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Year Number of Results
1993 3
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1995 2
1996 3
1997 4
1998 8
1999 4
2000 1
2001 4
2002 2
2003 1
2004 1
2005 2
2006 5
2007 2
2009 3
2010 2
2011 3
2012 6
2013 5
2014 5
2015 3
2016 1
2017 7
2018 10
2019 15
2020 21
2021 23
2022 21
2023 14
2024 24

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182 results

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Page 1
STAT6 gain-of-function variant exacerbates multiple allergic symptoms.
Takeuchi I, Yanagi K, Takada S, Uchiyama T, Igarashi A, Motomura K, Hayashi Y, Nagano N, Matsuoka R, Sugiyama H, Yoshioka T, Saito H, Kawai T, Miyaji Y, Inuzuka Y, Matsubara Y, Ohya Y, Shimizu T, Matsumoto K, Arai K, Nomura I, Kaname T, Morita H. Takeuchi I, et al. Among authors: kaname t. J Allergy Clin Immunol. 2023 May;151(5):1402-1409.e6. doi: 10.1016/j.jaci.2022.12.802. Epub 2022 Dec 17. J Allergy Clin Immunol. 2023. PMID: 36538978
Human germline gain-of-function in STAT6: from severe allergic disease to lymphoma and beyond.
STAT6 Gain-of-Function International Consortium. Electronic address: sturvey@bcchr.ca; STAT6 Gain-of-Function International Consortium. STAT6 Gain-of-Function International Consortium. Electronic address: sturvey@bcchr.ca, et al. Trends Immunol. 2024 Feb;45(2):138-153. doi: 10.1016/j.it.2023.12.003. Epub 2024 Jan 17. Trends Immunol. 2024. PMID: 38238227 Review.
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities.
Chowdhury F, Wang L, Al-Raqad M, Amor DJ, Baxová A, Bendová Š, Biamino E, Brusco A, Caluseriu O, Cox NJ, Froukh T, Gunay-Aygun M, Hančárová M, Haynes D, Heide S, Hoganson G, Kaname T, Keren B, Kosaki K, Kubota K, Lemons JM, Magriña MA, Mark PR, McDonald MT, Montgomery S, Morley GM, Ohnishi H, Okamoto N, Rodriguez-Buritica D, Rump P, Sedláček Z, Schatz K, Streff H, Uehara T, Walia JS, Wheeler PG, Wiesener A, Zweier C, Kawakami K, Wentzensen IM, Lalani SR, Siu VM, Bi W, Balci TB. Chowdhury F, et al. Among authors: kaname t. Genet Med. 2021 Jul;23(7):1234-1245. doi: 10.1038/s41436-021-01129-6. Epub 2021 Apr 6. Genet Med. 2021. PMID: 33824499 Free article.
Mutation of the mouse klotho gene leads to a syndrome resembling ageing.
Kuro-o M, Matsumura Y, Aizawa H, Kawaguchi H, Suga T, Utsugi T, Ohyama Y, Kurabayashi M, Kaname T, Kume E, Iwasaki H, Iida A, Shiraki-Iida T, Nishikawa S, Nagai R, Nabeshima YI. Kuro-o M, et al. Among authors: kaname t. Nature. 1997 Nov 6;390(6655):45-51. doi: 10.1038/36285. Nature. 1997. PMID: 9363890
Artificial intelligence in medical genomics.
Kamatani Y, Kaname T. Kamatani Y, et al. Among authors: kaname t. J Hum Genet. 2024 Oct;69(10):475. doi: 10.1038/s10038-024-01282-1. Epub 2024 Aug 27. J Hum Genet. 2024. PMID: 39192016 No abstract available.
Four pedigrees with aminoacyl-tRNA synthetase abnormalities.
Okamoto N, Miya F, Tsunoda T, Kanemura Y, Saitoh S, Kato M, Yanagi K, Kaname T, Kosaki K. Okamoto N, et al. Among authors: kaname t. Neurol Sci. 2022 Apr;43(4):2765-2774. doi: 10.1007/s10072-021-05626-z. Epub 2021 Sep 28. Neurol Sci. 2022. PMID: 34585293
Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation DNA sequencing.
Hijikata A, Suyama M, Kikugawa S, Matoba R, Naruto T, Enomoto Y, Kurosawa K, Harada N, Yanagi K, Kaname T, Miyako K, Takazawa M, Sasai H, Hosokawa J, Itoga S, Yamaguchi T, Kosho T, Matsubara K, Kuroki Y, Fukami M, Adachi K, Nanba E, Tsuchida N, Uchiyama Y, Matsumoto N, Nishimura K, Ohara O. Hijikata A, et al. Among authors: kaname t. Nucleic Acids Res. 2024 Jan 11;52(1):114-124. doi: 10.1093/nar/gkad1140. Nucleic Acids Res. 2024. PMID: 38015437 Free PMC article.
HECW2-related disorder in four Japanese patients.
Yanagishita T, Hirade T, Shimojima Yamamoto K, Funatsuka M, Miyamoto Y, Maeda M, Yanagi K, Kaname T, Nagata S, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Sakata Y, Kosaki K, Yamamoto T. Yanagishita T, et al. Among authors: kaname t. Am J Med Genet A. 2021 Oct;185(10):2895-2902. doi: 10.1002/ajmg.a.62363. Epub 2021 May 28. Am J Med Genet A. 2021. PMID: 34047014
Whole-exome analysis of 177 pediatric patients with undiagnosed diseases.
Narita K, Muramatsu H, Narumi S, Nakamura Y, Okuno Y, Suzuki K, Hamada M, Yamaguchi N, Suzuki A, Nishio Y, Shiraki A, Yamamori A, Tsumura Y, Sawamura F, Kawaguchi M, Wakamatsu M, Kataoka S, Kato K, Asada H, Kubota T, Muramatsu Y, Kidokoro H, Natsume J, Mizuno S, Nakata T, Inagaki H, Ishihara N, Yonekawa T, Okumura A, Ogi T, Kojima S, Kaname T, Hasegawa T, Saitoh S, Takahashi Y. Narita K, et al. Among authors: kaname t. Sci Rep. 2022 Aug 26;12(1):14589. doi: 10.1038/s41598-022-14161-6. Sci Rep. 2022. PMID: 36028527 Free PMC article.
Recurrent de novo MAPK8IP3 variants cause neurological phenotypes.
Iwasawa S, Yanagi K, Kikuchi A, Kobayashi Y, Haginoya K, Matsumoto H, Kurosawa K, Ochiai M, Sakai Y, Fujita A, Miyake N, Niihori T, Shirota M, Funayama R, Nonoyama S, Ohga S, Kawame H, Nakayama K, Aoki Y, Matsumoto N, Kaname T, Matsubara Y, Shoji W, Kure S. Iwasawa S, et al. Among authors: kaname t. Ann Neurol. 2019 Jun;85(6):927-933. doi: 10.1002/ana.25481. Epub 2019 Apr 25. Ann Neurol. 2019. PMID: 30945334
182 results