Steve E. Humphries

1. Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic
   2013/04/18 by Marta Futema, Ros Whittall, Ros A. Whittall +10 · 28 citations
   Medicine · Biochemistry, Genetics and Molecular Biology · #Lipoproteins and Cardiovascular Health #Diabetes, Cardiovascular Risks, and Lipoproteins #Genomics and Rare Diseases
2. Comparison of the mutation spectrum and association with pre and post treatment lipid measures of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries
   2021/01/13 by Marta Futema, Uma Ramaswami, Lukas Tichy +25 · 13 citations
   Medicine · #Lipoproteins and Cardiovascular Health #Diabetes, Cardiovascular Risks, and Lipoproteins #Cholesterol and Lipid Metabolism
3. The UCL low-density lipoprotein receptor gene variant database: pathogenicity update
   2016/11/07 by S. E. A. Leigh, Sarah Leigh, Marta Futema +8 · 25 citations
   Medicine · Biochemistry, Genetics and Molecular Biology · #Lipoproteins and Cardiovascular Health #Diabetes, Cardiovascular Risks, and Lipoproteins #Genomics and Rare Diseases