The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia (Q34726677)

4 August 2017

The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia (English)

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4 August 2017

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Jana Vandrovcova

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4 August 2017

Penny J Norsworthy

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Laurence Game

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object named as

Laurence Game

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Jennifer Biggs

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Timothy J Aitman

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Santosh S Atanur

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Ellen R A Thomas

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Clare Neuwirth

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Yvonne Tan

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Dalia Kasperaviciute

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Michael Mueller

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Anne K Soutar

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language of work or name

English

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publication date

16 May 2013

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948-957

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https://scigraph.springernature.com/pub.10.1038/gim.2013.55

4 August 2017

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cites work

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Risk of fatal coronary heart disease in familial hypercholesterolaemia. Scientific Steering Committee on behalf of the Simon Broome Register Group

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Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database

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Mechanisms of disease: genetic causes of familial hypercholesterolemia

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The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

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Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment

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A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

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Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing

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Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes

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Simultaneous mutation and copy number variation (CNV) detection by multiplex PCR-based GS-FLX sequencing.

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Next generation diagnostics in inherited arrhythmia syndromes : a comparison of two approaches.

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Microfluidic amplification as a tool for massive parallel sequencing of the familial hypercholesterolemia genes.

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Performance comparison of benchtop high-throughput sequencing platforms

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Accuracy and quality assessment of 454 GS-FLX Titanium pyrosequencing.

21 January 2018

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Identification of essential nucleotides of the FP1 element responsible for enhancement of low density lipoprotein receptor gene transcription

21 January 2018

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Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: Comparison of wet-lab and bioinformatics analyses

21 January 2018

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SLCO1B1 variants and statin-induced myopathy--a genomewide study

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The clinical pharmacogenomics implementation consortium: CPIC guideline for SLCO1B1 and simvastatin-induced myopathy.

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Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics

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Familial hypercholesterolaemia: summary of NICE guidance

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Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project

21 January 2018

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Multiplex ligation-dependent probe amplification analysis to screen for deletions and duplications of theLDLRgene in patients with familial hypercholesterolaemia

21 January 2018

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Genetic defects causing familial hypercholesterolaemia: identification of deletions and duplications in the LDL-receptor gene and summary of all mutations found in patients attending the Hammersmith Hospital Lipid Clinic

21 January 2018

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7 January 2021

Multiplex ARMS analysis to detect 13 common mutations in familial hypercholesterolaemia

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https://api.crossref.org/works/10.1038%2FGIM.2013.55

7 January 2021

Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform

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https://api.crossref.org/works/10.1038%2FGIM.2013.55

7 January 2021

Two point mutations (313 + 1G --> A and 313 + 1G --> T) in the splice donor site of intron 3 of the low-density lipoprotein receptor gene are associated with familial hypercholesterolemia

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https://api.crossref.org/works/10.1038%2FGIM.2013.55

7 January 2021

Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia

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https://api.crossref.org/works/10.1038%2FGIM.2013.55

7 January 2021

Identifiers

DOI

10.1038/GIM.2013.55

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Dimensions Publication ID

4 August 2017

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