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For: Tadaka S, Hishinuma E, Komaki S, Motoike IN, Kawashima J, Saigusa D, Inoue J, Takayama J, Okamura Y, Aoki Y, Shirota M, Otsuki A, Katsuoka F, Shimizu A, Tamiya G, Koshiba S, Sasaki M, Yamamoto M, Kinoshita K. jMorp updates in 2020: large enhancement of multi-omics data resources on the general Japanese population. Nucleic Acids Res 2021;49:D536-44. [PMID: 33179747 DOI: 10.1093/nar/gkaa1034] [Cited by in Crossref: 35] [Cited by in F6Publishing: 40] [Article Influence: 35.0] [Reference Citation Analysis]
Number Citing Articles
1 Athieniti E, Spyrou GM. A guide to multi-omics data collection and integration for translational medicine. Computational and Structural Biotechnology Journal 2022. [DOI: 10.1016/j.csbj.2022.11.050] [Reference Citation Analysis]
2 Sato Y, Tsuyusaki M, Takahashi-iwanaga H, Fujisawa R, Masamune A, Hamada S, Matsumoto R, Tanaka Y, Kakuta Y, Yamaguchi-kabata Y, Furuse T, Wakana S, Shimura T, Kobayashi R, Shinoda Y, Goitsuka R, Maezawa S, Sadakata T, Sano Y, Furuichi T. Loss of CAPS2/Cadps2 leads to exocrine pancreatic cell injury and intracellular accumulation of secretory granules in mice. Front Mol Biosci 2022;9. [DOI: 10.3389/fmolb.2022.1040237] [Reference Citation Analysis]
3 Shirota H, Komine K, Takahashi M, Takahashi S, Miyauchi E, Niizuma H, Tada H, Shimada M, Niihori T, Aoki Y, Sugiyama I, Kawamura M, Yasuda J, Suzuki S, Iwaya T, Saito M, Saito T, Shibata H, Furukawa T, Ishioka C. Clinical decisions by the molecular tumor board on comprehensive genomic profiling tests in Japan: A retrospective observational study. Cancer Med 2022. [PMID: 36251535 DOI: 10.1002/cam4.5349] [Reference Citation Analysis]
4 Kishita Y, Sugiura A, Onuki T, Ebihara T, Matsuhashi T, Shimura M, Fushimi T, Ichino N, Nagatakidani Y, Nishihata H, Nitta KR, Yatsuka Y, Imai-okazaki A, Wu Y, Osaka H, Ohtake A, Murayama K, Okazaki Y. Strategic validation of variants of uncertain significance inECHS1genetic testing.. [DOI: 10.1101/2022.10.09.22280834] [Reference Citation Analysis]
5 Hanafusa H, Abe S, Ohyama S, Kyono Y, Kido T, Nakasone R, Ashina M, Tanimura K, Nozu K, Fujioka K. Influence of UGT1A1 Genetic Variants on Free Bilirubin Levels in Japanese Newborns: A Preliminary Study. IJERPH 2022;19:13090. [DOI: 10.3390/ijerph192013090] [Reference Citation Analysis]
6 Shiga N, Yamaguchi-Kabata Y, Igeta S, Yasuda J, Tadaka S, Minato T, Watanabe Z, Kanno J, Tamiya G, Fuse N, Kinoshita K, Kure S, Kondo A, Tachibana M, Yamamoto M, Yaegashi N, Sugawara J. 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. Hum Genome Var 2022;9:34. [PMID: 36171209 DOI: 10.1038/s41439-022-00213-w] [Reference Citation Analysis]
7 Aihara Y, Shirota M, Kikuchi A, Katata Y, Abe Y, Niihori T, Funayama R, Nakayama K, Aoki Y, Kure S. A novel variant in the transmembrane 4 domain of ANO3 identified in a two-year-old girl with developmental delay and tremor. J Hum Genet 2022. [PMID: 36167772 DOI: 10.1038/s10038-022-01082-5] [Reference Citation Analysis]
