Associated Papers
Therapeutic base editing to generate a gain-of-function F9 variant for hemophilia B.
Baatartsogt N et al.
Blood, 2026
Genotype-phenotype correlation in a large cohort of pediatric patients with heterozygous and homozygous familial hypercholesterolemia.
Reijman MD et al.
Current Opinion in Lipidology, 2023
36752612 (PubMed )
Supplement: colip-34-287-s001.xlsx › Suppl_Table_1_-_variants__HeFH_
Deep generative models of LDLR protein structure to predict variant pathogenicity.
James JK et al.
Journal of Lipid Research, 2023
Functional Characterization of p.(Arg160Gln) PCSK9 Variant Accidentally Found in a Hypercholesterolemic Subject.
Larrea-Sebal A et al.
International Journal of Molecular Sciences, 2023
Familial Occurrence of Adult Granulosa Cell Tumors: Analysis of Whole-Genome Germline Variants.
Roze JF et al.
Cancers, 2021
Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.
Cirulli ET et al.
Nature Communications, 2020
31992710 (PubMed )
Supplement: 41467_2020_14288_MOESM1_ESM.pdf
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