B

Biros, Erik, and Golledge, Jonathan (2008) Meta-analysis of whole-genome linkage scans for intracranial aneurysm. Neuroscience Letters, 431 (1). pp. 31-35.

Brueton, Louise A., Chotai, Kokila A., van Herwerden, Lynne, Schinzel, Albert, and Winter, Robin M. (1992) The acrocallosal syndrome and Greig syndrome are not allelic disorders. Journal of Medical Genetics, 29 (9). pp. 635-637.

Brueton, L.A., van Herwerden, L., Chotai, K.A., and Winter, R.M. (1992) The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p. Journal of Medical Genetics, 29 (10). pp. 681-685.

C

Chotai, Kokila A., Brueton, Louise A., van Herwerden, Lyn, Garrett, Christine, Hinkel, Georg K., Schinzel, Albert, Mueller, Robert F., Speleman, Frank, and Winter, Robin M. (1994) Six cases of 7p deletion: clinical, cytogenetic, and molecular studies. American Journal of Medical Genetics, 51 (3). pp. 270-276.

Chotai, K.A., Brueton, L., van Herwerden, L., and Winter, R.M. (1992) Eight cases of 7p deletion: clinical features, cytogenetic findings, and molecular studies. Journal of Medical Genetics, 29 (4). pp. 283-284.

D

Dunkerton, Sophie, Field, Matthew, Cho, Vicki, Bertram, Edward, Whittle, Belinda, Groves, Alexandra, and Goel, Himanshu (2015) A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann–Steiner Syndrome. American Journal of Medical Genetics: Part A, 167 (9). pp. 2182-2187.

Delatycki, Martin B., Paris, Damien B.B.P., McKinlay Gardner, R.J., Nicholson, Garth A., Nassif, Najah, Storey, Elsdon, MacMillan, John C., Collins, Veronica, Williamson, Robert, and Forrest, Susan M. (1999) Clinical and genetic study of Friedreich ataxia in an Australian population. American Journal of Medical Genetics, 87 (2). pp. 168-174.

F

Foster, Steven S., De, Saurav, Johnson, Linda K., Petrini, John H.J., and Stracker, Travis H. (2012) Cell cycle- and DNA repair pathway-specific effects of apoptosis on tumor suppression. Proceedings of the National Academy of Sciences of the United States of America, 109 (25). pp. 9953-9958.

Forrest, Susan M., Knight, Melanie, Delatycki, Martin B., Paris, Damien, Williamson, Robert, King, John, Yeung, Leone, Nassif, Najah, and Nicholson, Garth A. (1998) The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene. Neurogenetics, 1 (4). pp. 253-257.

G

Georgiou-Karistianis, N., Gray, M.A., Domínguez D., J.F., Dymowski, A.R., Bohanna, I., Johnston, L.A., Churchyard, A., Chua, P., Stout, J.C., and Egan, G.F. (2013) Automated differentiation of pre-diagnosis Huntington's disease from healthy control individuals based on quadratic discriminant analysis of the basal ganglia: the IMAGE-HD study. Neurobiology of Disease, 51. pp. 82-92.

Gates, Peter C., Paris, Damien, Forrest, Susan M., Williamson, Robert, and McKinlay Gardner, R.J. (1998) Friedreich's ataxia presenting as adult-onset spastic paraparesis. Neurogenetics, 1 (4). pp. 297-299.

H

Huang, Boyen, Takahashi, Katsu, Jennings, Ernest, Pumtang-on, Pongthorn, Kiso, Honoka, Togo, Yumiko, Saito, Kazuyuki, Sugai, Manabu, Akira, Shizuo, Shimizu, Akira, and Bessho, Kazuhisa (2014) Prospective signs of cleidocranial dysplasia in Cebpb deficiency. Journal of Biomedical Science, 21. 44. pp. 1-8.

Huang, B., Takahashi, K., Sakata-Goto, T., Kiso, H., Togo, Y., Saito, K., Tsukamoto, H., Sugai, M., Akira, S., Shimizu, A., and Bessho, K. (2013) Phenotypes of CCAAT/enhancer-binding protein beta deficiency: hyperdontia and elongated coronoid process. Oral Diseases, 19 (2). pp. 144-150.

Huang, Boyen, Takahashi, Katsu, Sakata, Tomoko, Kiso, Honoka, Sugai, Manabu, Fujimura, Kazuma, Shimizu, Akira, Kosugi, Shinji, Sato, Tosiya, and Bessho, Kazuhisa (2011) Increased risk of temporomandibular joint closed lock: a case-control study of ANKH polymorphisms. PLoS ONE, 10 (6). e25503. pp. 1-7.