8 Otsuki A, Okamura Y, Ishida N, Tadaka S, Takayama J, Kumada K, Kawashima J, Taguchi K, Minegishi N, Kuriyama S, Tamiya G, Kinoshita K, Katsuoka F, Yamamoto M. Construction of a trio-based structural variation panel utilizing activated T lymphocytes and long-read sequencing technology. Commun Biol 2022;5:991. [PMID: 36127505 DOI: 10.1038/s42003-022-03953-1] [Reference Citation Analysis]
9 Yuan J, Higuchi Y, Ando M, Matsuura E, Hashiguchi A, Yoshimura A, Nakamura T, Sakiyama Y, Mitsui J, Ishiura H, Tsuji S, Takashima H. Multi-type RFC1 repeat expansions as the most common cause of hereditary sensory and autonomic neuropathy. Front Neurol 2022;13:986504. [DOI: 10.3389/fneur.2022.986504] [Reference Citation Analysis]
10 Ogawa A, Ohira S, Ikuta T, Kato Y, Yanagida S, Ishii Y, Kanda Y, Nishida M, Inoue A, Wei F. Activation of the urotensin-II receptor by anti-COVID-19 drug remdesivir induces cardiomyocyte dysfunction.. [DOI: 10.1101/2022.08.08.503256] [Reference Citation Analysis]
11 Yoshioka N, Kurose M, Yano M, Tran DM, Okuda S, Mori-Ochiai Y, Horie M, Nagai T, Nishino I, Shibata S, Takebayashi H. Isoform-specific mutation in Dystonin-b gene causes late-onset protein aggregate myopathy and cardiomyopathy. Elife 2022;11:e78419. [PMID: 35942699 DOI: 10.7554/eLife.78419] [Reference Citation Analysis]
12 Komatsu K, Fukumura S, Minagawa K, Nakashima M, Saitsu H. A new case of concurrent existence of PRRT2-associated paroxysmal movement disorders with c.649dup variant and 16p11.2 microdeletion syndrome. Brain and Development 2022;44:474-479. [DOI: 10.1016/j.braindev.2022.03.008] [Reference Citation Analysis]
13 Daida K, Shimonaka S, Shiba-Fukushima K, Ogata J, Yoshino H, Okuzumi A, Hatano T, Motoi Y, Hirunagi T, Katsuno M, Shindou H, Funayama M, Nishioka K, Hattori N, Imai Y. α-Synuclein V15A Variant in Familial Parkinson's Disease Exhibits a Weaker Lipid-Binding Property. Mov Disord 2022. [PMID: 35894540 DOI: 10.1002/mds.29162] [Reference Citation Analysis]
14 Teruyama F, Kuno A, Murata Y, Nakagawa T, Shiba-Ishii A, Yuguchi S, Noguchi M. Mutational landscape of primary breast angiosarcoma with repeated resection and recurrence over a 15-year period: A case report. Pathol Int 2022. [PMID: 35801418 DOI: 10.1111/pin.13257] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
15 Hishinuma E, Narita Y, Obuchi K, Ueda A, Saito S, Tadaka S, Kinoshita K, Maekawa M, Mano N, Hirasawa N, Hiratsuka M. Importance of Rare DPYD Genetic Polymorphisms for 5-Fluorouracil Therapy in the Japanese Population. Front Pharmacol 2022;13:930470. [DOI: 10.3389/fphar.2022.930470] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
16 Gu J, Zhao H, Guo X, Sun H, Xu J, Wei Y. A high‐performance SNP panel developed by machine‐learning approaches for characterizing genetic differences of Southern and Northern Han Chinese, Korean, and Japanese individuals. Electrophoresis 2022;43:1183-1192. [DOI: 10.1002/elps.202100184] [Reference Citation Analysis]
17 Wojcik GL, Murphy J, Edelson JL, Gignoux CR, Ioannidis AG, Manning A, Rivas MA, Buyske S, Hendricks AE. Opportunities and challenges for the use of common controls in sequencing studies. Nat Rev Genet 2022. [PMID: 35581355 DOI: 10.1038/s41576-022-00487-4] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 3.0] [Reference Citation Analysis]
