Elizabeth McPherson

Intravenous ferric derisomaltose in patients with heart failure and iron deficiency in the UK (IRONMAN): an investigator-initiated, prospective, randomised, open-label, blinded-endpoint trial

Paul R. Kalra, John G.F. Cleland, Mark C. Petrie et al. · The Lancet · 2022 · 372 citations · Full text

Medicine, Cardiology, Internal Medicine +11

Mutations in PDGFRB Cause Autosomal-Dominant Infantile Myofibromatosis

John A. Martignetti, Lifeng Tian, Dong Li et al. · The American Journal of Human Genetics · 2013 · 206 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen

U. Schwarze, Tim Cundy, Shawna M. Pyott et al. · Human Molecular Genetics · 2012 · 139 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes

Jill A. Rosenfeld, Ryan N. Traylor, G. Bradley Schaefer et al. · European Journal of Human Genetics · 2012 · 131 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Dominantly inherited renal adysplasia

Elizabeth McPherson, John C. Carey, Andrew A. Kramer et al. · American Journal of Medical Genetics · 1987 · 114 citations

Medicine, Genetics, Human Genetics +14