf pathway is required for resolving ER stress during T cell activation. Int Immunol 37(10):611-624

Kunieda S, Fukui M, Kuro A, Mitsui T, Li H, Sun Z, Ueda T, Taketani S, Higasa K, Kakudo N. Molecular Insights into the Superiority of Platelet Lysate over FBS for hASC Expansion and Wound Healing. Cells 25;14(15):1154

Huong QTT, Truc LTN, Ueda H, Fukui K, Higasa K, Sato Y, Takeda S, Hattori M, Tsukaguchi H. Nerve Enlargement in Patients with INF2 Variants Causing Peripheral Neuropathy and Focal Segmental Glomerulosclerosis. Biomedicines 8;13(1):127

Sasa N, Kojima S, Koide R, Hasegawa T, Namkoong H, Hirota T, Watanabe R, Nakamura Y, Oguro-Igashira E, Ogawa K, Yata T, Sonehara K, Yamamoto K, Kishikawa T, Sakaue S, Edahiro R, Shirai Y, Maeda Y, Nii T, Chubachi S, Tanaka H, Yabukami H, Suzuki A, Nakajima K, Arase N, Okamoto T, Nishikawa R, Namba S, Naito T, Miyagawa I, Tanaka H, Ueno M, Ishitsuka Y, Furuta J, Kunimoto K, Kajihara I, Fukushima S, Miyachi H, Matsue H, Kamata M, Momose M, Bito T, Nagai H, Ikeda T, Horikawa T, Adachi A, Matsubara T, Ikumi K, Nishida E, Nakagawa I, Yagita-Sakamaki M, Yoshimura M, Ohshima S, Kinoshita M, Ito S, Arai T, Hirose M, Tanino Y, Nikaido T, Ichiwata T, Ohkouchi S, Hirano T, Takada T, Tazawa R, Morimoto K, Takaki M, Konno S, Suzuki M, Tomii K, Nakagawa A, Handa T, Tanizawa K, Ishii H, Ishida M, Kato T, Takeda N, Yokomura K, Matsui T, Uchida A, Inoue H, Imaizumi K, Goto Y, Kida H, Fujisawa T, Suda T, Yamada T, Satake Y, Ibata H, Saigusa M, Shirai T, Hizawa N, Nakata K; Japan COVID-19 Task Force; Imafuku S, Tada Y, Asano Y, Sato S, Nishigori C, Jinnin M, Ihn H, Asahina A, Saeki H, Kawamura T, Shimada S, Katayama I, Poisner HM, Mack TM, Bick AG, Higasa K, Okuno T, Mochizuki H, Ishii M, Koike R, Kimura A, Noguchi E, Sano S, Inohara H, Fujimoto M, Inoue Y, Yamaguchi E, Ogawa S, Kanai T, Morita A, Matsuda F, Tamari M, Kumanogoh A, Tanaka Y, Ohmura K, Fukunaga K, Imoto S, Miyano S, Parrish F N, Okada Y Blood DNA virome associates with autoimmune diseases and COVID-19. Nat Genet 57(1):65-79

Pezzotti G, Yasukochi Y, Ohgitani E, Nakashio M, Shin-Ya M, Adachi T, Yamamoto T, Ikegami S, Zhu W, Higasa K, Okuma K, Mazda O. Raman signatures of type A and B influenza viruses: molecular origin of the "catch and kill" inactivation mechanism mediated by micrometric silicon nitride powder. RSC Chem Biol 22;6(2):182-208

-- 2024 --

Kondo H, Tsukahara-Kawamura T, Matsushita I, Nagata T, Hayashi T, Nishina S, Higasa K, Uchio E, Kondo M, Sakamoto T, Kusaka S. Familial exudative vitreoretinopathy with and without pathogenic variants of Norrin/β-catenin signaling genes. Ophthalmol Sci 100514

Kawaguchi S, Higasa K, Yamada R, Matsuda F. Comprehensive HLA Typing from a Current Allele Database Using Next-Generation Sequencing Data. Methods and Protocols: HLA Typing 67-75

Hayashi S, Seki-Omura R, Yamada S, Kamata T, Sato Y, Oe S, Koike T, Nakano Y, Iwashita H, Hirahara Y, Tanaka S, Sekijima T, Ito T, Yasukochi Y, Higasa K, Kitada M. OLIG2 translocates to chromosomes during mitosis via a temperature downshift: A novel neural cold response of mitotic bookmarking. Gene 891:147829

-- 2023 --

Teramoto Y, Akagawa S, Hori S, Tsuji S, Higasa K, Kaneko K. Dysbiosis of the gut microbiota as a susceptibility factor for Kawasaki disease. Front Immunol 14:1268453

