Agile parallel bioinformatics workflow management using Pwrake.
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
Analysis of protein-coding genetic variation in 60,706 humans
Sitosterolemia: opposing effects of cholestyramine and lovastatin on plasma sterol levels in a homozygous girl and her heterozygous father
Infantile Cases of Sitosterolaemia with Novel Mutations in the ABCG5 Gene: Extreme Hypercholesterolaemia is Exacerbated by Breastfeeding
Serum lathosterol concentration is an indicator of whole-body cholesterol synthesis in humans.
MutationTaster2: mutation prediction for the deep-sequencing age
Plant sterols and cardiovascular disease: a systematic review and meta-analysis†
Phenotypic heterogeneity of sitosterolemia
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
A method and server for predicting damaging missense mutations
Cholesterol Addition to ER Membranes Alters Conformation of SCAP, the SREBP Escort Protein that Regulates Cholesterol Metabolism
Dominant forces in protein folding
Accumulation of Dietary Cholesterol in Sitosterolemia Caused by Mutations in Adjacent ABC Transporters
Sitosterolemia—10 years observation in two sisters
Direct Binding of Cholesterol to the Purified Membrane Region of SCAP
Crystal structure of the human sterol transporter ABCG5/ABCG8
Efficacy of statins in familial hypercholesterolaemia: a long term cohort study
Structural origins of pH‐dependent chemical shifts in the B1 domain of protein G
Sitosterolaemia: pathophysiology, clinical presentation and laboratory diagnosis
Beta‐sitosterolaemia: a new nonsense mutation in the ABCG5 gene
Sitosterolemia Presenting With Severe Hypercholesterolemia and Intertriginous Xanthomas in a Breastfed Infant: Case Report and Brief Review
Cooperative transcriptional activation of ATP-binding cassette sterol transporters ABCG5 and ABCG8 genes by nuclear receptors including Liver-X-Receptor
Guidelines for diagnosis and treatment of familial hypercholesterolemia
Sitosterolemia, Hypercholesterolemia, and Coronary Artery Disease
Rare and Deleterious Mutations in ABCG5/ABCG8 Genes Contribute to Mimicking and Worsening of Familial Hypercholesterolemia Phenotype