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Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Stephenson SEM, Costain G, Blok LER, Silk MA, Nguyen TB, Dong X, Alhuzaimi DE, Dowling JJ, Walker S, Amburgey K, Hayeems RZ, Rodan LH, Schwartz MA, Picker J, Lynch SA, Gupta A, Rasmussen KJ, Schimmenti LA, Klee EW, Niu Z, Agre KE, Chilton I, Chung WK, Revah-Politi A, Au PYB, Griffith C, Racobaldo M, Raas-Rothschild A, Ben Zeev B, Barel O, Moutton S, Morice-Picard F, Carmignac V, Cornaton J, Marle N, Devinsky O, Stimach C, Wechsler SB, Hainline BE, Sapp K, Willems M, Bruel AL, Dias KR, Evans CA, Roscioli T, Sachdev R, Temple SEL, Zhu Y, Baker JJ, Scheffer IE, Gardiner FJ, Schneider AL, Muir AM, Mefford HC, Crunk A, Heise EM, Millan F, Monaghan KG, Person R, Rhodes L, Richards S, Wentzensen IM, Cogné B, Isidor B, Nizon M, Vincent M, Besnard T, Piton A, Marcelis C, Kato K, Koyama N, Ogi T, Goh ES, Richmond C, Amor DJ, Boyce JO, Morgan AT, Hildebrand MS, Kaspi A, Bahlo M, Friðriksdóttir R, Katrínardóttir H, Sulem P, Stefánsson K, Björnsson HT, Mandelstam S, Morleo M, Mariani M; TUDP Study Group; Scala M, Accogli A, Torella A, Capra V, Wallis M, Jansen S, Weisfisz Q, de Haan H, Sadedin S; Broad Center for Mendelian Genomics; Lim SC, White SM, Ascher DB, Schenck A, Lockhart PJ, C… See abstract for full author list ➔ Stephenson SEM, et al. Among authors: morgan at. 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.
The phenotype of Floating-Harbor syndrome in 10 patients.
White SM, Morgan A, Da Costa A, Lacombe D, Knight SJ, Houlston R, Whiteford ML, Newbury-Ecob RA, Hurst JA. White SM, et al. Am J Med Genet A. 2010 Apr;152A(4):821-9. doi: 10.1002/ajmg.a.33294. Am J Med Genet A. 2010. PMID: 20358590
GRIN2A: an aptly named gene for speech dysfunction.
Turner SJ, Mayes AK, Verhoeven A, Mandelstam SA, Morgan AT, Scheffer IE. Turner SJ, et al. Among authors: morgan at. Neurology. 2015 Feb 10;84(6):586-93. doi: 10.1212/WNL.0000000000001228. Epub 2015 Jan 16. Neurology. 2015. PMID: 25596506 Free PMC article.
Early neuroimaging markers of FOXP2 intragenic deletion.
Liégeois FJ, Hildebrand MS, Bonthrone A, Turner SJ, Scheffer IE, Bahlo M, Connelly A, Morgan AT. Liégeois FJ, et al. Among authors: morgan at. Sci Rep. 2016 Oct 13;6:35192. doi: 10.1038/srep35192. Sci Rep. 2016. PMID: 27734906 Free PMC article.
Dysarthria and broader motor speech deficits in Dravet syndrome.
Turner SJ, Brown A, Arpone M, Anderson V, Morgan AT, Scheffer IE. Turner SJ, et al. Among authors: morgan at. Neurology. 2017 Feb 21;88(8):743-749. doi: 10.1212/WNL.0000000000003635. Epub 2017 Feb 1. Neurology. 2017. PMID: 28148630 Free PMC article.
172 results