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Page 1
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Am J Hum Genet. 2022 Apr 7;109(4):601-617. doi: 10.1016/j.ajhg.2022.03.002.
Am J Hum Genet. 2022.
PMID: 35395208
Free PMC article.
SYT1-associated neurodevelopmental disorder: a case series.
Baker K, Gordon SL, Melland H, Bumbak F, Scott DJ, Jiang TJ, Owen D, Turner BJ, Boyd SG, Rossi M, Al-Raqad M, Elpeleg O, Peck D, Mancini GMS, Wilke M, Zollino M, Marangi G, Weigand H, Borggraefe I, Haack T, Stark Z, Sadedin S; Broad Center for Mendelian Genomics; Tan TY, Jiang Y, Gibbs RA, Ellingwood S, Amaral M, Kelley W, Kurian MA, Cousin MA, Raymond FL.
Baker K, et al.
Brain. 2018 Sep 1;141(9):2576-2591. doi: 10.1093/brain/awy209.
Brain. 2018.
PMID: 30107533
Free PMC article.
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Cerebral hypomyelination associated with biallelic variants of FIG4.
Lenk GM, Berry IR, Stutterd CA, Blyth M, Green L, Vadlamani G, Warren D, Craven I, Fanjul-Fernandez M, Rodriguez-Casero V, Lockhart PJ, Vanderver A, Simons C, Gibb S, Sadedin S; Broad Center for Mendelian Genomics; White SM, Christodoulou J, Skibina O, Ruddle J, Tan TY, Leventer RJ, Livingston JH, Meisler MH.
Lenk GM, et al.
Hum Mutat. 2019 May;40(5):619-630. doi: 10.1002/humu.23720. Epub 2019 Feb 28.
Hum Mutat. 2019.
PMID: 30740813
Free PMC article.
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High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.
Hiz Kurul S, Oktay Y, Töpf A, Szabó NZ, Güngör S, Yaramis A, Sonmezler E, Matalonga L, Yis U, Schon K, Paramonov I, Kalafatcilar İP, Gao F, Rieger A, Arslan N, Yilmaz E, Ekinci B, Edem PP, Aslan M, Özgör B, Lochmüller A, Nair A, O'Heir E, Lovgren AK; Broad Center for Mendelian Genomics; Maroofian R, Houlden H, Polavarapu K, Roos A, Müller JS, Hathazi D, Chinnery PF, Laurie S, Beltran S, Lochmüller H, Horvath R.
Hiz Kurul S, et al.
Brain. 2022 May 24;145(4):1507-1518. doi: 10.1093/brain/awab395.
Brain. 2022.
PMID: 34791078
Free PMC article.
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De novo mutations in HNRNPU result in a neurodevelopmental syndrome.
Yates TM, Vasudevan PC, Chandler KE, Donnelly DE, Stark Z, Sadedin S, Willoughby J; Broad Center for Mendelian Genomics; DDD study; Balasubramanian M.
Yates TM, et al.
Am J Med Genet A. 2017 Nov;173(11):3003-3012. doi: 10.1002/ajmg.a.38492. Epub 2017 Sep 25.
Am J Med Genet A. 2017.
PMID: 28944577
Free PMC article.
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