(Q50668042)

17 March 2018

title

Early postzygotic mutations contribute to de novo variation in a healthy monozygotic twin pair. (English)

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17 March 2018

author

Can Alkan

6

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17 March 2018

author name string

Gülşah M Dal

1

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17 March 2018

Bekir Ergüner

2

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17 March 2018

Mahmut S Sağıroğlu

3

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17 March 2018

Bayram Yüksel

4

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17 March 2018

Onur Emre Onat

5

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17 March 2018

Tayfun Özçelik

7

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17 March 2018

language of work or name

English

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publication date

24 April 2014

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17 March 2018

Journal of Medical Genetics

published in

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17 March 2018

volume

51

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17 March 2018

issue

7

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17 March 2018

page(s)

455-459

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17 March 2018

The rate of spontaneous mutation of a human gene

cites work

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102197

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102197

Estimating the human mutation rate using autozygosity in a founder population

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102197

Fast and accurate short read alignment with Burrows-Wheeler transform

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102197

The Sequence Alignment/Map format and SAMtools

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102197

A framework for variation discovery and genotyping using next-generation DNA sequencing data

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102197

BEDTools: a flexible suite of utilities for comparing genomic features

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102197

Integrative genomics viewer

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102197

Enhancements and modifications of primer design program Primer3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102197

PerlPrimer: cross-platform, graphical primer design for standard, bisulphite and real-time PCR.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102197

Somatic point mutations occurring early in development: a monozygotic twin study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102197

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102197

A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102197

A genomic view of mosaicism and human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102197

Properties and rates of germline mutations in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102197

A Quantitative Measurement of the Human Somatic Mutation Rate

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102197

Rate, molecular spectrum, and consequences of human mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102197

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102197

Differential relationship of DNA replication timing to different forms of human mutation and variation

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102197

Genome, epigenome and RNA sequences of monozygotic twins discordant for multiple sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102197

Genetic heterogeneity in human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102197

De novo mutations in human genetic disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102197

Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102197

De Novo Gene Disruptions in Children on the Autistic Spectrum

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102197

Genetics. Genome mosaicism--one human, multiple genomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102197

Timing of de novo mutagenesis--a twin study of sodium-channel mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102197

Extensive genetic variation in somatic human tissues

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102197

Somatic retrotransposition alters the genetic landscape of the human brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102197

Uncovering the complex mysteries of mosaicism

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102197

10.1136/JMEDGENET-2013-102197

21 January 2018

Identifiers

DOI

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17 March 2018

PubMed ID

24764354

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17 March 2018