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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1957 1
1961 2
1962 1
1963 2
1964 3
1965 3
1966 3
1967 4
1968 4
1969 8
1970 11
1971 13
1972 12
1973 6
1974 5
1975 11
1976 14
1977 12
1978 14
1979 15
1980 10
1981 16
1982 22
1983 16
1984 23
1985 28
1986 25
1987 34
1988 37
1989 37
1990 41
1991 47
1992 54
1993 36
1994 46
1995 65
1996 83
1997 59
1998 66
1999 93
2000 91
2001 86
2002 89
2003 77
2004 91
2005 102
2006 98
2007 124
2008 116
2009 126
2010 105
2011 126
2012 156
2013 145
2014 162
2015 147
2016 153
2017 157
2018 196
2019 178
2020 207
2021 200
2022 216
2023 183
2024 184
2025 216
2026 115

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Search Results

4,393 results

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Page 1
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.
Sidpra J, Sudhakar S, Biswas A, Massey F, Turchetti V, Lau T, Cook E, Alvi JR, Elbendary HM, Jewell JL, Riva A, Orsini A, Vignoli A, Federico Z, Rosenblum J, Schoonjans AS, de Wachter M, Delgado Alvarez I, Felipe-Rucián A, Haridy NA, Haider S, Zaman M, Banu S, Anwaar N, Rahman F, Maqbool S, Yadav R, Salpietro V, Maroofian R, Patel R, Radhakrishnan R, Prabhu SP, Lichtenbelt K, Stewart H, Murakami Y, Löbel U, D'Arco F, Wakeling E, Jones W, Hay E, Bhate S, Jacques TS, Mirsky DM, Whitehead MT, Zaki MS, Sultan T, Striano P, Jansen AC, Lequin M, de Vries LS, Severino M, Edmondson AC, Menzies L, Campeau PM, Houlden H, McTague A, Efthymiou S, Mankad K. Sidpra J, et al. Among authors: murakami y. Brain. 2024 Aug 1;147(8):2775-2790. doi: 10.1093/brain/awae056. Brain. 2024. PMID: 38456468 Free PMC article.
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Pagnamenta AT, Camps C, Giacopuzzi E, Taylor JM, Hashim M, Calpena E, Kaisaki PJ, Hashimoto A, Yu J, Sanders E, Schwessinger R, Hughes JR, Lunter G, Dreau H, Ferla M, Lange L, Kesim Y, Ragoussis V, Vavoulis DV, Allroggen H, Ansorge O, Babbs C, Banka S, Baños-Piñero B, Beeson D, Ben-Ami T, Bennett DL, Bento C, Blair E, Brasch-Andersen C, Bull KR, Cario H, Cilliers D, Conti V, Davies EG, Dhalla F, Dacal BD, Dong Y, Dunford JE, Guerrini R, Harris AL, Hartley J, Hollander G, Javaid K, Kane M, Kelly D, Kelly D, Knight SJL, Kreins AY, Kvikstad EM, Langman CB, Lester T, Lines KE, Lord SR, Lu X, Mansour S, Manzur A, Maroofian R, Marsden B, Mason J, McGowan SJ, Mei D, Mlcochova H, Murakami Y, Németh AH, Okoli S, Ormondroyd E, Ousager LB, Palace J, Patel SY, Pentony MM, Pugh C, Rad A, Ramesh A, Riva SG, Roberts I, Roy N, Salminen O, Schilling KD, Scott C, Sen A, Smith C, Stevenson M, Thakker RV, Twigg SRF, Uhlig HH, van Wijk R, Vona B, Wall S, Wang J, Watkins H, Zak J, Schuh AH, Kini U, Wilkie AOM, Popitsch N, Taylor JC. Pagnamenta AT, et al. Among authors: murakami y. Genome Med. 2023 Nov 9;15(1):94. doi: 10.1186/s13073-023-01240-0. Genome Med. 2023. PMID: 37946251 Free PMC article.
Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis.
