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Ingles, J., McGaughran, J., Scuffham, P., Atherton, J. and Semsarian, C. (2011). A cost-effectiveness analysis of genetic testing in the evaluation of families with hypertrophic cardiomyopathy. In: Abstracts of the Annual Scientific Meeting of the Cardiac Society of Australia and New Zealand. Cardiac Society of Aust & N.Z. 59th Annual Scientific Meeting, Perth, Western Australia, (S4-S4). 11-14 August 2011. doi:10.1016/j.hlc.2011.05.010 41   0
McGaughran, J, Souter, DJ and Kuschel, CA (2001) Alveolar capillary dysplasia with antenatal anomalies mimicking trisomy 21. Journal of Paediatrics and Child Health, 37 1: 85-86. doi:10.1046/j.1440-1754.2001.00554.x 20   10 Cited 12 times in Scopus12 0
McGaughran, J (2001) Another case of preaxial polydactyly and white forelock in branchio-oculo-facial syndrome. Clinical Dysmorphology, 10 1: 67-68. doi:10.1097/00019605-200101000-00015 24   3 0
McGaughran, J, Moran, A and Evans, DGR (1997). A population-based study comparing sporadic malignant nerve sheath tumours to these occurring in association with neurofibromatosis type 1. In: Journal of Medical Genetics. , , (214-214). . 32   0
Engels, S, Kohlhase, J and McGaughran, J (2000) A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype. Journal of Medical Genetics, 37 6: 458-460. doi:10.1136/jmg.37.6.458 18   30 3
James, PA and McGaughran, J (2002) A severe case of oculo-ectodermal syndrome?. Clinical Dysmorphology, 11 3: 179-182. doi:10.1097/00019605-200207000-00005 15   6 0
McGaughran, J. and Atherton, J. (2010). Cardiac Genetics: the first 250 clinic patients. In: European Society of Human Genetics Conference, Gothenburg, Sweden, (). June 2010. 27  
McGaughran, J. and Atherton, J. (2010). Cardiac Genetics: the first 250 clinic patients at RBWH. In: World Congress of Internal Medicine 2010, Melbourme, VIC, Australia, (138-138). March 2010. 24  
McGaughran, J (2003) Cardio-facio-cutaneous syndrome: First presentation in a 52-year-old woman. American Journal of Medical Genetics Part a, 116A 2: 210-212. doi:10.1002/ajmg.a.10784 25   0 0
Voineagu, I., Huang, L., Winden, K., Lazaro, M., Haan, E., Nelson, J., McGaughran, J., Nguyen, L.S., Friend, K., Hackett, A., Field, M., Gecz, J. and Geschwind, D. (2012) CCDC22: a novel candidate gene for syndromic X-linked intellectual disability. Molecular Psychiatry, 17 1: 4-7. doi:10.1038/mp.2011.95 41   7 Cited 8 times in Scopus8 1
Trembath, RC, Thomson, JR, Machado, RD, Morgan, NV, Atkinson, C, Winship, I, Simonneau, G, Galie, N, Loyd, JE, Humbert, M, Nichols, WC, Morrell, NW, Berg, J, Manes, A, McGaughran, J, Pauciulo, M and Wheeler, L (2001) Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia. New England Journal of Medicine, 345 5: 325-334. doi:10.1056/NEJM200108023450503 24   344 Cited 432 times in Scopus432 3
McGaughran, J, Aftimos, S, Jefferies, C and Winship, I (2001) Clinical phenotypes of nine cases of Kabuki syndrome from New Zealand. Clinical Dysmorphology, 10 4: 257-262. doi:10.1097/00019605-200110000-00004 30   19 0
Kozlov, S., Mallett, A., Woods, R., Healy, H., Rowell, J., Mcgaughran, J. and Hyland, V. (2012). Clinical PKD1 sequencing in Queensland. In: 48th Annual Scientific Meeting of the Australian and New Zealand Society of Nephrology, Auckland, New Zealand, (51-51). 27-29 August 2012. doi:10.1111/j.1440-1797.2012.01632.x 27   0 1
McGaughran, J and Delaunoy, JP (2002) Coffin-Lowry syndrome in a patient from the cook islands confirmed by the presence of a unique mutation. American Journal of Medical Genetics, 113 3: 309-311. doi:10.1002/ajmg.10786 19   0 0
