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John, MS, Reyk, OV, Koolen, D, de Vries, B, Amor, D, Morgan, A.
Expanding the speech and language phenotype in Koolen-de Vries syndrome: late onset and periodic stuttering a novel feature.
2022
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Wall, M, Francis, D, Scheffer, I, Tan, T, Murali, K, Gallacher, L, Amor, D, Goel, H, Downie, L, Stutterd, C, et al.
Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability.
2022
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Morgan, A, Morison, L, Reyk, OV, Forbes, E, Rouxel, F, Faivre, L, Bruinsma, F, Vincent, M, Jacquemont, M-L, Dykzeul, N, et al.
CDK13-related disorder: a deep characterization of speech and language abilities and addition of 33 novel cases.
2022
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Braden, RO, Amor, DJ, Fisher, SE, Mei, C, Myers, CT, Mefford, H, Gill, D, Srivastava, S, Swanson, LC, Goel, H, et al.
Severe speech impairment is a distinguishing feature of FOXP1-related disorder..
Dev Med Child Neurol
63(12)
:
1417 -1426
2021
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Tutty, E, Amor, DJ, Jarmolowicz, A, Paton, K, Downie, L.
Personal utility of genomic sequencing for infants with congenital deafness..
Am J Med Genet A
185(12)
:
3634 -3643
2021
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