Kanoni S, Graham SE, Wang Y, Surakka I, Ramdas S, Zhu X, Clarke SL, Bhatti KF, Vedantam S, Winkler TW, Locke AE, Marouli E, Zajac GJM, Wu KH, Ntalla I, Hui Q, Klarin D, Hilliard AT, Wang Z, Xue C, Thorleifsson G, Helgadottir A, Gudbjartsson DF, Holm H, Olafsson I, Hwang MY, Han S, Akiyama M, Sakaue S, Terao C, Kanai M, Zhou W, Brumpton BM, Rasheed H, Havulinna AS, Veturi Y, Pacheco JA, Rosenthal EA, Lingren T, Feng Q, Kullo IJ, Narita A, Takayama J, Martin HC, Hunt KA, Trivedi B, Haessler J, Giulianini F, Bradford Y, Miller JE, Campbell A, Lin K, Millwood IY, Rasheed A, Hindy G, Faul JD, Zhao W, Weir DR, Turman C, Huang H, Graff M, Choudhury A, Sengupta D, Mahajan A, Brown MR, Zhang W, Yu K, Schmidt EM, Pandit A, Gustafsson S, Yin X, Luan J, Zhao JH, Matsuda F, Jang HM, Yoon K, Medina-Gomez C, Pitsillides A, Hottenga JJ, Wood AR, Ji Y, Gao Z, Haworth S, Yousri NA, Mitchell RE, Chai JF, Aadahl M, Bjerregaard AA, Yao J, Manichaikul A, Hwu CM, Hung YJ, Warren HR, Ramirez J, Bork-Jensen J, Kårhus LL, Goel A, Sabater-Lleal M, Noordam R, Mauro P, Matteo F, McDaid AF, Marques-Vidal P, Wielscher M, Trompet S, Sattar N, Møllehave LT, Munz M, Zeng L, Huang J, Yang B, Poveda A, Kurbasic A, L… See abstract for full author list ➔ Kanoni S, et al. Among authors: murakami y. Genome Biol. 2022 Dec 27;23(1):268. doi: 10.1186/s13059-022-02837-1. Genome Biol. 2022. PMID: 36575460 Free PMC article.
Genomic Profiles of Pathogenic and Moderate-Penetrance Germline Variants Associated With Risk of Early-Onset Lung Adenocarcinoma.
Cho H, Shiraishi K, Sunami K, Momozawa Y, Yoshida T, Matsumoto S, Matsuda K, Saito M, Goto A, Honda T, Mochizuki A, Torasawa M, Daigo Y, Shimizu K, Kunitoh H, Yoshida Y, Hirata M, Shimada Y, Ueki M, Ono H, Gotoh M, Shimoda Igawa Y, Tateishi A, Yamaguchi Y, Inaba Higashiyama R, Machida E, Iwasaki M, Kawai Y, Yasuda H, Hamamoto J, Imoto I, Matsushita H, Takata S, Aoi T, Kaneko S, Kuchiba A, Shimomura A, Fukami M, Hattori K, Ozaki K, Asano Y; NCBN Controls WGS Consortium; Biobank Japan Project; Takano A, Kobayashi M, Miyagi Y, Tanaka K, Suzuki H, Yamaura T, Yoshida T, Goto Y, Horinouchi H, Miyazaki Y, Ito H, Nagashima T, Ohtaki Y, Imai K, Minamiya Y, Okubo K, Inazawa J, Shiraishi Y, Tokunaga K, Kamatani Y, Yatabe Y, Goto K, Tsuboi M, Watanabe SI, Ohe Y, Murakami Y, Matsuo K, Hamamoto R, Kohno T. Cho H, et al. Among authors: murakami y. J Thorac Oncol. 2025 Nov;20(11):1626-1638. doi: 10.1016/j.jtho.2025.06.005. Epub 2025 Jun 15. J Thorac Oncol. 2025. PMID: 40516820 Free article.
TLR7 promotes smoke-induced experimental lung damage through the activity of mast cell tryptase.
Liu G, Haw TJ, Starkey MR, Philp AM, Pavlidis S, Nalkurthi C, Nair PM, Gomez HM, Hanish I, Hsu AC, Hortle E, Pickles S, Rojas-Quintero J, Estepar RSJ, Marshall JE, Kim RY, Collison AM, Mattes J, Idrees S, Faiz A, Hansbro NG, Fukui R, Murakami Y, Cheng HS, Tan NS, Chotirmall SH, Horvat JC, Foster PS, Oliver BG, Polverino F, Ieni A, Monaco F, Caramori G, Sohal SS, Bracke KR, Wark PA, Adcock IM, Miyake K, Sin DD, Hansbro PM. Liu G, et al. Among authors: murakami y. Nat Commun. 2023 Nov 14;14(1):7349. doi: 10.1038/s41467-023-42913-z. Nat Commun. 2023. PMID: 37963864 Free PMC article.
Clinical characteristics of EYS-associated retinal dystrophy in 291 Japanese patients.
Koyanagi Y, Murakami Y, Kominami T, Fukushima M, Goto K, Yokota S, Mizobuchi K, Mawatari G, Torii K, Inoue Y, Ota J, Okuda D, Fujiwara K, Yamaga H, Hisai T, Endo M, Iijima H, Kaida T, Miyata K, Nakazaki S, Hayashi T, Hirami Y, Akiyama M, Terao C, Momozawa Y, Sonoda KH, Nishiguchi KM, Ikeda Y. Koyanagi Y, et al. Among authors: murakami y. NPJ Genom Med. 2025 Dec 6;11(1):3. doi: 10.1038/s41525-025-00541-0. NPJ Genom Med. 2025. PMID: 41353252 Free PMC article.
4,393 results