(Q35538234)

8 August 2017

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

1 reference

8 August 2017

myocardial infarction

1 reference

12

Stacey Gabriel

1 reference

8 August 2017

11

Eric S Lander

1 reference

8 August 2017

Peter Blattmann

4

0 references

Hong-Hee Won

Hong-Hee Won

3

0 references

Rosanna Asselta

Rosanna Asselta

7

0 references

Stefano Duga

Stefano Duga

8

0 references

Sekar Kathiresan

16

Sekar Kathiresan

1 reference

8 August 2017

15

Rainer Pepperkok

1 reference

8 August 2017

10

Diego Ardissino

1 reference

8 August 2017

13

Daniel J Rader

1 reference

8 August 2017

14

Gina M Peloso

1 reference

8 August 2017

Pier Angelica Merlini

9

Pier Angelica Merlini

1 reference

8 August 2017

Aenne S Thormaehlen

1

1 reference

8 August 2017

Christian Schuberth

2

1 reference

8 August 2017

Brigitte Joggerst-Thomalla

5

1 reference

8 August 2017

Susanne Theiss

6

1 reference

8 August 2017

Heiko Runz

17

1 reference

8 August 2017

language of work or name

English

0 references

publication date

3 February 2015

1 reference

8 August 2017

1 reference

8 August 2017

11

1 reference

8 August 2017

2

1 reference

8 August 2017

e1004855

1 reference

Creative Commons Attribution 4.0 International

8 August 2017

start time

3 February 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

describes a project that uses

CellProfiler

CellProfiler

1 reference

CZ Software Mentions: A large dataset of software mentions in the biomedical literature

cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4409815

APOC3, coronary disease, and complexities of Mendelian randomization.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4409815

Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4409815

Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4409815

Searching for missing heritability: designing rare variant association studies

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4409815

Annotating DNA variants is the next major goal for human genetics

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4409815

Meta-analysis of gene-level tests for rare variant association

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4409815

ClinVar: public archive of relationships among sequence variation and human phenotype

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4409815

Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4409815

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4409815

Actionable, pathogenic incidental findings in 1,000 participants' exomes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4409815

A systematic approach to assessing the clinical significance of genetic variants.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4409815

Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4409815

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4409815

Sequencing studies in human genetics: design and interpretation.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4409815

Disease-targeted sequencing: a cornerstone in the clinic

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4409815

RNAi-based functional profiling of loci from blood lipid genome-wide association studies identifies genes with cholesterol-regulatory function

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4409815

An integrated map of genetic variation from 1,092 human genomes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4409815

Exome sequencing and the genetic basis of complex traits

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4409815

Evolution and functional impact of rare coding variation from deep sequencing of human exomes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4409815

A systematic survey of loss-of-function variants in human protein-coding genes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4409815

Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4409815

Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4409815

Predicting the functional impact of protein mutations: application to cancer genomics

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4409815

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4409815

A method and server for predicting damaging missense mutations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4409815

Identification of cholesterol-regulating genes by targeted RNAi screening

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4409815

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4409815

Medical ethics for the genome world: a paper from the 2007 William Beaumont hospital symposium on molecular pathology

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4409815

CellProfiler: image analysis software for identifying and quantifying cell phenotypes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4409815

A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4409815

The UMD-LDLR database: additions to the software and 490 new entries to the database.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4409815

Analysis of LDL receptor gene mutations in Italian patients with homozygous familial hypercholesterolemia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4409815

Hyperlipidemia in coronary heart disease. I. Lipid levels in 500 survivors of myocardial infarction.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4409815

The J.D. mutation in familial hypercholesterolemia: amino acid substitution in cytoplasmic domain impedes internalization of LDL receptors

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4409815

A receptor-mediated pathway for cholesterol homeostasis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4409815

The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4409815

A mutation that impairs the ability of lipoprotein receptors to localise in coated pits on the cell surface of human fibroblasts

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4409815

No evidence of association between prothrombotic gene polymorphisms and the development of acute myocardial infarction at a young age.

12 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004855

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/10.1371%2FJOURNAL.PGEN.1004855

MutationTaster2: mutation prediction for the deep-sequencing age.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004855

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004855

Dysfunctional nitric oxide signalling increases risk of myocardial infarction

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004855

Influence of 9p21.3 Genetic Variants on Clinical and Angiographic Outcomes in Early-Onset Myocardial Infarction

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004855

Human Gene Mutation Database

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004855

Proof of "disease causing" mutation

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25647241

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25647241

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PGEN.1004855

1 reference

8 August 2017

1 reference

8 August 2017

1 reference