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McGaughran, Julie, Sinnott, Stephen, Susman, Rachel, Buckley, Michael F., Elakis, George, Cox, Timothy and Roscioli, Tony (2006) A case of Beare-Stevenson syndrome with a broad spectrum of features and a review of the FGFR2 Y375C mutation phenotype. Clinical Dysmorphology, 15 2: 89-93. doi:10.1097/01.mcd.0000194407.92676.9d 147   13 Cited 14 times in Scopus14 0
Ingles, Jodie, McGaughran, Julie, Scuffham, Paul A., Atherton, John and Semsarian, Christopher (2012) A cost-effectiveness model of genetic testing for the evaluation of families with hypertrophic cardiomyopathy. Heart, 98 8: 625-630. doi:10.1136/heartjnl-2011-300368 53   20 Cited 28 times in Scopus28 3
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 22   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
Wall, Nerilee and McGaughran, Julie (2012) A second case of contractures, webbed neck, micrognathia, hypoplastic nipples, and distinctive facial features: Confirmation of the Dinno syndrome. American Journal of Medical Genetics. Part A, 158A 4: 836-838. doi:10.1002/ajmg.a.35224 46   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 86   5 Cited 4 times in Scopus4 0
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
Camuglia, Anthony C., Younger, John F., McGaughran, Julie, Lo, Ada and Atherton, John J. (2013) Cardiac myosin-binding protein C gene mutation expressed as hypertrophic cardiomyopathy and left ventricular noncompaction within two families: Insights from cardiac magnetic resonance in clinical screening Camuglia MYBPC3 gene mutation and MRI. International Journal of Cardiology, 168 3: 2950-2952. doi:10.1016/j.ijcard.2013.03.168 12   3 Cited 3 times in Scopus3 0
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   6 Cited 8 times in Scopus8 1
Starokadomskyy, Petro, Gluck, Nathan, Li, Haiying, Chen, Baozhi, Wallis, Mathew, Maine, Gabriel N., Mao, Xicheng, Zaidi, Iram W., Hein, Marco Y., McDonald, Fiona J., Lenzner, Steffen, Zecha, Agnes, Ropers, Hans-Hilger, Kuss, Andreas W., McGaughran, Julie, Gecz, Jozef and Burstein, Ezra (2013) CCDC22 deficiency in humans blunts activation of proinflammatory NF-kappa B signaling. Journal of Clinical Investigation, 123 5: 2244-2256. doi:10.1172/JCI66466 14   8 Cited 9 times in Scopus9 10
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 23   344 Cited 429 times in Scopus429 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
Ingles, Jodie, Sarina, Tanya, Yeates, Laura, Hunt, Lauren, Macciocca, Ivan, Mccormack, Louise, Winship, Ingrid, McGaughran, Julie, Atherton, John and Semsarian, Christopher (2013) Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy. Genetics in Medicine, 15 12: 972-977. doi:10.1038/gim.2013.44 20   8 Cited 8 times in Scopus8 5
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 17   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   74 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
Allanson, Judith E., Cunniff, Christopher, Hoyme, H. Eugene, McGaughran, Julie, Muenke, Max and Neri, Giovanni (2009) Elements of morphology: Standard terminology for the head and face. American Journal of Medical Genetics Part A, 149 1: 6-28. doi:10.1002/ajmg.a.32612 33   38 Cited 41 times in Scopus41 3
Ingles, Jodie, McGaughran, Julie, Vohra, Jitendra, Weintraub, Robert G., Davis, Andrew, Atherton, John and Semsarian, Christopher (2008) Establishment of an Australian National Genetic Heart Disease Registry. Heart Lung and Circulation, 17 6: 463-467. doi:10.1016/j.hlc.2008.05.603 54   9 Cited 10 times in Scopus10 0
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   60 Cited 69 times in Scopus69 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, Jodie, Yeates, Laura, O'Brien, Lisa, McGaughran, Julie, Scuffham, Paul A., Atherton, John and Semsarian, Christopher (2012) Genetic testing for inherited heart diseases: Longitudinal impact on health-related quality of life. Genetics in Medicine, 14 8: 749-752. doi:10.1038/gim.2012.47 51 3 3 Cited 3 times in Scopus3 1
