Julie McGaughran

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

Richard D. Bagnall, Robert G. Weintraub, Jodie Ingles et al. · New England Journal of Medicine · 2016 · 805 citations · Full text

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

Richard C. Trembath, Jennifer R. Thomson, Rajiv D. Machado et al. · New England Journal of Medicine · 2001 · 719 citations · Full text

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, Willy M. Nillesen et al. · Journal of Medical Genetics · 2009 · 257 citations

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

Christine Phillips-Krawczak, Amika Singla, Petro Starokadomskyy et al. · Molecular Biology of the Cell · 2014 · 241 citations · Full text

Molecular Biology, Cytoskeleton, Commd1 Deficiency Results +18

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

Paulina Bartuzi, Daniel D. Billadeau, Robert P. Favier et al. · Nature Communications · 2016 · 228 citations · Full text