selected publications
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Comprehensive analysis of germline drivers in endometrial cancer.
Journal of the National Cancer Institute.
2023
Academic Article
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Times cited: 6 - Germline drivers of gynecologic carcinosarcomas. Gynecologic oncology. 2023 Academic Article GET IT
- Early-Onset GI Cancers: Rising Trends, Genetic Risks, Novel Strategies, and Special Considerations. American Society of Clinical Oncology educational book. American Society of Clinical Oncology. Annual Meeting. 2023 Academic Article GET IT
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Prevalence and Clinical Implications of Mismatch Repair-Proficient Colorectal Cancer in Patients With Lynch Syndrome.
JCO precision oncology.
2023
Academic Article
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Times cited: 2 - Characterization of a germline variant MSH6 c.4001G > C in a Lynch syndrome family. 2023 GET IT
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Expanded genetic testing of GIST patients identifies high proportion of non-syndromic patients with germline alterations.
NPJ precision oncology.
2023
Academic Article
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Times cited: 9 -
An updated counseling framework for moderate-penetrance colorectal cancer susceptibility genes.
Genetics in medicine : official journal of the American College of Medical Genetics.
2022
Review
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Times cited: 1 -
Gene-based Confirmatory Germline Testing Following Tumor-only Sequencing of Prostate Cancer.
European urology.
2022
Academic Article
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Times cited: 1 - Disparities in cancer genetics care by race/ethnicity among pan-cancer patients with pathogenic germline variants. Cancer. 2022 Academic Article GET IT
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Diagnostic yield and clinical relevance of expanded genetic testing for cancer patients.
Genome medicine.
2022
Academic Article
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Times cited: 16 - Germline Pathogenic Variants Impact Clinicopathology of Advanced Lung Cancer. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology. 2022 Academic Article GET IT
- Early age of onset and broad cancer spectrum persist in MSH6- and PMS2-associated Lynch syndrome. Genetics in medicine : official journal of the American College of Medical Genetics. 2022 Academic Article GET IT
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Paired Tumor-Normal Sequencing Provides Insights Into the TP53-Related Cancer Spectrum in Patients With Li-Fraumeni Syndrome.
Journal of the National Cancer Institute.
2021
Academic Article
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Times cited: 9 - Effectiveness of a surveillance program of upper endoscopy for upper gastrointestinal cancers in Lynch syndrome patients. International journal of colorectal disease. 2021 Academic Article GET IT
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Germline Variants Identified in Patients with Early-onset Renal Cell Carcinoma Referred for Germline Genetic Testing.
European urology oncology.
2021
Academic Article
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Times cited: 20 -
Therapeutic Implications of Germline Testing in Patients With Advanced Cancers.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology.
2021
Academic Article
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Times cited: 81 -
Prevalence and Characterization of Biallelic and Monoallelic NTHL1 and MSH3 Variant Carriers From a Pan-Cancer Patient Population.
JCO precision oncology.
2021
Academic Article
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Times cited: 11 -
Prospective pan-cancer germline testing using MSK-IMPACT informs clinical translation in 751 patients with pediatric solid tumors.
Nature cancer.
2021
Academic Article
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Times cited: 98 -
Characterization and Clinical Outcomes of DNA Mismatch Repair-deficient Small Bowel Adenocarcinoma.
Clinical cancer research : an official journal of the American Association for Cancer Research.
2020
Academic Article
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Times cited: 24 -
Phenotypic Differences in Juvenile Polyposis Syndrome With or Without a Disease-causing SMAD4/BMPR1A Variant.
Cancer prevention research (Philadelphia, Pa.).
2020
Academic Article
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Times cited: 30 - Utilization of clinical genetic counseling among childhood and young adult cancer survivors in a registry trial. Journal of community genetics. 2020 Academic Article GET IT
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11p15.5 epimutations in children with Wilms tumor and hepatoblastoma detected in peripheral blood.
Cancer.
2020
Academic Article
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Times cited: 22 -
Retained mismatch repair protein expression occurs in approximately 6% of microsatellite instability-high cancers and is associated with missense mutations in mismatch repair genes.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc.
2019
Academic Article
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Times cited: 65 -
Clinical outcomes of patients with POLE mutated endometrioid endometrial cancer.
Gynecologic oncology.
2019
Academic Article
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Times cited: 38 -
Pathogenic Loss-of-Function Germline TERT Mutations in Patients With Solid Tumors.
2019
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Times cited: 2 -
Microsatellite Instability Is Associated With the Presence of Lynch Syndrome Pan-Cancer.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology.
2018
Academic Article
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Times cited: 414