Associate Professor Matt Edwards

Associate Professor Matt Edwards

Conjoint Associate Professor,
School of Medicine

School of Medicine


Matt was schooled at Cobbitty and Camden, studied Medicine the University of NSW from 1970-75, was an intern at Prince of Wales and Prince Henry Hospitals in 1976, and trained in paediatrics at the Prince of Wales Children's Hospital in Randwick from 1977-1982.  He was a paediatrician at Camden and Campbelltown Hospitals from 1982, then studied clinical genetics and dysmorphology at Dartmouth Medical Centre, New Hampshire in 1988 and at Cedars-Sinai Medical Centre from 1989-90.  He joined Hunter Genetics, Newcastle NSW Australia as a staff specialist in 1991 and was director of the unit from 2000-2008.  He left NSW Health in 2008 and worked as a locum general paediatrician in many rural and remote areas of Australia until 2010 when he joined the University of Western Sydney School of Medicine's Department of Paediatrics as an associate professor and Campelltown Hospital as a part-time clinical geneticist.

This information has been contributed by Associate Professor Edwards.


  • DMED University of New South Wales
  • MBBS University of New South Wales

Professional Memberships

  • American College of Medical Genetics and Genomics (Fellow) (1993)
  • Human Genetics Society of Australasia (1991)
  • Royal Australasian College of Physicians (Paediatrics) (1982)


  • Dysmprphology and delineation of syndromes
  • Investigation of autism
  • Practical bedside teaching of paediatrics

Organisational Unit (School / Division)

  • School of Medicine
  • School of Medicine


Phone: (02) 4634 4571
Mobile: 0402364080
Location: X7.2.25
Off CampusOff Campus

PLEASE NOTE: obtaining information from this Directory must be for the legitimate purposes of doing business with and within Western Sydney University, and must not be used for unsolicited bulk e-mailing (spamming) or similar purposes.


Chapters in Books

  • Edwards, M. (2017), 'The Barker hypothesis', Handbook of Famine, Starvation, and Nutrient Deprivation: From Biology to Policy, Springer 9783319553863.
  • Edwards, M. (2017), 'Famines, pregnancy and effect on the adults', Diet, Nutrition, and Fetal Programming, Springer 9783319602875.

