John Taylor
UCLouvain Saint-Louis Brussels(BE)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Genetic factors in colorectal cancer, Cancer Genomics and Diagnostics, RNA modifications and cancer
Most-Cited Works
- → Factors influencing success of clinical genome sequencing across a broad spectrum of disorders(2015)386 cited
- → The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom(2019)242 cited
- → Diagnostic value of exome and whole genome sequencing in craniosynostosis(2016)120 cited
- → On computer-assisted analysis of biological sequences: proline punctuation, consensus sequences, and apolipoprotein repeats.(1990)98 cited
- → A Recurrent Mosaic Mutation in SMO , Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome(2016)91 cited
- → Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders(2017)76 cited
- → “Not pathogenic until proven otherwise”: perspectives of UK clinical genomics professionals toward secondary findings in context of a Genomic Medicine Multidisciplinary Team and the 100,000 Genomes Project(2017)71 cited
- → Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases(2023)66 cited
- → Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome(2019)62 cited
- → The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature(2018)61 cited