Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome

Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel et al. · Nature · 2016 · 10.1K citations · Full text

Phenotypic Variation, Protein-coding Genetic Variation, Genetics +5

A general framework for estimating the relative pathogenicity of human genetic variants

Martin Kircher, Daniela Witten, Preti Jain et al. · Nature Genetics · 2014 · 6.4K citations · Full text

Relative Pathogenicity, Genetics, Genetic Epidemiology +16

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

Nara Sobreira, François Schiettecatte, David Valle et al. · Human Mutation · 2015 · 1.5K citations · Full text

Genetics, Genetic Epidemiology, Genomics +21

Determination of Cholesterol Oxidation Products in Human Plasma by Isotope Dilution-Mass Spectrometry

S. Dzeletovic, Olof Breuer, Erik Lund et al. · Analytical Biochemistry · 1995 · 558 citations

Cholesterol Oxidation Products, Lipid Analysis, Biochemistry +11

Lanosterol reverses protein aggregation in cataracts

Ling Zhao, Xiangjun Chen, Jie Zhu et al. · Nature · 2015 · 439 citations

Protein Function, Oxysterol, Biochemistry +5