Pezzotti G, Ohgitani E, Fujita Y, Imamura H, Pappone F, Grillo A, Nakashio M, Shin-ya M, Adachi T, Yamamoto T, Kanamura N, Marin E, Zhu W, Inaba T, Tanino Y, Nukui Y, Higasa K, Yasukochi Y, Okuma K, Mazda O. Raman fingerprints of SARS-CoV-2 Omicron subvariants: molecular roots of virological characteristics and evolutionary directions. ACS Infect Dis 9(11):2226-2251

Pezzotti G, Ohgitani E, Imamura H, Ikegami S, Shin-Ya M, Adachi T, Adachi K, Yamamoto T, Kanamura N, Marin E, Zhu W, Higasa K, Yasukochi Y, Okuma K, Mazda O. Raman Multi-Omic Snapshot and Statistical Validation of Structural Differences between Herpes Simplex Type I and Epstein–Barr Viruses. Int J Mol Sci 24(21):15567

Ogata H, Higasa K, Kageyama Y, Tahara H, Shimamoto A, Takekita Y, Koshikawa Y, Nonen S, Kato T, Kinoshita T, Kato M. Relationship between circulating mitochondrial DNA and microRNA in patients with major depression. J Affect Disord 15(339):538-546

Funatsuki T, Ogata H, Tahara H, Shimamoto A, Takekita Y, Koshikawa Y, Nonen S, Higasa K, Kinoshita T, Kato M. Changes in Multiple microRNA Levels with Antidepressant Treatment Are Associated with Remission and Interact with Key Pathways: A Comprehensive microRNA Analysis. Int J Mol Sci 30;24(15):12199

Ueda H, Tran QTH, Tran LNT, Higasa K, Ikeda Y, Kondo N, Hashiyada M, Sato C, Sato Y, Ashida A, Nishio S, Iwata Y, Iida H, Matsuoka D, Hidaka Y, Fukui K, Itami S, Kawashita N, Sugimoto K, Nozu K, Hattori M, Tsukaguchi H. Characterization of cytoskeletal and structural effects of INF2 variants causing glomerulopathy and neuropathy. Sci Rep 25;13(1):12003

Yasukochi Y, Sera T, Kohno T, Nakashima Y, Uesugi M, Kudo S. Cold-induced vasodilation response in a Japanese cohort: insights from cold-water immersion and genome-wide association studies. J Physiol Anthropol 8;42(1):2

Ueda Y, Higasa K, Kamioka Y, Kondo N, Horitani S, Ikeda Y, Bergmeier W, Fukui Y, Kinashi T. Rap1 organizes lymphocyte front-back polarity via RhoA signaling and talin1. iScience 26(8):107292

Hayashi S, Oe S, Koike T, Seki-Omura R, Nakano Y, Hirahara Y, Tanaka S, Ito T, Yasukochi Y, Higasa K, Kitada M. OLIG2 is an in vivo bookmarking transcription factor in the developing neural tube in mouse. J Neurochem 165(3):303-317

Kobayashi M, Wakaguri H, Shimizu M, Higasa K, Matsuda F, Honjo T. Ago2 and a miRNA reduce Topoisomerase 1 for enhancing DNA cleavage in antibody diversification by activation-induced cytidine deaminase. Proc Natl Acad Sci USA 120(18):e2216918120

Noda Y, Sawada S, Sakagami T, Kojima Y, Higasa K, Tsuta K. Adenoid Ameloblastoma with BRAF p.V600E Mutation Revealing Ameloblastomatous Origin: A First Case Report. Head Neck Pathol 17:788-792

Noda Y, Yamaka R, Atsumi N, Higasa K, Tsuta K. Areas of Crush Nuclear Streaming Should Be Included as Tumor Content in the Era of Molecular Diagnostics. Cancers 15(6):1910

Ohe C, Yoshida T, Amin MB, Uno R, Atsumi N, Yasukochi Y, Ikeda J, Nakamoto T, Noda Y, Kinoshita H, Tsuta K, Higasa K. Deep learning-based predictions of clear and eosinophilic phenotypes in clear cell renal cell carcinoma. Mod Pathol 131:68-78

Miyawaki N, Toyota T, K Higasa K, T Nakamura, Y Furukawa. Successful pregnancy and delivery in a young-onset hypertrophic cardiomyopathy patient with a novel doublet-base substitution in the MYH7 gene. J Cardiol Cases 27(1):8-11

-- 2022 --

Yoshioka W, Iida A, Sonehara K, Yamamoto K, Oya Y, Mori-Yoshimura M, Kurashige T, Okubo M, Ogawa M, Matsuda F, Higasa K, Hayashi S, Nakamura H, Sekijima M, Okada Y, Noguchi S, Nishino I. Multidimensional analyses of the pathomechanism caused by the non-catalytic GNE variant, c.620A>T, in patients with GNE myopathy. Sci Rep 12(1):21806

