Associate Professor Meredith Wilson

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

Telephone 02 9845 3273
Fax 02 9845 3204

Map

Selected publications

Download citations: PDF RTF Endnote

Book Chapters

  • Mowat, D., Wilson, M. (2010). Mowat-Wilson Syndrome. In S.B Cassidy and J.E. Allanson (Eds.), Management of Genetic Syndromes, (pp. 517-528). USA: Wiley-Blackwell Publishing.
  • Wilson, M., Goossens, M., Dastot-Le Moal, F., Mowat, D. (2008). ZEB2 and Mowat-Wilson syndrome. In C.J. Epstein, R.P. Erickson, A. Wynshaw-Boris (Eds.), Inborn Errors of Development (2nd ed), (pp. 425-432). United States of America: Oxford University Press.

Journals

  • Helsmoortel, C., Vulto-van Silfhout, A., Coe, B., Vandeweyer, G., Rooms, L., van den Ende, J., Schuurs-Hoeijmakers, J., Marcelis, C., Willemsen, M., Vessers, L., Wilson, M., et al (2014). A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. Nature Genetics, 46(4), 380-384. [More Information]
  • Grozeva, D., Carss, K., Spasic-Boskovic, O., Parker, M., Archer, H., Firth, H., Park, S., Canham, N., Holder, S., Wilson, M., et al (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. [More Information]
  • 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. [More Information]
  • 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. [More Information]
  • Ng, W., Pasutto, F., Bardakjian, T., Wilson, M., Watson, G., Schneider, A., Mackey, D., Grigg, J., Zenker, M., Jamieson, R. (2013). A puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same family. Clinical Genetics, 83(2), 162-168. [More Information]
  • Roscioli, T., Elakis, G., Cox, T., Moon, D., Venselaar, H., Turner, A., Le, T., Hackett, E., Haan, E., Colley, A., Collins, F., Wilson, M., et al (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), 259-270. [More Information]
  • 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. [More Information]
  • 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. [More Information]
  • Fehr, S., Wilson, M., Downs, J., Williams, S., Murgia, A., Sartori, S., Vecchi, M., Ho, G., Polli, R., Psoni, S., Christodoulou, J., et al (2013). The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy. European Journal of Human Genetics, 21(3), 266-273. [More Information]
  • Field, M., Scheffer, I., Gill, D., Wilson, M., Christie, L., Shaw, M., Gardner, A., Glubb, G., Hobson, L., Corbett, M., et al (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. [More Information]
  • Burkitt Wright, E., Bradley, L., Shorto, J., McConnell, V., Gannon, C., Firth, H., Park, S., D'Amore, A., Munyard, P., Turnpenny, P., Wilson, M., et al (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. [More Information]
  • 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. The Journal of Pediatrics, 160(2), 345-348. [More Information]
  • 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. [More Information]
  • Chopra, M., Lawson, J., Wilson, M., Kennedy, S., Taylor, P., Buckley, M., Wargon, O., Parasivam, G., Camphausen, C., Yates, D., et al (2011). An Australian tuberous sclerosis cohort: Are surveillance guidelines being met? Journal of Paediatrics and Child Health, 47(10), 711-716. [More Information]
  • 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. [More Information]
  • 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. [More Information]
  • Burkitt Wright, E., Spencer, H., Daly, S., Manson, F., Zeef, L., Urquhart, J., Zoppi, N., Bonshek, R., Tosounidis, I., Mohan, M., Wilson, M., et al (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. [More Information]
  • Hackett, A., Tarpey, P., Licata, A., Cox, J., Whibley, A., Boyle, J., Rogers, C., Grigg, J., Partington, M., Stevenson, R., Wilson, M., et al (2010). CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes. European Journal of Human Genetics, 18(5), 544-552. [More Information]
  • Kouwenhoven, E., van Heeringen, S., Tena, J., Oti, M., Dutilh, B., Alonso, M., Calle-Mustienes, E., Smeenk, L., Rinne, T., Parsaulian, L., Wilson, M., et al (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 -1-e1001065 -15. [More Information]
  • van Bon, B., Koolen, D., Brueton, L., McMullan, D., Lichtenbelt, K., Ades, L., Peters, G., Gibson, K., Novara, F., Pramparo, T., Wilson, M., et al (2010). The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype. European Journal of Human Genetics, 18(2), 163-170. [More Information]
  • David-Vizcarra, G., Briody, J., Ault, J., Fietz, M., Fletcher, J., Savarirayan, R., Wilson, M., McGill, J., Edwards, M., Munns, C., Sillence, D., et al (2010). The natural history and osteodystrophy of mucolipidosis types II and III. Journal of Paediatrics and Child Health, 46(6), 316-322. [More Information]
  • James, P., Culling, B., Mullan, G., Jenkins, M., Elakis, G., Turner, A., Mowat, D., Wilson, M., Anderson, P., Savarirayan, R., et al (2009). Breast Cancer Risk Is Not Increased in Individuals with TWISTI Mutation Confirmed Saethre-Chotzen Syndrome: An Australian Multicenter Study. Genes Chromosomes and Cancer, 48, 533-538. [More Information]