Journal Articles

  • Byrne, A., Arts, P., Ha, T., Kassahn, K., Pais, L., O'Donnell-Luria, A., Broad Institute Center for Mendelian Genomics, .., Babic, M., Frank, M., Feng, J., Wang, P., Lawrence, D., Eshraghi, L., Arriola, L., Toubia, J., Nguyen, H., Genomic Autopsy Study Research Network, .., Edwards, M., McGillivray, G., Pinner, J., McKenzie, F., Morrow, R., Lipsett, J., Manton, N., Khong, T., Moore, L., Liebelt, J., Schreiber, A., King-Smith, S., Hardy, T., Jackson, M., Barnett, C. and Scott, H. (2023), 'Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death', Nature Medicine, vol 29, no 1 , pp 180 - 189.
  • Wojcik, M., Srivastava, S., Agrawal, P., Balci, T., Callewaert, B., Calvo, P., Carli, D., Caudle, M., Colaiacovo, S., Cross, L., Demetriou, K., Drazba, K., Dutra-Clarke, M., Edwards, M., Genetti, C., Grange, D., Hickey, S., Isidor, B., Kury, S., Lachman, H., Lavillaureix, A., Lyons, M., Marcelis, C., Marco, E., Martinez-Agosto, J., Nowak, C., Pizzol, A., Planes, M., Prijoles, E., Riberi, E., Rush, E., Russell, B., Sachdev, R., Schmalz, B., Shears, D., Stevenson, D., Wilson, K., Jansen, S., de, V. and Curry, C. (2023), 'Jansen-de Vries syndrome : expansion of the PPM1D clinical and phenotypic spectrum in 34 families', American Journal of Medical Genetics. Part A, vol 191, no 7 , pp 1900 - 1910.
  • Lindsey-Temple, S., Edwards, M., Rickassel, V., Nauth, T. and Rosenberger, G. (2022), 'A novel HRAS c.466C>T p.(Phe156Leu) variant in two patients with attenuated features of Costello syndrome', European Journal of Human Genetics, vol 30, no 9 , pp 1088 - 1093.
  • Bournazos, A., Riley, L., Bommireddipalli, S., Ades, L., Akesson, L., Al-Shinnag, M., Alexander, S., Archibald, A., Balasubramaniam, S., Berman, Y., Beshay, V., Boggs, K., Bojadzieva, J., Brown, N., Bryen, S., Buckley, M., Chong, B., Davis, M., Dawes, R., Delatycki, M., Donaldson, L., Downie, L., Edwards, C., Edwards, M., Engel, A., Ewans, L., Faiz, F., Fennell, A., Field, M., Freckmann, M., Gallacher, L., Gear, R., Goel, H., Goh, S., Goodwin, L., Hanna, B., Harraway, J., Higgins, M., Ho, G., Hopper, B., Horton, A., Hunter, M., Huq, A., Josephi-Taylor, S., Joshi, H., Kirk, E., Krzesinski, E., Kumar, K., Lemckert, F., Leventer, R. and et al, .. (2022), 'Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants', Genetics in Medicine, vol 24, no 1 , pp 130 - 145.
  • Dias, K., Carlston, C., Blok, L., De Hayr, L., Nawaz, U., Evans, C., Bayrak-Toydemir, P., Htun, S., Zhu, Y., Ma, A., Lynch, S., Moorwood, C., Stals, K., Ellard, S., Bainbridge, M., Friedman, J., Pappas, J., Rabin, R., Nowak, C., Douglas, J., Wilson, T., Guillen Sacoto, M., Mullegama, S., Palculict, T., Kirk, E., Pinner, J., Edwards, M., Montanari, F., Graziano, C., Pippucci, T., Dingmann, B., Glass, I., Mefford, H., Shimoji, T., Suzuki, T., Yamakawa, K., Streff, H., Schaaf, C., Slavotinek, A., Voineagu, I., Carey, J., Buckley, M., Schenck, A., Harvey, R. and Roscioli, T. (2022), 'De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations', Genetics in Medicine, vol 24, no 9 , pp 1952 - 1966.
  • Ravenscroft, G., Clayton, J., Faiz, F., Sivadorai, P., Milnes, D., Cincotta, R., Moon, P., Kamien, B., Edwards, M., Delatycki, M., Lamont, P., Chan, S., Colley, A., Ma, A., Collins, F., Hennington, L., Zhao, T., McGillivray, G., Ghedia, S., Chao, K., O'Donnell-Luria, A., Laing, N. and Davis, M. (2021), 'Neurogenetic fetal akinesia and arthrogryposis : genetics, expanding genotype-phenotypes and functional genomics', Journal of Medical Genetics, vol 58, no 9 , pp 609 - 618.
