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Article

Blackburn, AN, Blondell, L, Kos, MZ, Blackburn, NB ORCID: 0000-0002-9774-1539, Peralta, JM, Stevens, PT, Lehman, DM, Blangero, J and Goring, HHH 2020 , 'Genotype phasing in pedigrees using whole-genome sequence data' , European Journal of Human Genetics, vol. 28, no. 6 , pp. 790-803 , doi: https://doi.org/10.1038/s41431-020-0574-3.

Blackburn, NB ORCID: 0000-0002-9774-1539, Leandro, AC, Nahvi, N, Devlin, MA, Leandro, M, Martinez Escobedo, I, Peralta Fernandez, JM, George, J, Stacy, BA, deMaar, TW, Blangero, J, Keniry, M and Curran, JE 2021 , 'Transcriptomic profiling of fibropapillomatosis in green sea turtles (Chelonia mydas) from south Texas' , Frontiers in Immunology, vol. 12 , pp. 1-16 , doi: https://doi.org/10.3389/fimmu.2021.630988.

Blackburn, NB ORCID: 0000-0002-9774-1539, Leandro, AC, Nahvi, N, Devlin, MA, Leandro, M, Martinez Escobedo, I, Peralta Fernandez, JM, George, J, Stacy, BA, deMaar, TW, Blangero, J, Keniry, M and Curran, JE 2021 , 'Transcriptomic profiling of fibropapillomatosis in green sea turtles (Chelonia mydas) from south Texas' , Frontiers in Immunology, vol. 12 , pp. 1-16 , doi: https://doi.org/10.3389/fimmu.2021.630988.

Blackburn, NB, Marthick, JR, Banks, A, Charlesworth, JC ORCID: 0000-0001-6201-3518, Marsden, KA, Lowenthal, RM, Blangero, J and Dickinson, JL ORCID: 0000-0003-4621-1703 2017 , 'Evaluating a CLL susceptibility variant in ITGB2 in families with multiple sub-types of hematological malignancies' , Blood, vol. 130, no. 1 , pp. 86-88 , doi: https://doi.org/10.1182/blood-2017-03-774232.

Blackburn, NB ORCID: 0000-0002-9774-1539, Marthick, JR, Banks, A, Charlesworth, JC ORCID: 0000-0001-6201-3518, Marsden, KA, Lowenthal, RM, Blangero, J and Dickinson, JL ORCID: 0000-0003-4621-1703 2017 , 'Evaluating a CLL susceptibility variant in ITGB2 in families with multiple sub-types of hematological malignancies' , Blood, vol. 130, no. 1 , pp. 86-88 , doi: https://doi.org/10.1182/blood-2017-03-774232.

Blackburn, NB ORCID: 0000-0002-9774-1539, Meikle, PJ, Peralta, JM, Kumar, S, Leandro, AC, Bellinger, MA, Giles, C, Huynh, K, Mahaney, MC, Goring, HHH, VandeBerg, JL, Williams-Blangero, S, Glahn, DC, Duggirala, R, Blangero, J, Michael, LF and Curran, JE 2021 , 'Identifying the lipidomic effects of a rare loss-of-function deletion in ANGPTL3' , Circulation. Genomic and Precision Medicine , doi: https://doi.org/10.1161/CIRCGEN.120.003232.

Blackburn, NB, Michael, LF, Meikle, PJ, Peralta, JM, Mosior, M, McAhren, S, Bui, HH, Bellinger, MA, Giles, C, Kumar, S, Leandro, AC, Almeida, M, Weir, JM, Mahaney, MC, Dyer, TD, Almasy, L, VandeBerg, JL, Williams-Blangero, S, Glahn, DC, Duggirala, R, Kowala, M, Blangero, J and Curran, JE 2019 , 'Rare DEGS1 variant significantly alters de novo ceramide synthesis pathway' , Journal of Lipid Research, vol. 60, no. 9 , pp. 1630-1639 , doi: https://doi.org/10.1194/jlr.P094433.

Blackburn, NB ORCID: 0000-0002-9774-1539, Michael, LF, Meikle, PJ, Peralta, JM, Mosior, M, McAhren, S, Bui, HH, Bellinger, MA, Giles, C, Kumar, S, Leandro, AC, Almeida, M, Weir, JM, Mahaney, MC, Dyer, TD, Almasy, L, VandeBerg, JL, Williams-Blangero, S, Glahn, DC, Duggirala, R, Kowala, M, Blangero, J and Curran, JE 2019 , 'Rare DEGS1 variant significantly alters de novo ceramide synthesis pathway' , Journal of Lipid Research, vol. 60, no. 9 , pp. 1630-1639 , doi: https://doi.org/10.1194/jlr.P094433.

