(Q42366136)

28 October 2017

The population genetics of human disease: The case of recessive, lethal mutations (English)

1 reference

28 October 2017

1 reference

Carlos Eduardo G Amorim

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28957316%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

author name string

Ziyue Gao

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28957316%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Zachary Baker

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28957316%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

José Francisco Diesel

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28957316%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Yuval B Simons

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28957316%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Imran S Haque

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28957316%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Joseph Pickrell

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28957316%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Molly Przeworski

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28957316%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

language of work or name

1 reference

28 September 2017

1 reference

28 October 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28957316%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

volume

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28957316%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

issue

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28957316%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

page(s)

e1006915

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28957316%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

1 June 2020

copyright license

start time

28 September 2017

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Estimating the selective effects of heterozygous protein-truncating variants from human exome data.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619689

Mutation Rate Variation is a Primary Determinant of the Distribution of Allele Frequencies in Humans.

29 May 2018

1 reference

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The impact of recent population history on the deleterious mutation load in humans and close evolutionary relatives

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619689

Explosive genetic evidence for explosive human population growth

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619689

Variation in the molecular clock of primates

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619689

Genetic surfing in human populations: from genes to genomes

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619689

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619689

Modeled Fetal Risk of Genetic Diseases Identified by Expanded Carrier Screening

29 May 2018

1 reference

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Minireview: Genetic basis of heterogeneity and severity in sickle cell disease

29 May 2018

1 reference

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An expanded sequence context model broadly explains variability in polymorphism levels across the human genome

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619689

The Limits of Natural Selection in a Nonequilibrium World

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619689

A global reference for human genetic variation

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619689

Genome-wide association meta-analysis identifies five modifier loci of lung disease severity in cystic fibrosis

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619689

Dominance of Deleterious Alleles Controls the Response to a Population Bottleneck

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619689

Accurate Non-parametric Estimation of Recent Effective Population Size from Segments of Identity by Descent

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619689

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619689

Rescue of NBD2 mutants N1303K and S1235R of CFTR by small-molecule correctors and transcomplementation

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619689

The Mouse Genome Database (MGD): facilitating mouse as a model for human biology and disease

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619689

Disease-modifying genes and monogenic disorders: experience in cystic fibrosis

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619689

Determinants of mutation rate variation in the human germline

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619689

The deleterious mutation load is insensitive to recent population history

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619689

Neutral genomic regions refine models of recent rapid human population growth

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619689

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619689

Filtering for compound heterozygous sequence variants in non-consanguineous pedigrees

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619689

XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619689

Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619689

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619689

Rate of de novo mutations and the importance of father's age to disease risk

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619689

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619689

Patterns and rates of exonic de novo mutations in autism spectrum disorders

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619689

Variation in the mutation rate across mammalian genomes

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619689

Demographic history and rare allele sharing among human populations

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619689

Substitution rate variation at human CpG sites correlates with non-CpG divergence, methylation level and GC content

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619689

Population genetics of malaria resistance in humans

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619689

BEDTools: a flexible suite of utilities for comparing genomic features

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619689

Proportionally more deleterious genetic variation in European than in African populations.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619689

EVOLUTION IN MENDELIAN POPULATIONS

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619689

Characterization of Allozyme Null and Low Activity Alleles from Two Natural Populations of DROSOPHILA MELANOGASTER.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619689

Rescue of progeria in trichothiodystrophy by homozygous lethal Xpd alleles

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619689

The Distribution of Gene Frequencies in Populations

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619689

Rescuing cystic fibrosis transmembrane conductance regulator (CFTR)-processing mutants by transcomplementation

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619689

The allelic architecture of human disease genes: common disease-common variant... or not?

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619689

Patterns of genetic variation in Mendelian and complex traits

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619689

On the allelic spectrum of human disease

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619689

Inbreeding effects on fertility in humans: evidence for reproductive compensation.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619689

Human Genetics: What is good about cystic fibrosis?

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619689

Cystic Fibrosis Heterozygote Resistance to Cholera Toxin in the Cystic Fibrosis Mouse Model

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619689

The frequency distribution of lethal chromosomes in finite populations

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619689

The CpG dinucleotide and human genetic disease

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619689

Tay-Sachs disease and theoretical population genetics.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619689

Ethnic variation of genetic disease: roles of drift for recessive lethal genes

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619689

Elevated frequency of Tay-Sachs disease among Ashkenazic Jews unlikely by genetic drift alone

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619689

Systematic design and comparison of expanded carrier screening panels

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619689

Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619689

Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619689

A note on the calculation of empirical P values from Monte Carlo procedures.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619689

Mutation-selection balance with multiple alleles

17 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28957316

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Are CpG sites mutation hot spots in the dystrophin gene?

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28957316

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PGEN.1006915

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28957316%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28957316%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

PubMed publication ID

28957316

1 reference