  • Valappil, S., Ready, D., Abou Neel, E., Pickup, D., O"Dell, L., Chrzanowski, W., Pratten, J., Newport, R., Smith, M., Wilson, M., et al (2009). Controlled delivery of antimicrobial gallium ions from phosphate-based glasses. Acta Biomaterialia, 5(4), 1198-1210. [More Information]
  • Kleefstra, T., van Zelst-Stams, W., Nillesen, W., Cormier-Daire, V., Houge, D., Foulds, N., van Dooren, M., Willemsen, M., Pfundt, R., Turner, A., et al (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(9), 598-606. [More Information]
  • Tan, T., Aftimos, S., Worgan, L., Susman, R., Wilson, M., Ghedia, S., Kirk, E., Love, D., Ronan, A., Darmanian, A., Widmer, R., Peters, G., et al (2009). Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome. Journal of Medical Genetics, 46(7), 480-489. [More Information]
  • Liang, H., Morel-Kopp, M., Curtin, J., Wilson, M., Hewson, J., Chen, W., Ward, C. (2007). Heterozygous loss of platelet glycoprotein (GP) Ib-V-IX variably affects platelet function in velocardiofacial syndrome (VCFS) patients. Thrombosis and Haemostasis, 98(6), 1298-1308.
  • Liang, H., Morel-Kopp, M., Curtin, J., Wilson, M., Hewson, J., Chen, W., Ward, C. (2007). Heterozygous loss of platelet glycoprotein (GP) Ib-V-IX variably affects platelet function in velocardiofacial syndrome (VCFS) patients. Thrombosis and Haemostasis, 98(6), 1298-1308. [More Information]
  • Deardorff, M., Kaur, M., Yaeger, D., Rampuria, A., Korolev, S., Pie, J., Gil-Rodriguez, C., Arnedo, M., Loeys, B., Kline, A., Wilson, M., et al (2007). Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation. American Journal of Human Genetics, 80(3), 485-494. [More Information]
  • Blue, G., Mah, J., Cole, A., Lal, V., Wilson, M., Chard, R., Sholler, G., Hawker, R., Sherwood, M., Winlaw, D. (2007). The negative impact of Alagille syndrome on survival of infants with pulmonary atresia. The Journal of Thoracic and Cardiovascular Surgery, 133, 1094-1096. [More Information]
  • Florence, D., Wilson, M., Mowat, D., Collot, N., Niel, F., Goossens, M. (2007). ZFHX1B mutations in patients with Mowat-Wilson syndrome. Human Mutation, 28(4), 313-321. [More Information]
  • Trent, R., Webster, B., Bowden, D., Gilbert, A., Ho, J., Lindeman, R., Lammi, A., Rowell, J., Hinchcliffe, M., Colley, A., et al (2006). Complex phenotypes in the haemoglobinopathies: recommendations on screening and DNA testing. Pathology, 38(6), 507-519.
  • Willcock, C., Grigg, J., Wilson, M., Tam, P., Billson, F., Jamieson, R. (2006). Congenital iris ectropion as an indicator of variant aniridia. The British Journal of Ophthalmology, 90(5), 658-659.
  • Gabbett, M., Jones, K., Cowell, C., Sillence, D., Wilson, M. (2006). Neonatal severe hyperparathyroidism: An important clue to the aetiology. Journal of Paediatrics and Child Health, 42(12), 813-816. [More Information]
  • Wilson, M., Flanagan, J., Rhodes, M., Beutler, E. (2006). The identification of a recurrent phosphoglycerate kinase mutation associated with chronic haemolytic anaemia and neurological dysfunction in a family from USA. British Journal of Haematology, 134, 233-237. [More Information]
  • Vlangos, C., Wilson, M., Blancato, J., Smith, A., Elsea, S. (2005). Diagnostic FISH probes for del(17)(p11.2p11.2) associated with Smith-Magenis syndrome should contain the RAI1 gene. American Journal of Medical Genetics. Part A, 132(3), 278-82. [More Information]
  • Goldblatt, J., Szer, J., Fletcher, J., McGill, J., Rowell, J., Wilson, M. (2005). Enzyme replacement therapy for Gaucher disease in Australia. Internal Medicine Journal, 35(156), 161. [More Information]
  • Levison, J., Neas, K., Wilson, M., Cooper, P., Wojtulewicz, J. (2005). Neonatal nasal obstruction and a single maxillary central incisor. Journal of Paediatrics and Child Health, 41(7), 380-1. [More Information]
  • Neas, K., Bennetts, B., Carpenter, K., White, R., Kirk, E., Wilson, M., Kelley, R., Baric, I., Christodoulou, J. (2005). OPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria. Journal of Inherited Metabolic Disease (JIMD), 28(4), 525-532. [More Information]
  • Neas, K., Bennetts, B., Carpenter, K., White, R., Kirk, E., Wilson, M., Kelley, R., Baric, I., Christodoulou, J. (2005). OPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria. Journal of Inherited Metabolic Disease (JIMD), 28(4), 525-532. [More Information]
  • McGaughran, J., Sinnott, S., Dastot-Le Moal, F., Wilson, M., Mowat, D., Sutton, B., Goossens, M. (2005). Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation. American Journal of Medical Genetics. Part A, 137(3), 302-4. [More Information]
  • Ades, L., White, S., Amor, D., Liebelt, J., Bankier, A., Baker, E., Wilson, M., Savarirayan, R. (2003). Two further cases of Ohdo syndrome delineate the phenotypic variability of the condition. Clinical Dysmorphology, 12(2), 109-113.
  • McCusker, E., Richards, F., Sillence, D., Wilson, M., Trent, R. (2000). Huntington's disease: neurological assessment of potential gene carriers presenting for predictive DNA testing. Journal of Clinical Neuroscience.

