ゲノム情報に基づく個別化医療の推進
次世代ゲノム解析基盤の構築

Whole-genome sequencing of 3135 individuals representing the genetic diversity of the Japanese population.

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.

J Hum Genet in press.

Novel Pathogenic Variant of ZFYVE26 in Hereditary Spastic Paraplegia

Tada M, Ikeda S, Nakamura M, Hayashi M, Yasukochi Y, Higasa K, Nonaka M, Takahashi M, Yakushij Y

Neurol Clin Neurosci 14:102–104

HMGA2 expression links tumor evolution and microenvironment dynamics to systemic therapy response in clear cell renal cell carcinoma.

Nakamoto T, Yoshida T, Ohe C, Yasukochi Y, Atsumi N, Sano T, Higasa K, Uchida K, Tsuta K, Kinoshita H.

J Immunother Cancer 13(11):e012568.

Anamorelin in Cancer Cachexia: Gut Microbiota Effects and CONUT Score as a Predictor of Response.

Boku S, Yasuda T, Ikoma T, Matsumori E, Yoshiuchi S, Matsuo Y, Higasa K, Kurata T.

In Vivo 39(6):3626-3635.

Elderly-onset iatrogenic cerebral amyloid angiopathy presenting with lobar and deep haemorrhages.

Sakamoto H, Murakami A, Kono Y, Nakamura M, Higasa K, Yakushiji Y.

BMJ Case Rep 18(10):e267435.

Fecal Bifidobacterium serves as a predictor of postoperative recurrence after neoadjuvant chemotherapy in pancreatic cancer.

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.

Gastro Hep Adv 5(1):100779.

Whole-genome sequencing reveals rare and structural variants contributing to psoriasis and identifies CERCAM as a risk gene.

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.

Cell Genom 5(10):100978.

The Arf pathway is required for resolving ER stress during T cell activation.

Sumiyoshi M, Kotani Y, Shimokawa C, Khueangchiangkhwang S, Maekawa Y, Matsuo Y, Yasukochi Y, Higasa K, Kanaho Y, Watanabe T, Matsuda S.

Int Immunol 37(10):611-624.

Molecular Insights into the Superiority of Platelet Lysate over FBS for hASC Expansion and Wound Healing.

Kunieda S, Fukui M, Kuro A, Mitsui T, Li H, Sun Z, Ueda T, Taketani S, Higasa K, Kakudo N.

Cells 14(15):1154.

Nerve Enlargement in Patients with INF2 Variants Causing Peripheral Neuropathy and Focal Segmental Glomerulosclerosis.

Huong QTT, Truc LTN, Ueda H, Fukui K, Higasa K, Sato Y, Takeda S, Hattori M, Tsukaguchi H.

Biomedicines 13(1):127.

Blood DNA virome associates with autoimmune diseases and COVID-19.

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 FN, Okada Y.

Nat Genet 57(1):65-79.

Raman signatures of type A and B influenza viruses: molecular origin of the "catch and kill" inactivation mechanism mediated by micrometric silicon nitride powder.

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.

RSC Chem Biol 6(2):182-208.

Familial exudative vitreoretinopathy with and without pathogenic variants of Norrin/β-catenin signaling genes.

Kondo H, Tsukahara-Kawamura T, Matsushita I, Nagata T, Hayashi T, Nishina S, Higasa K, Uchio E, Kondo M, Sakamoto T, Kusaka S.

Ophthalmol Sci 100514.

Comprehensive HLA Typing from a Current Allele Database Using Next-Generation Sequencing Data.

Kawaguchi S, Higasa K, Yamada R, Matsuda F.

Methods and Protocols: HLA Typing 67-75.

OLIG2 translocates to chromosomes during mitosis via a temperature downshift: A novel neural cold response of mitotic bookmarking.

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.

Gene 891:147829.

Dysbiosis of the gut microbiota as a susceptibility factor for Kawasaki disease.

Teramoto Y, Akagawa S, Hori S, Tsuji S, Higasa K, Kaneko K.

