Tim Morgan

2026

Journal - Research Other

Fukushima, K., Avery, N., Desjardins, J., Halliday, B. J., Jenkins, Z. A., Porteous, R., Morgan, T., Parthasarathy, P., Lau, M., Vincent, M. W., … Robertson, S. P. (2026). Impaired retinoic acid receptor-γ signaling underlies a heritable form of urothelial keratinizing squamous metaplasia. Human Genetics & Genomic Advances, 7(2), 100590. doi: 10.1016/j.xhgg.2026.100590

2025

Journal - Research Article

Weiss, L., Pavez, M., Labudina, A., Andriichuk, L., Jones, O., Jones, A., Barwick, D., Jenkins, Z., Basak, I., Morgan, T., … Hughes, S., … Gimenez, G., … Gumy, L. F., & Robertson, S. P. (2025). A functional role for septin-2 in the maintenance of the axon initial segment and in human cognitive development. Brain. Advance online publication. doi: 10.1093/brain/awaf468

2024

Journal - Research Article

Wade, E. M., Goodin, E. A., Morgan, T., Pereira, S., Woolley, A. G., Jenkins, Z. A., Daniel, P. B., & Robertson, S. P. (2024). The hinge-1 domain of Flna is not necessary for diverse physiological functions in mice. European Journal of Clinical Investigation, 54, e14308. doi: 10.1111/eci.14308

Wade, E. M., Morgan, T., Gimenez, G., Jenkins, Z. A., Titheradge, H., O'Donnell, M., … Robertson, S. P. (2024). Pathogenic FLNA variants affecting the hinge region of filamin A are associated with male survival. American Journal of Medical Genetics Part A, 194A, e63779. doi: 10.1002/ajmg.a.63779

2023

Journal - Research Article

Wade, E. M., Goodin, E. A., Wang, Y., Morgan, T., Callon, K. E., Watson, M., Daniel, P. B., … Robertson, S. P. (2023). FLNA-filaminopathy skeletal phenotypes are not due to an osteoblast autonomous loss-of-function. Bone Reports, 18, 101668. doi: 10.1016/j.bonr.2023.101668

2022

Journal - Research Other

Wade, E. M., Parthasarathy, P., Mi, J., Morgan, T., Wollnik, B., Robertson, S. P., & Cundy, T. (2022). Deletion of the last two exons of FGF10 in a family with LADD syndrome and pulmonary acinar hypoplasia [Brief communication]. European Journal of Human Genetics, 30, 480-484. doi: 10.1038/s41431-021-00902-0

2021

Journal - Research Article

Wade, E. M., Jenkins, Z. A., Morgan, T., Gimenez, G., Gibson, H., Peng, H., … Robertson, S. P. (2021). Exon skip-inducing variants in FLNA in an attenuated form of frontometaphyseal dysplasia. American Journal of Medical Genetics Part A, 185A, 3675-3682. doi: 10.1002/ajmg.a.62424

Journal - Research Other

Fukushima, K., Parthasarathy, P., Wade, E. M., Morgan, T., Gowrishankar, K., Markie, D. M., & Robertson, S. P. (2021). Intragenic deletions in FLNB are part of the mutational spectrum causing spondylocarpotarsal synostosis syndrome. Genes, 12(4), 528. doi: 10.3390/genes12040528

2020

Journal - Research Other

Mi, J., Parthasarathy, P., Halliday, B. J., Morgan, T., Dean, J., Nowaczyk, M. J. M., Markie, D., Robertson, S. P., & Wade, E. M. (2020). Deletion of exon 1 in AMER1 in osteopathia striata with cranial sclerosis. Genes, 11, 1439. doi: 10.3390/genes11121439

Conference Contribution - Published proceedings: Abstract

Mi, J., Parthasarathy, P., Halliday, B. J., Morgan, T., Dean, J., Nowaczyk, M. J. M., Markie, D., Robertson, S. P., & Wade, E. M. (2020). Deletion of the non-coding exon 1 in AMER1 causes osteopathia striata with cranial sclerosis. Proceedings of the Australian and New Zealand Bone and Mineral Society (ANZBMS) 30th Annual Scientific Meeting. 122. Retrieved from https://www.anzbms.org.au/