Blackburn, NB ORCID: 0000-0002-9774-1539, Porto, A, Peralta, JM and Blangero, J 2018 , 'Heritability and genetic associations of triglyceride and HDL-C levels using pedigree-based and empirical kinships' , BMC Proceedings, vol. 12, no. Suppl , pp. 129-258 , doi: https://doi.org/10.1186/s12919-018-0133-x.

FitzGerald, LM ORCID: 0000-0002-6882-2698, Raspin, K ORCID: 0000-0001-8463-6820, Marthick, JR, Field, MA, Malley, RC ORCID: 0000-0002-3289-5270, Thomson, RJ, Blackburn, NB, Banks, A, Charlesworth, JC ORCID: 0000-0001-6201-3518, Donovan, S and Dickinson, JL ORCID: 0000-0003-4621-1703 2017 , 'Impact of the G84E variant on HOXB13 gene and protein expression in formalin-fixed, paraffin-embedded prostate tumours' , Scientific Reports, vol. 7, no. 1 , pp. 1-9 , doi: https://doi.org/10.1038/s41598-017-18217-w.

Flies, AS ORCID: 0000-0002-4550-1859, Blackburn, NB, Lyons, AB ORCID: 0000-0002-8508-5853, Hayball, JD and Woods, GM ORCID: 0000-0001-8421-7917 2017 , 'Comparative analysis of immune checkpoint molecules and their potential role in the transmissible Tasmanian Devil facial tumor disease' , Frontiers in Immunology, vol. 8 , pp. 1-27 , doi: https://doi.org/10.3389/fimmu.2017.00513.

Glahn, DC, Nimgaonkar, VL, Raventos, H, Contreras, J, McIntosh, AM, Thomson, PA, Jablensky, A, McCarthy, NS, Charlesworth, JC ORCID: 0000-0001-6201-3518, Blackburn, NB, Peralta, JM, Knowles, EEM, Mathias, SR, Ament, SA, McMahon, FJ, Gur, RC, Bucan, M, Curran, JE, Almasy, L, Gur, RE and Blangero, J 2018 , 'Rediscovering the value of families for psychiatric genetics research' , Molecular Psychiatry , pp. 1-13 , doi: https://doi.org/10.1038/s41380-018-0073-x.

Hansen, RL, Safabakhsh, S, Curtis, JM, Hsueh, W-C, Jones, LI, Aflague, TF, Duenas Sarmiento, J, Kumar, S, Blackburn, NB ORCID: 0000-0002-9774-1539, Curran, JE, Mahkee, D, Baier, LJ, Knowler, WC and Nelson, RG 2019 , 'Association of CREBRF variants with obesity and diabetes in Pacific Islanders from Guam and Saipan' , Diabetologia, vol. 62, no. 9 , pp. 1647-1652 , doi: https://doi.org/10.1007/s00125-019-4932-z.

Hansen, RL, Safabakhsh, S, Curtis, JM, Hsueh, W-C, Jones, LI, Aflague, TF, Duenas Sarmiento, J, Kumar, S, Blackburn, NB ORCID: 0000-0002-9774-1539, Curran, JE, Mahkee, D, Baier, LJ, Knowler, WC and Nelson, RG 2019 , 'Association of CREBRF variants with obesity and diabetes in Pacific Islanders from Guam and Saipan' , Diabetologia, vol. 62, no. 9 , pp. 1647-1652 , doi: https://doi.org/10.1007/s00125-019-4932-z.

Johnson, MP, Keyho, R, Blackburn, NB, Laston, S, Kumar, S, Peralta, J, Thapa, SS, Towne, B, Subedi, J, Blangero, J and Williams-Blangero, S 2019 , 'Glycated serum protein genetics and pleiotropy with cardiometabolic risk factors' , Journal of Diabetes Research , pp. 1-9 , doi: https://doi.org/10.1155/2019/2310235.

