| 1. |
|
Saijo Naoya, Yaoita Hisao, Takayama Jun, et al. A Prevalent TMEM260 Deletion Causes Conotruncal Heart Defects, Including Truncus Arteriosus. American Journal of Medical Genetics Part A. 2025; 197 (3): . doi:10.1002/ajmg.a.63906 |
|
| 2. |
|
Iwafuchi Sota, Uchida Nao, Saijo Naoya, et al. Idiopathic infantile hypercalcemia with a CYP24A1 variant triggered by vitamin D supplementation in fortified milk: A case report. Clinical Pediatric Endocrinology. 2025; 34 (1): 2024-0049. doi:10.1297/cpe.2024-0049 |
|
| 3. |
|
Tokioka Sayuri, Takase Masato, Nakaya Naoki, et al. Sex difference in genetic risk in the prevalence of atrial fibrillation. Heart Rhythm. 2025; : . doi:10.1016/j.hrthm.2025.03.1974 |
|
| 4. |
|
Hatzikotoulas Konstantinos, Southam Lorraine, Stefansdottir Lilja, et al. Translational genomics of osteoarthritis in 1,962,069 individuals. Nature. 2025; : . doi:10.1038/s41586-025-08771-z |
|
| 5. |
|
Yamamoto Yuji, Shirai Yuya, Sonehara Kyuto, et al. Dissecting cross-population polygenic heterogeneity across respiratory and cardiometabolic diseases. Nature Communications. 2025; 16 (1): 3765. doi:10.1038/s41467-025-58149-y |
|
| 6. |
|
Ohseto Hisashi, Ishikuro Mami, Obara Taku, et al. Preeclampsia prediction with maternal and paternal polygenic risk scores: the TMM BirThree Cohort Study. Scientific Reports. 2025; 15 (1): 13743. doi:10.1038/s41598-025-97291-x |
|
| 7. |
|
Mizuno Satoshi, Nagaie Satoshi, Sugawara Junichi, et al. Early prediction of hypertensive disorders of pregnancy toward preventive early intervention. AJOG Global Reports. 2024; 4 (4): 100383. doi:10.1016/j.xagr.2024.100383 |
|
| 8. |
|
Kawashima Aritomo, Kodama Kaori, Okubo Yukimune, et al. Long‐term clinical observation of patients with heterozygous KIF1A variants. American Journal of Medical Genetics Part A. 2024; 194 (10): . doi:10.1002/ajmg.a.63656 |
|
| 9. |
|
Takayama Jun, Makino Satoshi, Funayama Takamitsu, et al. A fine‐scale genetic map of the Japanese population. Clinical Genetics. 2024; 106 (3): 284-292. doi:10.1111/cge.14536 |
|
| 10. |
|
Ohseto Hisashi, Takahashi Ippei, Narita Akira, et al. Risk Factors, Prognosis, Influence on the Offspring, and Genetic Architecture of Perinatal Depression Classified Based on the Depressive Symptom Trajectory. Depression and Anxiety. 2024; 2024 : 1-13. doi:10.1155/2024/6622666 |
|
| 11. |
|
Tanabe Hayato, Sato Masahiro, Miyake Akimitsu, et al. Machine learning-based reproducible prediction of type 2 diabetes subtypes. Diabetologia. 2024; 67 (11): 2446-2458. doi:10.1007/s00125-024-06248-8 |
|
| 12. |
|
Nakamura Haruhiko, Kikuchi Atsuo, Sakai Hideyuki, et al. Case Report: Identification of a CARD8 variant in all three patients with PFAPA syndrome complicated with Kawasaki disease. Frontiers in Pediatrics. 2024; 12 : . doi:10.3389/fped.2024.1340263 |
|
| 13. |
|
Suzuki Tomohisa, Ninomiya Kota, Funayama Takamitsu, et al. Next-generation sequencing analysis with a population-specific human reference genome. Genes & Genetic Systems. 2024; 99 : 24-00112. doi:10.1266/ggs.24-00112 |
|
| 14. |
|
Takahashi Ippei, Ohseto Hisashi, Ueno Fumihiko, et al. Genome-wide association study based on clustering by obesity-related variables uncovers a genetic architecture of obesity in the Japanese and the UK populations. Heliyon. 2024; 10 (16): e36023. doi:10.1016/j.heliyon.2024.e36023 |