2018

Journal - Research Article

McKeown, C., Connors, S., Stapleton, R., Morgan, T., Hayes, I., Neas, K., … Markie, D. M., … Robertson, S. P. (2018). A pilot study of exome sequencing in a diverse New Zealand cohort with undiagnosed disorders and cancer. Journal of the Royal Society of New Zealand, 48(4), 262-279. doi: 10.1080/03036758.2018.1464033

Jenkins, Z. A., Macharg, A., Chang, C.-Y., van Kogelenberg, M., Morgan, T., Frentz, S., Wei, W., … Markie, D. M., … Robertson, S. P. (2018). Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies. Human Mutation, 39(1), 103-113. doi: 10.1002/humu.23355

2017

Journal - Research Article

Di Gioia, S. A., Connors, S., Matsunami, N., Cannavino, J., Rose, M. F., Gilette, N. M., … Morgan, T., … Markie, D. M., … Robertson, S. P., … Engle, E. C. (2017). A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome. Nature Communications, 8, 16077. doi: 10.1038/ncomms16077

Bernkopf, M., Hunt, D., Koelling, N., Morgan, T., Collins, A. L., Fairhurst, J., Robertson, S. P., … Goriely, A. (2017). Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counselling in post-zygotic mosaicism cases. Human Mutation, 38(10), 1360-1364. doi: 10.1002/humu.23281

Wade, E. M., Jenkins, Z. A., Daniel, P. B., Morgan, T., Addor, M. C., Adés, L. C., … Robertson, S. P. (2017). Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype. American Journal of Medical Genetics Part A, 173(7), 1739-1749. doi: 10.1002/ajmg.a.38267

Conference Contribution - Published proceedings: Abstract

Wade, E. M., Jenkins, Z. A., Daniel, P. B., McInerney-Leo, A., Leo, P. J., Morgan, T., … Markie, D. M., & Robertson, S. P. (2017). Mutations in MAP3K7 and TAB2 cause a distinct autosomal dominant form of frontometaphyseal dysplasia through a gain-of-function mechanism. Proceedings of the Joint Meeting of the Australian & New Zealand Bone & Mineral Society (ANZBMS) and the International Federation of Musculoskeletal Research Societies IFMRS). 2. Retrieved from http://www.anzbms-ifmrs.org/

2016

Journal - Research Article

Wade, E. M., Daniel, P. B., Jenkins, Z. A., McInerney-Leo, A., Leo, P., Morgan, T., … Markie, D. M., & Robertson, S. P. (2016). Mutations in MAP3K7 that alter the activity of the TAK1 signaling complex cause frontometaphyseal dysplasia. American Journal of Human Genetics, 99(2), 392-406. doi: 10.1016/j.ajhg.2016.05.024

Morton, J. E. V., Frentz, S., Morgan, T., Sutherland-Smith, A. J., & Robertson, S. P. (2016). Biallelic mutations in CYP26B1: A differential diagnosis for Pfeiffer and Antley–Bixler syndromes. American Journal of Medical Genetics Part A, 170(10), 2706-2710. doi: 10.1002/ajmg.a.37804

Conference Contribution - Published proceedings: Abstract

Wade, E. M., Daniel, P. B., Jenkins, Z. A., McInerney-Leo, A., Leo, P., Morgan, T., … Markie, D. M., & Robertson, S. P. (2016). Mutations in MAP3K7 and TAB2 that alter the activity of the TAK1 signalling complex cause frontometaphyseal dysplasia. European Journal of Human Genetics, 24(E-Suppl. 1), (pp. 33). [Abstract]