Johnson, MP, Keyho, R, Blackburn, NB ORCID: 0000-0002-9774-1539, Laston, S, Kumar, S, Peralta, J, Thapa, SS, Towne, B, Subedi, J, Blangero, J and Williams-Blangero, S 2019 , 'Glycated serum protein genetics and pleiotropy with cardiometabolic risk factors' , Journal of Diabetes Research, vol. 2019 , pp. 1-9 , doi: https://doi.org/10.1155/2019/2310235.

Lucas, SE ORCID: 0000-0003-0104-5406, Zhou, T, Blackburn, NB ORCID: 0000-0002-9774-1539, Mills, RA, Ellis, J, Leo, P, Souzeau, E, Ridge, B, Charlesworth, JC ORCID: 0000-0001-6201-3518, Brown, MA, Lindsay, RC, Craig, JE and Burdon, KP ORCID: 0000-0001-8217-1249 2017 , 'Rare, potentially pathogenic variants in ZNF469 are not enriched in keratoconus in a large Australian cohort of European descent' , Investigative Ophthalmology and Visual Science (Iovs), vol. 58, no. 14 , pp. 6248-6256 , doi: https://doi.org/10.1167/iovs.17-22417.

Lucas, SE ORCID: 0000-0003-0104-5406, Zhou, T, Blackburn, NB ORCID: 0000-0002-9774-1539, Mills, RA, Ellis, J, Leo, P, Souzeau, E, Ridge, B, Charlesworth, JC ORCID: 0000-0001-6201-3518, Lindsay, R, Craig, JE and Burdon, KP ORCID: 0000-0001-8217-1249 2018 , 'Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent' , PLoS One, vol. 13, no. 6 , pp. 1-15 , doi: https://doi.org/10.1371/journal.pone.0199178.

Lucas, SEM ORCID: 0000-0003-0104-5406, Zhou, T, Blackburn, NB, Mills, RA, Ellis, J, Leo, P, Souzeau, E, Ridge, B, Charlesworth, JC ORCID: 0000-0001-6201-3518, Brown, MA, Lindsay, RC, Craig, JE and Burdon, KP ORCID: 0000-0001-8217-1249 2017 , 'Rare, potentially pathogenic variants in ZNF469 are not enriched in keratoconus in a large Australian cohort of European descent' , Investigative Ophthalmology and Visual Science (Iovs), vol. 58, no. 14 , pp. 6248-6256 , doi: https://doi.org/10.1167/iovs.17-22417.

Lucas, SEM ORCID: 0000-0003-0104-5406, Zhou, T, Blackburn, NB, Mills, RA, Ellis, J, Leo, P, Souzeau, E, Ridge, B, Charlesworth, JC ORCID: 0000-0001-6201-3518, Lindsay, R, Craig, JE and Burdon, KP ORCID: 0000-0001-8217-1249 2018 , 'Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent' , PLoS One, vol. 13, no. 6 , pp. 1-15 , doi: https://doi.org/10.1371/journal.pone.0199178.

Marthick, JR, Raspin, K ORCID: 0000-0001-8463-6820, Foley, GR, Blackburn, NB ORCID: 0000-0002-9774-1539, Banks, A, Donovan, S, Malley, RC ORCID: 0000-0002-3289-5270, Field, MA, Stanford, JL, Ostrander, EA, FitzGerald, LM ORCID: 0000-0002-6882-2698 and Dickinson, JL ORCID: 0000-0003-4621-1703 2021 , 'Massively parallel sequencing in hereditary prostate cancer families reveals a rare risk variant in the DNA repair gene, RAD51C' , European Journal of Cancer, vol. 159 , pp. 52-55 , doi: https://doi.org/10.1016/j.ejca.2021.09.038.

Marthick, JR, Raspin, K ORCID: 0000-0001-8463-6820, Foley, GR, Blackburn, NB ORCID: 0000-0002-9774-1539, Banks, A, Donovan, S, Malley, RC ORCID: 0000-0002-3289-5270, Field, MA, Stanford, JL, Ostrander, EA, Fitzgerald, LM ORCID: 0000-0002-6882-2698 and Dickinson, JL ORCID: 0000-0003-4621-1703 2021 , 'Massively parallel sequencing in hereditary prostate cancer families reveals a rare risk variant in the DNA repair gene, RAD51C' , European Journal of Cancer, vol. 159 , pp. 52-55 , doi: https://doi.org/10.1016/j.ejca.2021.09.038.

