Robust identification of mosaic variants in congenital heart disease
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Title
Robust identification of mosaic variants in congenital heart disease
Authors
Keywords
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Journal
HUMAN GENETICS
Volume 137, Issue 2, Pages 183-193
Publisher
Springer Nature
Online
2018-02-07
DOI
10.1007/s00439-018-1871-6
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Note: Only part of the references are listed.- Somatic mutations reveal asymmetric cellular dynamics in the early human embryo
- (2017) Young Seok Ju et al. NATURE
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- (2015) Johanna Winberg et al. European Journal of Medical Genetics
- De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies
- (2015) J. Homsy et al. SCIENCE
- A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing
- (2015) Tyler S. Alioto et al. Nature Communications
- The spectrum ofZEB2mutations causing the Mowat-Wilson syndrome in Japanese populations
- (2014) Yasukazu Yamada et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Increased Frequency of De Novo Copy Number Variants in Congenital Heart Disease by Integrative Analysis of Single Nucleotide Polymorphism Array and Exome Sequence Data
- (2014) Joseph T. Glessner et al. CIRCULATION RESEARCH
- Somatic Mosaicism and Disease
- (2014) Steven A. Frank CURRENT BIOLOGY
- The origin, mechanisms, incidence and clinical consequences of chromosomal mosaicism in humans
- (2014) Tyl H. Taylor et al. HUMAN REPRODUCTION UPDATE
- A general framework for estimating the relative pathogenicity of human genetic variants
- (2014) Martin Kircher et al. NATURE GENETICS
- Somatic Mutations in Cerebral Cortical Malformations
- (2014) Saumya S. Jamuar et al. NEW ENGLAND JOURNAL OF MEDICINE
- A Pathogenic Mosaic TP53 Mutation in Two Germ Layers Detected by Next Generation Sequencing
- (2014) Sam Behjati et al. PLoS One
- Enhanced Sensitivity for Detection of Low-Level Germline MosaicRB1Mutations in Sporadic Retinoblastoma Cases Using Deep Semiconductor Sequencing
- (2013) Zhao Chen et al. HUMAN MUTATION
- Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples
- (2013) Kristian Cibulskis et al. NATURE BIOTECHNOLOGY
- A genomic view of mosaicism and human disease
- (2013) Leslie G. Biesecker et al. NATURE REVIEWS GENETICS
- Discovery and characterization of artifactual mutations in deep coverage targeted capture sequencing data due to oxidative DNA damage during sample preparation
- (2013) Maura Costello et al. NUCLEIC ACIDS RESEARCH
- Detecting somatic point mutations in cancer genome sequencing data: a comparison of mutation callers
- (2013) Qingguo Wang et al. Genome Medicine
- JointSNVMix: a probabilistic model for accurate detection of somatic mutations in normal/tumour paired next-generation sequencing data
- (2012) Andrew Roth et al. BIOINFORMATICS
- Strelka: accurate somatic small-variant calling from sequenced tumor–normal sample pairs
- (2012) Christopher T. Saunders et al. BIOINFORMATICS
- MLL2mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome
- (2012) S Banka et al. CLINICAL GENETICS
- VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing
- (2012) D. C. Koboldt et al. GENOME RESEARCH
- De novo mutations revealed by whole-exome sequencing are strongly associated with autism
- (2012) Stephan J. Sanders et al. NATURE
- De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
- (2012) Jean-Baptiste Rivière et al. NATURE GENETICS
- SomaticSniper: identification of somatic point mutations in whole genome sequencing data
- (2011) David E. Larson et al. BIOINFORMATICS
- Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome
- (2011) Twinkal C Pansuriya et al. NATURE GENETICS
- Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
- (2011) Brian J O'Roak et al. NATURE GENETICS
- A framework for variation discovery and genotyping using next-generation DNA sequencing data
- (2011) Mark A DePristo et al. NATURE GENETICS
- A Mosaic Activating Mutation inAKT1Associated with the Proteus Syndrome
- (2011) Marjorie J. Lindhurst et al. NEW ENGLAND JOURNAL OF MEDICINE
- GISTIC2.0 facilitates sensitive and confident localization of the targets of focal somatic copy-number alteration in human cancers
- (2011) Craig H Mermel et al. GENOME BIOLOGY
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
- (2010) A. McKenna et al. GENOME RESEARCH
- Somatic gene mutation and human disease other than cancer: An update
- (2010) Robert P. Erickson MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH
- Copy number variation and mosaicism
- (2009) A.J. Notini et al. CYTOGENETIC AND GENOME RESEARCH
- Detection of mosaicRB1mutations in families with retinoblastoma
- (2009) Diane Rushlow et al. HUMAN MUTATION
- Somatic mosaicism for copy number variation in differentiated human tissues
- (2008) Arkadiusz Piotrowski et al. HUMAN MUTATION
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