2015

Journal - Research Article

Bunn, K. J., Daniel, P., Rösken, H. S., O'Neill, A. C., Cameron-Christie, S. R., Morgan, T., … Markie, D. M., & Robertson, S. P. (2015). Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome. American Journal of Human Genetics, 96(4), 623-630. doi: 10.1016/j.ajhg.2015.02.010

van Kogelenberg, M., Clark, A. R., Jenkins, Z., Morgan, T., Anandan, A., Sawyer, G. M., … Robertson, S. P. (2015). Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA. Journal of Molecular Medicine, 93(7), 773-782. doi: 10.1007/s00109-015-1261-7

Journal - Research Other

de Athayde Costa, L. S., Pegler, S. P., Lellis, R. F., Krebs, V. L. J., Robertson, S., Morgan, T., … Kim, C. A. (2015). Menkes disease: Importance of diagnosis with molecular analysis in the neonatal period. Revista da Associaçāo Médica Brasileira, 61(5), 407-410. doi: 10.1590/1806-9282.61.05.407

Bertola, D., Passos-Bueno, M. R., Pereira, A., Kim, C., Morgan, T., & Robertson, S. P. (2015). Recurrence of frontometaphyseal dysplasia in two sisters with a mutation in FLNA and an atypical paternal phenotype: Insights into genotype—phenotype correlation. American Journal of Medical Genetics Part A, 167(5), 1161-1164. doi: 10.1002/ajmg.a.36981

2014

Journal - Research Article

Gray, M. J., van Kogelenberg, M., Beddow, R., Morgan, T., Wordsworth, P., Shears, D. J., Robertson, S. P., & Hurst, J. A. (2014). A new acro-osteolysis syndrome caused by duplications including PTHLH. Journal of Human Genetics, 59, 484-487. doi: 10.1038/jhg.2014.58

2013

Journal - Research Article

Cappello, S., Gray, M. J., Badouel, C., Lange, S., Einsiedler, M., Srour, M., … Jenkins, Z. A., Morgan, T., Preitner, N., … Black, M. A., Markie, D., … Robertson, S. P. (2013). Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development. Nature Genetics, 45(11), 1300-1308. doi: 10.1038/ng.2765

Reinstein, E., Frentz, S., Morgan, T., García-Miñaúr, S., Leventer, R. J., McGillivray, G., … Robertson, S. P. (2013). Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A. European Journal of Human Genetics, 21(5), 494-502. doi: 10.1038/ejhg.2012.209

Holman, S. K., Morgan, T., Baujat, G., Cormier-Daire, V., Cho, T.-J., Lees, M., … Robertson, S. P. (2013). Osteopathia striata congenita with cranial sclerosis and intellectual disability due to contiguous gene deletions involving the WTX locus. Clinical Genetics, 83(3), 251-256. doi: 10.1111/j.1399-0004.2012.01905.x

Conference Contribution - Published proceedings: Abstract

Frentz, S., van Kogelenberg, M., Jenkins, Z., Morgan, T., & Robertson, S. (2013). Defining the genetic basis for a spectrum of rare neurological conditions. New Zealand Medical Journal, 126(1374). Retrieved from http://www.nzma.org.nz/journal

2012

Journal - Research Article

Tsutsumi, S., Maekawa, A., Obata, M., Morgan, T., Robertson, S. P., & Kurachi, H. (2012). A case of boomerang dysplasia with a novel causative mutation in filamin B: Identification of typical imaging: Findings on ultrasonography and 3D-CT imaging. Fetal Diagnosis & Therapy, 32, 216-220. doi: 10.1159/000335687

Daniel, P. B., Morgan, T., Alanay, Y., Bijlsma, E., Cho, T.-J., Cole, T., … Robertson, S. P. (2012). Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity. Human Mutation, 33(4), 665-673. doi: 10.1002/humu.22012

2011

Journal - Research Article

Laue, K., Pogoda, H.-M., Daniel, P. B., van Haeringen, A., Alanay, Y., von Ameln, S., … Morgan, T., Gray, M. J., … Robertson, S. P. (2011). Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid. American Journal of Human Genetics, 89(5), 595-606. doi: 10.1016/j.ajhg.2011.09.015

