Helen Middleton‐Price

Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation

Samantha J.L. Knight, A Flannery, Mark C. Hirst et al. · Cell · 1993 · 523 citations

Medicine, Genetics, Molecular Genetics +16

Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease

Dirk Roos, Martin de Boer, Futoshi Kuribayashi et al. · Blood · 1996 · 422 citations

Life Sciences, Genetics, Molecular Genetics +12

Psychological impact of genetic testing for familial hypercholesterolemia within a previously aware population: A randomized controlled trial

Theresa M. Marteau, Victoria Senior, Steve E. Humphries et al. · American Journal of Medical Genetics Part A · 2004 · 194 citations

Life Sciences, Genetics, Psychology +17

A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH) in the United Kingdom

Karen E. Heath, Steve E. Humphries, Helen Middleton‐Price et al. · European Journal of Human Genetics · 2001 · 107 citations

Life Sciences, Genetics, Molecular Genetics +11

Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: relationship with plasma lipid traits, heart disease risk and utility in relative tracing

Steve E. Humphries, Treena Cranston, Marcus Allen et al. · Journal of Molecular Medicine · 2005 · 70 citations

Medicine, Cardiology, Genetics +13