Robust identification of mosaic variants in congenital heart disease (Q50126566)

25 February 2018

http://europepmc.org/abstract/MED/29417219

title

Robust identification of mosaic variants in congenital heart disease (English)

1 reference

25 February 2018

http://europepmc.org/abstract/MED/29417219

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29417219%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Elizabeth Goldmuntz

1 reference

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2 June 2020

J G Seidman

1 reference

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2 June 2020

Christine E Seidman

1 reference

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2 June 2020

Joshua Gorham

1 reference

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2 June 2020

Bruce D Gelb

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Ângela Taís Mattei da Silva

2 June 2020

object named as

Angela C Tai

1 reference

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2 June 2020

Martina Brueckner

1 reference

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2 June 2020

Jason Homsy

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2 June 2020

Kathryn B Manheimer

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2 June 2020

Lisa J Edelmann

1 reference

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2 June 2020

Sunita L D'Souza

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2 June 2020

Lisong Shi

1 reference

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2 June 2020

Yufeng Shen

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2 June 2020

Marko T Boskovski

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2 June 2020

Christopher Yasso

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2 June 2020

Richard P Lifton

1 reference

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2 June 2020

Wendy K Chung

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2 June 2020

publication date

7 February 2018

1 reference

25 February 2018

http://europepmc.org/abstract/MED/29417219

published in

Human Genetics

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29417219%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

volume

137

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2 June 2020

issue

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2 June 2020

page(s)

183-193

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Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder

2 June 2020

cites work

1 reference

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26 August 2018

1 reference

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DNA damage is a pervasive cause of sequencing errors, directly confounding variant identification.

26 August 2018

1 reference

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Early somatic mosaicism is a rare cause of long-QT syndrome

26 August 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5997246

The Contribution of Mosaic Variants to Autism Spectrum Disorder

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5997246

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5997246

A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing.

26 August 2018

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Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations

26 August 2018

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From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline

26 August 2018

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The contribution of de novo coding mutations to autism spectrum disorder

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5997246

Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5997246

Somatic mutations in cerebral cortical malformations

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5997246

Digital Droplet PCR: CNV Analysis and Other Applications

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5997246

Somatic mosaicism and disease.

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5997246

A pathogenic mosaic TP53 mutation in two germ layers detected by next generation sequencing

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5997246

The origin, mechanisms, incidence and clinical consequences of chromosomal mosaicism in humans

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5997246

A general framework for estimating the relative pathogenicity of human genetic variants

26 August 2018

1 reference

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Enhanced sensitivity for detection of low-level germline mosaic RB1 mutations in sporadic retinoblastoma cases using deep semiconductor sequencing

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5997246

Detecting somatic point mutations in cancer genome sequencing data: a comparison of mutation callers

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5997246

Somatic mutation, genomic variation, and neurological disease

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5997246

A genomic view of mosaicism and human disease

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5997246

Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5997246

Discovery and characterization of artifactual mutations in deep coverage targeted capture sequencing data due to oxidative DNA damage during sample preparation

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5997246

MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome.

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5997246

Strelka: accurate somatic small-variant calling from sequenced tumor-normal sample pairs

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5997246

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

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5997246

VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5997246

JointSNVMix: a probabilistic model for accurate detection of somatic mutations in normal/tumour paired next-generation sequencing data

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5997246

SomaticSniper: identification of somatic point mutations in whole genome sequencing data

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5997246

Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5997246

A mosaic activating mutation in AKT1 associated with the Proteus syndrome

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5997246

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5997246

GISTIC2.0 facilitates sensitive and confident localization of the targets of focal somatic copy-number alteration in human cancers

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5997246

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

26 August 2018

1 reference

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

26 August 2018

1 reference

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Somatic gene mutation and human disease other than cancer: an update

26 August 2018

1 reference

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Copy number variation and mosaicism.

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5997246

Detection of mosaic RB1 mutations in families with retinoblastoma

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5997246

Cell biology of embryonic migration

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5997246

Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP).

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5997246

Genetic fingerprinting in mouthwashes of patients after allogeneic bone marrow transplantation

26 August 2018

1 reference

12 December 2020

Disease-associated CIAS1 mutations induce monocyte death, revealing low-level mosaicism in mutation-negative cryopyrin-associated periodic syndrome patients

1 reference

12 December 2020

Somatic mosaicism for copy number variation in differentiated human tissues

1 reference

12 December 2020

The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations

1 reference

12 December 2020

No evidence for mosaic pathogenic copy number variations in cardiac tissue from patients with congenital heart malformations

1 reference

12 December 2020

10.1007/S00439-018-1871-6

Identifiers

DOI

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29417219%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29417219%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

1 reference

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