  • Biesecker, L., Edwards, M., O'Donnell, S., Doherty, P., MacDougall, T., Tith, K., Kazakin, J. and Schwartz, B. (2020), 'Clinical report : one year of treatment of Proteus syndrome with miransertib (ARQ 092)', Cold Spring Harbor Molecular Case Studies, vol 6, no 1 .
  • Australian Genomics Health Alliance Acute Care Fla, .., Lunke, S., Eggers, S., Wilson, M., Patel, C., Barnett, C., Pinner, J., Sandaradura, S., Buckley, M., Krzesinski, E., De Silva, M., Brett, G., Boggs, K., Mowat, D., Kirk, E., Ades, L., Akesson, L., Amor, D., Ayres, S., Baxendale, A., Borrie, S., Bray, A., Brown, N., Chan, C., Chong, B., Cliffe, C., Delatycki, M. and Edwards, M. (2020), 'Feasibility of ultra-rapid exome sequencing in critically ill infants and children with suspected monogenic conditions in the Australian public health care system', JAMA, vol 323, no 24 , pp 2503 - 2511.
  • Woodward, K., Stampalia, J., Vanyai, H., Rijhumal, H., Potts, K., Taylor, F., Peverall, J., Grumball, T., Sivamoorthy, S., Alinejad-Rokny, H., Wray, J., Whitehouse, A., Nagarajan, L., Scurlock, J., Afchani, S., Edwards, M., Murch, A., Beilby, J., Baynam, G., Kiraly-Borri, C., Mackenzie, F. and Heng, J. (2019), 'Atypical nested 22q11.2 duplications between LCR22B and LCR22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance', Molecular Genetics and Genomic Medicine, vol 7, no 2 .
  • Chapman, G., Moreau, J., Ip, E., Szot, J., Iyer, K., Shi, H., Yam, M., O'Reilly, V., Enriquez, A., Greasby, J., Alankarage, D., Martin, E., Hanna, B., Edwards, M., Monger, S., Blue, G., Winlaw, D., Ritchie, H., Grieve, S., Giannoulatou, E., Sparrow, D. and Dunwoodie, S. (2019), 'Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants', Human Molecular Genetics, vol 29, no 4 , pp 566 - 579.
  • Dagar, V., Hutchison, W., Muscat, A., Krishnan, A., Hoke, D., Buckle, A., Siswara, P., Amor, D., Mann, J., Pinner, J., Colley, A., Wilson, M., Sachdev, R., McGillivray, G., Edwards, M., Kirk, E., Collins, F., Jones, K., Taylor, J., Hayes, I., Thompson, E., Barnett, C., Haan, E., Freckmann, M., Turner, A., White, S., Kamien, B., Ma, A., Mackenzie, F., Baynam, G., Kiraly-Borri, C., Field, M., Dudding-Byth, T. and Algar, E. (2018), 'Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome', Clinical Epigenetics, vol 10 .
  • Brieger, D., Edwards, M., Mudgil, P. and Whitehall, J. (2017), 'Knowledge, attitudes and opinions towards measles and the MMR vaccine across two NSW cohorts', Australian and New Zealand Journal of Public Health, vol 41, no 6 , pp 641 - 646.
  • Cuvertino, S., Stuart, H., Chandler, K., Roberts, N., Armstrong, R., Bernardini, L., Bhaska, S., Callewaert, B., Clayton-Smith, J., Hernando Davalillo, C., Deshpande, C., Devriendt, K., Digilio, M., Dixit, A., Edwards, M., Friedman, J., Gonzalez-Meneses, A., Joss, S., Kerr, B., Lampe, A., Langlois, S., Lennon, R., Loget, P., Ma, D., McGowan, R., Des Medt, M., O?Sullivan, J., Odent, S., Parker, M., Pebrel-Richard, C., Petit, F., Stark, Z., Stockler-Ipsiroglu, S., Tinschert, S., Vasudevan, P., Villa, O., White, S., Zahir, F., Woolf, A. and Banka, S. (2017), 'ACTB loss-of-function mutations result in a pleiotropic developmental disorder', The American Journal of Human Genetics, vol 101, no 6 , pp 1021 - 1033.
  • Edwards, M., Brescianini, S., Allgood, C., Freelander, M., Dunstan, R., Patradoon-Ho, P., Chin, R., Morgan, L., Pervez, T., Legendre, M., Burgess, T., Amselem, S. and Whitehall, J. (2016), 'Syndrome diagnosis with single-nucleotide polymorphism (SNP) microarray', Journal of Paediatrics and Child Health, vol 52, no 1 , pp 85 - 89.