Fukui M, Matsuoka Y, Taketani S, Higasa K, Hihara M, Kuro A, Kakudo N. Accelerated Angiogenesis of Human Umbilical Vein Endothelial Cells Under Negative Pressure Was Associated With the Regulation of Gene Expression Involved in the Proliferation and Migration. Ann Plast Surg 89(6):e51-e59

Ohe C, Yoshida T, Amin M, Atsumi N, Ikeda J, Saiga K, Noda Y, Yasukochi Y, Ohashi R, Ohsugi H, Higasa K, Kinoshita H, Tsuta K. Development and validation of a vascularity-based architectural classification for clear cell renal cell carcinoma: correlation with conventional pathological prognostic factors, gene expression patterns, and clinical outcomes. Mod Pathol 35(6):816-824

Kato M, Ogata H, Tahara H, Shimamoto A, Takekita Y, Koshikawa Y, Nishida K, Nonen S, Higasa K, Kinoshita T. Multiple Pre-Treatment miRNAs Levels in Untreated Major Depressive Disorder Patients Predict Early Response to Antidepressants and Interact with Key Pathways. Int J Mol Sci 23(7):3873

Saiga K, Ohe C, Yoshida T, Ohsugi H, Ikeda J, Atsumi N, Noda Y, Yasukochi Y, Higasa K, Taniguchi H, Kinoshita H, Tsuta K. PBRM1 Immunohistochemical Expression Profile Correlates with Histomorphological Features and Endothelial Expression of Tumor Vasculature for Clear Cell Renal Cell Carcinoma. Cancers (Basel) 20;14(4):1062

Ohe C, Yoshida T, Ikeda J, Tsuzuki T, Ohashi R, Ohsugi H, Atsumi N, Yamaka R, Saito R, Yasukochi Y, Higasa K, Kinoshita H, Tsuta K. Histologic-Based Tumor-Associated Immune Cells Status in Clear Cell Renal Cell Carcinoma Correlates with Gene Signatures Related to Cancer Immunity and Clinical Outcomes. Biomedicines 29;10(2):323

-- 2021 --

Kitamura S, Yamaguchi K, Murakami R, Furutake Y, Higasa K, Abiko K, Hamanishi J, Baba T, Matsumura N, Mandai M. PDK2 leads to cisplatin resistance through suppression of mitochondrial function in ovarian clear cell carcinoma. Cancer Sci 112, 4627-4640

Yoshida T, Ohe C, Ikeda J, Atsumi N, Ohsugi H, Sugi M, Higasa K, Saito R, Tsuta K, Matsuda T, Kinoshita H. Eosinophilic features in clear cell renal cell carcinoma correlate with outcomes of immune checkpoint and angiogenesis blockade. J Immunother Cancer 9(9), e002922

Yasukochi Y, Shin S, Wakabayashi H, Maeda T. Upregulation of cathepsin L gene under mild cold conditions in young Japanese male adults. J Physiol Anthropol 40(1), 16

Sato Y, Tsukaguchi H, Higasa K, Kawata N, Inui K, Linh TNT, Quynh TTH, Yoshihiko I, Koiwa F, Yoshimura A. Positive renal familial history in IgA nephropathy is associated with worse renal outcomes: a single-center longitudinal study. BMC Nephrol 22(1), 230

Mizuno F, Gojobori J, Kumagai M, Baba H, Taniguchi Y, Kondo O, Matsushita M, Matsushita T, Matsuda F, Higasa K, Hayashi M, Wang L, Kurosaki K, Ueda S. Population dynamics in the Japanese Archipelago since the Pleistocene revealed by the complete mitochondrial genome sequences. Sci Rep 11(1), 12018

Mizobuchi K, Hayashi T, Oishi N, Kubota D, Kameya S, Higasa K, Futami T, Kondo H, Hosono K, Kurata K, Hotta Y, Yoshitake K, Iwata T, Matsuura T, Nakano T. Genotype-Phenotype Correlations in RP1-Associated Retinal Dystrophies: A Multi-Center Cohort Study in JAPAN. J Clin Med 10(11), 2265

Kanda S, Fujii Y, Hori S, Ohmachi T, Yoshimura K, Higasa K, Kaneko K. Combined Single Nucleotide Variants of ORAI1 and BLK in a Child with Refractory Kawasaki Disease. Children 8(6), 433

Okada D, Nakamura N, Setoh K, Kawaguchi T, Higasa K, Tabara Y, Matsuda F, Yamada R. Genome-wide association study of individual differences of human lymphocyte profiles using large-scale cytometry data. J Hum Genet 66(6):557-567

Matsuo T, Isosaka T, Hayashi Y, Tang L, Doi A, Yasuda A, Hayashi M, Lee CY, Cao L, Kutsuna N, Matsunaga S, Matsuda T, Yao I, Setou M, Kanagawa D, Higasa K, Ikawa M, Liu Q, Kobayakawa R, Kobayakawa K. Thiazoline-related innate fear stimuli orchestrate hypothermia and anti-hypoxia via sensory TRPA1 activation. Nat Commun 6;12(1):2074

