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Early post-zygotic mutations contribute to congenital heart disease

https://doi.org/10.1101/733105
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What this work says

Outgoing claims: the papers this work cites, builds on, or argues with.

inferredcites →https://doi.org/10.1001/archderm.129.11.1460openalex-snapshot
Mosaicism in human skin. Understanding the patterns and mechanisms
inferredcites →https://doi.org/10.1002/ajmg.a.34223openalex-snapshot
Somatic mosaicism contributes to phenotypic variation in Timothy syndrome
inferredcites →https://doi.org/10.1002/ajmg.a.37942openalex-snapshot
Somatic mosaicism for a lethal TRPV4 mutation results in non‐lethal metatropic dysplasia
inferredcites →https://doi.org/10.1002/gene.10060openalex-snapshot
Quaking is essential for blood vessel development
inferredcites →https://doi.org/10.1002/gepi.20575openalex-snapshot
Efficient study design for next generation sequencing
inferredcites →https://doi.org/10.1002/humu.22691openalex-snapshot
Mosaicism for Dominant Collagen 6 Mutations as a Cause for Intrafamilial Phenotypic Variability
inferredcites →https://doi.org/10.1002/humu.23255openalex-snapshot
Postzygotic single‐nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations
inferredcites →https://doi.org/10.1002/jnr.21534openalex-snapshot
Developmental expression profile of quaking, a candidate gene for schizophrenia, and its target genes in human prefrontal cortex and hippocampus shows regional specificity
inferredcites →https://doi.org/10.1007/s00439-018-1871-6openalex-snapshot
Robust identification of mosaic variants in congenital heart disease
inferredcites →https://doi.org/10.1016/j.ajhg.2012.05.006openalex-snapshot
Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome
inferredcites →https://doi.org/10.1016/j.ajhg.2015.05.008openalex-snapshot
Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation
inferredcites →https://doi.org/10.1016/j.ajhg.2016.08.016openalex-snapshot
REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants
inferredcites →https://doi.org/10.1016/j.ajhg.2017.07.016openalex-snapshot
Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder
inferredcites →https://doi.org/10.1016/j.diff.2012.05.006openalex-snapshot
The pathogenesis of atrial and atrioventricular septal defects with special emphasis on the role of the dorsal mesenchymal protrusion
inferredcites →https://doi.org/10.1016/j.jacc.2013.10.035openalex-snapshot
Genetics and Genomics of Pulmonary Arterial Hypertension
inferredcites →https://doi.org/10.1016/j.neuron.2010.10.006openalex-snapshot
The Simons Simplex Collection: A Resource for Identification of Autism Genetic Risk Factors
inferredcites →https://doi.org/10.1016/j.neuron.2012.03.010openalex-snapshot
Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations
inferredcites →https://doi.org/10.1016/j.ydbio.2005.07.038openalex-snapshot
Left–right asymmetry and congenital cardiac defects: Getting to the heart of the matter in vertebrate left–right axis determination
inferredcites →https://doi.org/10.1016/s1534-5807(03)00363-0openalex-snapshot
Isl1 Identifies a Cardiac Progenitor Population that Proliferates Prior to Differentiation and Contributes a Majority of Cells to the Heart
inferredcites →https://doi.org/10.1038/gim.2017.114openalex-snapshot
High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders
inferredcites →https://doi.org/10.1038/leu.2015.304openalex-snapshot
Impact of TP53 mutation variant allele frequency on phenotype and outcomes in myelodysplastic syndromes
inferredcites →https://doi.org/10.1038/nature12141openalex-snapshot
De novo mutations in histone-modifying genes in congenital heart disease
inferredcites →https://doi.org/10.1038/nature19057openalex-snapshot
Analysis of protein-coding genetic variation in 60,706 humans
inferredcites →https://doi.org/10.1038/nbt.2514openalex-snapshot
Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples
inferredcites →https://doi.org/10.1038/ncomms4153openalex-snapshot
Kctd10 regulates heart morphogenesis by repressing the transcriptional activity of Tbx5a in zebrafish
inferredcites →https://doi.org/10.1038/ncomms5357openalex-snapshot
Plasmofluidic single-molecule surface-enhanced Raman scattering from dynamic assembly of plasmonic nanoparticles
inferredcites →https://doi.org/10.1038/ncomms8213openalex-snapshot
Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma
inferredcites →https://doi.org/10.1038/ncomms9479openalex-snapshot
The alternative splicing factor Nova2 regulates vascular development and lumen formation
inferredcites →https://doi.org/10.1038/ng.2329openalex-snapshot
De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly
inferredcites →https://doi.org/10.1038/ng.2331openalex-snapshot
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
inferredcites →https://doi.org/10.1038/ng.3292openalex-snapshot
Genome-wide patterns and properties of de novo mutations in humans
inferredcites →https://doi.org/10.1038/ng.3970openalex-snapshot
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands
inferredcites →https://doi.org/10.1038/ng.806openalex-snapshot
A framework for variation discovery and genotyping using next-generation DNA sequencing data
inferredcites →https://doi.org/10.1038/nmeth.2611openalex-snapshot
DeNovoGear: de novo indel and point mutation discovery and phasing
inferredcites →https://doi.org/10.1038/nn.4598openalex-snapshot
