Associated Papers
Shared and divergent contribution of vitamin A and oxytocin to the aetiology of autism spectrum disorder.
Wang T et al.
Computational and Structural Biotechnology Journal, 2023
38213898 (PubMed )
Supplement: mmc2.xlsx › RIVs_in_VARGs
Identifying interpretable gene-biomarker associations with functionally informed kernel-based tests in 190,000 exomes.
Monti R et al.
Nature Communications, 2022
Computational SNP Analysis and Molecular Simulation Revealed the Most Deleterious Missense Variants in the NBD1 Domain of Human ABCA1 Transporter.
Dash R et al.
International Journal of Molecular Sciences, 2020
33066695 (PubMed )
Supplement: ijms-21-07606-s001.zip › Supplementary_Files › Supplementary_File_1..xlsx › Sheet1
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Dron JS et al.
Bmc Medical Genomics, 2020
32041611 (PubMed )
Supplement: 12920_2020_669_MOESM1_ESM.xlsx › Supp_Table_4
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
Genetic and secondary causes of severe HDL deficiency and cardiovascular disease.
Geller AS et al.
Journal of Lipid Research, 2018
Polygenic determinants in extremes of high-density lipoprotein cholesterol.
Dron JS et al.
Journal of Lipid Research, 2017
Targeted next-generation sequencing to diagnose disorders of HDL cholesterol.
Sadananda SN et al.
Journal of Lipid Research, 2015
A Comprehensive In Silico Analysis of the Functional and Structural Impact of Nonsynonymous SNPs in the ABCA1 Transporter Gene.
Marín-Martín FR et al.
Cholesterol, 2014
Genetic etiology of isolated low HDL syndrome: incidence and heterogeneity of efflux defects.
Kiss RS et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2007
Do mutations causing low HDL-C promote increased carotid intima-media thickness?
Miller M et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2007
Inherited disorders of HDL metabolism and atherosclerosis.
Hovingh GK et al.
Current Opinion in Lipidology, 2005
Screening for functional sequence variations and mutations in ABCA1.
Probst MC et al.
Atherosclerosis, 2004
Lack of association between increased carotid intima-media thickening and decreased HDL-cholesterol in a family with a novel ABCA1 variant, G2265T.
Hong SH et al.
Clinical Chemistry, 2002
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