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Julie McGaughran | Researchclopedia

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Julie McGaughran

Queensland Health ORCID

191

Works

7,225

Citations

42

h-index

87

i10-index

Research Topics

Cardiomyopathy and Myosin Studies Genomics and Rare Diseases Cardiovascular Effects of Exercise

Affiliations

Fundación Juan March2001–2001

University of Sydney2008–2008

Queensland Health2011–2025

Royal Children's Hospital2003–2023

Hudson Institute2022–2022

Top Works

A Prospective Study of Sudden Cardiac Death among Children and Young Adults

Richard D. Bagnall,Robert G. Weintraub,et al.

2016816 citations

Genomic variations and chromosomal abnormalities

Congenital heart defects research

Clinical and Molecular Genetic Features of Pulmonary Hypertension in Patients with Hereditary Hemorrhagic Telangiectasia

Richard C. Trembath,Jennifer R. Thomson,et al.

2001720 citations

Mutations in CDMP1 cause autosomal dominant brachydactyly type C

Alexander Polinkovsky,Nathaniel H. Robin,et al.

1997261 citations

Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of <i>EHMT1</i> haploinsufficiency to the core phenotype

Tjitske Kleefstra,W. A. van Zelst‐Stams,et al.

2009257 citations

COMMD1 is linked to the WASH complex and regulates endosomal trafficking of the copper transporter ATP7A

Christine Phillips-Krawczak,Amika Singla,et al.

2014241 citations

CCC- and WASH-mediated endosomal sorting of LDLR is required for normal clearance of circulating LDL

Paulina Bartuzi,Daniel D. Billadeau,et al.

2016228 citations

Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract

Frances R. Goodman,Stefan Mundlos,et al.

1997214 citations

A clinical study of type 1 neurofibromatosis in north west England

Julie McGaughran,DianaC. Harris,et al.

1999200 citations

Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome

May Tassabehji,Zhi Fang,et al.

2008198 citations