B

Binder, Michele D., Fox, Andrew D., Merlo, Daniel, Johnson, Laura J., Giuffrida, Lauren, Calvert, Sarah E., Akkermann, Rainer, Ma, Gerry Z.M., Perera, Ashwyn A., Gresle, Melissa M., Laverick, Louise, Foo, Grace, Fabis-Pedrini, Marzena J., Spelman, Timothy, Jordan, Margaret A., Baxter, Alan G., Foote, Simon, Butzkueven, Helmut, Kilpatrick, Trevor J., and Field, Judith (2016) Common and low Frequency variants in MERTK are independently associated with multiple sclerosis susceptibility with discordant association dependent upon HLA-DRB1*15:01 status. PLoS Genetics, 12 (3). e1005853. pp. 1-25.

Baird, Fiona J., and Bennett, Craig L. (2013) Microtubule defects and neurodegeneration. Journal of Genetic Syndromes & Gene Therapy, 4 (11). 1000203. pp. 1-7.

Bennett, C.L., Lawson, V.H., Brickell, K.L., Isaacs, K., Seltzer, W., Lipe, H.P., Weiss, M.D., Carter, G.T., Flanigan, K.M., Chance, P.F., and Bird, T.D. (2008) Late-onset hereditary axonal neuropathies. Neurology, 71 (1). pp. 14-20.

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

Czarnecki, Peter G., Gabriel, George C., Manning, Danielle K., Sergeev, Mikhail, Lemke, Kristi, Klena, Nikolai T., Liu, Xiaoqin, Chen, Yu, Li, You, Agustin, Jovenal T. San, Garnaas, Maija K., Francis, Richard J., Tobita, Kimimasa, Goessling, Wolfram, Pazour, Gregory J., Lo, Cecilia W., Beier, David R., and Shah, Jagesh V. (2015) ANKS6 is the critical activator of NEK8 kinase in embryonic situs determination and organ patterning. Nature Communications, 6. 6023.

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.

Delatycki, M.B., Paris, D., Gardner, R.J.M., Forshaw, K., Nicholson, G.A., Nassif, N., Williamson, R., and Forrest, S.M. (1998) Sperm DNA analysis in a Friedreich ataxia premutation carrier suggests both meiotic and mitotic expansion in the FRDA gene. Journal of Medical Genetics, 35. pp. 713-716.

F

Field, Matthew A., Burgio, Gaetan, Chuah, Aaron, Al Shekaili, Jalila, Hassan, Batool, Al Sukaiti, Nashat, Foote, Simon J., Cook, Matthew C., and Andrews, Daniel T. (2019) Recurrent miscalling of missense variation from short-read genome sequence data. BMC Genomics, 20 (Suppl 8). 546.

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.

Forrest, S.M., Delatycki, M., Paris, D., Gardner, R.J.M., Forshaw, K., Nicholson, G., Nassis, N., Williamson, R., and UNSPECIFIED (1997) The Friedreich's ataxia mutation may originate from a premutation and shows size reduction when transmitted from parent to affected child. American Journal of Human Genetics, 61 (Suppl). 1799. A308-A308.

G

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.

Harrison, E.L., and Baune, B.T. (2014) Modulation of early stress-induced neurobiological changes: a review of behavioural and pharmacological interventions in animal models. Translational Psychiatry, 4. e390.

Ho, Gladys, Reichardt, Juergen, and Christodoulou, John (2013) In vitro read-through of phenylalanine hydroxylase (PAH) nonsense mutations using aminoglycosides: a potential therapy for phenylketonuria. Journal of Inherited Metabolic Diseases, 36 (6). pp. 955-959.

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.

J

Jacob, Minnie (2019) Biomarker discovery and food allergy profiling distinguishes DOCK8 deficiency from atopic dermatitis. PhD thesis, James Cook University.

Jacob, Minnie, Gu, Xinyun, Luo, Xian, Al-Mousa, Hamoud, Arnaout, Rand, Al-Saud, Bandar, Lopata, Andreas L., Li, Liang, Dasouki, Majed, and Abdel Rahman, Anas M. (2019) Metabolomics distinguishes DOCK8 deficiency from atopic dermatitis: towards a biomarker discovery. Metabolites, 9 (11). 274.

