Team Publications
Selected publications
2024
Hildebrand MS, Braden RO, Lauretta ML, Kaspi A, Leventer RJ, Anderson M, Goel H, Bahlo M, Scheffer IE, Amor DJ, Janowski R, Niessing D, Morgan AT. Inherited PURA Pathogenic Variant Associated With a Mild Neurodevelopmental Disorder. Neurol Genet. 2024 Aug 6;10(5):e200181. https://doi.org/10.1212/NXG.000000000020018
Morgan AT, Coleman B, Vogel AP, McNeill A, Robinson PN. Speech and language classification in the human phenotype ontology. Eur J Hum Genet. 2024 Jul 1. Online ahead of print. https://www.nature.com/articles/s41431-024-01635-6
Forbes, EJ, Morison LD, Lelik F, Howell T, Debono S, Goel H, Burger P, Mandel JL, Geneviève D, Amor DJ, Morgan AT. Speech and language in DDX3X-neurodevelopmental disorder: A call for early augmentative and alternative communication intervention. Am J Med Genet B Neuropsychiatr Genet. 2024 Sep;195(6):e32971. https://doi.org/10.1002/ajmg.b.32971
Morgan AT, Amor DJ, St John M, Scheffer IE, Hildebrand MS. The genetic architecture of childhood speech disorder: a review. Mol Psychiatry. 2024 May;29(5):1281-1292. 10.1038/s41380-024-02409-8
Morison LD, Van Reyk O, Baker E, Ruaud L, Couque N, Verloes A, Amor DJ, Morgan AT. Beyond 'speech delay': Expanding the phenotype of BRPF1-related disorder. Eur J Med Genet. 2024 Apr;68:104923. https://doi.org/10.1016/j.ejmg.2024.104923
Morison LD, Kennis MGP, Rots D, Bouman A, Kummeling J, Palmer E, Vogel AP, Liegeois F, Brignell A, Srivastava S, Frazier Z, Milnes D, Goel H, Amor DJ, Scheffer IE, Kleefstra T, Morgan AT. Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals. J Med Genet. 2024 May 21;61(6):578-585. https://jmg.bmj.com/content/early/2024/01/30/jmg-2023-109702
Meng Y, Best S, Amor DJ, Braden R, Morgan AT, Goranitis I. The value of genomic testing in severe childhood speech disorders. Eur J Hum Genet. 2024 Apr;32(4):440-447. https://www.nature.com/articles/s41431-024-01534-w
Horton S, Jackson V, Boyce J, Franken M-C, Siemers S, St John M, Hearps S, van Reyk S, Braden R, Parker R, Vogel AP, Eising E, Amor DJ, Irvine J, Fisher SE, Martin NG, Reilly S, Bahlo M, Scheffer I, Morgan A. Self-reported stuttering severity is accurate: informing methods for large-scale data collection in stuttering. J Speech Lang Hearing Res. 2024 Oct 24;67(10S):4015-4024. doi.org/10.1044/2023_JSLHR-23-00081
2023
Lauretta ML, Jarmolowicz A, Amor DJ, Best S, Morgan AT. An Investigation of Barriers and Enablers for Genetics in Speech-Language Pathology Explored Through a Case Study of Childhood Apraxia of Speech. J Speech Lang Hearing Res. 2023 Sept.; 67(9S):3437-3451. https://doi.org/10.1044/2023_JSLHR-22-00714
St John M, Tripathi T, Morgan AT, Amor DJ. To speak may draw on epigenetic writing and reading: Unravelling the complexity of speech and language outcomes across chromatin-related neurodevelopmental disorders. Neurosci Biobehav Rev. 2023 Sep:152:105293. https://doi.org/10.1016/j.neubiorev.2023.105293
Morison LD, van Reyk O, Forbes E, Rouxel F, Faivre R, Bruinsma F, Vincent M, Jacquemonth ML, Dykzeul NL, Geneviève D, Amor DJ, Morgan AT. CDK13-related disorders: a deep characterization of speech and language abilities and addition of 33 novel cases. Eur J Hum Genet. 2023 Jul;31(7):793-804.