James, PA and McGaughran, J (2002) Complete overlap of PHACE syndrome and sternal malformation - Vascular dysplasia association. American Journal of Medical Genetics, 110 1: 78-84. doi:10.1002/ajmg.10398 27   26 Cited 26 times in Scopus26 0
Hegde, MR, Fawkner, M, Chong, B, McGaughran, J, Gilbert, D and Love, DR (2001) Compound heterozygosity at the FMR1 gene. Genetic Testing, 5 2: 135-138. doi:10.1089/109065701753145600 25   4 0
McGaughran, J, Rees, M and Battin, M (2002) Craniofrontonasal syndrome and diaphragmatic hernia. American Journal of Medical Genetics, 110 4: 391-392. doi:10.1002/ajmg.10176 15   10 Cited 10 times in Scopus10 0
Devriendt, K, Matthijs, G, Van Dael, R, Gewillig, M, Eyskens, B, Hjalgrim, H, Dolmer, B, McGaughran, J, Brondum-Nielsen, K, Marynen, P, Fryns, JP and Vermeesch, JR (1999) Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1. American Journal of Human Genetics, 64 4: 1119-1126. doi:10.1086/302330 24   75 Cited 78 times in Scopus78 0
McGaughran, J, Donnai, D, Clayton, P and Mills, K (1994) Diagnosis of Smith-Lemli-Opitz Syndrome. New England Journal of Medicine, 330 23: 1685-1686. 24   9
Kleefstra, T., van Zelst-Stams, W. A., Nillesen, W. M., Cormier-Daire, V., Houge, G., Foulds, N., van Dooren, M., Willemsen, M. H., Pfundt, R., Turner, A., Wilson, M., McGaughran, J., Rauch, A., Zenker, M., Adam, M. P., Innes, M., Davies, C., Lopez, A. Gonzalez-Meneses, Casalone, R., Weber, A., Brueton, L. A., Navarro, A. Delicado, Bralo, M. Palomares, Venselaar, H., Stegmann, S. P. A., Yntema, H. G., van Bokhoven, H. and Brunner, H. G. (2009) Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype. Journal of Medical Genetics, 46 9: 598-606. doi:10.1136/jmg.2008.062950 17   61 Cited 70 times in Scopus70 0
McGaughran, J and Donnai, D (1996) Geleophysic dysplasia and Myhre syndrome: Reply. American Journal of Medical Genetics, 65 4: 362-362. doi:10.1002/(SICI)1096-8628(19961111)65:4<362::AID-AJMG26>3.3.CO;2-Y 14   1 0
Ingles, J., Yeates, L., Connell, V., McGaughran, J., Davis, A., Vohra, J., Weintraub, R. G., Atherton, J. and Semsarian, C. (2008). Genetic testing for inherited heart diseases: The National Genetic Heart Disease Registry. In: Human Genetic Society of Australasia 32nd Annual Scientific Meeting, Glenelg, SA, Australia, (). August 2008. 23  
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
Ingles, J., Yeates, L., Hunt, L., McGaughran, J., Scuffham, P., Atherton, J. and Semsarian, C. (2011). Health status of cardiac genetic disease patients and their at-risk relatives. In: Abstracts for the Cardiac Society of Australia and New Zealand Annual Scientific Meeting and the International Society for Heart Research Australasian Section Annual Scientific Meeting. Cardiac Society of Aust & N.Z. 59th Annual Scientific Meeting, Perth, Western Australia, (S220-S220). 11-14 August 2011. doi:10.1016/j.hlc.2011.05.541 30   0
McGaughran, J. M., Kimble, R., Upton, J. and George, P. (2004) Hereditary pancreatitis in a family of Aboriginal descent. Journal of Paediatrics and Child Health, 40 8: 487-489. doi:10.1111/j.1440-1754.2004.00437.x 109   4 Cited 5 times in Scopus5 0
Phillips-Krawczak, C. A., Singla, A., Starokadomskyy, P., Deng, Z., Osborne, D. G., Li, H., Dick, C. J., Gomez, T. S., Koenecke, M., Zhang, J., Dai, H., Sifuentes-Dominguez, L. F., Geng, L. N., Kaufmann, S., Hein, M., Wallis, M., McGaughran, J., Gecz, J., van de Sluis, B., Billadeau, D. D. and Burstein, E. (2014). Identification of a Novel Complex Required for WASH-dependent Receptor Trafficking. In: Molecular Biology of the Cell. ASCB/IFCB Meeting, Philadelphia Pa, (). Dec 06-10, 2014. 10   0
