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Julie McGaughran
Julie McGaughran
Professor
Verified email at health.qld.gov.au
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Cited by
Cited by
Year
Malignant peripheral nerve sheath tumours in neurofibromatosis 1
DGR Evans, ME Baser, J McGaughran, S Sharif, E Howard, A Moran
Journal of medical genetics 39 (5), 311-314, 2002
13872002
Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia
RC Trembath, JR Thomson, RD Machado, NV Morgan, C Atkinson, ...
New England Journal of Medicine 345 (5), 325-334, 2001
9012001
A prospective study of sudden cardiac death among children and young adults
RD Bagnall, RG Weintraub, J Ingles, J Duflou, L Yeates, L Lam, AM Davis, ...
New England Journal of Medicine 374 (25), 2441-2452, 2016
7792016
Mutations in CDMP1 cause autosomal dominant brachydactyly type C
A Polinkovsky, NH Robin, JT Thomas, M Irons, A Lynn, FR Goodman, ...
Nature genetics 17 (1), 18-19, 1997
2961997
Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract
FR Goodman, S Mundlos, Y Muragaki, D Donnai, ML Giovannucci-Uzielli, ...
Proceedings of the National Academy of Sciences 94 (14), 7458-7463, 1997
2611997
Positional cloning of a gene involved in hereditary multiple exostoses
W Wuyts, W Van Hul, J Wauters, M Nemtsova, E Reyniers, E Van Hul, ...
Human molecular genetics 5 (10), 1547-1557, 1996
2481996
A clinical study of type 1 neurofibromatosis in north west England
JM McGaughran, DI Harris, D Donnai, D Teare, R MacLeod, ...
Journal of medical genetics 36 (3), 197-203, 1999
2451999
Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype
T Kleefstra, WA van Zelst-Stams, WM Nillesen, V Cormier-Daire, G Houge, ...
Journal of medical genetics 46 (9), 598-606, 2009
2362009
Elements of morphology: standard terminology for the head and face
JE Allanson, C Cunniff, HE Hoyme, J McGaughran, M Muenke, G Neri
American Journal of Medical Genetics Part A 149 (1), 6-28, 2009
2222009
Mutations in GDF6 are associated with vertebral segmentation defects in Klippel‐Feil syndrome
M Tassabehji, ZM Fang, EN Hilton, J McGaughran, Z Zhao, CE de Bock, ...
Human mutation 29 (8), 1017-1027, 2008
2152008
COMMD1 is linked to the WASH complex and regulates endosomal trafficking of the copper transporter ATP7A
CA Phillips-Krawczak, A Singla, P Starokadomskyy, Z Deng, DG Osborne, ...
Molecular biology of the cell 26 (1), 91-103, 2015
2102015
CCC-and WASH-mediated endosomal sorting of LDLR is required for normal clearance of circulating LDL
P Bartuzi, DD Billadeau, R Favier, S Rong, D Dekker, A Fedoseienko, ...
Nature communications 7 (1), 1-11, 2016
1922016
A cost-effectiveness model of genetic testing for the evaluation of families with hypertrophic cardiomyopathy
J Ingles, J McGaughran, PA Scuffham, J Atherton, C Semsarian
Heart 98 (8), 625-630, 2012
1622012
Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy
C Simons, LD Rash, J Crawford, L Ma, B Cristofori-Armstrong, D Miller, ...
Nature genetics 47 (1), 73-77, 2015
1482015
Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23. 1
K Devriendt, G Matthijs, R Van Dael, M Gewillig, B Eyskens, H Hjalgrim, ...
The American Journal of Human Genetics 64 (4), 1119-1126, 1999
1441999
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21. 31 microdeletion versus a KANSL1 sequence variant
DA Koolen, R Pfundt, K Linda, G Beunders, HE Veenstra-Knol, JH Conta, ...
European Journal of Human Genetics 24 (5), 652-659, 2016
1432016
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations
JJ Johnston, JC Sapp, JT Turner, D Amor, S Aftimos, KA Aleck, M Bocian, ...
Human mutation 31 (10), 1142-1154, 2010
1422010
Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy
J Ingles, T Sarina, L Yeates, L Hunt, I Macciocca, L McCormack, I Winship, ...
Genetics in Medicine 15 (12), 972-977, 2013
1332013
Mutations in PAX1 may be associated with Klippel–Feil syndrome
JM McGaughran, A Oates, D Donnai, AP Read, M Tassabehji
European journal of human genetics 11 (6), 468-474, 2003
1332003
Antisense‐mediated exon skipping: a therapeutic strategy for titin‐based dilated cardiomyopathy
M Gramlich, LS Pane, Q Zhou, Z Chen, M Murgia, S Schötterl, A Goedel, ...
EMBO molecular medicine 7 (5), 562-576, 2015
1222015
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