|
| 15. |
|
Takase Masato, Hirata Takumi, Nakaya Naoki, et al. Associations of combined genetic and lifestyle risks with hypertension and home hypertension. Hypertension Research. 2024; 47 (8): 2064-2074. doi:10.1038/s41440-024-01705-8 |
|
| 16. |
|
Hanyuda Akiko, Raita Yoshihiko, Ninomiya Takahiro, et al. Metabolomic Profiling of Open-Angle Glaucoma Etiologic Endotypes: Tohoku Multi-Omics Glaucoma Study. Investigative Ophthalmology & Visual Science. 2024; 65 (13): 44. doi:10.1167/iovs.65.13.44 |
|
| 17. |
|
Takase Masato, Nakaya Naoki, Nakamura Tomohiro, et al. Genetic Risk, Healthy Lifestyle Adherence, and Risk of Developing Diabetes in the Japanese Population. Journal of Atherosclerosis and Thrombosis. 2024; 31 (12): 64906. doi:10.5551/jat.64906 |
|
| 18. |
|
Harada Sei, Iida Miho, Miyagawa Naoko, et al. Study Profile of the Tsuruoka Metabolomics Cohort Study (TMCS). Journal of Epidemiology. 2024; 34 (8): JE20230192. doi:10.2188/jea.JE20230192 |
|
| 19. |
|
Yaoita Hisao, Kawai Eiichiro, Takayama Jun, et al. Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population. Journal of Human Genetics. 2024; 69 (5): 177-183. doi:10.1038/s10038-024-01223-y |
|
| 20. |
|
Ojima Takafumi, Namba Shinichi, Suzuki Ken, et al. Body mass index stratification optimizes polygenic prediction of type 2 diabetes in cross-biobank analyses. Nature Genetics. 2024; 56 (6): 1100-1109. doi:10.1038/s41588-024-01782-y |
|
| 21. |
|
Narumi Satoshi, Nagasaki Keisuke, Kiriya Mitsuo, et al. Functional variants in a TTTG microsatellite on 15q26.1 cause familial nonautoimmune thyroid abnormalities. Nature Genetics. 2024; 56 (5): 869-876. doi:10.1038/s41588-024-01735-5 |
|
| 22. |
|
Namba Shinichi, Akiyama Masato, Hamanoue Haruka, et al. Inconsistent embryo selection across polygenic score methods. Nature Human Behaviour. 2024; 8 (12): 2264-2267. doi:10.1038/s41562-024-02019-y |
|
| 23. |
|
Tadaka Shu, Kawashima Junko, Hishinuma Eiji, et al. jMorp: Japanese Multi-Omics Reference Panel update report 2023. Nucleic Acids Research. 2024; 52 (D1): D622-D632. doi:10.1093/nar/gkad978 |
|
| 24. |
|
Akiyama Masato, Tamiya Gen, Fujiwara Kohta, et al. Genetic Risk Stratification of Primary Open-Angle Glaucoma in Japanese Individuals. Ophthalmology. 2024; 131 (11): 1271-1280. doi:10.1016/j.ophtha.2024.05.026 |
|
| 25. |
|
Takase Masato, Nakaya Naoki, Nakamura Tomohiro, et al. Genetic risk, lifestyle adherence, and risk of developing hyperuricaemia in a Japanese population. Rheumatology. 2024; : . doi:10.1093/rheumatology/keae492 |
|
| 26. |
|
Mizuno Satoshi, Wagata Maiko, Nagaie Satoshi, et al. Development of phenotyping algorithms for hypertensive disorders of pregnancy (HDP) and their application in more than 22,000 pregnant women. Scientific Reports. 2024; 14 (1): 6292. doi:10.1038/s41598-024-55914-9 |
|
| 27. |
|
Inotani Toshiki, Horaguchi Akira, Morishita Yuko, et al. Treatment of ZC4H2 Variant-Associated Spastic Paraplegia with Selective Dorsal Rhizotomy and Intensive Postoperative Rehabilitation: A Case Report. The Tohoku Journal of Experimental Medicine. 2024; 262 (4): 2024.J004. doi:10.1620/tjem.2024.J004 |
|
| 28. |
|
