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Team Publications

Selected publications

2023

Lauretta, M.L., Jarmolowicz, A., Amor, D.J., Best, S., Morgan, A.T. (2023) 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. https://doi.org/10.1044/2023_JSLHR-22-00714

Morison, L. D., van Reyk, O., Forbes, E., Rouxel, F., Faivre, R.,Bruinsma F., Vincent, M. Jacquemonth, ML, Dykzeul, N.L., Genevieve, D., Amor, D.J, Morgan, A.T. (2023). CDK13-related disorders: a deep characterization of speech and language abilities and addition of 33 novel cases. European Journal of Human Genetics.

St John, M., Tripathi, T., Morgan, A.T., Amor, D.J. (2023). To speak may draw on epigenetic writing and reading: Unravelling the complexity of speech and language outcomes across chromatin-related neurodevelopmental disorders. Neuroscience & Biobehavioural Reviews. Vol 152, September. https://www.sciencedirect.com/science/article/abs/pii/S0149763423002622?via%3Dihub

Morgan, A.T., Scerri, T.S., Vogel, A.P., Reid, C.A., Quach, M., Jackson, V.E., McKenzie, C., M., 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. (2023). Stuttering associated with a pathogenic variant in the chaperone protein. Cyclophillin-40. Brain. Accepted for publication 11 August 2023.

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. (2023). JAMA Otolaryngol Head Nack Surg. 149(3):204-211. doi:10.1001/jamaoto.2022.446

Morgan, A., Fisher, S.E., Scheffer, I., Hildebrand, M. (2023). FOXP2-related speech and language disorder. Gene Reviews.

Koolen, D.A., Morgan, A., de Vries, B.B.A. (2023). Koolen-de Vries Syndrome. Gene Reviews.

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. (2023). 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. 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. (2023) DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/ KAT6B variants. Epigenomics. Mar;15(6):351-367.doi: 10.2217/epi-2023-0079. Epub 2023 May 30.

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.