William G. Fairbrother
Brown University(US)
Publications by Year
Research Areas
RNA Research and Splicing, RNA modifications and cancer, RNA and protein synthesis mechanisms, Genomics and Rare Diseases, Epigenetics and DNA Methylation
Most-Cited Works
- → Predictive Identification of Exonic Splicing Enhancers in Human Genes(2002)1,038 cited
- → An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge(2014)432 cited
- → Using positional distribution to identify splicing elements and predict pre-mRNA processing defects in human genes(2011)283 cited
- → RESCUE-ESE identifies candidate exonic splicing enhancers in vertebrate exons(2004)278 cited
- → MMSplice: modular modeling improves the predictions of genetic variant effects on splicing(2019)265 cited
- → Pathogenic variants that alter protein code often disrupt splicing(2017)261 cited
- → Recessive truncating titin gene, TTN , mutations presenting as centronuclear myopathy(2013)216 cited
- → Single Nucleotide Polymorphism–Based Validation of Exonic Splicing Enhancers(2004)187 cited
- → The importance of p53 pathway genetics in inherited and somatic cancer genomes(2016)147 cited
- → Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection(2018)131 cited