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Baas, Annette F., Gabbett, Michael, Rimac, Milan, Kansikas, Minttu, Raphael, Martine, Nievelstein, Rutger A. J., Nicholls, Wayne, Offerhaus, Johan, Bodmer, Danielle, Wernstedt, Annekatrin, Krabichler, Birgit, Strasser, Ulrich, Nystrom, Minna, Zschocke, Johannes, Robertson, Stephen P., van Haelst, Mieke M. and Wimmer, Katharina (2013) Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome. European Journal of Human Genetics, 21 1: 55-61. doi:10.1038/ejhg.2012.117 49   6 Cited 7 times in Scopus7 1
Kamien, B.A. and Gabbett, M.T. (2009) Aicardi syndrome associated with hepatoblastoma and pulmonary sequestration. American Journal of Medical Genetics, Part A, 149 8: 1850-1852. doi:10.1002/ajmg.a.32985 47   0 Cited 0 times in Scopus0 0
Michael T. Gabbett, Ronald C. Clark and Julie M. McGaughran (2008) A second case of severe mental retardation and absent nails of hallux and pollex (Temple-Baraitser Syndrome). American Journal of Medical Genetics, 146A 4: 450-452. doi:10.1002/ajmg.a.32129 87   5 Cited 4 times in Scopus4 0
Jenkins, Dagan, Baynam, Gareth, De Catte, Luc, Elcioglu, Nursel, Gabbett, Michael T., Hudgins, Louanne, Hurst, Jane A., Jehee, Fernanda Sarquis, Oley, Christine and Wilkie, Andrew O. M. (2011) Carpenter Syndrome: Extended RAB23 Mutation Spectrum and Analysis of Nonsense-mediated mRNA Decay. Human Mutation, 32 4: E2069-E2078. doi:10.1002/humu.21457 22   11 Cited 16 times in Scopus16 0
Michael T. Gabbett, Stephen P. Robertson, Roland Broadbent, Salim Aftimos, Rani Sachdev and Marjan M. Nezarati (2008) Chacterizing the oculoauriculofrontal syndrome. Clinical Dysmorphology, 17 2: 79-85. doi:10.1097/MCD.0b013e3282f449c8 75   8 Cited 8 times in Scopus8 0
Gabbett, Michael T. (2010). Future developments in newborn metabolic and genetic screening. In Carlie J. Discoll and Bradley McPherson (Ed.), Newborn screening systems: The complete perspective (pp. 157-163) San Diego, CA, U.S.A.: Plural Publishing. 75 4
Roscioli T., Elakis G., Cox T.C., Moon D.J., Venselaar H., Turner A.M., Le T., Hackett E., Haan E., Colley A., Mowat D., Worgan L., Kirk E.P., Sachdev R., Thompson E., Gabbett M., Mcgaughran J., Gibson K., Gattas M., Freckmann M.-L., Dixon J., Hoefsloot L., Field M., Hackett A., Kamien B., Edwards M., Ades L.C., Collins F.A., Wilson M.J., Savarirayan R., Tan T.Y., Amor D.J., Mcgillivray G., White S.M., Glass I.A., David D.J., Anderson P.J., Gianoutsos M. and Buckley M.F. (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. doi:10.1002/ajmg.c.31378 21 2 3 Cited 4 times in Scopus4 2
Delatycki, Martin B., Burke, Jo, Christie, Louise, Collins, Felicity, Gabbett, Michael, George, Peter, Haan, Eric, Ioannou, Liane, Martin, Nicole, McKenzie, Fiona, O'Leary, Peter, Scoble-Williams, Nicole, Turner, Gillian and Massie, John (2014) Human genetics society of Australasia position statement: population-based carrier screening for cystic fibrosis. Twin Research and Human Genetics, 17 6: 578-583. doi:10.1017/thg.2014.65 14   0 Cited 0 times in Scopus0 2