Mizuno Satoshi, Nagaie Satoshi, Tamiya Gen, et al. Establishment of the early prediction models of low-birth-weight reveals influential genetic and environmental factors: a prospective cohort study. BMC Pregnancy and Childbirth. 2023; 23 (1): 628. doi:10.1186/s12884-023-05919-5 |
|
| 29. |
|
Li Xue, Ono Chiaki, Warita Noriko, et al. Comprehensive evaluation of machine learning algorithms for predicting sleep–wake conditions and differentiating between the wake conditions before and after sleep during pregnancy based on heart rate variability. Frontiers in Psychiatry. 2023; 14 : . doi:10.3389/fpsyt.2023.1104222 |
|
| 30. |
|
Takase Masato, Nakaya Naoki, Nakamura Tomohiro, et al. Influence of Diabetes Family History on the Associations of Combined Genetic and Lifestyle Risks with Diabetes in the Tohoku Medical Megabank Community-Based Cohort Study. Journal of Atherosclerosis and Thrombosis. 2023; 30 (12): 64425. doi:10.5551/jat.64425 |
|
| 31. |
|
Saito-Hakoda Akiko, Kikuchi Atsuo, Takahashi Tadahisa, et al. Familial Paget’s disease of bone with ocular manifestations and a novel TNFRSF11A duplication variant (72dup27). Journal of Bone and Mineral Metabolism. 2023; 41 (2): 193-202. doi:10.1007/s00774-022-01392-w |
|
| 32. |
|
Sugawara Yuka, Hirakawa Yosuke, Nagasu Hajime, et al. Genome-wide association study of the risk of chronic kidney disease and kidney-related traits in the Japanese population: J-Kidney-Biobank. Journal of Human Genetics. 2023; 68 (2): 55-64. doi:10.1038/s10038-022-01094-1 |
|
| 33. |
|
Nishioka Masaki, Takayama Jun, Sakai Naomi, et al. Deep exome sequencing identifies enrichment of deleterious mosaic variants in neurodevelopmental disorder genes and mitochondrial tRNA regions in bipolar disorder. Molecular Psychiatry. 2023; 28 (10): 4294-4306. doi:10.1038/s41380-023-02096-x |
|
| 34. |
|
Uneoka Saki, Kobayashi Tomoko, Numata-Uematsu Yurika, et al. A Case Series of Patients With MYBPC1 Gene Variants Featuring Undulating Tongue Movements as Myogenic Tremor. Pediatric Neurology. 2023; 146 : 16-20. doi:10.1016/j.pediatrneurol.2023.06.002 |
|
| 35. |
|
Katata Yu, Uneoka Saki, Saijyo Naoya, et al. The longest reported sibling survivors of a severe form of congenital myasthenic syndrome with the ALG14 pathogenic variant. American Journal of Medical Genetics Part A. 2022; 188 (4): 1293-1298. doi:10.1002/ajmg.a.62629 |
|
| 36. |
|
Shibuya Moriei, Yaoita Hisao, Kodama Kaori, et al. A patient with early-onset SMAX3 and a novel variant of ATP7A. Brain and Development. 2022; 44 (1): 63-67. doi:10.1016/j.braindev.2021.08.004 |
|
| 37. |
|
Otsuki Akihito, Okamura Yasunobu, Ishida Noriko, et al. Construction of a trio-based structural variation panel utilizing activated T lymphocytes and long-read sequencing technology. Communications Biology. 2022; 5 (1): 991. doi:10.1038/s42003-022-03953-1 |
|
| 38. |
|
Li Xue, Ono Chiaki, Warita Noriko, et al. Heart Rate Information-Based Machine Learning Prediction of Emotions Among Pregnant Women. Frontiers in Psychiatry. 2022; 12 : . doi:10.3389/fpsyt.2021.799029 |
|
| 39. |
|
Kanoni Stavroula, Graham Sarah E., Wang Yuxuan, et al. Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis. Genome Biology. 2022; 23 (1): 268. doi:10.1186/s13059-022-02837-1 |
|
| 40. |
|
