The use of targeted exome sequencing in genetic diagnosis of young patients with severe hypercholesterolemia (Q37405756)

20 August 2017

The use of targeted exome sequencing in genetic diagnosis of young patients with severe hypercholesterolemia (English)

1 reference

20 August 2017

0 references

Cesar Martin

12

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Long Jiang

object named as

Long Jiang

1

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author name string

Wen-Feng Wu

2

1 reference

20 August 2017

Li-Yuan Sun

3

1 reference

20 August 2017

Pan-Pan Chen

4

1 reference

20 August 2017

Wei Wang

5

1 reference

20 August 2017

Asier Benito-Vicente

6

1 reference

20 August 2017

Fan Zhang

7

1 reference

20 August 2017

Xiao-Dong Pan

8

1 reference

20 August 2017

Wei Cui

9

1 reference

20 August 2017

Shi-Wei Yang

10

1 reference

20 August 2017

Yu-Jie Zhou

11

1 reference

20 August 2017

Lu-Ya Wang

13

1 reference

20 August 2017

language of work or name

English

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publication date

10 November 2016

1 reference

20 August 2017

1 reference

20 August 2017

6

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20 August 2017

36823

1 reference

Creative Commons Attribution 4.0 International

20 August 2017

start time

10 November 2016

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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Identification of the gene defect responsible for severe hypercholesterolaemia using whole-exome sequencing

6 September 2017

1 reference

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Genetic testing of Korean familial hypercholesterolemia using whole-exome sequencing

6 September 2017

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Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction

6 September 2017

1 reference

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Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

6 September 2017

1 reference

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Refinement of variant selection for the LDL cholesterol genetic risk score in the diagnosis of the polygenic form of clinical familial hypercholesterolemia and replication in samples from 6 countries

6 September 2017

1 reference

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Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society

6 September 2017

1 reference

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Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations

6 September 2017

1 reference

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Genetic diagnosis of familial hypercholesterolaemia by targeted next-generation sequencing.

6 September 2017

1 reference

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Use of targeted exome sequencing in genetic diagnosis of Chinese familial hypercholesterolemia

6 September 2017

1 reference

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Functional characterization of two low-density lipoprotein receptor gene mutations in two Chinese patients with familial hypercholesterolemia

6 September 2017

1 reference

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Integrated guidance on the care of familial hypercholesterolemia from the International FH Foundation

6 September 2017

1 reference

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Epipolymorphisms within lipoprotein genes contribute independently to plasma lipid levels in familial hypercholesterolemia

6 September 2017

1 reference

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A general framework for estimating the relative pathogenicity of human genetic variants

6 September 2017

1 reference

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Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society

6 September 2017

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5103295

Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5103295

Recurrent GNAS mutations define an unexpected pathway for pancreatic cyst development

6 September 2017

1 reference

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Array-based resequencing for mutations causing familial hypercholesterolemia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5103295

Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5103295

MutationTaster evaluates disease-causing potential of sequence alterations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5103295

A method and server for predicting damaging missense mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5103295

6 September 2017

1 reference

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Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5103295

Characterization of the unique Chinese W483X mutation in the low-density lipoprotein-receptor gene in young patients with homozygous familial hypercholesterolemia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5103295

Mutations in the LDL receptor gene in four Chinese homozygous familial hypercholesterolemia phenotype patients

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5103295

Familial hypercholesterolaemia: A global call to arms

14 September 2017

1 reference

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Familial hypercholesterolemia in China. Identification of mutations in the LDL-receptor gene that result in a receptor-negative phenotype.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5103295

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

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5103295

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5103295

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

2 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27830735

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/SREP36823

1 reference

20 August 2017

1 reference

20 August 2017

PubMed publication ID

27830735

1 reference