Clinical Associate Professor Meredith Wilson

Clinical Associate Professor
Genetic Medicine, Children's Hospital, Westmead

C29 - Children's Hospital Westmead
The University of Sydney
NSW 2006 Australia

T: 02 9845 3273
F: 02 9845 3204


2014 | 2013 | 2012 | 2011 | 2010 | 2009 | 2008


  • Smithers-Sheedy, H., Badawi, N., Blair, E., Cans, C., Himmelmann, K., Krageloh-Mann, I., McIntyre, S., Slee, J., Uldall, P., Watson, L., Wilson, M. (2014), What constitutes cerebral palsy in the twenty-first century?. Developmental Medicine and Child Neurology. 56(4), 323-328. [Abstract]
  • Grozeva, D., Carss, K., Spasic-Boskovic, O., Parker, M., Archer, H., Firth, H., Park, S., Canham, N., Holder, S., Wilson, M., Hackett, A., Field, M., Floyd, J., Hurles, M., Raymond, F. (2014), De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability. American Journal of Human Genetics. 94(4), 618-624. [Abstract]
  • Hanson, H., Wilson, M., Short, J., Chioza, B., Crosby, A., Nash, R., Marks, K., Mansour, S. (2014), Germline CBL mutation associated with a noonan-like syndrome with primary lymphedema and teratoma associated with acquired uniparental isodisomy of chromosome 11q23. American Journal of Medical Genetics. Part A. 164A(4), 1003-1009. [Abstract]
  • Helsmoortel, C., Vulto-van Silfhout, A., Coe, B., Vandeweyer, G., Rooms, L., van den Ende, J., Schuurs-Hoeijmakers, J., Marcelis, C., Willemsen, M., Vissers, L., Yntema, H., Bakshi, M., Wilson, M., Witherspoon, K., Malmgren, H., Nordgren, A., Anneren, G., Fichera, M., Bosco, P., Romano, C., de Vries, B., Kleefstra, T., Kooy, R., Eichler, E., Van der Aa, N. (2014), A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. Nature Genetics. 46(4), 380-384. [Abstract]
  • Utami, K., Hillmer, A., Aksoy, I., Chew, E., Teo, A., Zhang, Z., Lee, C., Chen, P., Seng, C., Ariyaratne, P., Rouam, S., Soo, L., Yousoof, S., Prokudin, I., Peters, G., Collins, F., Wilson, M., Kakakios, A., Haddad, G., Menuet, A., Perche, O., Tay, S., Sung, K., Ruan, X., Ruan, Y., Liu, E., Briault, S., Jamieson, R., Davila, S., Cacheux, V. (2014), Detection of chromosomal breakpoints in patients with developmental delay and speech disorders. PloS One. 9(3), e90852. [Abstract]


  • Elmaleh-Bergès, M., Baumann, C., Noël-Pétroff, N., Sekkal, A., Couloigner, V., Devriendt, K., Wilson, M., Marlin, S., Sebag, G., Pingault, V. (2013), Spectrum of Temporal Bone Abnormalities in Patients with Waardenburg Syndrome and SOX10 Mutations. American Journal of Neuroradiology. 34(6), 1257-1263. [Abstract]
  • Roscioli, T., Elakis, G., Cox, T., Moon, D., Venselaar, H., Turner, A., Le, T., Hackett, E., Haan, E., Colley, A., Mowat, D., Worgan, L., Kirk, E., Sachdev, R., Thompson, E., Gabbett, M., McGaughran, J., Gibson, K., Gattas, M., Freckmann, M., Dixon, J., Hoefsloot, L., Field, M., Hackett, A., Kamien, B., Edwards, M., Ades, L., Collins, F., Wilson, M., Savarirayan, R., Tan, T., Amor, D., McGillivray, G., White, S., Glass, I., David, D., Anderson, P., Gianoutsos, M., Buckley, M. (2013), Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 163(4), 259-570. [Abstract]
  • Fehr, S., Wilson, M., Downs, J., Williams, S., Murgia, A., Sartori, S., Vecchi, M., Ho, G., Polli, R., Psoni, S., Bao, X., de Klerk, N., Leonard, H., Christodoulou, J. (2013), The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy. European Journal of Human Genetics. 21(3), 266-273. [Abstract]
  • Venkatesan, A., Tunkel, A., Bloch, K., Lauring, A., Sejvar, J., Bitnun, A., Stahl, J., Mailles, A., Drebot, M., Rupprecht, C., Yoder, J., Cope, J., Wilson, M., Whitley, R., Sullivan, J., Granerod, J., Jones, C., Eastwood, K., Ward, K., Durrheim, D., Solbrig, M., Guo-Dong, L., Glaser, C. (2013), Case Definitions, Diagnostic Algorithms, and Priorities in Encephalitis: Consensus Statement of the International Encephalitis Consortium. Clinical Infectious Diseases. 57(8), 1114-1128. [Abstract]
  • Troedson, C., Wong, M., Dalby-Payne, J., Wilson, M., Dexter, M., Rice, G., Crow, Y., Dale, R. (2013), Systemic lupus erythematosus due to C1q deficiency with progressive encephalopathy, intracranial calcification and acquired moyamoya cerebral vasculopathy. Lupus. 22(6), 639-643. [Abstract]