-- 2020 --

Oka Y, Hamada M, Nakazawa Y, Muramatsu H, Okuno Y, Higasa K, Shimada M, Takeshima H, Hanada K, Hirano T, Kawakita T, Sakaguchi H, Ichimura T, Ozono S, Yuge K, Watanabe Y, Kotani Y, Yamane M, Kasugai Y, Tanaka M, Suganami T, Nakada S, Mitsutake N, Hara Y, Kato K, Mizuno S, Miyake N, Kawai Y, Tokunaga K, Nagasaki M, Kito S, Isoyama K, Onodera M, Kaneko H, Matsumoto N, Matsuda F, Matsuo K, Takahashi Y, Mashimo T, Kojima S, Ogi T. Digenic mutations in ALDH2 and ADH5 impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome. Sci Adv 6(51):eabd7197

Numa S, Oishi A, Higasa K, Oishi M, Miyata M, Hasegawa T, Ikeda HO, Otsuka Y, Matsuda F, Tsujikawa A. EYS is a major gene involved in retinitis pigmentosa in Japan: genetic landscapes revealed by stepwise genetic screening. Sci Rep 27;10(1):20770.

Koyama S, Ito K, Terao C, Akiyama M, Horikoshi M, Momozawa Y, Matsunaga H, Ieki H, Ozaki K, Onouchi Y, Takahashi A, Nomura S, Morita H, Akazawa H, Kim C, Seo JS, Higasa K, Iwasaki M, Yamaji T, Sawada N, Tsugane S, Koyama T, Ikezaki H, Takashima N, Tanaka K, Arisawa K, Kuriki K, Naito M, Wakai K, Suna S, Sakata Y, Sato H, Hori M, Sakata Y, Matsuda K, Murakami Y, Aburatani H, Kubo M, Matsuda F, Kamatani Y, Komuro I. Population-specific and trans-ancestry genome-wide analyses identify distinct and shared genetic risk loci for coronary artery disease. Nat Genet 52(11):1169-1177.

Nakamura R, Misawa K, Tohnai G, Nakatochi M, Furuhashi S, Atsuta N, Hayashi N, Yokoi D, Watanabe H, Watanabe H, Katsuno M, Izumi Y, Kanai K, Hattori N, Morita M, Taniguchi A, Kano O, Oda M, Shibuya K, Kuwabara S, Suzuki N, Aoki M, Ohta Y, Yamashita T, Abe K, Hashimoto R, Aiba I, Okamoto K, Mizoguchi K, Hasegawa K, Okada Y, Ishihara T, Onodera O, Nakashima K, Kaji R, Kamatani Y, Ikegawa S, Momozawa Y, Kubo M, Ishida N, Minegishi N, Nagasaki M, Sobue G. A multi-ethnic meta-analysis identifies novel genes, including ACSL5, associated with amyotrophic lateral sclerosis. Commun Biol 23;3(1):526.

Gervais O, Ueno K, Kawai Y, Hitomi Y, Misawa K, Teraguchi S, Wang YY, Tokunaga K, Nagasaki M. Genomic Heritabilities and Correlations of 17 Traits Related to Obesity and Associated Conditions in the Japanese Population. G3 (Bethesda) 7;10(7):2221-2228.

Misawa K, Hasegawa T, Mishima E, Jutabha P, Ouchi M, Kojima K, Kawai Y, Matsuo M, Anzai N, Nagasaki M. Contribution of Rare Variants of the SLC22A12 Gene to the Missing Heritability of Serum Urate Levels. Genetics 214(4);1079-1090.

Anderson-Trocmé L, Farouni R, Bourgey M, Kamatani Y, Higasa K, Seo JS, Kim C, Matsuda F, Gravel S. Legacy Data Confounds Genomics Studies. Mol Biol Evol 37(1):2-10.

Nagata M, Setoh K, Takahashi M, Higasa K, Kawaguchi T, Kawasaki H, Wada T, Watanabe A, Sawai H, Tabara Y, Yamada T, Matsuda F, Kosugi S. Association of ALPL variants with serum alkaline phosphatase and bone traits in the general Japanese population: The Nagahama Study. J Hum Genet 65(3):337-343.

-- 2019 --

Misawa K, Watanabe H, Yokoseki A, Wakasugi M, Onodera O, Narita I, Momotsu T, Sato K, Endo N. Is the population of Sado Island genetically close to the population of western Japan? Hum Genome Var 4;6:26.