Patchett, AL ORCID: 0000-0002-8424-4680, Tovar, C ORCID: 0000-0001-9555-2489, Blackburn, NB ORCID: 0000-0002-9774-1539, Woods, GM ORCID: 0000-0001-8421-7917 and Lyons, AB ORCID: 0000-0002-8508-5853 2021 , 'Mesenchymal plasticity of devil facial tumour cells during in vivo vaccine and immunotherapy trials' , Immunology and Cell Biology , pp. 1-13 , doi: https://doi.org/10.1111/imcb.12451.

Peralta, JM, Blackburn, NB, Porto, A, Blangero, J and Charlesworth, J ORCID: 0000-0001-6201-3518 2018 , 'Genome-wide linkage scan for loci influencing plasma triglyceride levels' , BMC Proceedings, vol. 12, no. Suppl , pp. 1-6 , doi: https://doi.org/10.1186/s12919-018-0137-6.

Porto, A, Peralta, JM, Blackburn, NB ORCID: 0000-0002-9774-1539 and Blangero, J 2018 , 'Reliability of genomic predictions of complex human phenotypes' , BMC Proceedings, vol. 12, no. Suppl , pp. 157-258 , doi: https://doi.org/10.1186/s12919-018-0138-5.

Sonderby, IE, Gustafsson, O, Doan, NT, Hibar, DP, Martin-Brevet, S, Abdellaoui, A, Ames, D, Amunts, K, Andersson, M, Armstrong, NJ, Bernard, M, Blackburn, NB ORCID: 0000-0002-9774-1539, Blangero, J, Boomsma, DI, Bralten, J, Brattbak, H-R, Brodaty, H, Brouwe, RM, Bulow, R, Calhoun, V, Caspers, S, Cavalleri, G, Chen, C-H, Cichon, S, Ciufolini, S, Corvin, A, Crespo-Facorro, B, Curran, JE, Dale, AM, Dalvie, S, Dazzan, P, de Geus, EJC, de Zubicaray, GI, de Zwarte, SMC, Delanty, N, den Braber, A, Desrivieres, S, Donohoe, G, Draganski, B, Ehrlich, S, Espeseth, T, Fisher, SE, Franke, B, Frouin, V, Fukunaga, M, Hashimoto, R, Hehir-Kwa, JY, Heinz, A, Hillegers, MHJ, Hoffmann, P, Holleran, L, Hottenga, J-J, Hulshoff, HE, Ikeda, M, Jahanshad, N, Jernigan, T, Jockwitz, C, Johansson, S, Jonsdottir, GA, Jonsson, EG, Kahn, R, Kaufmann, T, Kelly, S, Kikuchi, M, Knowles, EEM, Kolskar, KK, Kwok, JB, Le Hellard, S, Leu, C, Liu, J, Lundervold, AJ, Lundervold, A, Martin, NG, Mather, K, Mathias, SR, McCormack, M, McMahon, KL, McRae, A, Milaneschi, Y, Moreau, C, Morris, D, Mothersill, D, Muhleisen, TW, Murray, R, Nordvik, JE, Nyberg, L, Loohuis, LMO, Ophoff, R, Paus, T, Pausova, Z, Penninx, B, Peralta, JM, Pike, B, Prieto, C, Pudas, S, Quinlan, E, Quintana, DS, Reinbold, CS, Reis Marques, T, Reymond, A, Richard, G, Rodriguez-Herreros, B, Roiz-Santianez, R, Rokicki, J, Rucker, J, Sachdev, P, Sanders, A-M, Sando, SB, Schmaal, L, Schofield, PR, Schork, AJ, Schumann, G, Shin, J, Shumskaya, E, Sisodiya, S, Steen, VM, Stein, DJ, Steinberg, S, Strike, L, Teumer, A, Thalamuthu, A, Tordesillas-Gutierrez, D, Turner, J, Ueland, T, Uhlmann, A, Ulfarsson, MO, van 't En, D, van der Meer, D, van Haren, NEM, Vaskinn, A, Vassos, E, Walters, GB, Wang, Y, Wen, W, Whelan, CD, Wittfeld, K, Wright, M, Yamamori, H, Zayats, T, Agartz, I, Westlye, LT, Jacquemont, S, Djurovic, S, Stefansson, H, Stefansson, K, Thompson, P and Andreassen, OA 2020 , 'Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia' , Molecular Psychiatry, vol. 25, no. 3 , pp. 584-602 , doi: https://doi.org/10.1038/s41380-018-0118-1.