Conferences

  • Davies, E., Purcell, A., Wilson, M. (2001). Speech, resonance and feeding characteristics of children with 22q11.2 deletion. 2001 National Speech Pathology Australia Conference. Ads & Adea.

2014

  • Helsmoortel, C., Vulto-van Silfhout, A., Coe, B., Vandeweyer, G., Rooms, L., van den Ende, J., Schuurs-Hoeijmakers, J., Marcelis, C., Willemsen, M., Vessers, L., Wilson, M., et al (2014). A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. Nature Genetics, 46(4), 380-384. [More Information]
  • Grozeva, D., Carss, K., Spasic-Boskovic, O., Parker, M., Archer, H., Firth, H., Park, S., Canham, N., Holder, S., Wilson, M., et al (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. [More Information]
  • 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. [More Information]
  • 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. [More Information]

2013

  • Ng, W., Pasutto, F., Bardakjian, T., Wilson, M., Watson, G., Schneider, A., Mackey, D., Grigg, J., Zenker, M., Jamieson, R. (2013). A puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same family. Clinical Genetics, 83(2), 162-168. [More Information]
  • Roscioli, T., Elakis, G., Cox, T., Moon, D., Venselaar, H., Turner, A., Le, T., Hackett, E., Haan, E., Colley, A., Collins, F., Wilson, M., et al (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), 259-270. [More Information]
  • 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. [More Information]
  • 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. [More Information]
  • Fehr, S., Wilson, M., Downs, J., Williams, S., Murgia, A., Sartori, S., Vecchi, M., Ho, G., Polli, R., Psoni, S., Christodoulou, J., et al (2013). The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy. European Journal of Human Genetics, 21(3), 266-273. [More Information]

2012

  • Field, M., Scheffer, I., Gill, D., Wilson, M., Christie, L., Shaw, M., Gardner, A., Glubb, G., Hobson, L., Corbett, M., et al (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. [More Information]
  • Burkitt Wright, E., Bradley, L., Shorto, J., McConnell, V., Gannon, C., Firth, H., Park, S., D'Amore, A., Munyard, P., Turnpenny, P., Wilson, M., et al (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. [More Information]
  • 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. The Journal of Pediatrics, 160(2), 345-348. [More Information]
  • 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. [More Information]

