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

scientific article published on 06 February 2014

LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1194/JLR.D045963
P932PMC publication ID3966710
P698PubMed publication ID24503134
P5875ResearchGate publication ID260119714

P50authorAdam D. McIntyreQ120488225
Robert A. HegeleQ58046422
P2093author name stringJian Wang
John F Robinson
Henian Cao
David E Carter
Joseph B Dubé
Austin MacDonald
Christopher T Johansen
Melissa N Loyzer
P2860cites workA molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH) in the United KingdomQ63314547
The molecular basis of familial hypercholesterolemia in The NetherlandsQ77543744
In search of low-frequency and rare variants affecting complex traitsQ24618492
Biological, clinical and population relevance of 95 loci for blood lipidsQ24622541
Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease riskQ27003094
Sequencing technologies - the next generationQ27860568
Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemiaQ28295479
Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemiaQ28943439
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing dataQ29547161
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencingQ29616235
Massively parallel sequencing approaches for characterization of structural variationQ34121475
Molecular genetic testing and the future of clinical genomicsQ34345162
Clinical whole-exome sequencing for the diagnosis of mendelian disordersQ34413680
Thematic review series: Adipocyte Biology. Lipodystrophies: windows on adipose biology and metabolismQ34610713
Excess of rare variants in non-genome-wide association study candidate genes in patients with hypertriglyceridemiaQ35784042
The UCSC Genome Browser database: extensions and updates 2013.Q36491237
Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutationQ36802138
Opportunities and challenges for the integration of massively parallel genomic sequencing into clinical practice: lessons from the ClinSeq projectQ37216033
Personalized genomic disease risk of volunteersQ37240475
Plasma lipoproteins: genetic influences and clinical implicationsQ37367246
First FDA authorization for next-generation sequencerQ37403376
Novel LPL mutations associated with lipoprotein lipase deficiency: two case reports and a literature reviewQ37417491
Next-generation sequencing in the clinic: are we ready?Q37478694
The diagnosis and management of monogenic diabetes in children and adolescentsQ37597454
Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemiaQ37727765
Molecular mechanisms of human lipodystrophies: from adipocyte lipid droplet to oxidative stress and lipotoxicity.Q37851652
Genetic bases of hypertriglyceridemic phenotypesQ37868881
How next-generation sequencing is transforming complex disease geneticsQ38055956
Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control studyQ43418707
Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnosticsQ45736566
Next-generation sequencing: methodology and applicationQ46756992
Western Database of Lipid Variants (WDLV): a catalogue of genetic variants in monogenic dyslipidemiasQ48039670
P433issue4
P921main subjectdyslipidemiaQ66291209
P304page(s)765-772
P577publication date2014-02-06
P1433published inJournal of Lipid ResearchQ6295449
P1476titleLipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias
P478volume55

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