Marta Futema

Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study

Philippa J. Talmud, Sonia Shah, Ros Whittall et al. · The Lancet · 2013 · 572 citations · Full text

Metabolic Syndrome, Lipid Disorder, Genetic Determinant +12

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

Jie Huang, Bryan Howie, Shane McCarthy et al. · Nature Communications · 2015 · 374 citations · Full text

The UK10K project identifies rare variants in health and disease

Klaudia Walter, Josine L. Min, Jie Huang et al. · Kölner Universitäts PublikationsServer (Universität zu Köln) · 2015 · 299 citations · Full text

UK Biobank release and systematic evaluation of optimised polygenic risk scores for 53 diseases and quantitative traits

Deborah J. Thompson, Daniel Wells, Saskia Selzam et al. · 2022 · 258 citations · Full text

Polygenic Risk, Genetic Epidemiology, Disease Classification +17

Refinement of Variant Selection for the LDL Cholesterol Genetic Risk Score in the Diagnosis of the Polygenic Form of Clinical Familial Hypercholesterolemia and Replication in Samples from 6 Countries

Marta Futema, Sonia Shah, Jackie Cooper et al. · Clinical Chemistry · 2014 · 206 citations · Full text