Front Immunol 14:1268453.

Raman fingerprints of SARS-CoV-2 Omicron subvariants: molecular roots of virological characteristics and evolutionary directions.

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.

ACS Infect Dis 9(11):2226-2251.

Raman Multi-Omic Snapshot and Statistical Validation of Structural Differences between Herpes Simplex Type I and Epstein–Barr Viruses.

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.

Int J Mol Sci 24(21):15567.

Relationship between circulating mitochondrial DNA and microRNA in patients with major depression.

Ogata H, Higasa K, Kageyama Y, Tahara H, Shimamoto A, Takekita Y, Koshikawa Y, Nonen S, Kato T, Kinoshita T, Kato M.

J Affect Disord 339:538-546.

Changes in Multiple microRNA Levels with Antidepressant Treatment Are Associated with Remission and Interact with Key Pathways: A Comprehensive microRNA Analysis.

Funatsuki T, Ogata H, Tahara H, Shimamoto A, Takekita Y, Koshikawa Y, Nonen S, Higasa K, Kinoshita T, Kato M.

Int J Mol Sci 24(15):12199.

Characterization of cytoskeletal and structural effects of INF2 variants causing glomerulopathy and neuropathy.

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.

Sci Rep 13(1):12003.

Cold-induced vasodilation response in a Japanese cohort: insights from cold-water immersion and genome-wide association studies.

Yasukochi Y, Sera T, Kohno T, Nakashima Y, Uesugi M, Kudo S.

J Physiol Anthropol 42(1):2.

Rap1 organizes lymphocyte front-back polarity via RhoA signaling and talin1.

Ueda Y, Higasa K, Kamioka Y, Kondo N, Horitani S, Ikeda Y, Bergmeier W, Fukui Y, Kinashi T.

iScience 26(8):107292.

OLIG2 is an in vivo bookmarking transcription factor in the developing neural tube in mouse.

Hayashi S, Oe S, Koike T, Seki-Omura R, Nakano Y, Hirahara Y, Tanaka S, Ito T, Yasukochi Y, Higasa K, Kitada M.

J Neurochem 165(3):303-317.

Ago2 and a miRNA reduce Topoisomerase 1 for enhancing DNA cleavage in antibody diversification by activation-induced cytidine deaminase.

Kobayashi M, Wakaguri H, Shimizu M, Higasa K, Matsuda F, Honjo T.

Proc Natl Acad Sci USA 120(18):e2216918120.

Adenoid Ameloblastoma with BRAF p.V600E Mutation Revealing Ameloblastomatous Origin: A First Case Report.

Noda Y, Sawada S, Sakagami T, Kojima Y, Higasa K, Tsuta K.

Head Neck Pathol 17:788-792.

Areas of Crush Nuclear Streaming Should Be Included as Tumor Content in the Era of Molecular Diagnostics.

Noda Y, Yamaka R, Atsumi N, Higasa K, Tsuta K.

Cancers 15(6):1910.

Deep learning-based predictions of clear and eosinophilic phenotypes in clear cell renal cell carcinoma.

Ohe C, Yoshida T, Amin MB, Uno R, Atsumi N, Yasukochi Y, Ikeda J, Nakamoto T, Noda Y, Kinoshita H, Tsuta K, Higasa K.

Mod Pathol 131:68-78.

Successful pregnancy and delivery in a young-onset hypertrophic cardiomyopathy patient with a novel doublet-base substitution in the MYH7 gene.

Miyawaki N, Toyota T, K Higasa K, T Nakamura, Y Furukawa.

J Cardiol Cases 27(1):8-11.

Multidimensional analyses of the pathomechanism caused by the non-catalytic GNE variant, c.620A>T, in patients with GNE myopathy.

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.

Sci Rep 12(1):21806.

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.

Fukui M, Matsuoka Y, Taketani S, Higasa K, Hihara M, Kuro A, Kakudo N.

Ann Plast Surg 89(6):e51-e59.

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.