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
inferredcites →https://doi.org/10.1038/nrg3424openalex-snapshot
A genomic view of mosaicism and human disease
inferredcites →https://doi.org/10.1056/nejmoa1314432openalex-snapshot
Somatic Mutations in Cerebral Cortical Malformations
inferredcites →https://doi.org/10.1056/nejmoa1408617openalex-snapshot
Age-Related Clonal Hematopoiesis Associated with Adverse Outcomes
inferredcites →https://doi.org/10.1056/nejmoa1409405openalex-snapshot
Clonal Hematopoiesis and Blood-Cancer Risk Inferred from Blood DNA Sequence
inferredcites →https://doi.org/10.1073/pnas.0915033107openalex-snapshot
Histone H3 lysine 36 methyltransferase Hypb/Setd2 is required for embryonic vascular remodeling
inferredcites →https://doi.org/10.1093/bioinformatics/btp352openalex-snapshot
The Sequence Alignment/Map format and SAMtools
inferredcites →https://doi.org/10.1093/bioinformatics/btv685openalex-snapshot
SomVarIUS: somatic variant identification from unpaired tissue samples
inferredcites →https://doi.org/10.1093/hmg/4.4.541openalex-snapshot
Isolation and characterization of a novel gene deleted in DiGeorge syndrome
inferredcites →https://doi.org/10.1093/molbev/msi043openalex-snapshot
CpG Mutation Rates in the Human Genome Are Highly Dependent on Local GC Content
inferredcites →https://doi.org/10.1093/nar/gkr1073openalex-snapshot
The allele distribution in next-generation sequencing data sets is accurately described as the result of a stochastic branching process
inferredcites →https://doi.org/10.1093/nar/gkw1073openalex-snapshot
The mouse Gene Expression Database (GXD): 2017 update
inferredcites →https://doi.org/10.1093/nar/gkx024openalex-snapshot
MosaicHunter: accurate detection of postzygotic single-nucleotide mosaicism through next-generation sequencing of unpaired, trio, and paired samples
inferredcites →https://doi.org/10.1093/nar/gkx1006openalex-snapshot
Mouse Genome Database (MGD)-2018: knowledgebase for the laboratory mouse
inferredcites →https://doi.org/10.1101/gr.107524.110openalex-snapshot
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
inferredcites →https://doi.org/10.1111/j.1399-0004.1986.tb01261.xopenalex-snapshot
The McCune‐Albright syndrome: a lethal gene surviving by mosaicism
inferredcites →https://doi.org/10.1113/jphysiol.2012.235382openalex-snapshot
Role of the Wnt‐Frizzled system in cardiac pathophysiology: a rapidly developing, poorly understood area with enormous potential
inferredcites →https://doi.org/10.1126/science.aac9396openalex-snapshot
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies
inferredcites →https://doi.org/10.1136/heart.89.7.806openalex-snapshot
DEVELOPMENT OF THE HEART: (1) FORMATION OF THE CARDIAC CHAMBERS AND ARTERIAL TRUNKS
inferredcites →https://doi.org/10.1136/jmedgenet-2015-103018openalex-snapshot
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome
inferredcites →https://doi.org/10.1161/circresaha.116.309140openalex-snapshot
Genetics and Genomics of Congenital Heart Disease
inferredcites →https://doi.org/10.1164/rccm.201411-1985leopenalex-snapshot
Endothelial Chromosome 13 Deletion in Congenital Heart Disease–associated Pulmonary Arterial Hypertension Dysregulates SMAD9 Signaling
inferredcites →https://doi.org/10.1186/1471-2091-14-27openalex-snapshot
KCTD20, a relative of BTBD10, is a positive regulator of Akt
inferredcites →https://doi.org/10.1242/dev.161497openalex-snapshot
nkxgenes establish SHF cardiomyocyte progenitors at the arterial pole and pattern the venous pole through Isl1 repression
inferredcites →https://doi.org/10.1371/journal.pcbi.1005965openalex-snapshot
A computational approach to distinguish somatic vs. germline origin of genomic alterations from deep sequencing of cancer specimens without a matched normal
inferredcites →https://doi.org/10.1371/journal.pgen.1006245openalex-snapshot
The Contribution of Mosaic Variants to Autism Spectrum Disorder
inferredcites →https://doi.org/10.1371/journal.pone.0010855openalex-snapshot
Common Variation in ISL1 Confers Genetic Susceptibility for Human Congenital Heart Disease
inferredcites →https://doi.org/10.1371/journal.pone.0030677openalex-snapshot
ISL1 Directly Regulates FGF10 Transcription during Human Cardiac Outflow Formation
inferredcites →https://doi.org/10.1371/journal.pone.0112275openalex-snapshot
KCTD10 Is Involved in the Cardiovascular System and Notch Signaling during Early Embryonic Development
inferredcites →https://doi.org/10.18632/oncotarget.9200openalex-snapshot
TP53 mutation variant allele frequency is a potential predictor for clinical outcome of patients with lower-risk myelodysplastic syndromes
inferredcites →https://doi.org/10.4172/0974-8369.1000414openalex-snapshot
Further Evidence for the Implication of LZTR1, a Gene not Associated with the Ras-Mapk Pathway, in the Pathogenesis of Noonan Syndrome

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Incoming claims: where this work appears in other papers’ reference lists and arguments.

inferred← citeshttps://doi.org/10.1016/j.xhgg.2020.100008openalex-snapshot
Deep whole-genome sequencing of multiple proband tissues and parental blood reveals the complex genetic etiology of congenital diaphragmatic hernias
inferred← citeshttps://doi.org/10.1186/s13073-020-00738-1openalex-snapshot
EM-mosaic detects mosaic point mutations that contribute to congenital heart disease
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