Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria
2022 · The American Journal of Human Genetics · 471 citations
https://doi.org/10.1016/j.ajhg.2022.10.013
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Jessica L. Mester
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Jessica L. Mester is an academic researcher. The author has contributed to research in topics: PI3K/AKT/mTOR signaling in cancer & Cancer Genomics and Diagnostics & BRCA gene mutations in cancer. The author has an h-index of 32, co-authored 79 publications.
ORCID: 0000-0001-9374-3185Papers by this author
worksUsing the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup
2023 · The American Journal of Human Genetics · 254 citations
https://doi.org/10.1016/j.ajhg.2023.06.002
Specifications of the ACMG/AMP variant interpretation guidelines for germline <i>TP53</i> variants
2020 · Human Mutation · 162 citations
https://doi.org/10.1002/humu.24152
KLLN epigenotype–phenotype associations in Cowden syndrome
2015 · European Journal of Human Genetics · 25 citations
https://doi.org/10.1038/ejhg.2015.8
Suggested application of HER2+ breast tumor phenotype for germline <i>TP53</i> variant classification within ACMG/AMP guidelines
2020 · Human Mutation · 22 citations
https://doi.org/10.1002/humu.24060
Germline compound heterozygous poly-glutamine deletion in<i>USF3</i>may be involved in predisposition to heritable and sporadic epithelial thyroid carcinoma
2016 · Human Molecular Genetics · 18 citations
https://doi.org/10.1093/hmg/ddw382
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