Shiga Naomi, Yamaguchi-Kabata Yumi, Igeta Saori, et al. Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals. Human Genome Variation. 2022; 9 (1): 34. doi:10.1038/s41439-022-00213-w |
|
| 41. |
|
Sugawara Junichi, Ishikuro Mami, Obara Taku, et al. Maternal Baseline Characteristics and Perinatal Outcomes: The Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study. Journal of epidemiology. 2022; 32 (2): 69-79. doi:10.2188/jea.JE20200338 |
|
| 42. |
|
Kanno Miyako, Suzuki Mitsuyoshi, Tanikawa Ken, et al. Heterozygous calcyclin-binding protein/Siah1-interacting protein (CACYBP/SIP) gene pathogenic variant linked to a dominant family with paucity of interlobular bile duct. Journal of Human Genetics. 2022; 67 (7): 393-397. doi:10.1038/s10038-022-01017-0 |
|
| 43. |
|
Ramdas Shweta, Judd Jonathan, Graham Sarah E., et al. A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids. The American Journal of Human Genetics. 2022; 109 (8): 1366-1387. doi:10.1016/j.ajhg.2022.06.012 |
|
| 44. |
|
Narishige Yuta, Yaoita Hisao, Shibuya Moriei, et al. Two Siblings with Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome 4 and a Novel Variant of ATP8A2. The Tohoku Journal of Experimental Medicine. 2022; 256 (4): 2022.J010. doi:10.1620/tjem.2022.J010 |
|
| 45. |
|
Uchida Yasuo, Higuchi Tomoya, Shirota Matsuyuki, et al. Identification and Validation of Combination Plasma Biomarker of Afamin, Fibronectin and Sex Hormone-Binding Globulin to Predict Pre-eclampsia. Biological and Pharmaceutical Bulletin. 2021; 44 (6): 804-815. doi:10.1248/bpb.b20-01043 |
|
| 46. |
|
Suzuki Shiori, Goto Atsushi, Nakatochi Masahiro, et al. Body mass index and colorectal cancer risk: A Mendelian randomization study. Cancer Science. 2021; 112 (4): 1579-1588. doi:10.1111/cas.14824 |
|
| 47. |
|
Ueki Masao, Tamiya Gen. Smooth-threshold multivariate genetic prediction incorporating gene–environment interactions. G3 Genes|Genomes|Genetics. 2021; 11 (12): . doi:10.1093/g3journal/jkab278 |
|
| 48. |
|
Ogishima Soichi, Nagaie Satoshi, Mizuno Satoshi, et al. dbTMM: an integrated database of large-scale cohort, genome and clinical data for the Tohoku Medical Megabank Project. Human Genome Variation. 2021; 8 (1): 44. doi:10.1038/s41439-021-00175-5 |
|
| 49. |
|
Nagaoka Shinichi, Yamaguchi-Kabata Yumi, Shiga Naomi, et al. Estimation of the carrier frequencies and proportions of potential patients by detecting causative gene variants associated with autosomal recessive bone dysplasia using a whole-genome reference panel of Japanese individuals. Human Genome Variation. 2021; 8 (1): 2. doi:10.1038/s41439-020-00133-7 |
|
| 50. |
|
Hozawa Atsushi, Tanno Kozo, Nakaya Naoki, et al. Study profile of the tohoku medical megabank community-based cohort study. Journal of Epidemiology. 2021; 31 (1): 65-76. doi:10.2188/jea.JE20190271 |
|
| 51. |
|
Mitsui Tetsuo, Makino Satoshi, Tamiya Gen, et al. ALOX12 mutation in a family with dominantly inherited bleeding diathesis. Journal of Human Genetics. 2021; 66 (8): 753-759. doi:10.1038/s10038-020-00887-6 |
|
| 52. |
|
Narita Akira, Ueki Masao, Tamiya Gen. Artificial intelligence powered statistical genetics in biobanks. Journal of Human Genetics. 2021; 66 (1): 61-65. doi:10.1038/s10038-020-0822-y |
|
| 53. |
|
