LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias (Q37665490)

21 August 2017

LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias (English)

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21 August 2017

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Robert A Hegele

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Adam D. McIntyre

object named as

Adam D McIntyre

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21 August 2017

Christopher T Johansen

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21 August 2017

Joseph B Dubé

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21 August 2017

Melissa N Loyzer

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21 August 2017

Austin MacDonald

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21 August 2017

David E Carter

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21 August 2017

Henian Cao

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21 August 2017

Jian Wang

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21 August 2017

John F Robinson

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21 August 2017

6 February 2014

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Journal of Lipid Research

21 August 2017

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21 August 2017

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21 August 2017

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21 August 2017

765-772

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First FDA authorization for next-generation sequencer

21 August 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3966710

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3966710

Personalized genomic disease risk of volunteers

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3966710

Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3966710

In search of low-frequency and rare variants affecting complex traits

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3966710

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3966710

Molecular genetic testing and the future of clinical genomics

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3966710

The UCSC Genome Browser database: extensions and updates 2013.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3966710

Next-generation sequencing in the clinic: are we ready?

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3966710

Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3966710

Opportunities and challenges for the integration of massively parallel genomic sequencing into clinical practice: lessons from the ClinSeq project

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3966710

Massively parallel sequencing approaches for characterization of structural variation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3966710

Excess of rare variants in non-genome-wide association study candidate genes in patients with hypertriglyceridemia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3966710

Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3966710

Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3966710

Biological, clinical and population relevance of 95 loci for blood lipids

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3966710

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3966710

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3966710

Sequencing technologies - the next generation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3966710

The diagnosis and management of monogenic diabetes in children and adolescents

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3966710

Novel LPL mutations associated with lipoprotein lipase deficiency: two case reports and a literature review

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3966710

Plasma lipoproteins: genetic influences and clinical implications

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3966710

Thematic review series: Adipocyte Biology. Lipodystrophies: windows on adipose biology and metabolism

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3966710

How next-generation sequencing is transforming complex disease genetics

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3966710

Genetic bases of hypertriglyceridemic phenotypes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3966710

Molecular mechanisms of human lipodystrophies: from adipocyte lipid droplet to oxidative stress and lipotoxicity.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3966710

Next-generation sequencing: methodology and application

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3966710

Western Database of Lipid Variants (WDLV): a catalogue of genetic variants in monogenic dyslipidemias

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3966710

Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3966710

Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3966710

A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH) in the United Kingdom

1 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24503134

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The molecular basis of familial hypercholesterolemia in The Netherlands

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24503134

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1194/JLR.D045963

1 reference

21 August 2017

1 reference

21 August 2017

PubMed publication ID

24503134

1 reference