18 Mishra R, Kulshreshtha S, Mandal K, Khurana A, Diego‐álvarez D, Pradas L, Saxena R, Phadke S, Moirangthem A, Masih S, Sud S, Verma IC, Dua Puri R. COASY related pontocerebellar hypoplasia type 12: A common Indian mutation with expansion of the phenotypic spectrum. American J of Med Genetics Pt A. [DOI: 10.1002/ajmg.a.62768] [Reference Citation Analysis]
19 Takamatsu G, Yanagi K, Koganebuchi K, Yoshida F, Lee JS, Toyama K, Hattori K, Katagiri C, Kondo T, Kunugi H, Kimura R, Kaname T, Matsushita M. Haplotype phasing of a bipolar disorder pedigree revealed rare multiple mutations of SPOCD1 gene in the 1p36-35 susceptibility locus. J Affect Disord 2022;310:96-105. [PMID: 35504398 DOI: 10.1016/j.jad.2022.04.150] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
20 Higashigawa S, Matsubayashi H, Kiyozumi Y, Kado N, Nishimura S, Oishi T, Sugino T, Fushiki K, Shirasu H, Yasui H, Mamesaya N, Fukuzaki N, Kunitomo K, Horiuchi Y, Kenmotsu H, Serizawa M. Present status of germline findings in precision medicine for Japanese cancer patients: issues in the current system. Jpn J Clin Oncol 2022:hyac046. [PMID: 35411369 DOI: 10.1093/jjco/hyac046] [Reference Citation Analysis]
21 Morikawa R, Watanabe Y, Igeta H, Arta RK, Ikeda M, Okazaki S, Hoya S, Saito T, Otsuka I, Egawa J, Tanifuji T, Iwata N, Someya T. Novel missense SETD1A variants in Japanese patients with schizophrenia: Resequencing and association analysis. Psychiatry Research 2022;310:114481. [DOI: 10.1016/j.psychres.2022.114481] [Reference Citation Analysis]
22 Yoshioka N, Kurose M, Yano M, Tran DM, Okuda S, Mori-ochiai Y, Horie M, Nagai T, Nishino I, Shibata S, Takebayashi H. Isoform-specific mutation in Dystonin-b gene causes late-onset protein aggregate myopathy and cardiomyopathy.. [DOI: 10.1101/2022.03.17.484743] [Reference Citation Analysis]
23 Suhre K, Stephan N, Zaghlool S, Triggle CR, Robinson RJ, Evans AM, Halama A. Matching Drug Metabolites from Non-Targeted Metabolomics to Self-Reported Medication in the Qatar Biobank Study. Metabolites 2022;12:249. [DOI: 10.3390/metabo12030249] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
24 Hiraide T, Shimizu K, Miyamoto S, Aoto K, Nakashima M, Yamaguchi T, Kosho T, Ogata T, Saitsu H. Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing. J Hum Genet. [DOI: 10.1038/s10038-022-01016-1] [Reference Citation Analysis]
25 Tong D, Tanaka M, Eguchi H, Okazaki Y, Muramatsu M, Arai T. COL17A1 germline variant p.Ser1029Ala and mucosal malignant melanoma: An autopsy study. Mol Clin Oncol 2022;16:32. [PMID: 34987801 DOI: 10.3892/mco.2021.2465] [Reference Citation Analysis]
26 Shimura M, Onuki T, Sugiyama Y, Matsuhashi T, Ebihara T, Fushimi T, Tajika M, Ichimoto K, Matsunaga A, Tsuruoka T, Nitta KR, Imai-Okazaki A, Yatsuka Y, Kishita Y, Ohtake A, Okazaki Y, Murayama K. Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G > A. Mitochondrion 2021;63:1-8. [PMID: 34933128 DOI: 10.1016/j.mito.2021.12.005] [Reference Citation Analysis]
27 Komaki S, Ohmomo H, Hachiya T, Sutoh Y, Ono K, Furukawa R, Umekage S, Otsuka-Yamasaki Y, Tanno K, Sasaki M, Shimizu A. Longitudinal DNA methylation dynamics as a practical indicator in clinical epigenetics. Clin Epigenetics 2021;13:219. [PMID: 34903243 DOI: 10.1186/s13148-021-01202-6] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 3.0] [Reference Citation Analysis]