  • Burkitt-Wright, E., Bradley, L., Shorto, J., McConnell, V., Gannon, C., Firth, H., Park, S., D'Amore, A., Munyard, P., Turnpenny, P., Charlton, A., Wilson, M., Kerr, B. (2012), Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val. American Journal of Medical Genetics. Part A. 158A(5), 1102-1110. [Abstract]
  • Field, M., Scheffer, I., Gill, D., Wilson, M., Christie, L., Shaw, M., Gardner, A., Glubb, G., Hobson, L., Corbett, M., Friend, K., Willis-Owen, S., Gecz, J. (2012), Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations. European Journal of Human Genetics. 20(7), 806-809. [Abstract]
  • Cho, Y., Tchan, M., Roy, B., Halliday, R., Wilson, M., Dutt, S., Siew, S., Munns, C., Howard, N. (2012), Recombinant Parathyroid Hormone Therapy for Severe Neonatal Hypoparathyroidism. Journal of Pediatrics. 160(2), 345-348. [Abstract]
  • Evans, E., Einfeld, S., Mowat, D., Taffe, J., Tonge, B., Wilson, M. (2012), The behavioral phenotype of Mowat-Wilson syndrome. American Journal of Medical Genetics. Part A. 158A(2), 358-366. [Abstract]


  • Chopra, M., Lawson, J., Wilson, M., Kennedy, S., Taylor, P., Buckley, M., Wargon, O., Parasivam, G., Camphausen, C., Yates, D., Mowat, D. (2011), An Australian tuberous sclerosis cohort: Are surveillance guidelines being met?. Journal of paediatrics and child health. 47(10), 711-6. [Abstract]
  • Burkitt Wright, E., Spencer, H., Daly, S., Manson, F., Zeef, L., Urquhart, J., Zoppi, N., Bonshek, R., Tosounidis, I., Mohan, M., Madden, C., Dodds, A., Chandler, K., Banka, S., Au, L., Clayton-Smith, J., Khan, N., Biesecker, L., Wilson, M., Rohrbach, M., Colombi, M., Giunta, C., Black, G. (2011), Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance. American Journal of Human Genetics. 88(6), 767-777. [Abstract]
  • Goldblatt, J., Fletcher, J., McGill, J., Szer, J., Wilson, M. (2011), Enzyme replacement therapy "drug holiday": results from an unexpected shortage of an orphan drug supply in Australia. Blood Cells, Molecules and Diseases. 46(1), 107-110. [Abstract]
  • Compton, A., Troedson, C., Wilson, M., Procopis, P., Li, F., Brundage, E., Yamazaki, T., Thorburn, D., Wong, L. (2011), Application of oligonucleotide array CGH in the detection of a large intragenic deletion in POLG associated with Alpers Syndrome. Mitochondrion. 11(1), 104-107. [Abstract]