Raizis, A, Clemett, R, Corbett, R, McGaughran, J, Evans, J and George, P (2002) Improved clinical management of retinoblastoma through gene testing. New Zealand Medical Journal, 115 1154: 231-234. 24   2
McGaughran, J (2004) Klippel-Feil anomaly and neural tube defects. American Journal of Medical Genetics Part a, 127A 3: 327-328. doi:10.1002/ajmg.a.20304 26   1 0
McGaughran, J (2003) Klippel-Feil anomaly in Fanconi anemia. Clinical Dysmorphology, 12 3: 197-197. doi:10.1097/01.mcd.0000077560.66911.1f 24   2 0
Evans, Dgr, Baser, ME, Friedman, JM, McGaughran, J, Timms, B and Moran, A (2001). Malignant peripheral nerve sheath tumors in neurofibromatosis 1.. In: American Journal of Human Genetics. , , (307-307). . 23   2
Evans, Dgr, Baser, ME, McGaughran, J, Sharif, S, Howard, E and Moran, A (2002) Malignant peripheral nerve sheath tumours in neurofibromatosis 1. Journal of Medical Genetics, 39 5: 311-314. doi:10.1136/jmg.39.5.311 21   350 3
Hegde, MR, Chong, B, Fawkner, M, Lambiris, N, Peters, H, Kenneson, A, Warren, ST, Love, DR and McGaughran, J (2001) Microdeletion in the FMR-1 gene: an apparent null allele using routine clinical PCR amplification. Journal of Medical Genetics, 38 9: 624-629. doi:10.1136/jmg.38.9.624 24   5 0
Stewart, H, Wallace, A, McGaughran, J, Mountford, R and Kingston, H (1998) Molecular diagnosis of spinal muscular atrophy. Archives of Disease in Childhood, 78 6: 531-535. 31   12
Turner, AM, Roscioli, T, Elakis, G, Taylor, PJ, Cox, T, Haan, E, Oley, C, McGaughran, J, Dixon, J, Edwards, M, Savarirayan, R, Gianoutsos, M, David, DJ, Buckley, MF and Pospisil, V (2003). Molecular testing for TWIST and FGFR1-3 mutations in a cohort of 153 craniofacial patients.. In: American Journal of Human Genetics. Annual Meeting of the American-Society-of-Human-Genetics, Los Angeles California, (212-212). Nov 04-08, 2003. 33   0
McGaughran, J (1999) MURCS in a male: a further case. Clinical Dysmorphology, 8 1: 77-77. doi:10.1097/00019605-199901000-00016 14   3 0
Polinkovsky, A, Robin, NH, Thomas, JT, Irons, M, Lynn, A, Goodman, FR, Reardon, W, Kant, SG, Brunner, HG, vanderBurgt, I, Chitayat, D, McGaughran, J, Donnai, D, Luyten, FP and Warman, ML (1997) Mutations in CDMP1 cause autosomal dominant brachydactyly type C. Nature Genetics, 17 1: 18-19. doi:10.1038/ng0997-18 19   174 3
Wuyts, W, VanHul, W, Wauters, J, Nemtsova, M, Reyniers, E, VanHul, E, DeBoulle, K, deVries, BBA, Hendrickx, J, Herrygers, I, Bossuyt, P, Balemans, W, Fransen, E, Vits, L, Coucke, P, Nowak, NJ, Shows, TB, Mallet, L, vandenOuweland, AMW, McGaughran, J, Halley, DJJ and Willems, PJ (1996) Positional cloning of a gene involved in hereditary multiple exostoses. Human Molecular Genetics, 5 10: 1547-1557. doi:10.1093/hmg/5.10.1547 24   135 3
James, PA, Gibson, K and McGaughran, J (2002) Prenatal diagnosis of mosaic trisomy 20 in New Zealand. Australian & New Zealand Journal of Obstetrics & Gynaecology, 42 5: 486-489. doi:10.1111/j.0004-8666.2002.00486.x 67   5 0
George, AM, Hallam, L, Oei, P and McGaughran, J (2002) Prenatal diagnosis of partial tetrasomy 14: a case study. Prenatal Diagnosis, 22 2: 127-130. doi:10.1002/pd.258 18   6 Cited 6 times in Scopus6 0
Dore, J and McGaughran, J (1997). Rubinstein Taybi - The Manchester Experience. In: Journal of Medical Genetics. , , (1201-1201). . 18   0