28 Enomoto N, Hayashi T, Matsuura T, Tanaka K, Takeuchi R, Tomita G, Mori R. The second Japanese family with Malattia Leventinese/Doyne honeycomb retinal dystrophy. Doc Ophthalmol 2021. [PMID: 34822027 DOI: 10.1007/s10633-021-09859-3] [Reference Citation Analysis]
29 Huang D, Zhou Y, Yi X, Fan X, Wang J, Yao H, Sham PC, Hao J, Chen K, Li MJ. VannoPortal: multiscale functional annotation of human genetic variants for interrogating molecular mechanism of traits and diseases. Nucleic Acids Res 2021:gkab853. [PMID: 34570217 DOI: 10.1093/nar/gkab853] [Cited by in Crossref: 9] [Cited by in F6Publishing: 12] [Article Influence: 9.0] [Reference Citation Analysis]
30 Saigusa D, Hishinuma E, Matsukawa N, Takahashi M, Inoue J, Tadaka S, Motoike IN, Hozawa A, Izumi Y, Bamba T, Kinoshita K, Ekroos K, Koshiba S, Yamamoto M. Comparison of Kit-Based Metabolomics with Other Methodologies in a Large Cohort, towards Establishing Reference Values. Metabolites 2021;11:652. [PMID: 34677367 DOI: 10.3390/metabo11100652] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
31 Shido K, Kojima K, Yoshida-Akai S, Kikuchi K, Hatamochi A, Aiba S, Yamasaki K. Ehlers-Danlos syndrome type IV with a novel COL3A1 exon 14 skipping variation confirmed by Tohoku Medical Megabank Organization genomic database. J Dermatol 2021;48:1918-22. [PMID: 34453356 DOI: 10.1111/1346-8138.16131] [Reference Citation Analysis]
32 Park KS. Two Approaches for a Genetic Analysis of Pompe Disease: A Literature Review of Patients with Pompe Disease and Analysis Based on Genomic Data from the General Population. Children (Basel) 2021;8:601. [PMID: 34356580 DOI: 10.3390/children8070601] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
33 Watanabe K, Nakashima M, Kumada S, Mashimo H, Enokizono M, Yamada K, Kato M, Saitsu H. Identification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature review. J Hum Genet 2021. [PMID: 34211110 DOI: 10.1038/s10038-021-00956-4] [Cited by in Crossref: 1] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
34 Hishinuma E, Shimada M, Matsukawa N, Saigusa D, Li B, Kudo K, Tsuji K, Shigeta S, Tokunaga H, Kumada K, Komine K, Shirota H, Aoki Y, Motoike IN, Yasuda J, Kinoshita K, Yamamoto M, Koshiba S, Yaegashi N. Wide-Targeted Metabolome Analysis Identifies Potential Biomarkers for Prognosis Prediction of Epithelial Ovarian Cancer. Toxins (Basel) 2021;13:461. [PMID: 34209281 DOI: 10.3390/toxins13070461] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 2.0] [Reference Citation Analysis]
35 Dato S, Crocco P, Rambaldi Migliore N, Lescai F. Omics in a Digital World: The Role of Bioinformatics in Providing New Insights Into Human Aging. Front Genet 2021;12:689824. [PMID: 34178042 DOI: 10.3389/fgene.2021.689824] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
36 Maruyama K, Kokame K. Estimating the frequencies of pathogenic variants of antithrombin, protein C, and protein S using a public database and expression experiments. Nihon Kessen Shiketsu Gakkaishi 2021;32:635-637. [DOI: 10.2491/jjsth.32.635] [Reference Citation Analysis]