(Q22122055)

17

0 references

Guy A. Rouleau

13

0 references

Sarah J. Lindsay

4

0 references

Carlos Torroja

9

0 references

Ferran Casals

6

0 references

Mark Joseph Daly

14

Mark Daly

0 references

Reed A Cartwright

12

Reed Cartwright

0 references

Klaudia Walter

1 reference

ORCID Public Data File 2021

Andrew G. Clark

1 reference

ORCID Public Data File 2021

Andreas Dahl

1 reference

ORCID Public Data File 2021

Matthew Hurles

16

Matthew E Hurles

0 references

Donald F Conrad

1

Donald F Conrad

0 references

author name string

Jonathan E M Keebler

2

0 references

Mark A DePristo

3

0 references

Yujun Zhang

5

0 references

Youssef Idaghdour

7

0 references

Chris L Hartl

8

0 references

Kiran V Garimella

10

0 references

Martine Zilversmit

11

0 references

Eric A Stone

A map of human genome variation from population-scale sequencing

15

0 references

language of work or name

English

0 references

publication date

July 2011

0 references

published in

Nature Genetics

0 references

volume

43

0 references

issue

7

0 references

page(s)

712-4

0 references

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322360

Direct measure of the de novo mutation rate in autism and schizophrenia cohorts

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322360

Evolution of the mutation rate

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322360

De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322360

Analysis of genetic inheritance in a family quartet by whole-genome sequencing

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322360

Genomic divergences between humans and other hominoids and the effective population size of the common ancestor of humans and chimpanzees

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322360

Estimate of the mutation rate per nucleotide in humans

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322360

Human Y chromosome base-substitution mutation rate measured by direct sequencing in a deep-rooting pedigree

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322360

Distribution and intensity of constraint in mammalian genomic sequence

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322360

Rate, molecular spectrum, and consequences of human mutation

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322360

Copy number variations and clinical cytogenetic diagnosis of constitutional disorders

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322360

How much do we know about spontaneous human mutation rates?

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322360

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322360

A molecular approach to estimating the human deleterious mutation rate.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322360

Strong and weak male mutation bias at different sites in the primate genomes: insights from the human-chimpanzee comparison.

30 May 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.862

The rate of spontaneous mutation of a human gene

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.862

Direct estimates of human per nucleotide mutation rates at 20 loci causing Mendelian diseases

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21666693

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The mutation rate of the gene for haemophilia, and its segregation ratios in males and females

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21666693

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NG.862

1 reference

Dimensions Publication ID

1318187

1003907835

0 references

1318187

1 reference

1 reference

1 reference