Whole-genome sequencing of patients with rare diseases in a national health system
2020 · Nature · 568 citations
https://doi.org/10.1038/s41586-020-2434-2
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John Taylor
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John Taylor is an academic researcher from UCLouvain Saint-Louis Brussels. The author has contributed to research in topics: Genomics and Rare Diseases & Genomic variations and chromosomal abnormalities & Genetic factors in colorectal cancer. The author has an h-index of 22, co-authored 37 publications.
ORCID: 0000-0002-6210-6965Papers by this author
worksGermline selection shapes human mitochondrial DNA diversity
2019 · Science · 247 citations
https://doi.org/10.1126/science.aau6520
On computer-assisted analysis of biological sequences: proline punctuation, consensus sequences, and apolipoprotein repeats.
1990 · Journal of Lipid Research · 98 citations
https://doi.org/10.1016/s0022-2275(20)38761-7
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases
2023 · Genome Medicine · 66 citations
https://doi.org/10.1186/s13073-023-01240-0
Delineation of dominant and recessive forms of <i>LZTR1</i>‐associated Noonan syndrome
2019 · Clinical Genetics · 62 citations
https://doi.org/10.1111/cge.13533
The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature
2018 · Genetics in Medicine · 61 citations
https://doi.org/10.1038/s41436-018-0339-3
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