Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project
2018 · Genetics in Medicine · 168 citations
https://doi.org/10.1038/gim.2017.241
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Joanne Mason
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Joanne Mason is an academic researcher from Birmingham Women’s and Children’s NHS Foundation Trust. The author has contributed to research in topics: Cancer Genomics and Diagnostics & Acute Myeloid Leukemia Research & Chronic Lymphocytic Leukemia Research. The author has an h-index of 28, co-authored 61 publications.
Papers by this author
worksThe complex genetic landscape of familial MDS and AML reveals pathogenic germline variants
2020 · Nature Communications · 115 citations
https://doi.org/10.1038/s41467-020-14829-5
Integration of next-generation sequencing in clinical diagnostic molecular pathology laboratories for analysis of solid tumours; an expert opinion on behalf of IQN Path ASBL
2016 · Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin · 105 citations
https://doi.org/10.1007/s00428-016-2025-7
Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis
2020 · Neuron · 82 citations
https://doi.org/10.1016/j.neuron.2020.11.005
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
Targeted resequencing analysis of 31 genes commonly mutated in myeloid disorders in serial samples from myelodysplastic syndrome patients showing disease progression
2015 · Leukemia · 54 citations
https://doi.org/10.1038/leu.2015.129
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