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.

Mod Pathol 35(6):816-824.

Multiple Pre-Treatment miRNAs Levels in Untreated Major Depressive Disorder Patients Predict Early Response to Antidepressants and Interact with Key Pathways.

Kato M, Ogata H, Tahara H, Shimamoto A, Takekita Y, Koshikawa Y, Nishida K, Nonen S, Higasa K, Kinoshita T.

Int J Mol Sci 23(7):3873.

PBRM1 Immunohistochemical Expression Profile Correlates with Histomorphological Features and Endothelial Expression of Tumor Vasculature for Clear Cell Renal Cell Carcinoma.

Saiga K, Ohe C, Yoshida T, Ohsugi H, Ikeda J, Atsumi N, Noda Y, Yasukochi Y, Higasa K, Taniguchi H, Kinoshita H, Tsuta K.

Cancers (Basel) 14(4):1062.

Histologic-Based Tumor-Associated Immune Cells Status in Clear Cell Renal Cell Carcinoma Correlates with Gene Signatures Related to Cancer Immunity and Clinical Outcomes.

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.

Biomedicines 10(2):323.

PDK2 leads to cisplatin resistance through suppression of mitochondrial function in ovarian clear cell carcinoma.

Kitamura S, Yamaguchi K, Murakami R, Furutake Y, Higasa K, Abiko K, Hamanishi J, Baba T, Matsumura N, Mandai M.

Cancer Sci 112:4627-4640.

Eosinophilic features in clear cell renal cell carcinoma correlate with outcomes of immune checkpoint and angiogenesis blockade.

Yoshida T, Ohe C, Ikeda J, Atsumi N, Ohsugi H, Sugi M, Higasa K, Saito R, Tsuta K, Matsuda T, Kinoshita H.

J Immunother Cancer 9(9):e002922.

Upregulation of cathepsin L gene under mild cold conditions in young Japanese male adults.

Yasukochi Y, Shin S, Wakabayashi H, Maeda T.

J Physiol Anthropol 40(1):16.

Positive renal familial history in IgA nephropathy is associated with worse renal outcomes: a single-center longitudinal study.

Sato Y, Tsukaguchi H, Higasa K, Kawata N, Inui K, Linh TNT, Quynh TTH, Yoshihiko I, Koiwa F, Yoshimura A.

BMC Nephrol 22(1):230.

Population dynamics in the Japanese Archipelago since the Pleistocene revealed by the complete mitochondrial genome sequences.

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.

Sci Rep 11(1):12018.

Genotype-Phenotype Correlations in RP1-Associated Retinal Dystrophies: A Multi-Center Cohort Study in JAPAN.

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.

J Clin Med 10(11):2265.

Combined Single Nucleotide Variants of ORAI1 and BLK in a Child with Refractory Kawasaki Disease.

Kanda S, Fujii Y, Hori S, Ohmachi T, Yoshimura K, Higasa K, Kaneko K.

Children 8(6):433.

Genome-wide association study of individual differences of human lymphocyte profiles using large-scale cytometry data.

Okada D, Nakamura N, Setoh K, Kawaguchi T, Higasa K, Tabara Y, Matsuda F, Yamada R.

J Hum Genet 66(6):557-567.

Thiazoline-related innate fear stimuli orchestrate hypothermia and anti-hypoxia via sensory TRPA1 activation.

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.

Nat Commun 12(1):2074.

Digenic mutations in ALDH2 and ADH5 impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome.

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.

Sci Adv 6(51):eabd7197.

EYS is a major gene involved in retinitis pigmentosa in Japan: genetic landscapes revealed by stepwise genetic screening.

Numa S, Oishi A, Higasa K, Oishi M, Miyata M, Hasegawa T, Ikeda HO, Otsuka Y, Matsuda F, Tsujikawa A.

Sci Rep 10(1):20770.

Population-specific and trans-ancestry genome-wide analyses identify distinct and shared genetic risk loci for coronary artery disease.

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.