Terao C, Ota M, Iwasaki T, Shiokawa M, Kawaguchi S, Kuriyama K, Kawaguchi T, Kodama Y, Yamaguchi I, Uchida K, Higasa K, Yamamoto M, Kubota K, Yazumi S, Hirano K, Masaki Y, Maguchi H, Origuchi T, Matsui S, Nakazawa T, Shiomi H, Kamisawa T, Hasebe O, Iwasaki E, Inui K, Tanaka Y, Ohshima K, Akamizu T, Nakamura S, Nakamura S, Saeki T, Umehara H, Shimosegawa T, Mizuno N, Kawano M, Azumi A, Takahashi H, Mimori T, Kamatani Y, Okazaki K, Chiba T, Kawa S, Matsuda F. IgG4-related disease in the Japanese population: a genome-wide association study. The Lancet Rheumatology 1 (1), e14-e22.

Nagasaki M, Kuroki Y, Shibata TF, Katsuoka F, Mimori T, Kawai Y, Minegishi N, Hozawa A, Kuriyama S, Suzuki Y, Kawame H, Nagami F, Takai-Igarashi T, Ogishima S, Kojima K, Misawa K, Tanabe O, Fuse N, Tanaka H, Yaegashi N, Kinoshita K, Kure S, Yasuda J, Yamamoto M. Construction of JRG (Japanese reference genome) with single-molecule real-time sequencing. Hum Genome Var 7;6:27.

Imaizumi A, Adachi Y, Kawaguchi T, Higasa K, Tabara Y, Sonomura K, Sato TA, Takahashi M, Mizukoshi T, Yoshida HO, Kageyama N, Okamoto C, Takasu M, Mori M, Noguchi Y, Shimba N, Miyano H, Yamada R, Matsuda F. Genetic basis for plasma amino acid concentrations based on absolute quantification: a genome-wide association study in the Japanese population. Eur J Hum Genet 27(4):621-630.

Mimori T, Yasuda J, Kuroki Y, Shibata TF, Katsuoka F, Saito S, Nariai N, Ono A, Nakai-Inagaki N, Misawa K, Tateno K, Kawai Y, Fuse N, Hozawa A, Kuriyama S, Sugawara J, Minegishi N, Suzuki K, Kinoshita K, Nagasaki M, Yamamoto M. Construction of full-length Japanese reference panel of class I HLA genes with single-molecule, real-time sequencing. Pharmacogenomics J 19(2):136-146.

-- 2018 --

Yamaura T, Miyoshi H, Maekawa H, Morimoto T, Yamamoto T, Kakizaki F, Higasa K, Kawada K, Matsuda F, Sakai Y, Taketo MM. Accurate diagnosis of mismatch repair deficiency in colorectal cancer using high-quality DNA samples from cultured stem cells. Oncotarget 9(101):37534-37548.

Yasuda J, Katsuoka F, Danjoh I, Kawai Y, Kojima K, Nagasaki M, Saito S, Yamaguchi-Kabata Y, Tadaka S, Motoike IN, Kumada K, Sakurai-Yageta M, Tanabe O, Fuse N, Tamiya G, Higasa K, Matsuda F, Yasuda N, Iwasaki M, Sasaki M, Shimizu A, Kinoshita K, Yamamoto M. Regional genetic differences among Japanese populations and performance of genotype imputation using whole-genome reference panel of the Tohoku Medical Megabank Project. BMC Genomics 19(1):551.

Hirata S, Kojima K, Misawa K, Gervais O, Kawai Y, Nagasaki M Population-scale whole genome sequencing identifies 271 highly polymorphic short tandem repeats from Japanese population. Heliyon 22;4(5):e00625.

Sato Y, Tsukaguchi H, Morita H, Higasa K, Tran MTN, Hamada M, Usui T, Morito N, Horita S, Hayashi T, Takagi J, Yamaguchi I, Nguyen HT, Harada M, Inui K, Maruta Y, Inoue Y, Koiwa F, Sato H, Matsuda F, Ayabe S, Mizuno S, Sugiyama F, Takahashi S, Yoshimura A. MAFB Mutation Causes Focal Segmental Glomerulosclerosis with Duane Retraction Syndrome. Kidney International 94(2):396-407.

Ishiura H, Doi K, Mitsui J, Yoshimura J, Matsukawa MK, Fujiyama A, Toyoshima Y, Kakita A, Takahashi H, Suzuki Y, Sugano S, Qu W, Ichikawa K, Yurino H, Higasa K, Shibata S, Mitsue A, Tanaka M, Ichikawa Y, Takahashi Y, Date H, Matsukawa T, Kanda J, Nakamoto FK, Higashihara M, Abe K, Koike R, Sasagawa M, Kuroha Y, Hasegawa N, Kanesawa N, Kondo T, Hitomi T, Tada M, Takano H, Saito Y, Sanpei K, Onodera O, Nishizawa M, Nakamura M, Yasuda T, Sakiyama Y, Otsuka M, Ueki A, Kaida KI, Shimizu J, Hanajima R, Hayashi T, Terao Y, Inomata-Terada S, Hamada M, Shirota Y, Kubota A, Ugawa Y, Koh K, Takiyama Y, Ohsawa-Yoshida N, Ishiura S, Yamasaki R, Tamaoka A, Akiyama H, Otsuki T, Sano A, Ikeda A, Goto J, Morishita S, Tsuji S Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy. Nat Genet 50: 581-590.

