213 results on '"Fairbrother, William G."'
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2. The unusual gene architecture of polyubiquitin is created by dual-specific splice sites
3. Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes
4. A functional link between lariat debranching enzyme and the intron-binding complex is defective in non-photosensitive trichothiodystrophy
5. Activation of human RNA lariat debranching enzyme Dbr1 by binding protein TTDN1 occurs though an intrinsically disordered C-terminal domain
6. Deep RNA sequencing of intensive care unit patients with COVID-19
7. Efficient Detection of Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) from Exhaled Breath
8. Hotspot exons are common targets of splicing perturbations
9. Alternative RNA splicing and alternative transcription start/end in acute respiratory distress syndrome
10. Association between regulator of G protein signaling 9-2 and body weight.
11. Predictive Identification of Exonic Splicing Enhancers in Human Genes
12. Mutational bias and the protein code shape the evolution of splicing enhancers
13. ShapeShifter: a novel approach for identifying and quantifying stable lariat intronic species in RNAseq data
14. Large-scale functional screen identifies genetic variants with splicing effects in modern and archaic humans
15. Large scale functional screen identifies genetic variants with splicing effects in modern and archaic humans
16. Genetic Variation and RNA Binding Proteins: Tools and Techniques to Detect Functional Polymorphisms
17. MMSplice: modular modeling improves the predictions of genetic variant effects on splicing
18. Identification and mechanistic basis of non-ACE2 blocking neutralizing antibodies from COVID-19 patients with deep RNA sequencing and molecular dynamics simulations
19. Crystal Structure of the RNA Lariat Debranching Enzyme Dbr1 with Hydrolyzed Phosphorothioate RNA Product
20. Defective splicing of the RB1 transcript is the dominant cause of retinoblastomas
21. Large scale functional screen identifies genetic variants with splicing effects in modern and archaic humans
22. Large scale functional screen identifies genetic variants with splicing effects in modern and archaic humans
23. A condensate forming tether for lariat debranching enzyme is defective in non-photosensitive trichothiodystrophy
24. Changes in the process of alternative RNA splicing results in soluble B and T lymphocyte attenuator with biological and clinical implications in critical illness
25. The importance of p53 pathway genetics in inherited and somatic cancer genomes
26. Metal content and kinetic properties of yeast RNA lariat debranching enzyme Dbr1
27. Using positional distribution to identify splicing elements and predict pre-mRNA processing defects in human genes
28. Massively parallel reporter assays discover de novo exonic splicing mutants in paralogs of Autism genes
29. Genetic Variation and RNA Binding Proteins: Tools and Techniques to Detect Functional Polymorphisms
30. Additional file 4 of Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes
31. Deep RNA Sequencing of Intensive Care Unit Patients with COVID-19
32. Deep RNA Sequencing of Intensive Care Unit Patients with COVID-19
33. Additional file 1 of MMSplice: modular modeling improves the predictions of genetic variant effects on splicing
34. RESCUE-ESE identifies candidate exonic splicing enhancers in vertebrate exons
35. Intronic RNA: Ad‘junk’ mediator of post-transcriptional gene regulation
36. Assessing predictions of the impact of variants on splicing in CAGI5
37. Future directions for high‐throughput splicing assays in precision medicine
38. Modular modeling improves the predictions of genetic variant effects on splicing
39. Hereditary cancer genes are highly susceptible to splicing mutations
40. Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection
41. A general mechanism for transcription regulation by Oct1 and Oct4 in response to genotoxic and oxidative stress
42. The effects of structure on pre-mRNA processing and stability
43. Widespread intra-dependencies in the removal of introns from human transcripts
44. Pathogenic variants that alter protein code often disrupt splicing
45. Messenger RNA Splicing Signals
46. Large-scale analysis of branchpoint usage across species and cell lines
47. Soluble programmed cell death receptor-1 (sPD-1): a potential biomarker with anti-inflammatory properties in human and experimental acute respiratory distress syndrome (ARDS)
48. RNA structure in splicing: An evolutionary perspective
49. RNA structure replaces the need for U2AF2 in splicing
50. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
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