2011

  • Chopra, M., Lawson, J., Wilson, M., Kennedy, S., Taylor, P., Buckley, M., Wargon, O., Parasivam, G., Camphausen, C., Yates, D., et al (2011). An Australian tuberous sclerosis cohort: Are surveillance guidelines being met? Journal of Paediatrics and Child Health, 47(10), 711-716. [More Information]
  • 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. [More Information]
  • 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. [More Information]
  • Burkitt Wright, E., Spencer, H., Daly, S., Manson, F., Zeef, L., Urquhart, J., Zoppi, N., Bonshek, R., Tosounidis, I., Mohan, M., Wilson, M., et al (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. [More Information]

2010

  • Hackett, A., Tarpey, P., Licata, A., Cox, J., Whibley, A., Boyle, J., Rogers, C., Grigg, J., Partington, M., Stevenson, R., Wilson, M., et al (2010). CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes. European Journal of Human Genetics, 18(5), 544-552. [More Information]
  • Kouwenhoven, E., van Heeringen, S., Tena, J., Oti, M., Dutilh, B., Alonso, M., Calle-Mustienes, E., Smeenk, L., Rinne, T., Parsaulian, L., Wilson, M., et al (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 -1-e1001065 -15. [More Information]
  • Mowat, D., Wilson, M. (2010). Mowat-Wilson Syndrome. In S.B Cassidy and J.E. Allanson (Eds.), Management of Genetic Syndromes, (pp. 517-528). USA: Wiley-Blackwell Publishing.
  • van Bon, B., Koolen, D., Brueton, L., McMullan, D., Lichtenbelt, K., Ades, L., Peters, G., Gibson, K., Novara, F., Pramparo, T., Wilson, M., et al (2010). The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype. European Journal of Human Genetics, 18(2), 163-170. [More Information]
  • David-Vizcarra, G., Briody, J., Ault, J., Fietz, M., Fletcher, J., Savarirayan, R., Wilson, M., McGill, J., Edwards, M., Munns, C., Sillence, D., et al (2010). The natural history and osteodystrophy of mucolipidosis types II and III. Journal of Paediatrics and Child Health, 46(6), 316-322. [More Information]

2009

  • James, P., Culling, B., Mullan, G., Jenkins, M., Elakis, G., Turner, A., Mowat, D., Wilson, M., Anderson, P., Savarirayan, R., et al (2009). Breast Cancer Risk Is Not Increased in Individuals with TWISTI Mutation Confirmed Saethre-Chotzen Syndrome: An Australian Multicenter Study. Genes Chromosomes and Cancer, 48, 533-538. [More Information]
  • Valappil, S., Ready, D., Abou Neel, E., Pickup, D., O"Dell, L., Chrzanowski, W., Pratten, J., Newport, R., Smith, M., Wilson, M., et al (2009). Controlled delivery of antimicrobial gallium ions from phosphate-based glasses. Acta Biomaterialia, 5(4), 1198-1210. [More Information]
  • Kleefstra, T., van Zelst-Stams, W., Nillesen, W., Cormier-Daire, V., Houge, D., Foulds, N., van Dooren, M., Willemsen, M., Pfundt, R., Turner, A., et al (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(9), 598-606. [More Information]
  • Tan, T., Aftimos, S., Worgan, L., Susman, R., Wilson, M., Ghedia, S., Kirk, E., Love, D., Ronan, A., Darmanian, A., Widmer, R., Peters, G., et al (2009). Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome. Journal of Medical Genetics, 46(7), 480-489. [More Information]

2008

  • Wilson, M., Goossens, M., Dastot-Le Moal, F., Mowat, D. (2008). ZEB2 and Mowat-Wilson syndrome. In C.J. Epstein, R.P. Erickson, A. Wynshaw-Boris (Eds.), Inborn Errors of Development (2nd ed), (pp. 425-432). United States of America: Oxford University Press.