Shido Kosuke, Kojima Kaname, Shirota Matsuyuki, et al. GWAS Identified IL4R and the Major Histocompatibility Complex Region as the Associated Loci of Total Serum IgE Levels in 9,260 Japanese Individuals. Journal of Investigative Dermatology. 2021; 141 (11): 2749-2752. doi:10.1016/j.jid.2021.02.762 |
|
| 54. |
|
Graham Sarah E., Clarke Shoa L., Wu Kuan-Han H., et al. The power of genetic diversity in genome-wide association studies of lipids. Nature. 2021; 600 (7890): 675-679. doi:10.1038/s41586-021-04064-3 |
|
| 55. |
|
Takayama Jun, Tadaka Shu, Yano Kenji, et al. Construction and integration of three de novo Japanese human genome assemblies toward a population-specific reference. Nature Communications. 2021; 12 (1): 226. doi:10.1038/s41467-020-20146-8 |
|
| 56. |
|
Gharahkhani Puya, Jorgenson Eric, Hysi Pirro, et al. Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries. Nature Communications. 2021; 12 (1): 1258. doi:10.1038/s41467-020-20851-4 |
|
| 57. |
|
Sakaue Saori, Kanai Masahiro, Tanigawa Yosuke, et al. A cross-population atlas of genetic associations for 220 human phenotypes. Nature Genetics. 2021; 53 (10): 1415-1424. doi:10.1038/s41588-021-00931-x |
|
| 58. |
|
Tadaka Shu, Hishinuma Eiji, Komaki Shohei, et al. jMorp updates in 2020: large enhancement of multi-omics data resources on the general Japanese population. Nucleic Acids Research. 2021; 49 (D1): D536-D544. doi:10.1093/nar/gkaa1034 |
|
| 59. |
|
Kojima Kaname, Shido Kosuke, Tamiya Gen, et al. Facial UV photo imaging for skin pigmentation assessment using conditional generative adversarial networks. Scientific Reports. 2021; 11 (1): 1213. doi:10.1038/s41598-020-79995-4 |
|
| 60. |
|
Sakurai-Yageta Mika, Kumada Kazuki, Gocho Chinatsu, et al. Japonica Array NEO with increased genome-wide coverage and abundant disease risk SNPs. The Journal of Biochemistry. 2021; 170 (3): 399-410. doi:10.1093/jb/mvab060 |
|
| 61. |
|
Shigemizu Daichi, Mitsumori Risa, Akiyama Shintaro, et al. Ethnic and trans-ethnic genome-wide association studies identify new loci influencing Japanese Alzheimer’s disease risk. Translational Psychiatry. 2021; 11 (1): 151. doi:10.1038/s41398-021-01272-3 |
|
| 62. |
|
Okuda Hiroshi, Okamoto Koji, Abe Michiaki, et al. Genome-wide association study identifies new loci for albuminuria in the Japanese population. Clinical and Experimental Nephrology. 2020; 24 (8): 1-9. doi:10.1007/s10157-020-01884-x |
|
| 63. |
|
Koshiba Seizo, Motoike Ikuko N., Saigusa Daisuke, et al. Identification of critical genetic variants associated with metabolic phenotypes of the Japanese population. Communications Biology. 2020; 3 (1): 662. doi:10.1038/s42003-020-01383-5 |
|
| 64. |
|
Kuriyama Shinichi, Metoki Hirohito, Kikuya Masahiro, et al. Cohort Profile: Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study (TMM BirThree Cohort Study): rationale, progress and perspective. International Journal of Epidemiology. 2020; 49 (1): 18-19m. doi:10.1093/ije/dyz169 |
|
| 65. |
|
Kojima Kaname, Tadaka Shu, Katsuoka Fumiki, et al. A genotype imputation method for de-identified haplotype reference information by using recurrent neural network. PLOS Computational Biology. 2020; 16 (10): e1008207. doi:10.1371/journal.pcbi.1008207 |
|
| 66. |
|
