EM-mosaic detects mosaic point mutations that contribute to congenital heart disease
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Title
EM-mosaic detects mosaic point mutations that contribute to congenital heart disease
Authors
Keywords
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Journal
Genome Medicine
Volume 12, Issue 1, Pages -
Publisher
Springer Science and Business Media LLC
Online
2020-04-29
DOI
10.1186/s13073-020-00738-1
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Note: Only part of the references are listed.- Predicting Splicing from Primary Sequence with Deep Learning
- (2019) Kishore Jaganathan et al. CELL
- Tissue-specific mosaicism in hereditary hemorrhagic telangiectasia: Implications for genetic testing in families
- (2018) Jamie McDonald et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Robust identification of mosaic variants in congenital heart disease
- (2018) Kathryn B. Manheimer et al. HUMAN GENETICS
- Distinct epigenomic patterns are associated with haploinsufficiency and predict risk genes of developmental disorders
- (2018) Xinwei Han et al. Nature Communications
- A computational approach to distinguish somatic vs. germline origin of genomic alterations from deep sequencing of cancer specimens without a matched normal
- (2018) James X. Sun et al. PLoS Computational Biology
- The UCSC Genome Browser database: 2019 update
- (2018) Maximilian Haeussler et al. NUCLEIC ACIDS RESEARCH
- CADD: predicting the deleteriousness of variants throughout the human genome
- (2018) Philipp Rentzsch et al. NUCLEIC ACIDS RESEARCH
- COSMIC: the Catalogue Of Somatic Mutations In Cancer
- (2018) John G Tate et al. NUCLEIC ACIDS RESEARCH
- High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders
- (2017) Mary Beth Stosser et al. GENETICS IN MEDICINE
- Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations
- (2017) Yanmei Dou et al. HUMAN MUTATION
- Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands
- (2017) Sheng Chih Jin et al. NATURE GENETICS
- Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
- (2017) Elaine T Lim et al. NATURE NEUROSCIENCE
- MosaicHunter: accurate detection of postzygotic single-nucleotide mosaicism through next-generation sequencing of unpaired, trio, and paired samples
- (2017) August Yue Huang et al. NUCLEIC ACIDS RESEARCH
- Mouse Genome Database (MGD)-2018: knowledgebase for the laboratory mouse
- (2017) Cynthia L Smith et al. NUCLEIC ACIDS RESEARCH
- REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants
- (2016) Nilah M. Ioannidis et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Somatic mosaicism for a lethalTRPV4mutation results in non-lethal metatropic dysplasia
- (2016) Michael M. Weinstein et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs
- (2016) Xiaoming Liu et al. HUMAN MUTATION
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- The ExAC browser: displaying reference data information from over 60 000 exomes
- (2016) Konrad J. Karczewski et al. NUCLEIC ACIDS RESEARCH
- The mouse Gene Expression Database (GXD): 2017 update
- (2016) Jacqueline H. Finger et al. NUCLEIC ACIDS RESEARCH
- TP53 mutation variant allele frequency is a potential predictor for clinical outcome of patients with lower-risk myelodysplastic syndromes
- (2016) Monika Belickova et al. Oncotarget
- The Contribution of Mosaic Variants to Autism Spectrum Disorder
- (2016) Donald Freed et al. PLoS Genetics
- Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation
- (2015) Rocio Acuna-Hidalgo et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Endothelial Chromosome 13 Deletion in Congenital Heart Disease–associated Pulmonary Arterial Hypertension DysregulatesSMAD9Signaling
- (2015) Kylie M. Drake et al. AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
- SomVarIUS: somatic variant identification from unpaired tissue samples
- (2015) Kyle S. Smith et al. BIOINFORMATICS
- Rare variants inSOS2andLZTR1are associated with Noonan syndrome
- (2015) Guilherme Lopes Yamamoto et al. JOURNAL OF MEDICAL GENETICS
- Impact of TP53 mutation variant allele frequency on phenotype and outcomes in myelodysplastic syndromes
- (2015) D A Sallman et al. LEUKEMIA
- A global reference for human genetic variation
- (2015) Richard A. Gibbs et al. NATURE
- Genome-wide patterns and properties of de novo mutations in humans
- (2015) Laurent C Francioli et al. NATURE GENETICS
- Reference sequence (RefSeq) database at NCBI: current status, taxonomic expansion, and functional annotation
- (2015) Nuala A. O'Leary et al. NUCLEIC ACIDS RESEARCH
- De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies
- (2015) J. Homsy et al. SCIENCE
