Team Publications

Selected publications


Morgan, A.T., Coleman, B., Vogel, A.P., McNeill, A., Robinson, P.N. (2024). Speech and language classification in the human phenotype ontology. European Journal of Human Genetics. Online ahead of print.

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. (2024). Speech and language in DDX3X-neurodevelopmental disorder: A call for early augmentative and alternative communication intervention. Am J Med Genet B Neuropsychiatr Genet., Feb 29:e32971.

Morison, L.D., Van Reyk, O., Baker, E., Ruaud, L., Couque, N., Verloes, A., Amor, D.J., Morgan, A.T. (2024). Beyond 'speech delay': Expanding the phenotype of BRPF1-related disorder. Eur J Med Genet., Apr;68:104923.

Morgan, A.T., Amor, D.J., St John, M., Scheffer, I.E., Hildebrand, M.S. (2024). The genetic architecture of childhood speech disorder: a review. Molecular Psychiatry. 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. (2024). Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals. J Med Genet.

Men, Y., Best, S., Amor, D.J., Braden, R., Morgan, A.T., Goranitis, I. (2024). The value of genomic testing in severe childhood speech disorders. Eur J Hum Genet. Online ahead of print. 


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 

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. (2023). Self-reported stuttering severity is accurate: informing methods for large-scale data collection in stuttering. J  Speech Lang Hearing Res., Dec 5: 1-10.

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.

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. (2023). Stuttering associated with a pathogenic variant in the chaperone protein. Cyclophillin-40. Brain.

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.

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.


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

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.

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.


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 Neurology63(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. Neurology96(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 Genetics29(8), 1216-1225.

Morgan, A., Srivastava, S., Duis, J., & van Bon, B. (2021). SETBP1 Haploinsufficiency Disorder. GeneReviews.


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.


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.


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.



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