Takahashi Yuta, Yoshizoe Kazuki, Ueki Masao, et al. Machine learning to reveal hidden risk combinations for the trajectory of posttraumatic stress disorder symptoms. Scientific Reports. 2020; 10 (1): 21726. doi:10.1038/s41598-020-78966-z |
|
| 67. |
|
Tsuboi Akito, Matsui Hiroyuki, Shiraishi Naru, et al. Design and Progress of Oral Health Examinations in the Tohoku Medical Megabank Project. The Tohoku Journal of Experimental Medicine. 2020; 251 (2): 97-115. doi:10.1620/tjem.251.97 |
|
| 68. |
|
Narita Akira, Nagai Masato, Mizuno Satoshi, et al. Clustering by phenotype and genome-wide association study in autism. Translational Psychiatry. 2020; 10 (1): 290. doi:10.1038/s41398-020-00951-x |
|
| 69. |
|
Takahashi Yuta, Ueki Masao, Yamada Makoto, et al. Improved metabolomic data-based prediction of depressive symptoms using nonlinear machine learning with feature selection. Translational Psychiatry. 2020; 10 (1): 157. doi:10.1038/s41398-020-0831-9 |
|
| 70. |
|
Takahashi Yuta, Ueki Masao, Tamiya Gen, et al. Machine learning for effectively avoiding overfitting is a crucial strategy for the genetic prediction of polygenic psychiatric phenotypes. Translational Psychiatry. 2020; 10 (1): 294. doi:10.1038/s41398-020-00957-5 |
|
| 71. |
|
Akatsuka Jun, Yamamoto Yoichiro, Sekine Tetsuro, et al. Illuminating Clues of Cancer Buried in Prostate MR Image: Deep Learning and Expert Approaches. Biomolecules. 2019; 9 (11): 673. doi:10.3390/biom9110673 |
|
| 72. |
|
Yamaguchi-Kabata Yumi, Yasuda Jun, Uruno Akira, et al. Estimating carrier frequencies of newborn screening disorders using a whole-genome reference panel of 3552 Japanese individuals. Human Genetics. 2019; 138 (4): 389-409. doi:10.1007/s00439-019-01998-7 |
|
| 73. |
|
Tadaka Shu, Katsuoka Fumiki, Ueki Masao, et al. 3.5KJPNv2: an allele frequency panel of 3552 Japanese individuals including the X chromosome. Human Genome Variation. 2019; 6 (1): 28. doi:10.1038/s41439-019-0059-5 |
|
| 74. |
|
Sakurai Rieko, Ueki Masao, Makino Satoshi, et al. Outlier detection for questionnaire data in biobanks. International Journal of Epidemiology. 2019; 48 (4): 1305-1315. doi:10.1093/ije/dyz012 |
|
| 75. |
|
Fuse Nobuo, Sakurai-Yageta Mika, Katsuoka Fumiki, et al. Establishment of Integrated Biobank for Precision Medicine and Personalized Healthcare: The Tohoku Medical Megabank Project. JMA Journal. 2019; 2 (2): 113-122. doi:10.31662/jmaj.2019-0014 |
|
| 76. |
|
Numakura Chikahiko, Tamiya Gen, Ueki Masao, et al. Growth impairment in individuals with citrin deficiency. Journal of Inherited Metabolic Disease. 2019; 42 (3): 501-508. doi:10.1002/jimd.12051 |
|
| 77. |
|
Shido Kosuke, Kojima Kaname, Yamasaki Kenshi, et al. Susceptibility Loci for Tanning Ability in the Japanese Population Identified by a Genome-Wide Association Study from the Tohoku Medical Megabank Project Cohort Study. Journal of Investigative Dermatology. 2019; 139 (7): 1605-1608.e13. doi:10.1016/j.jid.2019.01.015 |
|
| 78. |
|
Hashimoto Taeko, Harita Yutaka, Takizawa Keiichi, et al. In Vivo Expression of NUP93 and Its Alteration by NUP93 Mutations Causing Focal Segmental Glomerulosclerosis. Kidney International Reports. 2019; 4 (9): 1312-1322. doi:10.1016/j.ekir.2019.05.1157 |
|
| 79. |
|