- The alternative splicing factor Nova2 regulates vascular development and lumen formation
- (2015) Costanza Giampietro et al. Nature Communications
- Toward better understanding of artifacts in variant calling from high-coverage samples
- (2014) Heng Li BIOINFORMATICS
- Mosaicism for Dominant Collagen 6 Mutations as a Cause for Intrafamilial Phenotypic Variability
- (2014) Sandra Donkervoort et al. HUMAN MUTATION
- Somatic Mutations in Cerebral Cortical Malformations
- (2014) Saumya S. Jamuar et al. NEW ENGLAND JOURNAL OF MEDICINE
- Clonal Hematopoiesis and Blood-Cancer Risk Inferred from Blood DNA Sequence
- (2014) Giulio Genovese et al. NEW ENGLAND JOURNAL OF MEDICINE
- Age-Related Clonal Hematopoiesis Associated with Adverse Outcomes
- (2014) Siddhartha Jaiswal et al. NEW ENGLAND JOURNAL OF MEDICINE
- KCTD10 Is Involved in the Cardiovascular System and Notch Signaling during Early Embryonic Development
- (2014) Kaiqun Ren et al. PLoS One
- Kctd10 regulates heart morphogenesis by repressing the transcriptional activity of Tbx5a in zebrafish
- (2014) Xiangjun Tong et al. Nature Communications
- KCTD20, a relative of BTBD10, is a positive regulator of Akt
- (2013) Mikiro Nawa et al. BMC BIOCHEMISTRY
- A novel mutation inKIAA0196: identification of a gene involved in Ritscher–Schinzel/3C syndrome in a First Nations cohort
- (2013) Alison M Elliott et al. JOURNAL OF MEDICAL GENETICS
- Genetics and Genomics of Pulmonary Arterial Hypertension
- (2013) Florent Soubrier et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- De novo mutations in histone-modifying genes in congenital heart disease
- (2013) Samir Zaidi et al. NATURE
- Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples
- (2013) Kristian Cibulskis et al. NATURE BIOTECHNOLOGY
- DeNovoGear: de novo indel and point mutation discovery and phasing
- (2013) Avinash Ramu et al. NATURE METHODS
- A genomic view of mosaicism and human disease
- (2013) Leslie G. Biesecker et al. NATURE REVIEWS GENETICS
- Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome
- (2012) Kyle C. Kurek et al. AMERICAN JOURNAL OF HUMAN GENETICS
- The pathogenesis of atrial and atrioventricular septal defects with special emphasis on the role of the dorsal mesenchymal protrusion
- (2012) Laura E. Briggs et al. DIFFERENTIATION
- Role of the Wnt-Frizzled system in cardiac pathophysiology: a rapidly developing, poorly understood area with enormous potential
- (2012) Kristin Dawson et al. JOURNAL OF PHYSIOLOGY-LONDON
- Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA
- (2012) Marjorie J Lindhurst et al. NATURE GENETICS
- 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
- De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly
- (2012) Jeong Ho Lee et al. NATURE GENETICS
- Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations
- (2012) Annapurna Poduri et al. NEURON
- ISL1 Directly Regulates FGF10 Transcription during Human Cardiac Outflow Formation
- (2012) Christelle Golzio et al. PLoS One
- Somatic mosaicism contributes to phenotypic variation in Timothy syndrome
- (2011) Susan P. Etheridge et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data
- (2011) H. Li BIOINFORMATICS
- Integrative genomics viewer
- (2011) James T Robinson et al. NATURE BIOTECHNOLOGY
- A framework for variation discovery and genotyping using next-generation DNA sequencing data
- (2011) Mark A DePristo et al. NATURE GENETICS
- The allele distribution in next-generation sequencing data sets is accurately described as the result of a stochastic branching process
- (2011) Verena Heinrich et al. NUCLEIC ACIDS RESEARCH
- The McCune-Albright syndrome: a lethal gene surviving by mosaicism
- (2010) R. Happle CLINICAL GENETICS
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
- (2010) A. McKenna et al. GENOME RESEARCH
- The Simons Simplex Collection: A Resource for Identification of Autism Genetic Risk Factors
- (2010) Gerald D. Fischbach et al. NEURON
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- (2010) K. Wang et al. NUCLEIC ACIDS RESEARCH
- Common Variation in ISL1 Confers Genetic Susceptibility for Human Congenital Heart Disease
- (2010) Kristen N. Stevens et al. PLoS One
- Histone H3 lysine 36 methyltransferase Hypb/Setd2 is required for embryonic vascular remodeling
- (2010) M. Hu et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Developmental expression profile ofquaking, a candidate gene for schizophrenia, and its target genes in human prefrontal cortex and hippocampus shows regional specificity
- (2007) Tara L. Lauriat et al. JOURNAL OF NEUROSCIENCE RESEARCH
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