Associated Papers
Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.
Halford JL et al.
Nature Communications, 2022
36042188 (PubMed )
Supplement: 41467_2022_32009_MOESM4_ESM.xlsx › Supplementary_Data_2
Higher Responsiveness to Rosuvastatin in Polygenic versus Monogenic Hypercholesterolaemia: A Propensity Score Analysis.
Mickiewicz A et al.
Life (basel, Switzerland), 2020
32443900 (PubMed )
Supplement: life-10-00073-s001.pdf
Predictable and precise template-free CRISPR editing of pathogenic variants.
Shen MW et al.
Nature, 2018
Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations.
Chmara M et al.
Journal of Applied Genetics, 2010
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