Jacob, Minnie, Lopata, Andreas L., Dasouki, Majed, and Abdel Rahman, Anas M. (2019) Metabolomics toward personalized medicine. Mass Spectrometry Reviews, 38 (3). pp. 221-238.

Jordan, Margaret Agnes (2011) Dissecting the genetics of autoimmune diseases. PhD thesis, James Cook University.

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

Li, You, Yagi, Hisato, Onuoha, Ezenwa Obi, Damerla, Rama Rao, Francis, Richard, Furutani, Yoshiyuki, Tariq, Muhammad, King, Stephen M., Hendricks, Gregory, Cui, Cheng, Saydmohammed, Manush, Lee, Dong Min, Zahid, Maliha, Sami, Iman, Leatherbury, Linda, Pazour, Gregory J., Ware, Stephanie M., Nakanishi, Toshio, Goldmuntz, Elizabeth, Tsang, Michael, and Lo, Cecilia W. (2016) DNAH6 and its interactions with PCD genes in heterotaxy and primary ciliary dyskinesia. PLoS Genetics, 12 (2). e1005821.

M

Mehrian-Shai, Ruty, Yalon, Michal, Moshe, Itai, Barshack, Iris, Nass, Dvorah, Jacob, Jasmine, Dor, Chen, Reichardt, Juergen K.V., Constantini, Shlomi, and Toren, Amos (2016) Identification of genomic aberrations in hemangioblastoma by droplet digital PCR and SNP microarray highlights novel candidate genes and pathways for pathogenesis. BMC Genomics, 17. 56. pp. 1-11.

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.

Muhonen, M.G., Martin, D.G., Heistead, D.D., and Welsch, M.J. (1995) Gene transfer to cerebral vessels during vasospasm using recombinant adenovirus. Journal of Neurology, Neurosurgery, and Psychiatry, 60 (2). p. 245.

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.

S

Sakata-Goto, Tomoko, Takahashi, Katsu, Kiso, Honoka, Huang, Boyen, Tsukamoto, Hiroko, Takemoto, Mitsuru, Hayashi, Tatsunari, Sugai, Manabu, Nakamura, Takashi, Yokota, Yoshifumi, Shimizu, Akira, Slavkin, Harold, and Bessho, Kazuhisa (2012) Id2 controls chondrogenesis acting downstream of BMP signaling during maxillary morphogenesis. Bone, 50 (1). pp. 69-78.

Sondhi, Dolan, Johnson, Linda, Purpura, Keith, Monette, Sebastien, Souweidane, Mark M., Kaplitt, Michael G., Kosofsky, Barry, Yohay, Kaleb, Ballon, Douglas, Dyke, Jonathan, Kaminsky, Stephen M., Hackett, Neil R., and Crystal, Ronald G. (2012) Long-term expression and safety of administration of AAVrh.10hCLN2 to the brain of rats and nonhuman primates for the treatment of late infantile neuronal ceroid lipofuscinosis. Human Gene Therapy Methods, 23 (5). pp. 324-335.

T

Tong, A., Tunnicliffe, David J., Lopez-Vargas, Pamela, Mallett, Andrew, Patel, Chirag, Savige, Judy, Campbell, Katrina, Patel, Manish, Tchan, Michel C., Alexander, Stephen I., Lee, Vincent, Craig, Jonathan C., Fassett, Robert, and Rangan, Gopala K. (2016) Identifying and integrating consumer perspectives in clinical practice guidelines on autosomal-dominant polycystic kidney disease. Nephrology, 21 (2). pp. 122-32.

Togo, Yumiko , Takahashi, Katsu, Saito, Kazuyuki, Kiso, Honoka, Huang, Boyen, Tsukamoto, Hiroko, Hyon, Suong-Hyu, and Bessho, Kazuhisa (2013) Aldehyded dextran and ε-poly(l-lysine) hydrogel as nonviral gene carrier. Stem Cells International, 2013. 634379. pp. 1-5.

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.