McGaughran, J and Aftimos, S (2002) Setleis syndrome: Three new cases and a review of the literature. American Journal of Medical Genetics, 111 4: 376-380. doi:10.1002/ajmg.10632 18   15 Cited 22 times in Scopus22 0
McGaughran, J, Moore, L, Russell, S and Donnai, D (1998) Syndactyly, micrognathia and skeletal anomalies: a new syndrome?. Clinical Dysmorphology, 7 2: 119-122. doi:10.1097/00019605-199804000-00007 29   0 0
Goodman, FR, Mundlos, S, Muragaki, Y, Donnai, D, GiovannucciUzielli, ML, Lapi, E, Majewski, F, McGaughran, J, McKeown, C, Reardon, W, Upton, J, Winter, RM, Olsen, BR and Schambler, PJ (1997) Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract. Proceedings of the National Academy of Sciences of the United States of America, 94 14: 7458-7463. doi:10.1073/pnas.94.14.7458 21   138 Cited 155 times in Scopus155 3
Ingles, J., Yeates, L., Kawa, J., Armstrong, C., Thompson, T., Connell, V., DeSilva, D., Davis, A., Weintraub, R., Vohra, J., Winship, I., McTaggart, D., McGaughran, J., Atherton, J. and Semsarian, C. (2011). The Australian National Genetic Heart Disease Registry: an update. In: Abstracts for the Cardiac Society of Australia and New Zealand Annual Scientific Meeting and the International Society for Heart Research Australasian Section Annual Scientific Meeting. Cardiac Society of Aust and NZ Annual Scientific Meeting, Perth, Western Australia, (S221-S221). 11-14 August 2011. doi:10.1016/j.hlc.2011.05.544 38   0
McGaughran, J. (2010) The future of clinical genetics. Internal Medicine Journal, 40 12: 867-867. doi:10.1111/j.1445-5994.2010.02345.x 20   1 Cited 1 times in Scopus1 0
Mallett, A., Patel, C., Mcgaughran, J. and Healy, H. (2014). The Initial Six Months of An Australian Renal Genetics Clinic Service. In: Nephrology. , , (74-74). . 18   0
Ingles, J., Sarina, T., Lau, T., McCormack, L., McGaughran, J., Atherton, J. and Semsarian, C. (2012). The key role of family history in predicting genetic testing outcomes in hypertrophic cardiomyopathy. In: Heart Rhythm Society‚Äôs 33rd Annual Scientific Sessions, Boston MA, (). 9-12 May 2012. 55  
Ingles, J., Yeates, L., Connell, V., McGaughran, J., Davis, A., Vohra, J., Weintraub, R. G., Atherton, J. and Semsarian, C. (2008). The National Genetic Heart Disease Registry. In: Abstracts of the Annual Scientific Meeting of the Cardiac Society of Australia and New Zealand. Cardiac Society of Aust & N.Z. 56th Annual Scientific Meeting, Adelaide Australia, (S83-S83). August 2008. doi:10.1016/j.hlc.2008.05.196 25   0
Ingles, J., Yeates, L., Hunt, L., Connell, V., Thompson, T., Macciocca, I., McGaughran, J., Davis, A., Weintraub, R., Vohra, J., Winship, I., McTaggart, D., Atherton, J. and Semsarian, C. (2010). The National Genetic Heart Disease Registry: An update. In: Abstracts of the Cardiac Society of Australia and New Zealand Annual Scientific Meeting. Cardiac Society of Aust & New Zealand 58th Annual Scientific Meeting, Adealide, SA, Australia, (S232-S232). August 2010. doi:10.1016/j.hlc.2010.06.561 27   0
Ingles, J., Yeates, L., Connell, V., Thompson, T., Cheng, J. M. M., Macciocca, I., McGaughran, J., Davis, A., Weintraub, R., Vohra, J., Winship, I., Atherton, J. and Semsarian, C. (2009). The National Genetic Heart Disease Registry: Progress to date. In: Cardiac Society of Australia & New Zealand 57th Annual Scientific Meeting, Sydney, Australia, (S82-S82). August 2009. doi:10.1016/j.hlc.2009.05.184 23   0

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