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Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained Clinically

Arteriosclerosis, thrombosis, and vascular biology, 2016-12, Vol.36 (12), p.2439

2016

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Use of next-generation sequencing to detect LDLR gene copy number variation in familial hypercholesterolemia

Journal of lipid research, 2017-11, Vol.58 (11), p.2202-2209

2017

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Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias

BMC medical genomics, 2020-02, Vol.13 (1), p.23-23, Article 23

2020

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Defective KIM-1 phagocytosis does not predispose to acute graft dysfunction after kidney transplantation in humans

Kidney international, 2022-08, Vol.102 (2), p.435-439

2022

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LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias[S]

Journal of lipid research, 2014-04, Vol.55 (4), p.765-772

2014

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Severe hypertriglyceridemia is primarily polygenic

Journal of clinical lipidology, 2019-01, Vol.13 (1), p.80-88

2019

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Targeted next-generation sequencing in monogenic dyslipidemias

Current opinion in lipidology, 2015-04, Vol.26 (2), p.103-113

2015

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Prevalence of severe hypertriglyceridemia and pancreatitis in familial partial lipodystrophy type 2

Journal of clinical lipidology, 2021-09, Vol.15 (5), p.653-657

2021

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Variability of longitudinal triglyceride phenotype in patients heterozygous for pathogenic APOA5 variants

Journal of clinical lipidology, 2023-09, Vol.17 (5), p.659-665

2023

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Pseudotumors and High-Grade Aseptic Lymphocyte-Dominated Vasculitis-Associated Lesions Around Total Knee Replacements Identified at Aseptic Revision Surgery: Findings of a Large-Scale Histologic Review

The Journal of arthroplasty, 2019-10, Vol.34 (10), p.2434-2438

2019

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Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia

Nature genetics, 2010-08, Vol.42 (8), p.684

2010

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Polygenic determinants in extremes of high-density lipoprotein cholesterol

Journal of lipid research, 2017-11, Vol.58 (11), p.2162-2170

2017

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The polygenic nature of mild-to-moderate hypertriglyceridemia

Journal of clinical lipidology, 2020-01, Vol.14 (1), p.28-34.e2

2020

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The longitudinal triglyceride phenotype in heterozygotes with LPL pathogenic variants

Journal of clinical lipidology, 2023-01, Vol.17 (1), p.87-93

2023

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High Frequency of Variants of Candidate Genes in Black Africans with Low Renin-Resistant Hypertension

American journal of hypertension, 2017-05, Vol.30 (5), p.478-483

2017

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The apolipoprotein C-III (Gln38Lys) variant associated with human hypertriglyceridemia is a gain-of-function mutation

Journal of lipid research, 2017-11, Vol.58 (11), p.2188-2196

2017

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Copy Number Variation in GCK in Patients With Maturity-Onset Diabetes of the Young

The journal of clinical endocrinology and metabolism, 2019-08, Vol.104 (8), p.3428-3436

2019

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Partial LPL deletions: rare copy-number variants contributing towards severe hypertriglyceridemia

Journal of lipid research, 2019-11, Vol.60 (11), p.1953-1958

2019

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Transient Infantile Hypertriglyceridemia, Fatty Liver, and Hepatic Fibrosis Caused by Mutated GPD1, Encoding Glycerol-3-Phosphate Dehydrogenase 1

American journal of human genetics, 2012-01, Vol.90 (1), p.49-60

2012

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Clinical and Mutation Spectra of Cockayne Syndrome in India

Neurology India, 2021-03, Vol.69 (2), p.362-366

2021

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Complex genetic architecture in severe hypobetalipoproteinemia

Lipids in health and disease, 2018-03, Vol.17 (1), p.48-48, Article 48

2018

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Unit Sales Trends of Hip Arthroplasty Procedures Performed in Ontario in 2020

The Journal of arthroplasty, 2022-07, Vol.37 (7), p.S413-S415.e1

2022

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Vascular calcification in chronic kidney disease associated with pathogenic variants in ABCC6

Gene, 2024-11, Vol.927, p.148731, Article 148731

2024

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Lipoprotein (a) in familial hypercholesterolemia

CJC open (Online), 2024-01, Vol.6 (1), p.40-46

2024

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Apolipoprotein B and PNPLA3 Double Heterozygosity in a Father–Son Pair With Advanced Nonalcoholic Fatty Liver Disease

Hepatology (Baltimore, Md.), 2020-01, Vol.71 (1), p.383-385

2020

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Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained Clinically

Use of next-generation sequencing to detect LDLR gene copy number variation in familial hypercholesterolemia

Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias

Defective KIM-1 phagocytosis does not predispose to acute graft dysfunction after kidney transplantation in humans

LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias[S]

Severe hypertriglyceridemia is primarily polygenic

Targeted next-generation sequencing in monogenic dyslipidemias

Prevalence of severe hypertriglyceridemia and pancreatitis in familial partial lipodystrophy type 2

Variability of longitudinal triglyceride phenotype in patients heterozygous for pathogenic APOA5 variants

Pseudotumors and High-Grade Aseptic Lymphocyte-Dominated Vasculitis-Associated Lesions Around Total Knee Replacements Identified at Aseptic Revision Surgery: Findings of a Large-Scale Histologic Review

Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia

Polygenic determinants in extremes of high-density lipoprotein cholesterol

The polygenic nature of mild-to-moderate hypertriglyceridemia

The longitudinal triglyceride phenotype in heterozygotes with LPL pathogenic variants

High Frequency of Variants of Candidate Genes in Black Africans with Low Renin-Resistant Hypertension

The apolipoprotein C-III (Gln38Lys) variant associated with human hypertriglyceridemia is a gain-of-function mutation

Copy Number Variation in GCK in Patients With Maturity-Onset Diabetes of the Young

Partial LPL deletions: rare copy-number variants contributing towards severe hypertriglyceridemia

Transient Infantile Hypertriglyceridemia, Fatty Liver, and Hepatic Fibrosis Caused by Mutated GPD1, Encoding Glycerol-3-Phosphate Dehydrogenase 1

Clinical and Mutation Spectra of Cockayne Syndrome in India

Complex genetic architecture in severe hypobetalipoproteinemia

Unit Sales Trends of Hip Arthroplasty Procedures Performed in Ontario in 2020

Vascular calcification in chronic kidney disease associated with pathogenic variants in ABCC6

Lipoprotein (a) in familial hypercholesterolemia

Apolipoprotein B and PNPLA3 Double Heterozygosity in a Father–Son Pair With Advanced Nonalcoholic Fatty Liver Disease

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