Iwasawa Shinya, Kikuchi Atsuo, Wada Yoichi, et al. The prevalence of GALM mutations that cause galactosemia: A database of functionally evaluated variants. Molecular Genetics and Metabolism. 2019; 126 (4): 362-367. doi:10.1016/j.ymgme.2019.01.018 |
|
| 80. |
|
Yamamoto Yoichiro, Tsuzuki Toyonori, Akatsuka Jun, et al. Automated acquisition of explainable knowledge from unannotated histopathology images. Nature Communications. 2019; 10 (1): 5642. doi:10.1038/s41467-019-13647-8 |
|
| 81. |
|
Ueki Masao, Fujii Masahiro, Tamiya Gen. Quick assessment for systematic test statistic inflation/deflation due to null model misspecifications in genome-wide environment interaction studies. PLOS ONE. 2019; 14 (7): e0219825. doi:10.1371/journal.pone.0219825 |
|
| 82. |
|
Miura Emiri, Tsuchiya Naho, Igarashi Yu, et al. Respiratory resistance among adults in a population-based cohort study in Northern Japan. Respiratory Investigation. 2019; 57 (3): 274-281. doi:10.1016/j.resinv.2018.12.008 |
|
| 83. |
|
Yasuda Jun, Kinoshita Kengo, Katsuoka Fumiki, et al. Genome analyses for the Tohoku Medical Megabank Project towards establishment of personalized healthcare. The Journal of Biochemistry. 2019; 165 (2): 139-158. doi:10.1093/jb/mvy096 |
|
| 84. |
|
Yasuda Jun, Katsuoka Fumiki, Danjoh Inaho, et al. Regional genetic differences among Japanese populations and performance of genotype imputation using whole-genome reference panel of the Tohoku Medical Megabank Project. BMC Genomics. 2018; 19 (1): 551. doi:10.1186/s12864-018-4942-0 |
|
| 85. |
|
Koshiba Seizo, Motoike Ikuko, Saigusa Daisuke, et al. Omics research project on prospective cohort studies from the Tohoku Medical Megabank Project. Genes to Cells. 2018; 23 (6): 406-417. doi:10.1111/gtc.12588 |
|
| 86. |
|
Yamaguchi-Kabata Yumi, Yasuda Jun, Tanabe Osamu, et al. Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals. Journal of Human Genetics. 2018; 63 (2): 213-230. doi:10.1038/s10038-017-0347-1 |
|
| 87. |
|
Kuroha Takeshi, Nagai Keisuke, Gamuyao Rico, et al. Ethylene-gibberellin signaling underlies adaptation of rice to periodic flooding. Science. 2018; 361 (6398): 181-186. doi:10.1126/science.aat1577 |
|
| 88. |
|
Hiyama Gen, Mizushima Shusei, Matsuzaki Mei, et al. Female Japanese quail visually differentiate testosterone-dependent male attractiveness for mating preferences. Scientific Reports. 2018; 8 (1): 10012. doi:10.1038/s41598-018-28368-z |
|
| 89. |
|
Obara Taku, Ishikuro Mami, Tamiya Gen, et al. Potential identification of vitamin B6 responsiveness in autism spectrum disorder utilizing phenotype variables and machine learning methods. Scientific Reports. 2018; 8 (1): 14840. doi:10.1038/s41598-018-33110-w |
|
| 90. |
|
Takai-Igarashi Takako, Kinoshita Kengo, Nagasaki Masao, et al. Security controls in an integrated Biobank to protect privacy in data sharing: rationale and study design. BMC Medical Informatics and Decision Making. 2017; 17 (1): 100. doi:10.1186/s12911-017-0494-5 |
|
| 91. |
|
Ueki Masao, Kawasaki Yoshinori, Tamiya Gen. Detecting genetic association through shortest paths in a bidirected graph. Genetic Epidemiology. 2017; 41 (6): 481-497. doi:10.1002/gepi.22051 |
|
| 92. |
|
