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Karla R. Bowles

Baylor College of Medicine

49

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3778

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Interpretation of BRCA2 Splicing Variants: A Case Series of Challenging Variant Interpretations and the Importance of Functional RNA Analysis.

2021 Familial Cancer
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Impact of a Cancer Gene Variant Reclassification Program Over a 20-Year Period

2020
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A Substantial Proportion of Apparently Heterozygous TP53 Pathogenic Variants Detected with a Next‐Generation Sequencing Hereditary Pan‐Cancer Panel Are Acquired Somatically

2019 Human Mutation
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Hereditary cancer testing challenges: assembling the analytical pieces to solve the patient clinical puzzle

2019 Future Oncology
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Complexities of Variant Classification in Clinical Hereditary Cancer Genetic Testing

2017 Journal of Clinical Oncology
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Pan-cancer panel testing in individuals with abnormal immunohistochemistry (IHC) staining of the mismatch-repair (MMR) genes.

2017 Journal of Clinical Oncology
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Identification of pathogenic retrotransposon insertions in cancer predisposition genes.

2017 Cancer Genetics and Cytogenetics
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Classification of genetic variants in genes associated with Lynch syndrome using a clinical history weighting algorithm

2016 BMC Genetics
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Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

2015 Gastroenterology
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Exceptions to the rule: Case studies in the prediction of pathogenicity for genetic variants in hereditary cancer genes

2015 Clinical Genetics
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