Kondo H, Uchio E, Kusaka S, Higasa K. Risk allele of FZD4 gene for familial exudative vitreoretinopathy. Ophthalmic Genet 39(3):405-406.

-- 2017 --

Murakami R, Matsumura N, Brown JB, Higasa K, Tsutsumi T, Kamada M, Abou-Taleb H, Hosoe Y, Kitamura S, Yamaguchi K, Abiko K, Hamanishi J, Baba T, Koshiyama M, Okuno Y, Yamada R, Matsuda F, Konishi I, Mandai M. Exome Sequencing Landscape Analysis in Ovarian Clear Cell Carcinoma Shed Light on Key Chromosomal Regions and Mutation Gene Networks. Am J Pathol 187(10):2246-2258.

Kawaguchi S, Higasa K, Shimizu M, Yamada R, and Matsuda F. HLA-HD: An accurate HLA typing algorithm for next-generation sequencing data. Hum Mut 38(7):788-797.

Higasa K, Ogawa A, Terao C, Shimizu M, Kosugi S, Yamada R, Date H, Matsubara H, and Matsuda F. A burden of rare variants in BMPR2 and KCNK3 contributes to a risk of familial pulmonary arterial hypertension. BMC Pulm Med 17(1):57.

-- 2016 --

Hasegawa T, Kojima K, Kawai Y, Misawa K, Mimori T, Nagasaki M. AP-SKAT: highly-efficient genome-wide rare variant association test. BMC Genomics. 21;17(1):745, 2016

Okada Y, Suzuki A, Ikari K, Terao C, Kochi Y, Ohmura K, Higasa K, Akiyama M, Ashikawa K, Kanai M, Hirata J, Suita N, Teo Y, Xu H, Bae S, Takahashi A, Momozawa Y, Matsuda K, Momohara S, Taniguchi A, Yamada R, Mimori T, Kubo M, Brown A. M, Raychaudhuri S, Matsuda F, Yamanaka H, Kamatani Y, and Yamamoto K. Contribution of a non-classical HLA gene, HLA-DOA, to the risk of rheumatoid arthritis. Am J Hum Genet 4;99(2):366-74.

Kojima K, Kawai Y, Misawa K, Mimori T, Nagasaki M. STR-realigner: a realignment method for short tandem repeat regions. BMC Genomics 3;17(1):991.

Abou-Taleb H, Yamaguchi K, Matsumura N, Murakami R, Nakai H, Higasa K, Amano Y, Abiko K, Yoshioka Y, Hamanishi J, Koshiyama M, Baba T, Yamada R, Matsuda F, Konishi I, and Mandai M. Comprehensive Assessment of the Expression of the SWI/SNF Complex Defines Two Distinct Prognostic Subtypes of Ovarian Clear Cell Carcinoma. Oncotarget 7(34):54758-54770.

Kawasaki K, Kondoh E, Minamiguchi S, Matsuda F, Higasa K, Fujita K, Mogami H, Chigusa Y, Konishi I. A live-born diploid foetus complicated with partial molar pregnancy presenting with preeclampsia, maternal anaemia, and seemingly huge placenta: a rare case of confined placental mosaicism and literature review. J Obstet Gynaecol Res 42(8):911-7.

Higasa K, Miyake N, Yoshimura J, Okamura K, Niihori T, Saitsu H, Doi K, Shimizu M, Nakabayashi K, Aoki Y, Tsurusaki Y, Morishita S, Kawaguchi T, Migita O, Nakayama K, Nakashima M, Mitsui J, Narahara M, Hayashi K, Funayama R, Yamaguchi D, Ishiura H, Ko WY, Hata K, Nagashima T, Yamada R, Matsubara Y, Umezawa A, Tsuji S, Matsumoto N, Matsuda F. Human Genetic Variation Database, a reference database of genetic variations in the Japanese population. J Hum Genet 61:547-553

Oishi M, Oishi A, Gotoh N, Ogino K, Higasa K, Iida K, Makiyama Y, Morooka S, Matsuda F, Yoshimura N. Next-generation sequencing-based comprehensive molecular analysis of 43 Japanese patients with cone and cone-rod dystrophies. Mol Vis 22:150-160.