Shido K, Kojima K, Hozawa A, et al. 503 Genome-wide association study identifies novel susceptibility loci for tanning ability in Japanese population. Journal of Investigative Dermatology. 2017; 137 (5): S86. doi:10.1016/j.jid.2017.02.523 |
|
| 93. |
|
Hachiya Tsuyoshi, Komaki Shohei, Hasegawa Yutaka, et al. Genome-wide meta-analysis in Japanese populations identifies novel variants at the TMC6–TMC8 and SIX3–SIX2 loci associated with HbA1c. Scientific Reports. 2017; 7 (1): 16147. doi:10.1038/s41598-017-16493-0 |
|
| 94. |
|
Ueki Masao, Tamiya Gen. Smooth-Threshold Multivariate Genetic Prediction with Unbiased Model Selection. Genetic Epidemiology. 2016; 40 (3): 233-243. doi:10.1002/gepi.21958 |
|
| 95. |
|
Araki Yuta, Okamura Ken, Munkhbat Batmunkh, et al. Whole-exome sequencing confirmation of multiple MC1R variants associated with extensive freckles and red hair: Analysis of a Mongolian family. Journal of Dermatological Science. 2016; 84 (2): 216-219. doi:10.1016/j.jdermsci.2016.08.009 |
|
| 96. |
|
Kuriyama Shinichi, Yaegashi Nobuo, Nagami Fuji, et al. The Tohoku Medical Megabank Project: Design and Mission. Journal of Epidemiology. 2016; 26 (9): 493-511. doi:10.2188/jea.JE20150268 |
|
| 97. |
|
Ogino Daisuke, Hashimoto Taeko, Hattori Motoshi, et al. Analysis of the genes responsible for steroid-resistant nephrotic syndrome and/or focal segmental glomerulosclerosis in Japanese patients by whole-exome sequencing analysis. Journal of Human Genetics. 2016; 61 (2): 137-141. doi:10.1038/jhg.2015.122 |
|
| 98. |
|
Okamura Ken, Ohe Rintaro, Abe Yuko, et al. Immunohistopathological analysis of frizzled-4-positive immature melanocytes from hair follicles of patients with Rhododenol-induced leukoderma. Journal of Dermatological Science. 2015; 80 (2): 156-158. doi:10.1016/j.jdermsci.2015.07.015 |
|
| 99. |
|
Sato Hiroko, Uchida Toshihiko, Toyota Kentaro, et al. Association of neonatal hyperbilirubinemia in breast-fed infants with UGT1A1 or SLCOs polymorphisms. Journal of Human Genetics. 2015; 60 (1): 35-40. doi:10.1038/jhg.2014.98 |
|
| 100. |
|
Shimanuki Miwa, Abe Yuko, Tamiya Gen, et al. Positive selection with diversity in oculocutaneous albinisms type 2 gene ( OCA2 ) among Japanese. Pigment Cell & Melanoma Research. 2015; 28 (2): 233-235. doi:10.1111/pcmr.12337 |
|
| 101. |
|
Okamura Ken, Oiso Naoki, Tamiya Gen, et al. Waardenburg syndrome type IIE in a Japanese patient caused by a novel missense mutation in the SOX10 gene. The Journal of Dermatology. 2015; 42 (12): 1211-1212. doi:10.1111/1346-8138.13095 |
|
| 102. |
|
Yoshizawa Junko, Abe Yuko, Oiso Naoki, et al. Variants in melanogenesis-related genes associate with skin cancer risk among Japanese populations. The Journal of Dermatology. 2014; 41 (4): 296-302. doi:10.1111/1346-8138.12432 |
|
| 103. |
|
Iwano Megumi, Igarashi Motoko, Tarutani Yoshiaki, et al. A Pollen Coat–Inducible Autoinhibited Ca2+-ATPase Expressed in Stigmatic Papilla Cells Is Required for Compatible Pollination in the Brassicaceae. The Plant Cell. 2014; 26 (2): 636-649. doi:10.1105/tpc.113.121350 |
|
| 104. |
|
Shibata Kyoko, Hozawa Atsushi, Tamiya Gen, et al. The confounding effect of cryptic relatedness for environmental risks of systolic blood pressure on cohort studies. Molecular Genetics & Genomic Medicine. 2013; 1 (1): 45-53. doi:10.1002/mgg3.4 |
|