Nat Genet 52(11):1169-1177.

A multi-ethnic meta-analysis identifies novel genes, including ACSL5, associated with amyotrophic lateral sclerosis.

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.

Commun Biol 3(1):526.

Genomic Heritabilities and Correlations of 17 Traits Related to Obesity and Associated Conditions in the Japanese Population.

Gervais O, Ueno K, Kawai Y, Hitomi Y, Misawa K, Teraguchi S, Wang YY, Tokunaga K, Nagasaki M.

G3 (Bethesda) 10(7):2221-2228.

Contribution of Rare Variants of the SLC22A12 Gene to the Missing Heritability of Serum Urate Levels.

Misawa K, Hasegawa T, Mishima E, Jutabha P, Ouchi M, Kojima K, Kawai Y, Matsuo M, Anzai N, Nagasaki M.

Genetics 214(4):1079-1090.

Legacy Data Confounds Genomics Studies.

Anderson-Trocmé L, Farouni R, Bourgey M, Kamatani Y, Higasa K, Seo JS, Kim C, Matsuda F, Gravel S.

Mol Biol Evol 37(1):2-10.

Association of ALPL variants with serum alkaline phosphatase and bone traits in the general Japanese population: The Nagahama Study.

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.

J Hum Genet 65(3):337-343.

Is the population of Sado Island genetically close to the population of western Japan?

Misawa K, Watanabe H, Yokoseki A, Wakasugi M, Onodera O, Narita I, Momotsu T, Sato K, Endo N.

Hum Genome Var 6:26.

IgG4-related disease in the Japanese population: a genome-wide association study.

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.

Lancet Rheumatol 1(1):e14-e22.

Construction of JRG (Japanese reference genome) with single-molecule real-time sequencing.

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.

Hum Genome Var 6:27.

Genetic basis for plasma amino acid concentrations based on absolute quantification: a genome-wide association study in the Japanese population.

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.

Eur J Hum Genet 27(4):621-630.

Construction of full-length Japanese reference panel of class I HLA genes with single-molecule, real-time sequencing.

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.

Pharmacogenomics J 19(2):136-146.

Accurate diagnosis of mismatch repair deficiency in colorectal cancer using high-quality DNA samples from cultured stem cells.

Yamaura T, Miyoshi H, Maekawa H, Morimoto T, Yamamoto T, Kakizaki F, Higasa K, Kawada K, Matsuda F, Sakai Y, Taketo MM.

Oncotarget 9(101):37534-37548.

Regional genetic differences among Japanese populations and performance of genotype imputation using whole-genome reference panel of the Tohoku Medical Megabank Project.

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.

BMC Genomics 19(1):551.

Population-scale whole genome sequencing identifies 271 highly polymorphic short tandem repeats from Japanese population.

Hirata S, Kojima K, Misawa K, Gervais O, Kawai Y, Nagasaki M.

Heliyon 4(5):e00625.

MAFB Mutation Causes Focal Segmental Glomerulosclerosis with Duane Retraction Syndrome.

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.

Kidney Int 94(2):396-407.

Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy.

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.

Nat Genet 50:581-590.

Risk allele of FZD4 gene for familial exudative vitreoretinopathy.

Kondo H, Uchio E, Kusaka S, Higasa K.

Ophthalmic Genet 39(3):405-406.

Exome Sequencing Landscape Analysis in Ovarian Clear Cell Carcinoma Shed Light on Key Chromosomal Regions and Mutation Gene Networks.

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.

Am J Pathol 187(10):2246-2258.

HLA-HD: An accurate HLA typing algorithm for next-generation sequencing data.

Kawaguchi S, Higasa K, Shimizu M, Yamada R, Matsuda F.

Hum Mutat 38(7):788-797.

A burden of rare variants in BMPR2 and KCNK3 contributes to a risk of familial pulmonary arterial hypertension.

Higasa K, Ogawa A, Terao C, Shimizu M, Kosugi S, Yamada R, Date H, Matsubara H, Matsuda F.