2007

  • Liang, H., Morel-Kopp, M., Curtin, J., Wilson, M., Hewson, J., Chen, W., Ward, C. (2007). Heterozygous loss of platelet glycoprotein (GP) Ib-V-IX variably affects platelet function in velocardiofacial syndrome (VCFS) patients. Thrombosis and Haemostasis, 98(6), 1298-1308.
  • Liang, H., Morel-Kopp, M., Curtin, J., Wilson, M., Hewson, J., Chen, W., Ward, C. (2007). Heterozygous loss of platelet glycoprotein (GP) Ib-V-IX variably affects platelet function in velocardiofacial syndrome (VCFS) patients. Thrombosis and Haemostasis, 98(6), 1298-1308. [More Information]
  • Deardorff, M., Kaur, M., Yaeger, D., Rampuria, A., Korolev, S., Pie, J., Gil-Rodriguez, C., Arnedo, M., Loeys, B., Kline, A., Wilson, M., et al (2007). Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation. American Journal of Human Genetics, 80(3), 485-494. [More Information]
  • Blue, G., Mah, J., Cole, A., Lal, V., Wilson, M., Chard, R., Sholler, G., Hawker, R., Sherwood, M., Winlaw, D. (2007). The negative impact of Alagille syndrome on survival of infants with pulmonary atresia. The Journal of Thoracic and Cardiovascular Surgery, 133, 1094-1096. [More Information]
  • Florence, D., Wilson, M., Mowat, D., Collot, N., Niel, F., Goossens, M. (2007). ZFHX1B mutations in patients with Mowat-Wilson syndrome. Human Mutation, 28(4), 313-321. [More Information]

2006

  • Trent, R., Webster, B., Bowden, D., Gilbert, A., Ho, J., Lindeman, R., Lammi, A., Rowell, J., Hinchcliffe, M., Colley, A., et al (2006). Complex phenotypes in the haemoglobinopathies: recommendations on screening and DNA testing. Pathology, 38(6), 507-519.
  • Willcock, C., Grigg, J., Wilson, M., Tam, P., Billson, F., Jamieson, R. (2006). Congenital iris ectropion as an indicator of variant aniridia. The British Journal of Ophthalmology, 90(5), 658-659.
  • Gabbett, M., Jones, K., Cowell, C., Sillence, D., Wilson, M. (2006). Neonatal severe hyperparathyroidism: An important clue to the aetiology. Journal of Paediatrics and Child Health, 42(12), 813-816. [More Information]
  • Wilson, M., Flanagan, J., Rhodes, M., Beutler, E. (2006). The identification of a recurrent phosphoglycerate kinase mutation associated with chronic haemolytic anaemia and neurological dysfunction in a family from USA. British Journal of Haematology, 134, 233-237. [More Information]

2005

  • Vlangos, C., Wilson, M., Blancato, J., Smith, A., Elsea, S. (2005). Diagnostic FISH probes for del(17)(p11.2p11.2) associated with Smith-Magenis syndrome should contain the RAI1 gene. American Journal of Medical Genetics. Part A, 132(3), 278-82. [More Information]
  • Goldblatt, J., Szer, J., Fletcher, J., McGill, J., Rowell, J., Wilson, M. (2005). Enzyme replacement therapy for Gaucher disease in Australia. Internal Medicine Journal, 35(156), 161. [More Information]
  • Levison, J., Neas, K., Wilson, M., Cooper, P., Wojtulewicz, J. (2005). Neonatal nasal obstruction and a single maxillary central incisor. Journal of Paediatrics and Child Health, 41(7), 380-1. [More Information]
  • Neas, K., Bennetts, B., Carpenter, K., White, R., Kirk, E., Wilson, M., Kelley, R., Baric, I., Christodoulou, J. (2005). OPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria. Journal of Inherited Metabolic Disease (JIMD), 28(4), 525-532. [More Information]
  • Neas, K., Bennetts, B., Carpenter, K., White, R., Kirk, E., Wilson, M., Kelley, R., Baric, I., Christodoulou, J. (2005). OPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria. Journal of Inherited Metabolic Disease (JIMD), 28(4), 525-532. [More Information]
  • McGaughran, J., Sinnott, S., Dastot-Le Moal, F., Wilson, M., Mowat, D., Sutton, B., Goossens, M. (2005). Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation. American Journal of Medical Genetics. Part A, 137(3), 302-4. [More Information]

2003

  • Ades, L., White, S., Amor, D., Liebelt, J., Bankier, A., Baker, E., Wilson, M., Savarirayan, R. (2003). Two further cases of Ohdo syndrome delineate the phenotypic variability of the condition. Clinical Dysmorphology, 12(2), 109-113.

2001

  • Davies, E., Purcell, A., Wilson, M. (2001). Speech, resonance and feeding characteristics of children with 22q11.2 deletion. 2001 National Speech Pathology Australia Conference. Ads & Adea.

2000

  • McCusker, E., Richards, F., Sillence, D., Wilson, M., Trent, R. (2000). Huntington's disease: neurological assessment of potential gene carriers presenting for predictive DNA testing. Journal of Clinical Neuroscience.

To update your profile click here. For support on your academic profile contact .