Team Publications

Selected publications

2024

Forbes, E.J., Morison, L.D., Lelik, F., Howell, T., Debono, S., Goel, H., Burger, P., Mandel, J.L., Geneviève, D., Amor, D.J., Morgan, A.T. Speech and language in DDX3X-neurodevelopmental disorder: A call for early augmentative and alternative communication intervention. Am J Med Genet B Neuropsychiatr Genet. 2024 Feb 29:e32971. https://doi.org/10.1002/ajmg.b.32971. 

Morison, L.D., Van Reyk, O., Baker, E., Ruaud, L., Couque, N., Verloes, A., Amor, D.J., Morgan, A.T. Beyond 'speech delay': Expanding the phenotype of BRPF1-related disorder. Eur J Med Genet. 2024 Apr;68:104923. https://www.sciencedirect.com/science/article/pii/S1769721224000156?via%3Dihub

Morgan, A.T., Amor, D.J., St John, M., Scheffer, I.E., Hildebrand, M.S. The genetic architecture of childhood speech disorder: a review. Molecular Psychiatry. 2024 May;29(5):1281-1292. 10.1038/s41380-024-02409-8

Morison, L.D., Kennis M.G.P., Rots, D., Bouman, A., Kummeling, J., Palmer, E., Vogel, A.P., Liegeois, F., Brignell, A., Srivastava, S., Frazier, Z., Milnes, D., Goel, H., Amor, D.J., Scheffer, I.E., Kleefstra, T., Morgan, A.T. 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, D.J., Braden, R., Morgan, A.T., 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 

2023

Lauretta, M.L., Jarmolowicz, A., Amor, D.J., Best, S., Morgan, A.T. An Investigation of Barriers and Enablers for Genetics in Speech-Language Pathology Explored Through a Case Study of Childhood Apraxia of Speech. Journal of Speech, Language, and Hearing Research. 2023 Sept.; 67(9S):3437-3451 https://doi.org/10.1044/2023_JSLHR-22-00714 Volume 67

Horton, S., Jackson, V., Boyce, J., Franken, M-C, Siemers, S., St John, M., Hearps, S., van Reyk, S., Braden, R., Parker, R., Vogel, A.P., Eising, E., Amor, D.J., Irvine, J., Fisher, S.E., Martin, N.G., 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. 2023 Dec 5;1-10. doi.org/10.1044/2023_JSLHR-23-00081.

Morgan, A.T., Scerri, T.S., Vogel, A.P., Reid, C.A., Quach, M., Jackson, V.E., McKenzie, C., Burrows, E.L., Bennett, M.F., Turner, S.J., Reilly, S., Horton, S.E., Block, S., Kefalianos, E., Frigerio-Domingues, C., Sainz, E., Rigbye, K.A., Featherby, T.J., Richards, K.L., Keuh, A., Herold, M.J., Corbett, M.A.,Gecz, J., Helbig, I., Thompson-Lake, D.G.Y., Liegeois, F.J., Morrell, R.J., Hung, A., Drayna, D., Scheffer, I.E, Wright, D.K., Bahlo, M., Hildebrand, M.S. 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

Wang, J., Lange, K., Sung, V., Morgan, A., Saffery, R., Wake, M. Association of Polygenic Risk Scores for Hearing Difficulty in Older Adults With Hearing Loss in Mid-Childhood and Midlife: A Population-Based Cross-sectional Study Within the Longitudinal Study of Australian Children. JAMA Otolaryngol Head Neck Surg. 2023 Mar 1;149(3):204-211. doi:10.1001/jamaoto.2022.4466.

Morgan, A., Fisher, S.E., 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, D.A., Morgan, A., de Vries, B.B.A. (2023). 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., Nicole Collot, N., Broly, E., Morgan, A.T., Myers, K.E., Bloch-Zupan, A.,  Ockeloen, de Vries, B.B.A., Kleefstra, T.,  Parrend, P., Koolen, D.A., 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 May: published online. https://doi.org/10.1016/j.gimo.2023.100817.

Vos, N., Reilly, J., Elting, M.W., Campeau, P.H., Coman, D., Stark, Z., Tan, T.Y., Amor, D.J., Kaur, S., St John, M., Morgan, A.T. 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.doi: 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.