https://www.nature.com/articles/s41431-022-01275-8
Morgan AT, Scerri TS, Vogel AP, Reid CA, Quach M, Jackson VE, McKenzie C, Burrows EL, Bennett MF, Turner SJ, Reilly S, Horton SE, Block S, Kefalianos E, Frigerio-Domingues C, Sainz E, Rigbye KA, Featherby TJ, Richards KL, Keuh A, Herold MJ, Corbett MA, Gecz J, Helbig I, Thompson-Lake DGY, Liegeois FJ, Morrell RJ, Hung A, Drayna D, Scheffer IE, Wright DK, Bahlo M, Hildebrand MS. Stuttering associated with a pathogenic variant in the chaperone protein. Cyclophillin-40. Brain. 2023 Dec 1;146(12):5086-5097. https://doi.org/10.1093/brain/awad314
Morgan A, Fisher SE, Scheffer I, Hildebrand M. FOXP2-related speech and language disorder. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993. 2016 Jun 23 [updated 2023 Jan 26]. https://pubmed.ncbi.nlm.nih.gov/27336128/
Koolen DA, Morgan A, de Vries BBA. Koolen-de Vries Syndrome.In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993. 2010 Jan 26 [updated 2023 Feb 2]. https://pubmed.ncbi.nlm.nih.gov/20301783/
Colin F, Burger P, Mazzucotelli T, Strehle A, Kummeling J, Collot N, Broly E, Morgan AT, Myers KE, Bloch-Zupan A, Ockeloen CW, de Vries BBA, Kleefstra T, Parrend P, Koolen DA, Mandel J-L. GenIDA, a participatory patient registry for genetic forms of intellectual disability provides detailed caregiver reported information on 237 individuals with Koolen-de Vries syndrome. Genetics in Medicine Open. 2023;1(1):1008172023.
https://doi.org/10.1016/j.gimo.2023.100817
Vos N, Reilly J, Elting MW, Campeau PH, Coman D, Stark Z, Tan TY, Amor DJ, Kaur S, St John M, Morgan AT, et al. DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/ KAT6B variants. Epigenomics. 2023 Mar;15(6):351-367. https://doi.org/10.2217/epi-2023-0079
2022
Boyce, J. O., Jackson, V. E., van Reyk, O., Parker, R., Vogel, A. P., Eising, E., Horton, S. E., Gllespie, N, A., Scheffer, I. E., Amor, D. J., Hildebrand, M. S., Fisher, S. E., Martin, N. G., Reilly, S., & Morgan, A. T. (2022). Self‐reported impact of developmental stuttering across the lifespan. Developmental Medicine & Child Neurology.
Mountford, H. S., Braden, R., Newbury, D. F., & Morgan, A. T. (2022). The Genetic and Molecular Basis of Developmental Language Disorder: A Review. Children, 9(5), 586.
Kaspi, A., Hildebrand, M. S., Jackson, V. E., Braden, R., Van Reyk, O., Howell, T., ... & Morgan, A. T. (2022). Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development. Molecular Psychiatry, 1-17.
Morison, L. D., Braden, R. O., Amor, D. J., Brignell, A., van Bon, B. W., & Morgan, A. T. (2022). Social motivation a relative strength in DYRK1A syndrome on a background of significant speech and language impairments. European Journal of Human Genetics, 1-12.
St John, M., van Reyk, O., Koolen, D.A., de Vries, B.B.A., Amor, D.J., Morgan, A.T. (2022). Expanding the speech and language phenotype in Koolen-de Vries syndrome: late onset and periodic stuttering a novel feature. Eur J Hum Genet. https://pubmed.ncbi.nlm.nih.gov/36529818/
St John, M., Amor, D. J., & Morgan, A. T. (2022). Speech and language development and genotype–phenotype correlation in 49 individuals with KAT6A syndrome. American Journal of Medical Genetics Part A. https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.62899
Thompson-Lake, D. G., Scerri, T. S., Block, S., Turner, S. J., Reilly, S., Kefalianos, E., Bonthrone, A.F., Helbig, I., Bahlo, M., Scheffer, I.E. and Hildebrand, M.S., Liégeois, F. J., & Morgan, A. T. (2022). Atypical development of Broca’s area in a large family with inherited stuttering. Brain.
2021
Braden, R. O., Amor, D. J., Fisher, S. E., Mei, C., Myers, C. T., Mefford, H., Gill, D., Srivastava, S., Swanson, L. C., Goel, H., Scheffer, I. E., & Morgan, A. T. (2021). Severe speech impairment is a distinguishing feature of FOXP1‐related disorder. Developmental Medicine & Child Neurology, 63(12), 1417-1426.
Braden, R. O., Boyce, J. O., Stutterd, C. A., Pope, K., Goel, H., Leventer, R. J., Scheffer, I. E., & Morgan, A. T. (2021). Speech, Language, and Oromotor Skills in Patients With Polymicrogyria. Neurology, 96(14), e1898-e1912.
Morgan, A., Braden, R., Wong, M. M., Colin, E., Amor, D., Liégeois, F., Srivastava, S., Vogel, A., Bizaoui, V., Ranquin, K., Fisher, S., & Van Bon, B. W. (2021). Speech and language deficits are central to SETBP1 haploinsufficiency disorder. European Journal of Human Genetics, 29(8), 1216-1225.
Morgan, A., Srivastava, S., Duis, J., & van Bon, B. (2021). SETBP1 Haploinsufficiency Disorder. GeneReviews.
