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Wong, MM, Kampen, RA, Braden, RO, Alagöz, G, Hildebrand, MS, Barnett, C, Barnett, M, Brusco, A, Carli, D, de Vries, BB, et al. SETBP1 variants outside the degron disrupt DNA-binding and transcription independent of protein abundance to cause a heterogeneous neurodevelopmental disorder.
2022
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Morison, LD, Braden, RO, Amor, DJ, Brignell, A, van Bon, BWM, Morgan, AT. Social motivation a relative strength in DYRK1A syndrome on a background of significant speech and language impairments.
European Journal of Human Genetics
30(7)
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800 -811
2022
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Stephenson, SEM, Costain, G, Blok, LER, Silk, MA, Nguyen, TB, Dong, X, Alhuzaimi, DE, Dowling, JJ, Walker, S, Amburgey, K, et al. Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
American Journal of Human Genetics
109(4)
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601 -617
2022
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Mountford, HS, Braden, R, Newbury, DF, Morgan, AT. The Genetic and Molecular Basis of Developmental Language Disorder: A Review.
Children
9(5)
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586
2022
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Kaspi, A, Hildebrand, MS, Jackson, VE, Braden, R, van Reyk, O, Howell, T, Debono, S, Lauretta, M, Morison, L, Coleman, M, et al. Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development.
2022
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