K

Kamitani, Atsushi, Wong, Zilla Y.H., Dickson, Phillip, van Herwerden, Lynne, Raven, Joan, Forbes, Andrew B., Abramson, Michael J., Walters, E. Haydn, and Harrap, Stephen B. (1997) Absence of genetic linkage of chromosome 5q31 with asthma and atopy in the general population. Thorax, 52 (9). pp. 816-817.

L

Laha, Thewarach, Pinlaor, Porntip, Mulvenna, Jason, Sripa, Banchob, Sripa, Manop, Smout, Michael J., Gasser, Robin B., Brindley, Paul J., and Loukas, Alex (2007) Gene discovery for the carcinogenic human liver fluke, Opisthorchis viverrini. BMC Genomics, 8. 189. pp. 1-15.

M

Mills, Natalie T., Wright, Margie J., Henders, Anjali K., Eyles, Darryl W., Baune, Bernhard T., McGrath, John J., Byrne, Enda M., Hansell, Narelle K., Birosova, Eva, Scott, James G., Martin, Nicholas G., Montgomery, Grant W., Wray, Naomi R., and Vinkhuyzen, Anna A. E. (2015) Heritability of transforming growth factor-beta 1 and tumor necrosis factor-receptor type 1 expression and vitamin D Levels in healthy adolescent twins. Twin Research and Human Genetics, 18 (1). pp. 28-35.

Mason, J.A., and Bossingham, D. (2009) The clinical characterisation of systemic lupus erythematosus in a Far North Queensland Indigenous kindred. Lupus, 18 (2). pp. 144-148.

McFarlane, Craig, Sharma, Mridula, and Kambadur, Ravi (2008) Myostatin is a procachectic growth factor during postnatal myogenesis. Current Opinion in Clinical Nutrition and Metabolic Care, 11 (4). pp. 422-427.

O

Osthoff, Michael, Dean, Melinda M., Baird, Paul N., Richardson, Andrea J., Daniell, Mark, Guymer, Robyn H., and Eisen, Damon P. (2015) Association study of mannose-binding lectin levels and genetic variants in lectin pathway proteins with susceptibility to age-related macular degeneration: a case-control study. PLoS ONE, 10. e013410. pp. 1-11.

R

Reardon, W., van Herwerden, L., Rose, C., Jones, B., Malcolm, S., and Winter, R.M. (1994) Crouzon syndrome is not linked to craniosynostosis loci at 7p and 5qter. Journal of Medical Genetics, 31 (3). pp. 219-221.

T

Takahashi, Katsu, Kiso, Honoka, Saito, Kazuyuki, Togo, Yumiko, Tsukamoto, Hiroko, Huang, Boyen, and Besho, Kazuhisa (2013) Feasibility of gene therapy for tooth regeneration by stimulation of a third dentition. In: Martin, Francisco, (ed.) Gene therapy: tools and potential applications. InTech, Rijeka, Croatia, pp. 727-744.

Tiong, Keith, Cotterill, Andrew, and Falhammar, Henrik (2010) Adult case of partial trisomy 9q. BMC Medical Genetics, 11 (26). pp. 1-5.

V

van Herwerden, Lynne, Harrap, Stephen B., Wong, Zilla Y.H., Abrahamson, Michael J., Kutin, Jozica J., Forbes, Andrew B., Raven, Joan, Lanigan, Anna, and Walters, E. Haydn (1995) Linkage of high-affinity IgE receptor gene with bronchial hyperreactivity, even in absence of atopy. Lancet, 346 (8985). pp. 1262-1265.

van Herwerden, Lynne, Rose, Charlotte S.P., Reardon, William, Brueton, Louise A., Weissenbach, Jean, Malcolm, Sue, and Winter, Robin M. (1994) Evidence for locus heterogeneity in acrocephalosyndactyly: a refined localization for the Saethre-Chotzen syndrome locus on distal chromosome 7p-- and exclusion of Jackson-Weiss syndrome from craniosynostosis loci on 7p and 5q. American Journal of Human Genetics, 54. pp. 669-674.

W

Wong, Zilla Y.H., Tsonis, Dina, van Herwerden, Lynne, Raven, Joan, Forbes, Andrew, Abramson, Michael J., Walters, E. Haydn, and Harrap, Stephen B. (1997) Linkage analysis of bronchial hyperreactivity and atopy with chromosome 11q13. Electrophoresis, 18 (9). pp. 1641-1645.