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Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained Clinically

Arteriosclerosis, thrombosis, and vascular biology, 2016-12, Vol.36 (12), p.2439-2445

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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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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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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Targeted next-generation sequencing in monogenic dyslipidemias

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

2015

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Reduced lipoprotein (a) in patients with severe hypertriglyceridaemia

Journal of international medical research, 2024-10, Vol.52 (10), p.3000605241289294

2024

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

Nature genetics, 2010-08, Vol.42 (8), p.684-687

2010

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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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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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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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Clinical and Mutation Spectra of Cockayne Syndrome in India

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

2021

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A Novel LIPE Nonsense Mutation Found Using Exome Sequencing in Siblings With Late-Onset Familial Partial Lipodystrophy

Canadian journal of cardiology, 2014-12, Vol.30 (12), p.1649-1654

2014

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Combined hyperlipidemia is genetically similar to isolated hypertriglyceridemia

Journal of clinical lipidology, 2021-01, Vol.15 (1), p.79-87

2021

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Whole-Gene Duplication of PCSK9 as a Novel Genetic Mechanism for Severe Familial Hypercholesterolemia

Canadian journal of cardiology, 2018-10, Vol.34 (10), p.1316-1324

2018

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Interrogation of selected genes influencing serum LDL-Cholesterol levels in patients with well characterized NAFLD

Journal of clinical lipidology, 2021-03, Vol.15 (2), p.275-291

2021

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A Novel APOC2 Missense Mutation Causing Apolipoprotein C-II Deficiency With Severe Triglyceridemia and Pancreatitis

The journal of clinical endocrinology and metabolism, 2017-05, Vol.102 (5), p.1454-1457

2017

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Enrichment of loss-of-function and copy number variants in ventricular cardiomyopathy genes in ‘lone’ atrial fibrillation

Europace (London, England), 2021-06, Vol.23 (6), p.844-850

2021

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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

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

Severe hypertriglyceridemia is primarily polygenic

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

Targeted next-generation sequencing in monogenic dyslipidemias

Reduced lipoprotein (a) in patients with severe hypertriglyceridaemia

Polygenic determinants in extremes of high-density lipoprotein cholesterol

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

Complex genetic architecture in severe hypobetalipoproteinemia

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

Clinical and Mutation Spectra of Cockayne Syndrome in India

A Novel LIPE Nonsense Mutation Found Using Exome Sequencing in Siblings With Late-Onset Familial Partial Lipodystrophy

Combined hyperlipidemia is genetically similar to isolated hypertriglyceridemia

Whole-Gene Duplication of PCSK9 as a Novel Genetic Mechanism for Severe Familial Hypercholesterolemia

Interrogation of selected genes influencing serum LDL-Cholesterol levels in patients with well characterized NAFLD

A Novel APOC2 Missense Mutation Causing Apolipoprotein C-II Deficiency With Severe Triglyceridemia and Pancreatitis

Enrichment of loss-of-function and copy number variants in ventricular cardiomyopathy genes in ‘lone’ atrial fibrillation

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