  • Shimojima, K., Narai, S., Togawa, M., Doumoto, T., Sangu, N., Vanakker, O., De Paepe, A., Edwards, M., Whitehall, J., Brescianini, S., Petit, F., Andrieux, J. and Yamamoto, T. (2016), '7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly', European Journal of Medical Genetics, vol 59, no 10 , pp 502 - 506.
  • Edwards, M., Roeper, J., Allgood, C., Chin, R., Santamaria, J., Wong, F., Schwarz, G. and Whitehall, J. (2015), 'Investigation of molybdenum cofactor deficiency due to MOCS2 deficiency in a newborn baby', Meta Gene, vol 3 , pp 43 - 49.
  • Wong, K., Moldrich, R., Hunter, M., Edwards, M., Finlay, D., O'Donnell, S., MacDougall, T., Bain, N. and Kamien, B. (2015), 'A familial 7q36.3 duplication associated with agenesis of the corpus callosum', American Journal of Medical Genetics, Part A, vol 167, no 9 , pp 2201 - 2208.
  • Whitehall, J., McCulloch, R., Edwards, M. and McDonald, J. (2015), 'Engagement of undergraduate medical students of paediatrics in special schools for children with disabilities', Journal of Paediatrics and Child Health, vol 51, no 8 , pp 798 - 801.
  • Edwards, M., Mendoza, G., Tovmassian, D., Ling, T., Teh, J., Zhen Ong, O., Mudgil, P. and Whitehall, J. (2015), 'Kawasaki disease in Campbelltown, a suburban hospital', Journal of Paediatrics and Child Health, vol 51, no 4 , pp 466 - 467.
  • Kogelenberg, M., Clark, A., Jenkins, Z., Morgan, T., Anandan, A., Sawyer, G., Edwards, M., Dudding, T., Homfray, T., Castle, B., Tolmie, J., Stewart, F., Kivuva, E., Pilz, D., Gabbett, M., Sutherland-Smith, A. and Robertson, S. (2015), 'Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA', Journal of Molecular Medicine, vol 93, no 7 , pp 773 - 782.
  • Whitehall, J., Edwards, M., Phan, D. and Thambugala, A. (2014), 'Sonographically detected thickened small bowel in a case of paediatric Salmonella Typhimurium enteritis', Australasian Journal of Ultrasound in Medicine, vol 17, no 1 , pp 54 - 55.
  • Janu, E., Annabattula, B., Kumariah, S., Zajaczkowska, M., Whitehall, J., Edwards, M., Lujic, S. and Masters, I. (2014), 'Paediatric hospitalisations for lower respiratory tract infections in Mount Isa', Medical Journal of Australia, vol 200, no 10 , pp 591 - 594.
  • Marneros, A., Beck, A., Turner, E., McMillin, M., Edwards, M., Field, M., Macena Sobreira, N., Perez, A., Fortes, J., Lampe, A., Giovannucci Uzielli, M., Gordon, C., Plessis, G., Merrer, M., Amiel, J., Reichenberger, E., Shively, K., Cerrato, F., Labow, B. and Tabor, H. (2013), 'Mutations in KCTD1 cause scalp-ear-nipple syndrome', American Journal of Human Genetics, vol 92, no 4 , pp 621 - 626.
  • 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. and Edwards, 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, vol 163, no 4 , pp 259 - 270.
  • Edwards, M. (2012), 'Genetic selection of embryos that later develop the metabolic syndrome', Medical Hypotheses, vol 78, no 5 , pp 621 - 625.
  • Hopper, B., Buckman, M. and Edwards, M. (2011), 'Evaluation of satisfaction of parents with the use of videoconferencing for a pediatric genetic consultation', Twin Research and Human Genetics, vol 14, no 4 , pp 343 - 346.
  • Kannu, P., Bateman, J., Randle, S., Cowie, S., Du Sart, D., Mcgrath, S., Edwards, M. and Savarirayan, R. (2010), 'Premature Arthritis Is a Distinct Type II Collagen Phenotype', Arthritis and Rheumatism, vol 62, no 5 , pp 1421 - 1430.

Delineation of new and older syndromes encountered in paediatrics, perinatal medicine and clinical genetics.

Investigation of the genetic causes of autism

This information has been contributed by Associate Professor Edwards.

Western Sydney University

Locked Bag 1797
Penrith NSW 2751

ABN 53 014 069 881
CRICOS Provider No: 00917k