Tran, NK, Lea, RA, Holland, S, Nguyen, Q, Raghubar, AM, Sutherland, HG, Benton, MC, Haupt, LM, Blackburn, NB ORCID: 0000-0002-9774-1539, Curran, JE, Blangero, J, Mallett, AJ and Griffiths, LR 2021 , 'Multi-phenotype genome-wide association studies of the Norfolk Island isolate implicate pleiotropic loci involved in chronic kidney disease' , Scientific Reports, vol. 11 , doi: https://doi.org/10.1038/s41598-021-98935-4.

Yetsko, K, Farrell, JA, Blackburn, NB ORCID: 0000-0002-9774-1539, Whitmore, L, Stammnitz, MR, Whilde, J, Eastman, CB, Ramia, DR, Thomas, R, Krstic, A, Linser, P, Creer, S, Carvalho, G, Devlin, MA, Nahvi, N, Leandro, AC, deMaar, TW, Burkhalter, B, Murchison, EP, Schnitzler, C and Duffy, DJ 2021 , 'Molecular characterization of a marine turtle tumor epizootic, profiling external, internal and postsurgical regrowth tumors' , Communications Biology, vol. 4, no. 1 , pp. 1-16 , doi: https://doi.org/10.1038/s42003-021-01656-7.

van der Meer, D, Sonderby, IE, Kaufmann, T, Walters, GB, Abdellaoui, A, Ames, D, Amunts, K, Andersson, M, Armstrong, NJ, Bernard, M, Blackburn, NB ORCID: 0000-0002-9774-1539, Blangero, J, Boomsma, DI, Brodaty, H, Brouwer, RM, Bulow, R, Cahn, W, Calhoun, VD, Caspers, S, Cavalleri, GL, Ching, CRK, Cichon, S, Ciufolini, S, Corvin, A, Crespo-Facorro, B, Curran, JE, Dalvie, S, Dazzan, P, de Geus, EJC, de Zubicaray, GI, de Zwarte, SMC, Delanty, N, den Braber, A, Desrivieres, S, Di Forti, M, Doherty, JL, Donohoe, G, Ehrlich, S, Eising, E, Espeseth, T, Fisher, SE, Fladby, T, Frei, O, Frouin, V, Fukunaga, M, Gareau, T, Glahn, DC, Grabe, HJ, Groenewold, NA, Gustafsson, O, Haavik, J, Haberg, AK, Hashimoto, R, Hehir-Kwa, JY, Hibar, DP, Hillegers, MHJ, Hoffmann, P, Holleran, L, Hottenga, J-J, Hulshoff Pol, HE, Ikeda, M, Jacquemont, S, Jahanshad, N, Jockwitz, C, Johansson, S, Jonsson, EG, Kikuchi, M, Knowles, EEM, Kwok, JB, Le Hellard, S, Linden, DEJ, Liu, J, Lundervold, A, Lundervold, AJ, Martin, NG, Mather, KA, Mathias, SR, McMahon, KL, McRae, AF, Medland, SE, Moberget, T, Moreau, C, Morris, DW, Muhleisen, TW, Murray, RM, Nordvik, JE, Nyberg, L, Loohuis, LMO, Ophoff, RA, Owen, MJ, Paus, T, Pausova, Z, Peralta, JM, Pike, B, Prieto, C, Burke Quinlan, E, Reinbold, CS, Marques, TR, Rucker, JJH, Sachdev, PS, Sando, SB, Schofield, PR, Silva, AI, Sisodiya, SM, Steen, VM, Stein, DJ, Strike, LT, Tamnes, CK, Teumer, A, Thalamuthu, A, Tordesillas-Gutierrez, D, Uhlmann, A, Ulfarsson, MO, van 't Ent, D, van den Bree, MBM, Vassos, E, Wen, W, Wittfeld, K, Wright, MJ, Zayats, T, Dale, AM, Djurovic, S, Agartz, I, Westlye, LT, Stefansson, H, Stefansson, K, Thompson, PM and Andreassen, OA 2020 , 'Association of copy number variation of the 15q11.2 BP1-BP2 region with cortical and subcortical morphology and cognition' , JAMA Psychiatry, vol. 77, no. 4 , pp. 420-430 , doi: https://doi.org/10.1001/jamapsychiatry.2019.3779.

Thesis

Blackburn, NB 2015 , 'Identifying genetic susceptibilities underlying familial haematological malignancies in a Tasmanian family resource', PhD thesis, University of Tasmania.

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