Associated Papers
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.
Goodrich JK et al.
Nature Communications, 2021
34108472 (PubMed )
Supplement: 41467_2021_23556_MOESM3_ESM.xlsx › Supp_Data_2
Frequency of genomic secondary findings among 21,915 eMERGE network participants.
Unknown Author
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32546831 (PubMed )
Supplement: NIHMS1615423-supplement-Supplementary_Table_2.xlsx › Sheet1
Genetic diagnosis of familial hypercholesterolaemia using a rapid biochip array assay for 40 common LDLR, APOB and PCSK9 mutations.
Martin R et al.
Atherosclerosis, 2016
Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations.
Johnston JJ et al.
American Journal of Human Genetics, 2015
The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia.
Vandrovcova J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2013
Detection of variations and identifying genomic breakpoints for large deletions in the LDLR by Ion Torrent semiconductor sequencing.
Faiz F et al.
Atherosclerosis, 2013
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