  • David-Vizcarra, G., Briody, J., Ault, J., Fietz, M., Fletcher, J., Savarirayan, R., Wilson, M., McGill, J., Edwards, M., Munns, C., Alcausin, M., Cathey, S., Sillence, D. (2010), The natural history and osteodystrophy of mucolipidosis types II and III. Journal of paediatrics and child health. 46(6), 316-22. [Abstract]
  • Hackett, A., Tarpey, P., Licata, A., Cox, J., Whibley, A., Boyle, J., Rogers, C., Grigg, J., Partington, M., Stevenson, R., Tolmie, J., Yates, J., Turner, G., Wilson, M., Futreal, A., Corbett, M., Shaw, M., Gecz, J., Raymond, F., Stratton, M., Schwartz, C., Abidi, F. (2010), CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes. European journal of human genetics : EJHG. 18(5), 544-52. [Abstract]
  • van Bon, B., Koolen, D., Brueton, L., McMullan, D., Lichtenbelt, K., Adès, L., Peters, G., Gibson, K., Moloney, S., Novara, F., Pramparo, T., Dalla Bernardina, B., Zoccante, L., Balottin, U., Piazza, F., Pecile, V., Gasparini, P., Guerci, V., Kets, M., Pfundt, R., de Brouwer, A., Veltman, J., de Leeuw, N., Wilson, M., Antony, J., Reitano, S., Luciano, D., Fichera, M., Romano, C., Brunner, H., Zuffardi, O., de Vries, B. (2010), The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype. European Journal of Human Genetics. 18(2), 163-170. [Abstract]
  • Kouwenhoven, E., van Heeringen, S., Tena, J., Oti, M., Dutilh, B., Alonso, M., de la Calle-Mustienes, E., Smeenk, L., Rinne, T., Parsaulian, L., Bolat, E., Jurgelenaite, R., Huynen, M., Hoischen, A., Veltman, J., Brunner, H., Roscioli, T., Oates, E., Wilson, M., Manzanares, M., Gomez-Skarmeta, J., Stunnenberg, H., Lohrum, M., van Bokhoven, H., Zhou, H. (2010), Genome-Wide Profiling of p63 DNA-Binding Sites Identifies an Element that Regulates Gene Expression during Limb Development in the 7q21 SHFM1 Locus. Plos Genetics. 6(8), e1001065. [Abstract]
  • Mowat, D., Wilson, M. (2010), Mowat-Wilson Syndrome. In: Management of Genetic Syndromes 3rd edition. (pp.517-528).United States: Wiley-Blackwell Publishing, Inc..


  • Tan, T., Aftimos, S., Worgan, L., Susman, R., Wilson, M., Ghedia, S., Kirk, E., Love, D., Ronan, A., Darmanian, A., Slavotinek, A., Hogue, J., Moeschler, J., Ozmore, J., Widmer, R., Savarirayan, R., Peters, G. (2009), Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome. Journal of Medical Genetics. , 480-489. [Abstract]
  • Kleefstra, T., van Zelst-Stams, W., Nillesen, W., Cormier-Daire, V., Houge, G., Foulds, N., van Dooren, M., Willemsen, M., Pfundt, R., Turner, A., Wilson, M., McGaughran, J., Rauch, A., Zenker, M., Adam, M., Innes, M., Davies, C., Lopez, A., Casalone, R., Weber, A., Brueton, L., Navarro, A., Bralo, M., Venselaar, H., Stegmann, S., Yntema, H., van Bokhoven, H., Brunner, H. (2009), Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype. Journal of Medical Genetics. 46, 598-606. [Abstract]
  • James, P., Culling, B., Mullan, G., Jenkins, M., Elalkis, G., Turners, A., Mowat, D., Wilson, M., Anderson, P., Savarirayan, R., Cliffe, S., Caramins, M., Buckley, M., Tucker, K., Roscioli, T. (2009), Breast Cancer Risk Is Not Increased in Individuals with TWISTI Mutation Confirmed Saethre-Chotzen Syndrome: An Australian Multicenter Study. Genes Chromosomes & Cancer. 48, 533-538. [Abstract]


  • Wilson, M., Peters, G., Bennetts, B., McGillivray, G., Wu, Z., Poon, C., Algar, E. (2008), The clinical phenotype of mosaicism for genome-wide paternal uniparental disomy: Two new reports. American journal of medical genetics. Part A. 146A, 137-48. [Abstract]
  • Wilson, M., Goossens, M., Dastot-Le Moal, F., Mowat, D. (2008), ZFHX1B and Mowat-Wilson syndrome. In: Inborn Errors of Development 2nd edition. (pp.425-432).United States: Oxford University Press.