(Q24632353)

21

0 references

Augustine Kong

1

0 references

Gudmar Thorleifsson

16

0 references

Unnur Þorsteinsdóttir

0 references

Patrick Sulem

5

0 references

Aslaug Jonasdottir

9

0 references

Adalbjorg Jonasdottir

10

object named as

Adalbjorg Jonasdottir

0 references

Daníel F. Guðbjartsson

object named as

Daniel F Gudbjartsson

17

0 references

author name string

Michael L Frigge

2

0 references

Gisli Masson

3

0 references

Soren Besenbacher

4

0 references

Gisli Magnusson

6

0 references

Sigurjon A Gudjonsson

7

0 references

Asgeir Sigurdsson

8

0 references

Wendy S W Wong

11

0 references

Gunnar Sigurdsson

12

0 references

G Bragi Walters

13

0 references

Stacy Steinberg

14

0 references

Hannes Helgason

15

0 references

Agnar Helgason

18

0 references

Olafur Th Magnusson

Rates and fitness consequences of new mutations in humans

19

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language of work or name

English

0 references

publication date

23 August 2012

0 references

published in

Nature

0 references

volume

488

0 references

issue

7412

0 references

page(s)

471-5

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=3548427

Variation in genome-wide mutation rates within and between human families

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548427

Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548427

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548427

Fast and accurate short read alignment with Burrows-Wheeler transform

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548427

Disruption of the neurexin 1 gene is associated with schizophrenia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548427

Estimate of the mutation rate per nucleotide in humans

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548427

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548427

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548427

Mutations in NRXN1 in a family multiply affected with brain disorders: NRXN1 mutations and brain disorders

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548427

Mutations in BRIP1 confer high risk of ovarian cancer

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548427

A rare variant in MYH6 is associated with high risk of sick sinus syndrome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548427

Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548427

Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548427

The origins, patterns and implications of human spontaneous 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=3548427

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548427

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548427

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548427

Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548427

Rate, molecular spectrum, and consequences of human mutation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548427

Recombination rate and reproductive success in humans

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548427

Paternal factors and schizophrenia risk: de novo mutations and imprinting

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548427

Molecular basis of base substitution hotspots in Escherichia coli

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548427

Identification of low-frequency variants associated with gout and serum uric acid levels

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548427

Analysis of the genome sequences of three Drosophila melanogaster spontaneous mutation accumulation lines

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548427

Maternal and paternal age and risk of autism spectrum disorders.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548427

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

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22914163

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NATURE11396

1 reference

Dimensions Publication ID

1029300076

0 references

1 reference

1 reference

PubMed publication ID

22914163

1 reference