Ingles, Jodie, Yeates, Laura, Hunt, Lauren, McGaughran, Julie, Scuffham, Paul A., Atherton, John and Semsarian, Christopher (2011) Health status of cardiac genetic disease patients and their at-risk relatives. International Journal of Cardiology, 165 3: 448-453. doi:10.1016/j.ijcard.2011.08.083 43   9 Cited 9 times in Scopus9 4
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 108   4 Cited 5 times in Scopus5 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
Tan, Yen Y., McGaughran, Julie, Ferguson, Kaltin, Walsh, Michael D., Buchanan, Daniel D., Young, Joanne P., Webb, Penelope M., Obermair, Andreas and Spurdle, Amanda B. (2013) Improving identification of lynch syndrome patients: A comparison of research data with clinical records. International Journal of Cancer, 132 12: 2876-2883. doi:10.1002/ijc.27978 43   4 Cited 5 times in Scopus5 5
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 24   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 22   2 0
Chambers, Daniel Charles, Clarke, Belinda Edith, McGaughran, Julie and Garcia, Christine Kim (2012) Lung fibrosis, premature graying, and macrocytosis. American Journal of Respiratory and Critical Care Medicine, 186 5: e8-e9. doi:10.1164/rccm.201112-2175IM 57 2 Cited 6 times in Scopus6 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   348 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
So, Joyce, Suckow, Vanessa, Kijas, Zofia, Kalscheuer, Vera, Moser, Bettina, Winter, Jennifer, Baars, Marieke, Firth, Helen, Lunt, Peter, Hamel, Ben, Meinecke, Peter, Moraine, Claude, Odent, Sylvie, Schinzel, Albert, van der Smagt, J. J., Devriendt, Koen, Albrecht, Beate, Gillessen-Kaesbach, Gabriele, van der Burgt, Ineke, Petrij, Fred, Faivre, Laurence, McGaughran, Julie, McKenzie, Fiona, Opitz, John M., Cox, Timothy and Schweiger, Susann (2005) Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations. American Journal of Medical Genetics Part A, 132A 1: 1-7. doi:10.1002/ajmg.a.30407 66   33 Cited 32 times in Scopus32 0
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
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. 32   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
Tassabehji, May, Fang, Zhi Ming, Hilton, Emma N., McGaughran, Julie, Zhao, Zhongming, de Bock, Charles E., Howard, Emma, Malass, Michael, Donnai, Dian, Diwan, Ashish, Manson, Forbes D.C., Murrell, Dédée and Clarke, Raymond A. (2008) Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. Human Mutation, 29 8: 1017-1027. doi:10.1002/humu.20741 34   48 Cited 56 times in Scopus56 3
Simons Cas, Rash, Lachlan D., Crawford, Joanna, Ma, Linlin, Cristofori-Armstrong, Ben, Miller, David, Ru, Kelin, Baillie, Gregory J., Alanay, Yasemin, Jacquinet, Adeline, Debray, François-Guillaume, Verloes, Alain, Shen, Joseph, Yesil, Gözde, Guler, Serhat, Yuksel, Adnan, Cleary, John G., Grimmond, Sean M., McGaughran, Julie, King, Glenn F., Gabbett, Michael T. and Taft, Ryan J. (2014) Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy. Nature Genetics, 47 1: 73-+. doi:10.1038/ng.3153 67   2 Cited 1 times in Scopus1 57
McGaughran, Julie, Stevens, Rebecca, Blond, Adam and Perry, Christopher (2009) Nasal encephalocele in a child with mosaic trisomy 14. Clinical Dysmorphology, 18 3: 164-165. doi:10.1097/MCD.0b013e32832921b9 44   1 Cited 2 times in Scopus2 0
Matthew C. Keller, Allan F. McRae, Julie M. McGaughran, Peter M. Visscher, Nicholas G. Martin and Grant W. Montgomery (2009) Non-pathological paternal isodisomy of chromosome 2 detected from a genome-wide SNP scan.. American Journal of Medical Genetics. Part A, 149A 8: 1823-1826. doi:10.1002/ajmg.a.32973 58   2 Cited 2 times in Scopus2 0
McGaughran, Julie, Sidhu, Mayenaaz and Jessop, Melissa (2012) Pleural malignancy in a 22-year-old female with a chromosome 22q13 deletion. American Journal of Medical Genetics, Part A, 158A 9: 2362-2363. doi:10.1002/ajmg.a.35501 19   0 Cited 0 times in Scopus0 0
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 23   135 3

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