BMC Pulm Med 17(1):57.

AP-SKAT: highly-efficient genome-wide rare variant association test.

Hasegawa T, Kojima K, Kawai Y, Misawa K, Mimori T, Nagasaki M.

BMC Genomics 17(1):745.

Contribution of a non-classical HLA gene, HLA-DOA, to the risk of rheumatoid arthritis.

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 AM, Raychaudhuri S, Matsuda F, Yamanaka H, Kamatani Y, Yamamoto K.

Am J Hum Genet 99(2):366-374.

STR-realigner: a realignment method for short tandem repeat regions.

Kojima K, Kawai Y, Misawa K, Mimori T, Nagasaki M.

BMC Genomics 17(1):991.

Comprehensive Assessment of the Expression of the SWI/SNF Complex Defines Two Distinct Prognostic Subtypes of Ovarian Clear Cell Carcinoma.

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, Mandai M.

Oncotarget 7(34):54758-54770.

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.

Kawasaki K, Kondoh E, Minamiguchi S, Matsuda F, Higasa K, Fujita K, Mogami H, Chigusa Y, Konishi I.

J Obstet Gynaecol Res 42(8):911-917.

Human Genetic Variation Database, a reference database of genetic variations in the Japanese population.

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.

J Hum Genet 61:547-553.

Next-generation sequencing-based comprehensive molecular analysis of 43 Japanese patients with cone and cone-rod dystrophies.

Oishi M, Oishi A, Gotoh N, Ogino K, Higasa K, Iida K, Makiyama Y, Morooka S, Matsuda F, Yoshimura N.

Mol Vis 22:150-160.

A comprehensive genomic analysis reveals the genetic landscape of mitochondrial respiratory chain complex deficiencies.

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 NN, 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.

PLOS Genet 12(1):e1005679.

Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing.

Oishi M, Oishi A, Gotoh N, Ogino K, Higasa K, Iida K, Makiyama Y, Morooka S, Matsuda F, Yoshimura N.

Invest Ophthalmol Vis Sci 55(11):7369-7375, 2014.

The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: A validation study.

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.

Genet Test Mol Biomarkers 18(11):722-735, 2014.

Large-scale East-Asian eQTL mapping reveals novel candidate genes for LD mapping and the genomic landscape of transcriptional effects of sequence variants.

Narahara M, Higasa K, Nakamura S, Tabara Y, Kawaguchi T, Ishii M, Matsubara K, Matsuda F, Yamada R.

PLoS One 9(6):e100924, 2014.

A definitive haplotype map of structural variations determined by microarray analysis of duplicated haploid genomes.

Tahira T, Yahara K, Kukita Y, Higasa K, Kato K, Wake N, Hayashi K.

Genomics Data 2:55-59, 2014.

Novel Germline Mutation in the Transmembrane Domain of HER2 in Familial Lung Adenocarcinomas.

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.

J Natl Cancer Inst 106(1), 2014.

ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19.

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.

Am J Hum Genet 93(5):900-905, 2013.

CSF1R mutations identified in three families with autosomal dominantly inherited leukoencephalopathy.

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.

Am J Med Genet B 159B(8):951-957, 2012.

Single Nucleotide Polymorphisms in ABCC2 Associate With Tenofovir-Induced Kidney Tubular Dysfunction in Japanese Patients With HIV-1 Infection: A Pharmacogenetic Study.

Nishijima T, Komatsu H, Higasa K, Takano M, Tsuchiya K, Hayashida T, Oka S, Gatanaga H.

Clin Infect Dis 55(11):1558-1567, 2012.

Extremely slow rate of evolution in the HOX cluster revealed by comparison between Tanzanian and Indonesian coelacanths.

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.

Gene 505(2):324-332, 2012.

A genome-wide association study identified AFF1 as a susceptibility locus for systemic lupus erythematosus in Japanese.

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.

PLOS Genet 8(1):e1002455, 2012.

Identification of nine novel loci associated with white blood cell subtypes in a Japanese population.

