(Q36331726)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28369035%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

title

Estimating the selective effects of heterozygous protein-truncating variants from human exome data (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28369035%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

1 reference

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28369035%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

David Nusinow

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28369035%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

Kaitlin E Samocha

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28369035%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

Anne H O'Donnell-Luria

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28369035%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

Mark Joseph Daly

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28369035%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

author name string

Christopher A Cassa

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28369035%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

Donate Weghorn

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28369035%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

Daniel J Balick

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28369035%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

Daniel G MacArthur

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28369035%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

David R Beier

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28369035%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

Shamil R Sunyaev

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28369035%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

language of work or name

English

0 references

publication date

3 April 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28369035%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28369035%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

volume

49

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28369035%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28369035%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

page(s)

806-810

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28369035%20AND%20SRC:MED&resulttype=core&format=json

Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity

15 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5618255

Analysis of protein-coding genetic variation in 60,706 humans

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5618255

When Is Selection Effective?

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5618255

Identification and characterization of essential genes in the human genome.

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5618255

The Intolerance of Regulatory Sequence to Genetic Variation Predicts Gene Dosage Sensitivity

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5618255

Dominance of Deleterious Alleles Controls the Response to a Population Bottleneck

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5618255

The BioPlex Network: A Systematic Exploration of the Human Interactome

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5618255

Genome-wide patterns and properties of de novo mutations in humans

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5618255

No evidence that selection has been less effective at removing deleterious mutations in Europeans than in Africans

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5618255

The distribution of deleterious genetic variation in human populations

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5618255

Clinical exome sequencing for genetic identification of rare Mendelian disorders

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5618255

Molecular findings among patients referred for clinical whole-exome sequencing

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5618255

A framework for the interpretation of de novo mutation in human disease

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5618255

Simulation of Finnish population history, guided by empirical genetic data, to assess power of rare-variant tests in Finland

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5618255

The deleterious mutation load is insensitive to recent population history

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5618255

The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5618255

SLiM: simulating evolution with selection and linkage.

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5618255

Clinical genomic database

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5618255

From mouse to human: evolutionary genomics analysis of human orthologs of essential genes

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5618255

Mouse large-scale phenotyping initiatives: overview of the European Mouse Disease Clinic (EUMODIC) and of the Wellcome Trust Sanger Institute Mouse Genetics Project

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5618255

Exome sequencing and the genetic basis of complex traits

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5618255

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

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5618255

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

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5618255

Inferences about the distribution of dominance drawn from yeast gene knockout data

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5618255

Identifying relationships among genomic disease regions: predicting genes at pathogenic SNP associations and rare deletions

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5618255

Power of deep, all-exon resequencing for discovery of human trait genes

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5618255

Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5618255

Assessing the evolutionary impact of amino acid mutations in the human genome

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5618255

The distribution of fitness effects of new mutations

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5618255

Most rare missense alleles are deleterious in humans: implications for complex disease and association studies

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5618255

Simultaneous inference of selection and population growth from patterns of variation in the human genome

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5618255

Population genetics of polymorphism and divergence for diploid selection models with arbitrary dominance

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5618255

Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5618255

Transcription factor haploinsufficiency: when half a loaf is not enough

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5618255

Specific and redundant functions of Gli2 and Gli3 zinc finger genes in skeletal patterning and development

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5618255

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5618255

Estimation of deleterious-mutation parameters in natural populations

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5618255

Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5618255

A mouse model of greig cephalopolysyndactyly syndrome: the extra-toesJ mutation contains an intragenic deletion of the Gli3 gene

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5618255

Total number of individuals affected by a single deleterious mutation in a finite population

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5618255

Mutation rate and dominance of genes affecting viability in Drosophila melanogaster

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5618255

The age of a rare mutant gene in a large population

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5618255

Evolution in Mendelian populations. 1931.

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5618255

The first arrival time and mean age of a deleterious mutant gene in a finite population

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5618255

Mutations affecting fitness in Drosophila populations

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5618255

GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5618255

Characteristics of neutral and deleterious protein-coding variation among individuals and populations

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5618255

Database resources of the National Center for Biotechnology Information

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5618255

Point mutations in human GLI3 cause Greig syndrome.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5618255

GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5618255

Human knockouts in a cohort with a high rate of consanguinity

22 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.3831

inferred from DOI database lookup

7 January 2021

based on heuristic

The age of an allele in a finite population

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.3831

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NG.3831

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28369035%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28369035%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

PubMed publication ID

28369035

1 reference