On the public citation graph
Base-specific mutational intolerance near splice-sites clarifies role of non-essential splice nucleotides
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What this work says
Outgoing claims: the papers this work cites, builds on, or argues with.
inferredcites →https://doi.org/10.1002/0470114754openalex-snapshot
An Introduction to Categorical Data Analysis
inferredcites →https://doi.org/10.1002/humu.22428openalex-snapshot
Functional Analysis of a Large set of BRCA2 exon 7 Variants Highlights the Predictive Value of Hexamer Scores in Detecting Alterations of Exonic Splicing Regulatory Elements
inferredcites →https://doi.org/10.1016/j.cell.2014.11.035openalex-snapshot
A Highly Conserved Program of Neuronal Microexons Is Misregulated in Autistic Brains
inferredcites →https://doi.org/10.1016/j.neuron.2015.05.004openalex-snapshot
Alternative Splicing in the Mammalian Nervous System: Recent Insights into Mechanisms and Functional Roles
inferredcites →https://doi.org/10.1038/nature04422openalex-snapshot
Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1
inferredcites →https://doi.org/10.1038/nature12531openalex-snapshot
Transcriptome and genome sequencing uncovers functional variation in humans
inferredcites →https://doi.org/10.1038/nature19057openalex-snapshot
Analysis of protein-coding genetic variation in 60,706 humans
inferredcites →https://doi.org/10.1038/nbt0102-47openalex-snapshot
Partial correction of endogenous ΔF508 CFTR in human cystic fibrosis airway epithelia by spliceosome-mediated RNA trans-splicing
inferredcites →https://doi.org/10.1038/ng.3789openalex-snapshot
Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples
inferredcites →https://doi.org/10.1038/ng.3831openalex-snapshot
Estimating the selective effects of heterozygous protein-truncating variants from human exome data
inferredcites →https://doi.org/10.1038/nn.4402openalex-snapshot
Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia
inferredcites →https://doi.org/10.1093/nar/15.17.7155openalex-snapshot
RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression
inferredcites →https://doi.org/10.1093/nar/gku736openalex-snapshot
Genomic HEXploring allows landscaping of novel potential splicing regulatory elements
inferredcites →https://doi.org/10.1101/gad.1973010openalex-snapshot
Alternative pre-mRNA splicing regulation in cancer: pathways and programs unhinged
inferredcites →https://doi.org/10.1101/gad.256115.114openalex-snapshot
Essential roles for the splicing regulator nSR100/SRRM4 during nervous system development
inferredcites →https://doi.org/10.1126/science.1254806openalex-snapshot
The human splicing code reveals new insights into the genetic determinants of disease
inferredcites →https://doi.org/10.1126/science.1261877openalex-snapshot
Effect of predicted protein-truncating genetic variants on the human transcriptome
inferredcites →https://doi.org/10.1126/science.1262110openalex-snapshot
The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans
inferredcites →https://doi.org/10.1126/science.aad9417openalex-snapshot
RNA splicing is a primary link between genetic variation and disease
inferredcites →https://doi.org/10.1371/journal.pgen.1005756openalex-snapshot
Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools
inferredcites →https://doi.org/10.1371/journal.pgen.1006033openalex-snapshot
A Syntenic Cross Species Aneuploidy Genetic Screen Links RCAN1 Expression to β-Cell Mitochondrial Dysfunction in Type 2 Diabetes
What points at this work
Incoming claims: where this work appears in other papers’ reference lists and arguments.
inferred← citeshttps://doi.org/10.1038/s41431-020-00715-7openalex-snapshot
Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy
inferred← citeshttps://doi.org/10.1038/s41467-019-10717-9openalex-snapshot
Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals
inferred← citeshttps://doi.org/10.1038/s41576-023-00574-0openalex-snapshot
Mendelian inheritance revisited: dominance and recessiveness in medical genetics
inferred← citeshttps://doi.org/10.1038/s41592-024-02502-4openalex-snapshot
A benchmarked, high-efficiency prime editing platform for multiplexed dropout screening
inferred← citeshttps://doi.org/10.1101/445874openalex-snapshot
Comparative genetic architectures of schizophrenia in East Asian and European populations
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