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Year Number of Results
1998 2
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2003 5
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2007 2
2008 3
2009 1
2010 3
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2013 5
2015 2
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96 results

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Page 1
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.
Vetro A, Pelorosso C, Balestrini S, Masi A, Hambleton S, Argilli E, Conti V, Giubbolini S, Barrick R, Bergant G, Writzl K, Bijlsma EK, Brunet T, Cacheiro P, Mei D, Devlin A, Hoffer MJV, Machol K, Mannaioni G, Sakamoto M, Menezes MP, Courtin T, Sherr E, Parra R, Richardson R, Roscioli T, Scala M, von Stülpnagel C, Smedley D; TMEM63B collaborators; Genomics England Research Consortium; Torella A, Tohyama J, Koichihara R, Hamada K, Ogata K, Suzuki T, Sugie A, van der Smagt JJ, van Gassen K, Valence S, Vittery E, Malone S, Kato M, Matsumoto N, Ratto GM, Guerrini R. Vetro A, et al. Among authors: sugie a. Am J Hum Genet. 2023 Aug 3;110(8):1356-1376. doi: 10.1016/j.ajhg.2023.06.008. Epub 2023 Jul 7. Am J Hum Genet. 2023. PMID: 37421948 Free PMC article.
Inherited C-terminal TREX1 variants disrupt homology-directed repair to cause senescence and DNA damage phenotypes in Drosophila, mice, and humans.
Chauvin SD, Ando S, Holley JA, Sugie A, Zhao FR, Poddar S, Kato R, Miner CA, Nitta Y, Krishnamurthy SR, Saito R, Ning Y, Hatano Y, Kitahara S, Koide S, Stinson WA, Fu J, Surve N, Kumble L, Qian W, Polishchuk O, Andhey PS, Chiang C, Liu G, Colombeau L, Rodriguez R, Manel N, Kakita A, Artyomov MN, Schultz DC, Coates PT, Roberson EDO, Belkaid Y, Greenberg RA, Cherry S, Gack MU, Hardy T, Onodera O, Kato T, Miner JJ. Chauvin SD, et al. Among authors: sugie a. Nat Commun. 2024 Jun 1;15(1):4696. doi: 10.1038/s41467-024-49066-7. Nat Commun. 2024. PMID: 38824133 Free PMC article.
Functional analysis of RRAS2 pathogenic variants with a Noonan-like phenotype.
Iida T, Igarashi A, Fukunaga K, Aoki T, Hidai T, Yanagi K, Yamamori M, Satou K, Go H, Kosho T, Maki R, Suzuki T, Nitta Y, Sugie A, Asaoka Y, Furutani-Seiki M, Kimura T, Matsubara Y, Kaname T. Iida T, et al. Among authors: sugie a. Front Genet. 2024 Mar 27;15:1383176. doi: 10.3389/fgene.2024.1383176. eCollection 2024. Front Genet. 2024. PMID: 38601074 Free PMC article.
A novel NONO variant that causes developmental delay and cardiac phenotypes.
Itai T, Sugie A, Nitta Y, Maki R, Suzuki T, Shinkai Y, Watanabe Y, Nakano Y, Ichikawa K, Okamoto N, Utsuno Y, Koshimizu E, Fujita A, Hamanaka K, Uchiyama Y, Tsuchida N, Miyake N, Misawa K, Mizuguchi T, Miyatake S, Matsumoto N. Itai T, et al. Among authors: sugie a. Sci Rep. 2023 Jan 18;13(1):975. doi: 10.1038/s41598-023-27770-6. Sci Rep. 2023. PMID: 36653413 Free PMC article.
Heterozygous loss-of-function DHX9 variants are associated with neurodevelopmental disorders: Human genetic and experimental evidences.
Yamada M, Nitta Y, Uehara T, Suzuki H, Miya F, Takenouchi T, Tamura M, Ayabe S, Yoshiki A, Maeno A, Saga Y, Furuse T, Yamada I, Okamoto N, Kosaki K, Sugie A. Yamada M, et al. Among authors: sugie a. Eur J Med Genet. 2023 Aug;66(8):104804. doi: 10.1016/j.ejmg.2023.104804. Epub 2023 Jun 25. Eur J Med Genet. 2023. PMID: 37369308
96 results