(Q34726677)

4 August 2017

title

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

1 reference

4 August 2017

0 references

1

Jana Vandrovcova

1 reference

4 August 2017

Penny J Norsworthy

4

0 references

Laurence Game

9

object named as

Laurence Game

1 reference

4 August 2017

8

Jennifer Biggs

1 reference

4 August 2017

12

Timothy J Aitman

1 reference

4 August 2017

3

Santosh S Atanur

1 reference

4 August 2017

Ellen R A Thomas

2

1 reference

4 August 2017

Clare Neuwirth

5

1 reference

4 August 2017

Yvonne Tan

6

1 reference

4 August 2017

Dalia Kasperaviciute

7

1 reference

4 August 2017

Michael Mueller

10

1 reference

4 August 2017

Anne K Soutar

11

1 reference

4 August 2017

language of work or name

English

0 references

publication date

16 May 2013

1 reference

4 August 2017

1 reference

4 August 2017

volume

15

1 reference

4 August 2017

issue

12

1 reference

4 August 2017

page(s)

948-957

1 reference

Census of clinics providing specialist lipid services in the United Kingdom

4 August 2017

cites work

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Mechanisms of disease: genetic causes of familial hypercholesterolemia

21 January 2018

1 reference

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

21 January 2018

1 reference

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

Fast and accurate short read alignment with Burrows-Wheeler transform

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

The International HapMap Project

21 January 2018

1 reference

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

A map of human genome variation from population-scale sequencing

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Performance comparison of benchtop high-throughput sequencing platforms

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Familial hypercholesterolaemia: summary of NICE guidance

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

1 reference

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

7 January 2021

Multiplex ARMS analysis to detect 13 common mutations in familial hypercholesterolaemia

1 reference

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

7 January 2021

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

1 reference

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

1 reference

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

1 reference

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

7 January 2021

Identifiers

DOI

10.1038/GIM.2013.55

1 reference

Dimensions Publication ID

4 August 2017

1036451368

0 references

1 reference