(Q35956363)

11 August 2017

Identification of cis-suppression of human disease mutations by comparative genomics (English)

1 reference

11 August 2017

1 reference

Stephan G Frangakis

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26123021%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Christopher A Cassa

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26123021%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Joanne Kurtzberg

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26123021%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Task Force for Neonatal Genomics

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26123021%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Erica E Davis

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26123021%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Shamil R Sunyaev

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26123021%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Nicholas Katsanis

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26123021%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

language of work or name

English

0 references

publication date

29 June 2015

1 reference

11 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26123021%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

volume

524

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26123021%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

issue

7564

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26123021%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

page(s)

225-229

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26123021%20AND%20SRC:MED&resulttype=core&format=json

describes a project that uses

14 June 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4537371/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537371

Should evolutionary geneticists worry about higher-order epistasis?

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537371

The UCSC Genome Browser database: 2014 update

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537371

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537371

Genetic incompatibilities are widespread within species

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537371

In vivo modeling of the morbid human genome using Danio rerio

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537371

Comparative genomics as a tool to understand evolution and disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537371

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537371

Estimating the rate of irreversibility in protein evolution.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537371

Determinants of incomplete penetrance and variable expressivity in heritable cardiac arrhythmia syndromes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537371

SIFT web server: predicting effects of amino acid substitutions on proteins

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537371

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537371

Truncations of titin causing dilated cardiomyopathy.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537371

An integrative variant analysis suite for whole exome next-generation sequencing data

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537371

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537371

Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537371

Diminishing returns epistasis among beneficial mutations decelerates adaptation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537371

Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537371

Sequence space and the ongoing expansion of the protein universe

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537371

A method and server for predicting damaging missense mutations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537371

Easy retrieval of single amino-acid polymorphisms and phenotype information using SwissVar

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537371

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537371

Characterization of compensated mutations in terms of structural and physico-chemical properties.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537371

Darwinian evolution can follow only very few mutational paths to fitter proteins

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537371

Why are some human disease-associated mutations fixed in mice?

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537371

Initial sequencing and comparative analysis of the mouse genome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537371

Dobzhansky-Muller incompatibilities in protein evolution

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537371

BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537371

Overexpression of the nerve growth factor-inducible PC3 immediate early gene is associated with growth inhibition

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537371

The genetics of speciation: are complex incompatibilities easier to evolve?

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537371

The role of epistasis in protein evolution.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537371

Epistasis as the primary factor in molecular evolution

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537371

Model-based prediction of sequence alignment quality

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537371

Compensated deleterious mutations in insect genomes

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537371

Exome and genome sequencing of neonates with neurodevelopmental disorders

24 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNATURE14497

21 January 2018

Identifiers

DOI

10.1038/NATURE14497

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26123021%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

14 June 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26123021%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

PubMed publication ID

26123021

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26123021%20AND%20SRC:MED&resulttype=core&format=json