Kohda M, Tokuzawa Y, Kishita Y, Nyuzuki H, Moriyama Y, Mizuno Y, Hirata T, Yatsuka Y, Nakachi Y, Yamashita-Sugahara Y, Kato H, Okuda A, Tamaru S, Borna N. N, Banshoya K, Aigaki T, Sato-Miyata Y, Ohnuma K, Suzuki T, Nagao A, Maehata H, Matsuda F, Higasa K, Nagasaki M, Yasuda J, Yamamoto M, Fushimi T, Shimura M, Kaiho-Ichimoto K, Harashima H, Yamazaki T, Mori M, Murayama K, Ohtake A, Okazaki Y. A comprehensive genomic analysis reveals the genetic landscape of mitochondrial respiratory chain complex deficiencies. PLOS Genet 12 (1), e1005679.

-- ~2015 --

Oishi M, Oishi A, Gotoh N, Ogino K, Higasa K, Iida K, Makiyama Y, Morooka S, Matsuda F, Yoshimura N. Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing. Invest Ophthalmol Vis Sci 55(11):7369-7375, 2014.

Maruoka R, Takenouchi T, Torii C, Shimizu A, Misu K, Higasa K, Matsuda F, Ota A, Tanito K, Kuramochi A, Arima Y, Otsuka F, Yoshida Y, Moriyama K, Niimura M, Saya H, Kosaki K. The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: A validation study. Genet Test Mol Biomarkers 18(11):722-735, 2014.

Narahara M, Higasa K, Nakamura S, Tabara Y, Kawaguchi T, Ishii M, Matsubara K, Matsuda F, Yamada R. Large-scale East-Asian eQTL mapping reveals novel candidate genes for LD mapping and the genomic landscape of transcriptional effects of sequence variants. PLoS One 9(6):e100924 2014.

Tahira T, Yahara K, Kukita Y, Higasa K, Kato K, Wake N, Hayashi K. A definitive haplotype map of structural variations determined by microarray analysis of duplicated haploid genomes. Genomics Data 2:55-59, 2014.

Yamamoto H, Higasa K, Sakaguchi M, Shien K, Soh J, Ichimura K, Furukawa M, Hashida S, Tsukuda K, Takigawa N, Matsuo K, Kiura K, Miyoshi S, Matsuda F, Toyooka S. Novel Germline Mutation in the Transmembrane Domain of HER2 in Familial Lung Adenocarcinomas. J. Natl Cancer Inst 106(1), 2014.

Takahashi Y, Fukuda Y, Yoshimura J, Toyoda A, Kurppa K, Moritoyo H, Belzil VV, Dion PA, Higasa K, Doi K, Ishiura H, Mitsui J, Date H, Ahsan B, Matsukawa T, Ichikawa Y, Moritoyo T, Ikoma M, Hashimoto T, Kimura F, Murayama S, Onodera O, Nishizawa M, Yoshida M, Atsuta N, Sobue G; JaCALS, Fifita JA, Williams KL, Blair IP, Nicholson GA, Gonzalez-Perez P, Brown RH Jr, Nomoto M, Elenius K, Rouleau GA, Fujiyama A, Morishita S, Goto J, Tsuji S. ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19. Am J Hum Genet 93(5):900-5, 2013.

Mitsui J, Matsukawa T, Ishiura H, Higasa K, Yoshimura J, Saito TL, Ahsan B, Takahashi Y, Goto J, Iwata A, Niimi Y, Riku Y, Goto Y, Mano K, Yoshida M, Morishita S, Tsuji S. CSF1R mutations identified in three families with autosomal dominantly inherited leukoencephalopathy. Am J Med Genet B Neuropsychiatr Genet 159B(8):951-7, 2012.

Nishijima T, Komatsu H, Higasa K, Takano M, Tsuchiya K, Hayashida T, Oka S, Gatanaga H. Single Nucleotide Polymorphisms in ABCC2 Associate With Tenofovir-Induced Kidney Tubular Dysfunction in Japanese Patients With HIV-1 Infection: A Pharmacogenetic Study. Clin Infect Dis, 55(11):1558-67, 2012.

Higasa K, Nikaido M, Saito TL, Yoshimura J, Suzuki Y, Suzuki H, Nishihara H, Aibara M, Ngatunga BP, Kalombo HW, Sugano S, Morishita S, Okada N. Extremely slow rate of evolution in the HOX cluster revealed by comparison between Tanzanian and Indonesian coelacanths. Gene 1;505(2):324-32, 2012.

Okada Y, Shimane K, Kochi Y, Tahira T, Suzuki A, Higasa K, Takahashi A, Horita T, Atsumi T, Ishii T, Okamoto A, Fujio K, Hirakata M, Amano H, Kondo Y, Ito S et al. A genome-wide association study identified AFF1 as a susceptibility locus for systemic lupus eyrthematosus in Japanese. PLOS Genet 8(1):e1002455, 2012.

Okada Y, Hirota T, Kamatani Y, Takahashi A, Ohmiya H, Kumasaka N, Higasa K, Yamaguchi-Kabata Y, Hosono N, Nalls MA, Chen MH et al. Identification of nine novel loci associated with white blood cell subtypes in a Japanese population. PLOS Genet;7(6):e1002067, 2011.