2020
Hildebrand, M.S., Jackson, V.E., Scerri, T.S., Van Reyk, O., Coleman, M., Braden, R.O., Turner, S., Rigbye, K.A., Boys, A., Barton, S., Webster, R., Fahey, M., Saunders, K., Parry-Fielder, B., Paxton, G., Hayman, M., Coman, D., Goel, H., Baxter, A., Ma, A., Davis, N., Reilly, S., Delatycki, M., Liégeois, F.J., Connelly, A., Gecz, J., Fisher, S.E., Amor, D.J., Scheffer, I.E., Bahlo, M., Morgan, A.T. (2020). Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation. Neurology.
2019
Johnson, J.L., Stoica, L., Liu,Y., Zhu, P.J., Bhattacharya, A., Buffington, S.A., Huq, R., Eissa, N.T., Larsson, O., Porse, B.T., Domingo, D., Nawaz, U., Carroll, R., Jolly, L., Scerri, T.S., Kim, H.G., Brignell, A., Coleman, M.J., Braden, R., Kini, U., Jackson, V., Baxter, A., Bahlo, M., Scheffer, I.E., Amor, D.J., Hildebrand, M., Bonnen, P.E., Beeton, C., Gecz, J., Morgan, A.T., & Costa-Mattioli, M. (2019). Inhibition of Upf2-dependent nonsense-mediated decay leads to behavioral and neurophysiological abnormalities by activating the immune response. Neuron.
Eising, E., Carrion-Castillo, A., Vino, A., Strand, E.A., Jakielski, K.J., Scerri, T.S., Hildebrand, M.S., Webster, R., Ma, A., Mazoyer, B., Frankcs, C., Bahlo, M., Scheffer, I.E., Morgan, A.T., Shriberg, L.D., & Fisher, S.E. (2019). A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development. Molecular Psychiatry, 24, 1065-1078.
Koolen, D.A., Morgan, A.T., & de Vries, B.B.A. (2019). Koolen-de Vries Syndrome. GeneReviews.
Khan, K., Zech, M., Morgan, A.T., Amor, D.J., Skorvanek, M., Khan, T.N., Hildebrand, M.S., Jackson, V.E., Scerri, T.S., Coleman, M., Rigbye, K.A., Scheffer, I.E., Bahlo, M., Wagner, M., Lam, D.D., Berutti, R., Havránková, P., Fečíková, A., Strom, T.M., Han, V., Dosekova, P., Gdovinova, Z., Laccone, F., Jameel, M., Mooney, M.R., Baig, S.M., Jech, R., Davis, E.E., Katsanis, N., & Winkelmann, J. (2019). Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia. Genetics in Medicine.
Braden, R., Leventer, R., Jansen, A., Scheffer, I.E., & Morgan, A.T. (2019). Speech and language in bilateral perisylvian polymicrogyria, a systematic review. Developmental Medicine and Child Neurology, 61(10), 1145-1152.
Liegeois, F., Turner, S.J., Mayes, A., Bonthrone, A., Boys, A., Parry-Fielder, B., Mandelstam, S., Spencer-Smith, M., Connelly, A., & Morgan, A.T. (2019). Dorsal language stream anomalies in an inherited speech disorder. Brain, 142, 966-977.
2018
Morgan, A.T., van Haaften, L., van Hulst, K., Edley, C., Mei, C., Tan, T., Amor, D., Fisher, S., & Koolen, D.A. (2018). Early speech development in Koolen de Vries Syndrome limited by oral praxis and hypotonia. European Journal of Human Genetics, 26, 75-84.
Mei, C., Fedorenko, E., Amor, D., Boys, A., Hoeflin, C., Carew, P., Burgess, T., Fisher, S., & Morgan, A.T. (2018). Deep phenotyping of speech and language skills in individuals with 16p11.2 deletion. European Journal of Human Genetics, 26, 676-686.
Morgan, A.T., & Webster, R. (2018). Aetiology of childhood apraxia of speech: A clinical practice update for paediatricians. Journal of Paediatrics and Child Health, 54(10), 1090-1095.
Brignell, A., St John, M., Bruce, A., Dinale, C., Pigdon, L., Hildebrand, M., Amor, D., & Morgan, A.T. (2018). Characterization of speech and language phenotype in children with NRXN1 deletions. American Journal of Medical Genetics Part B, 177, 700-708.
Morgan, A.T., Murray, E., & Liegeois, F. (2018). Interventions for childhood apraxia of speech. Cochrane Database of Systematic Reviews. doi: 10.1002/14651858.CD006278.pub3.
Morgan, A.T., Su, M., Reilly, S., Conti-Ramsden, G., Connelly, A., & Liegeois, F. (2018). A brain marker for developmental speech disorder. Journal of Pediatrics, 198, 234-239.