Johnston, Jennifer J., Sapp, Julie C., Turner, Joyce T., Amor, David, Aftimos, Salim, Aleck, Kyrieckos A, Bocian, Maureen, Bodurtha, Joann N., Cox, Gerald F., Curry, Cynthia J., Day, Ruth, Donnai, Dian, Field, Michael, Fujiwara, Ikuma, Gabbett, Michael, Gal, Moran, Graham, John M., Hedera, Peter, Hennekam, Raoul C.M., Hersh, Joseph H., Hopkin, Robert J, Kayserili, Hülya, Kidd, Alexa M.J, Kimonis, Virginia, Lin, Angela E., Lynch, Sally Ann, Maisenbacher, Melissa, Mansour, Sahar, McGaughran, Julie, Mehta, Lakshmi, Murphy, Helen, Raygada, Margarita, Robin, Nathaniel H., Rope, Alan F., Rosenbaum, Kenneth N., Schaefer, G. Bradley, Shealy, Amy, Smith, Wendy, Soller, Maria, Sommer, Annmarie, Stalker, Heather J., Steiner, Bernhard, Stephan, Mark J., Tilstra, David, Tomkins, Susan, Trapane, Pamela, Tsai, Anne Chun-Hui, Van Allen, Margot I., Vasudevan, Pradeep C., Zabel, Bernhard, Zunich, Janice, Black, Graeme C. M. and Biesecker, Leslie G. (2010) Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. Human mutation, 31 10: 1142-1154. doi:10.1002/humu.21328 74   22 Cited 31 times in Scopus31 0
Lombardi, Maria Paola, Bulk, Saskia, Celli, Jacopo, Lampe, Anne, Gabbett, Michael T., Ousager, Lillian Bomme, van der Smagt, Jasper J., Soller, Maria, Stattin, Eva-Lena, Mannens, Marcel A. M. M., Smigiel, Robert and Hennekam, Raoul C. (2011) Mutation update for the PORCN gene. Human Mutation, 32 7: 723-728. doi:10.1002/humu.21505 44   14 Cited 16 times in Scopus16 0
Gabbett, Michael T., Jones, Kristi, Cowell, Christopher T., Sillence, David O. and Wilson, Meredith J. (2006) Neonatal severe hyperparathyroidism: An important clue to the aetiology. Journal of Paediatrics and Child Health, 42 12: 813-816. doi:10.1111/j.1440-1754.2006.00983.x 93   4 Cited 5 times in Scopus5 0
Jensen, Diane E., McCreanor, John, McTaggart, Steven, Gabbett, Michael and Conwell, Louise S. (2008). Polysyndactyly renal hypoplasia and central precocious puberty:- a case of Pallister-Hall syndrome. In: Asia Pacific Endocrine Society Annual Scientific Meeting, Korea, (). October 2008. 38  
Gabbett, M. T., Peters, G. B., Carmichael, J. M., Darmanian, A. P. and Collins, F. A. (2008) Prader-Willi syndrome phenocopy due to duplication of Xq21.1-q21.31, with array CGH of the critical region. Clinical Genetics, 73 4: 353-359. doi:10.1111/j.1399-0004.2007.00960.x 138   11 Cited 12 times in Scopus12 0
Kamien, Benjamin, Zankl, Andreas and Gabbett, Michael T. (2010) Septo-optic dysplasia and associations with amyoplasia and gastroschisis.. Birth defects research. Part A, Clinical and molecular teratology, 88 6: 497-501. doi:10.1002/bdra.20663 80 14 2 Cited 3 times in Scopus3 0
Jacquinet, Adeline, Gérard, Marion, Gabbett, Michael T., Rausin, Léon, Misson, Jean-Paul, Menten, Björn, Mortier, Geert, Van Maldergem, Lionel, Verloes, Alain and Debray, François-Guillaume (2010) Temple-Baraitser syndrome: A rare and possibly unrecognized condition. American Journal of Medical Genetics, Part A, 152A 9: 2322-2326. doi:10.1002/ajmg.a.33574 83   5 Cited 4 times in Scopus4 0
Hämäläinen, R. H., Mowat, D., Gabbett, M. T., O'Brien, T. A., Kallijärvi, J. and Lehesjoki, A. E. (2006) Wilms' tumor and novel TRIM37 mutations in an Australian patient with mulibrey nanism. Clinical Genetics, 70 6: 473-479. doi:10.1111/j.1399-0004.2006.00700.x 49   6 Cited 8 times in Scopus8 3