Holman, S. K., Daniel, P., Jenkins, Z. A., Herron, R. L., Morgan, T., Savarirayan, R., … Robertson, S. P. (2011). The male phenotype in osteopathia striata congenita with cranial sclerosis. American Journal of Medical Genetics Part A, 155(10), 2397-2408. doi: 10.1002/ajmg.a.34178

Skidmore, D. L., Chitayat, D., Morgan, T., Hinek, A., Fischer, B., Dimopoulou, A., … Robertson, S. P. (2011). Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS). American Journal of Medical Genetics Part A, 155(8), 1848-1856. doi: 10.1002/ajmg.a.34057

2010

Journal - Research Article

Kapur, R. P., Robertson, S. P., Hannibal, M. C., Finn, L. S., Morgan, T., van Kogelenberg, M., & Loren, D. J. (2010). Diffuse abnormal layering of small intestinal smooth muscle is present in patients with FLNA mutations and X-linked intestinal pseudo-obstruction. American Journal of Surgical Pathology, 34(10), 1528-1543. doi: 10.1097/PAS.0b013e3181f0ae47

2009

Journal - Research Article

Jenkins, Z. A., van Kogelenberg, M., Morgan, T., Jeffs, A., Fukuzawa, R., Pearl, E., … Robertson, S. P. (2009). Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis. Nature Genetics, 41(1), 95-100. doi: 10.1038/ng.270

Conference Contribution - Published proceedings: Abstract

van Kogelenberg, M., Jenkins, Z. A., Morgan, T., Holman, S., Jeffs, A., Fukuzawa, R., … Reeve, A. E., Robertson, S. P., the OSCS Study Group. (2009). Germline mutations in the tumour suppressor WTX cause a sclerosing bone dysplasia but do not predispose to Wilms tumour. Proceedings of the American Society of Human Genetics 59th Annual Meeting. (pp. 734). Retrieved from http://www.ashg.org/2009meeting/pdf/poster_4up.pdf

2008

Journal - Research Article

van Roij, M. H. H., Mizumoto, S., Yamada, S., Morgan, T., Tan-Sindhunata, M. B., Meijers-Heijboer, H., … Markie, D., … Robertson, S. P. (2008). Spondyloepiphyseal dysplasia, Omani type: Further definition of the phenotype. American Journal of Medical Genetics Part A, 146A(18), 2376-2384. doi: 10.1002/ajmg.a.32482

2006

Journal - Research Article

Robertson, S. P., Jenkins, Z. A., Morgan, T., Adès, L., Aftimos, S., Boute, O., … Krakow, D. (2006). Frontometaphyseal Dysplasia: Mutations in FLNA and phenotypic diversity. American Journal of Medical Genetics Part A, 140A, 1726-1736. doi: 10.1002/ajmg.a.31322

Robertson, S. P., Thompson, S., Morgan, T., Holder-Espinasse, M., Martinot-Duquenoy, V., Wilkie, A. O. M., & Manouvrier-Hanu, S. (2006). Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders. European Journal of Human Genetics, 14, 549-554.

2005

Journal - Research Article

Bicknell, L. S., Morgan, T., Bonafé, L., Wessels, M. W., Bialer, M. G., Willems, P. J., … Robertson, S. P. (2005). Mutations in FLNB cause boomerang dysplasia. Journal of Medical Genetics, 42(7), e43. doi: 10.1136/jmg.2004.029967

Sheen, V. L., Jansen, A., Chen, M. H., Parrini, E., Morgan, T., . . ., Robertson, S., & et al (2005). Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. Neurology, 64, 254-262.

2004

Journal - Research Article

Krakow, D., Robertson, S. P., King, L. M., Morgan, T., & et al (2004). Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nature Genetics, 36(4), 405-410.

1998

Journal - Research Article

Morgan, T. R., Shand, J. A., Clarke, S. M., & Eaton-Rye, J. J. (1998). Specific requirements for cytochrome c-550 and the manganese-stabilizing protein in photoautotrophic strains of Synechocystis sp. PCC 6803 with mutations in the domain Gly-351 to Thr-436 of the chlorophyll-binding protein CP47. Biochemistry, 37(41), 14437-14449.