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2024
Saliva, a molecular reflection of the human body? Implications for diagnosis and treatment
Cell Stress
2022
Determination of test performance of two contemporary screening tests for Lynch syndrome in endometrial cancer: A clinical trial
Gynecologic Oncology
2021
Molecular Approaches Using Body Fluid for the Early Detection of Pancreatic Cancer
Diagnostics
2021
Lack of familiarity with genetic testing among patients in Ireland with Cancer
Irish Journal of Medical Science (1971 -)
2019
Software-Assisted Manual Review of Clinical Next-Generation Sequencing Data
The Journal of Molecular Diagnostics
2019
Multigene panel testing in unselected Israeli breast cancer cases: mutational spectrum and use of BRCA1/2 mutation prediction algorithms
Breast Cancer Research and Treatment
2019
Sequencing as a first-line methodology for cystic fibrosis carrier screening
Genetics in Medicine
2019
A research-based gene panel to investigate breast, ovarian and prostate cancer genetic risk
PLOS ONE
2019
Screening for Tay‐Sachs disease carriers by full‐exon sequencing with novel variant interpretation outperforms enzyme testing in a pan‐ethnic cohort
Molecular Genetics & Genomic Medicine
2018
Inherited Cancer in the Age of Next-Generation Sequencing
Biological Research For Nursing
2018
A novel dual‐marker expression panel for easy and accurate risk stratification of patients with gastric cancer
Cancer Medicine
2018
Detecting clinically actionable variants in the 3′ exons of PMS2 via a reflex workflow based on equivalent hybrid capture of the gene and its pseudogene
BMC Medical Genetics
2018
Validation of an Expanded Carrier Screen that Optimizes Sensitivity via Full-Exon Sequencing and Panel-wide Copy Number Variant Identification
Clinical Chemistry
2018
A machine learning model to determine the accuracy of variant calls in capture-based next generation sequencing
BMC Genomics
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