Kukita Y, Yahara K, Tahira T, Higasa K, Sonoda M, Yamamoto K, Kato K, Wake N, Hayashi K. A definitive haplotype map as determined by genotyping duplicated haploid genomes finds a predominant haplotype preference at copy-number variation events. Am J Hum Genet 11;86(6):918-28, 2010.

Tahira T, Kukita Y, Higasa K, Okazaki Y, Yoshinaga A, Hayashi K. Estimation of SNP allele frequencies by SSCP analysis of pooled DNA. Methods Mol Biol 578:193-207, 2009.

Higasa K, Kukita Y, Kato K, Wake N, Tahira T, Hayashi K. Evaluation of haplotype inference using definitive haplotype data obtained from complete hydatidiform moles, and its significance for the analyses of positively selected regions. PLOS Genet 5(5):e1000468, 2009.

Guan Y, Hata N, Kuga D, Yoshimoto K, Mizoguchi M, Shono T, Suzuki S, Tahira T, Kukita Y, Higasa K, Yokoyama N, Nagata S, Iwaki T, Sasaki T, Hayashi K. Narrowing of the regions of allelic losses of chromosome 1p36 in meningioma tissues by an improved SSCP analysis. Int J Cancer 15;122(8):1820-6, 2008.

Higasa K, Miyatake K, Kukita Y, Tahira T, Hayashi K, D-HaploDB: a database of definitive haplotypes determined by genotyping complete hydatidiform mole samples. Nucleic Acids Res 35: D685-689, 2007.

Tahira T, Okazaki Y, Miura K, Yoshinaga A, Masumoto K, Higasa K, Kukita Y and Hayashi K. QSNPlite, a software system for quantitative analysis of SNPs based on capillary array SSCP analysis. Electrophoresis 27(19):3869-3878, 2006.

Higasa K, Hayashi K. Periodicity of SNP distribution around transcription start sites. BMC Genomics 7:66, 2006.

Hata N, Yoshimoto K, Yokoyama N, Mizoguchi M, Shono T, Tahira T, Kukita Y, Higasa K, Guan Y, Nagata S, Iwaki T, Sasaki T, Hayashi K. Allelic losses of chromosome 10 in glioma tissues detected by quantitative single-strand conformation polymorphism analysis. Clin Chem 52(3):370-378, 2005.

Kukita Y, Miyatake K, Stokowski R, Hinds D, Higasa K(Co-first author), Wake N, Hirakawa T, Kato H, Matsuda T, Pant K, Cox D, Tahira T, Hayashi K. Genome-wide definitive haplotypes determined using a collection of complete hydatidiform moles. Genome Res 15(11):1511-1518, 2005.

Tahira T, Baba S, Higasa K (Co-first author), Kukita Y, Suzuki Y, Sugano S, Hayashi K. dbQSNP: a database of SNPs in human promoter regions with allele frequency information determined by single-strand conformation polymorphism-based method. Human Mutation 26(2):69-77, 2005.

Baba S, Kukita Y, Higasa K, Tahira T, Hayashi K. Single-stranded conformational polymorphism analysis using automated capillary array electrophoresis apparatus. BioTechniques 34(4):746-750, 2003.

Higasa K, Kukita Y, Baba S and Hayashi K. A software for machine-independent quantitative interpretation of SSCP in capillary array electrophoresis (QUISCA). BioTechniques 33(6):1342-1348, 2002.

Kukita Y, Higasa K, Baba S, Nakamura M, Manago S, Suzuki A, Tahira T and Hayashi K. A single-strand conformation polymorphism method for the large-scale analysis of mutations/ polymorphisms using capillary array electrophoresis. Electrophoresis 23(14):2259-2266, 2002.

Higasa K, and Hayashi K. Ordered catenation of sequence-tagged sites and multiplex SNP genotyping by sequencing. Nucleic Acids Res 30(3):e11, 2002.

Sasaki T, Tahira T, Suzuki A, Higasa K, Kukita Y, Baba S, Hayashi K. Precise estimation of allele frequencies of single-nucleotide polymorphisms by a quantitative SSCP analysis of pooled DNA. Am J Hum Genet 68(1):214-8, 2001.

Hamamura M, Ozawa H, Kimuro Y, Okouchi J, Higasa K, Iwaki A, Fukumaki Y. Differential decreases in c-fos and aldolase C mRNA expression in the rat cerebellum after repeated administration of methamphetamine. Brain Res Mol Brain Res 64(1):119-31, 1999.

Higasa K, Manabe J, Yubisui T, Sumimoto H, Pung-amritt P, Tanphaichitr V and Fukumaki Y. Molecular basis of hereditary methaemoglobinaemia, types I and II: two novel mutations in the NADH-cytochrome b5 reductase gene. British Journal of Haematology 103:922-930, 1998.