Travaglini, Lorena, Brancati, Francesco., Attie-Bitach, Tania, Audollent, Sophie, Bertini, Enrico, Kaplan, Josseline, Perrault, Isabelle, Iannicelli, Miriam, Mancuso, Brunella, Rigoli, Luciana, Rozet, Jean-Michel, Swistun, Dominika, Tolentino, Jerlyn, Dallapiccola, Bruno, Gleeson, Joseph G., Valente, Enza Maria, Zankl, A., Leventer, R., Grattan-Smith, P., Janecke, A., D'Hooghe, M., Sznajer, Y., Van Coster, R., Demerleir, L., Dias, K., Moco, C., Moreira, A., Ae Kim, C., Maegawa, G., Petkovic, D., Abdel-Salam, G.M.H., Abdel-Aleem, A., Zaki, M.S., Marti, I., Quijano-Roy, S., Sigaudy, S., De Lonlay, P., Romano, S., Touraine, R., Koenig, M., Lagier-Tourenne, C., Messer, J., Collignon, P., Wolf, N., Philippi, H., Kitsiou Tzeli, S., Halldorsson, S., Johannsdottir, J., Ludvigsson, P., Phadke, S.R., Udani, V., Stuart, B., Magee, A., Lev, D., Michelson, M., Ben-Zeev, B., Fischetto, R., Benedicenti, F., Stanzial, F., Borgatti, R., Accorsi, P., Battaglia, S., Fazzi, E., Giordano, L., Pinelli, L., Boccone, L., Bigoni, S., Ferlini, A., Donati, M.A., Caridi, G., Divizia, M.T., Faravelli, F., Ghiggeri, G., Pessagno, A., Briguglio, M., Briuglia, S., Salpietro, C.D., Tortorella, G., Adami, A., Castorina, P., Lalatta, F., Marra, G., Riva, D., Scelsa, B., Spaccini, L., Uziel, G., Del Giudice, E., Laverda, A.M., Ludwig, K., Permunian, A., Suppiej, A., Signorini, S., Uggetti, C., Battini, R., Di Giacomo, M., Cilio, M.R., Di Sabato, M.L., Leuzzi, V., Parisi, P., Pollazzon, M., Silengo, M., De Vescovi, R., Greco, D., Romano, C., Cazzagon, M., Simonati, A., Al-Tawari, A.A., Bastaki, L., Megabane, A., Sabolic Avramovska, V., De Jong, M.M., Stromme, P., Koul, R., Rajab, A., Azam, M., Barbot, C., Martorell Sampol, L., Rodriguez, B., Pascual-Castroviejo, I, Teber, S., Anlar, B., Comu, S., Karaca, E., Kayserili, H., Yuksel, A., Akcakus, M., Al Gazali, L., Sztriha, L., Nicholl, D., Woods, C.G., Bennett, Craig, Hurst, J., Sheridan, E., Barnicoat, A., Hennekam, R., Lees, M., Blair, E., Bernes, S., Sanchez, H., Clark, A.E., DeMarco, E., Donahue, C., Sherr, E., Hahn, J., Sanger, T.D., Gallager, T.E., Dobyns, W.B., Daugherty, C., Krishnamoorthy, K.S., Sarco, D., Walsh, C.A., McKanna, T., Milisa, J., Chung, W.K., De Vivo, D.C., Raynes, H., Schubert, R., Seward, A., Brooks, D.G., Goldstein, A., Caldwell, J., Finsecke, E., Maria, B.L., Holden, K., Cruse, R.P., Swoboda, K.J., and Viskochil, D. (2009) Expanding CEP290 mutational spectrumin ciliopathies. American Journal of Medical Genetics: Part A, 149 (10). pp. 2173-2180.

Towner, Rheal A., Hashimoto, Hisanori, and Summers, Phillip M. (2000) Non-invasive in vivo magnetic resonance imaging assessment of acute aflatoxin B1 hepatotoxicity in rats. Biochimica et Biophysica Acta, 1475 (3). pp. 314-320.

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

Warren, William D., and Gorringe, Kylie L. (2006) A molecular model for sporadic human aneuploidy. Trends in Genetics, 22 (4). pp. 218-224.

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.

Woodman, B.F., Jordan, M.A., Moller, L.I., Cartwright, J.D., and De Ravel, T.J.L. (1995) The Pallister-Killian syndrome in an African individual. Genetic Counseling, 6 (1). pp. 33-36.

Z

Zhu, Hong, Guariglia, Sara, Yu, Raymond Y.L., Li, Wenjing, Brancho, Deborah, Peinado, Hector, Lyden, David, Salzer, James, Bennett, Craig, and Chow, Chi-Wing (2013) Mutation of SIMPLE in Charcot-Marie-Tooth 1C alters production of exosomes. Molecular Biology of the Cell, 24 (11). pp. 1619-1637.