J
Julie McGaughran
Researcher at Royal Brisbane and Women's Hospital
Publications - 126
Citations - 6539
Julie McGaughran is an academic researcher from Royal Brisbane and Women's Hospital. The author has contributed to research in topics: Medicine & Gene. The author has an hindex of 34, co-authored 111 publications receiving 5688 citations. Previous affiliations of Julie McGaughran include Wenzhou Medical College & University of Antwerp.
Papers
More filters
Journal ArticleDOI
Malignant peripheral nerve sheath tumours in neurofibromatosis 1
TL;DR: The lifetime risk of MPNST in NF1 is much higher than previously estimated and warrants careful surveillance and a low threshold for investigation.
Journal ArticleDOI
Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia
Richard C. Trembath,Jennifer R. Thomson,Rajiv D. Machado,Neil V. Morgan,Carl Atkinson,Ingrid Winship,G. Simonneau,Nazzareno Galiè,James E. Loyd,Marc Humbert,William C. Nichols,Nicholas W. Morrell,Jonathan Berg,Alessandra Manes,Julie McGaughran,Michael W. Pauciulo,Lisa Wheeler +16 more
TL;DR: Pulmonary hypertension in association with hereditary hemorrhagic telangiectasia can involve mutations in ALK1, a member of the transforming growth factor beta (TGF-beta) superfamily of receptors, which is associated with diverse effects, including the vascular dilatation characteristic of hereditary hemorrhage.
Journal ArticleDOI
A Prospective Study of Sudden Cardiac Death among Children and Young Adults
Richard D. Bagnall,Robert G. Weintraub,Jodie Ingles,Jodie Ingles,Johan Duflou,Johan Duflou,Laura Yeates,Laura Yeates,Lien Lam,Andrew M. Davis,T. Thompson,V. Connell,Jennie Wallace,Charles Naylor,Jackie Crawford,Donald R. Love,Lavinia Hallam,Jodi White,Christopher Lawrence,Matthew J Lynch,Natalie Morgan,Paul A. James,Desirée du Sart,Rajesh Puranik,Rajesh Puranik,Neil E. I. Langlois,Jitendra K. Vohra,Ingrid Winship,John Atherton,Julie McGaughran,Jonathan R. Skinner,Christopher Semsarian,Christopher Semsarian +32 more
TL;DR: The addition of genetic testing to autopsy investigation substantially increased the identification of a possible cause of sudden cardiac death among children and young adults.
Journal ArticleDOI
Mutations in CDMP1 cause autosomal dominant brachydactyly type C
Journal ArticleDOI
Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract
FR Goodman,Stefan Mundlos,Y. Muragaki,Dian Donnai,Maria-Luisa Giovannucci-Uzielli,Elisabetta Lapi,Frank Majewski,Julie McGaughran,C McKeown,Willie Reardon,Joseph Upton,Robin M. Winter,Bjorn R. Olsen,Peter J. Scambler +13 more
TL;DR: The remarkable correlation between phenotype and expansion size suggests that expansion of the tract leads to a specific gain of function in the mutant HOXD13 protein, and has interesting implications for the role of polyalanine tracts in the control of transcription.