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.

PLOS Genet 7(6):e1002067, 2011.

A definitive haplotype map as determined by genotyping duplicated haploid genomes finds a predominant haplotype preference at copy-number variation events.

Kukita Y, Yahara K, Tahira T, Higasa K, Sonoda M, Yamamoto K, Kato K, Wake N, Hayashi K.

Am J Hum Genet 86(6):918-928, 2010.

Estimation of SNP allele frequencies by SSCP analysis of pooled DNA.

Tahira T, Kukita Y, Higasa K, Okazaki Y, Yoshinaga A, Hayashi K.

Methods Mol Biol 578:193-207, 2009.

Evaluation of haplotype inference using definitive haplotype data obtained from complete hydatidiform moles, and its significance for the analyses of positively selected regions.

Higasa K, Kukita Y, Kato K, Wake N, Tahira T, Hayashi K.

PLOS Genet 5(5):e1000468, 2009.

Narrowing of the regions of allelic losses of chromosome 1p36 in meningioma tissues by an improved SSCP analysis.

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.

Int J Cancer 122(8):1820-1826, 2008.

D-HaploDB: a database of definitive haplotypes determined by genotyping complete hydatidiform mole samples.

Higasa K, Miyatake K, Kukita Y, Tahira T, Hayashi K.

Nucleic Acids Res 35:D685-689, 2007.

Genome-wide definitive haplotypes determined using a collection of complete hydatidiform moles.

Kukita Y, Higasa K (Co-first author), Baba S, Nakamura M, Manago S, Suzuki A, Tahira T, Hayashi K.

Genome Res 15(11):1511-1518, 2005.

dbQSNP: a database of SNPs in human promoter regions with allele frequency information determined by single-strand conformation polymorphism-based method.

Tahira T, Baba S, Higasa K (Co-first author), Kukita Y, Suzuki Y, Sugano S, Hayashi K.

Hum Mutat 26(2):69-77, 2005.

Allelic losses of chromosome 10 in glioma tissues detected by quantitative single-strand conformation polymorphism analysis.

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.

Clin Chem 52(3):370-378, 2005.

Single-stranded conformational polymorphism analysis using automated capillary array electrophoresis apparatus.

Baba S, Kukita Y, Higasa K, Tahira T, Hayashi K.

BioTechniques 34(4):746-750, 2003.

A software for machine-independent quantitative interpretation of SSCP in capillary array electrophoresis (QUISCA).

Higasa K, Kukita Y, Baba S, Hayashi K.

BioTechniques 33(6):1342-1348, 2002.

A single-strand conformation polymorphism method for the large-scale analysis of mutations/ polymorphisms using capillary array electrophoresis.

Kukita Y, Higasa K, Baba S, Nakamura M, Manago S, Suzuki A, Tahira T, Hayashi K.

Electrophoresis 23(14):2259-2266, 2002.

Ordered catenation of sequence-tagged sites and multiplex SNP genotyping by sequencing.

Higasa K, Hayashi K.

Nucleic Acids Res 30(3):e11, 2002.

Precise estimation of allele frequencies of single-nucleotide polymorphisms by a quantitative SSCP analysis of pooled DNA.

Sasaki T, Tahira T, Suzuki A, Higasa K, Kukita Y, Baba S, Hayashi K.

Am J Hum Genet 68(1):214-218, 2001.

Differential decreases in c-fos and aldolase C mRNA expression in the rat cerebellum after repeated administration of methamphetamine.

Hamamura M, Ozawa H, Kimuro Y, Okouchi J, Higasa K, Iwaki A, Fukumaki Y.

Brain Res Mol Brain Res 64(1):119-131, 1999.

Molecular basis of hereditary methaemoglobinaemia, types I and II: two novel mutations in the NADH-cytochrome b5 reductase gene.

Higasa K, Manabe J, Yubisui T, Sumimoto H, Pung-amritt P, Tanphaichitr V, Fukumaki Y.

Br J Haematol 103:922-930, 1998.