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Elizabeth Chao

Showing results (31-40 of 43) with videos related to

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JCO Precision Oncology|February 17, 2022
Unexpected <i>CDH1</i> Mutations Identified on Multigene Panels Pose Clinical Management ChallengesKatrina Lowstuter, Carin R Espenschied, Duveen Sturgeon, et al.
American Journal of Human Genetics|February 20, 2021
Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significanceMarcy E Richardson, Chunling Hu, Kun Y Lee, et al.
Human Mutation|October 13, 2018
Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genesMichael F Walsh, Deborah I Ritter, Chimene Kesserwan, et al.
European Journal of Cancer (Oxford, England : 1990)|January 21, 2014
Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortiumDoua Bakry, Melyssa Aronson, Carol Durno, et al.
Journal of Medical Genetics|June 11, 2020
<i>NUBPL</i> mitochondrial disease: new patients and review of the genetic and clinical spectrumVirginia Kimonis, Rehab Al Dubaisi, Andrew E Maclean, et al.
JAMA Network Open|October 24, 2019
Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary CancerRachid Karam, Blair Conner, Holly LaDuca, et al.
Human Mutation|October 13, 2018
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variantsKristy Lee, Kate Krempely, Maegan E Roberts, et al.
Nature Communications|April 1, 2025
A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associationsAnton Safonov, Tomoki T Nomakuchi, Elizabeth Chao, et al.
Cancer Research|May 30, 2023
Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51CChunling Hu, Anil Belur Nagaraj, Hermela Shimelis, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|October 21, 2021
Germline Pathogenic Variants in Cancer Predisposition Genes Among Women With Invasive Lobular Carcinoma of the BreastSiddhartha Yadav, Chunling Hu, Katherine L Nathanson, et al.
Pageof 5

Showing results (31-40 of 43) with videos related to

Sort By:
Pageof 5
JCO Precision Oncology|February 17, 2022
Unexpected <i>CDH1</i> Mutations Identified on Multigene Panels Pose Clinical Management ChallengesKatrina Lowstuter, Carin R Espenschied, Duveen Sturgeon, et al.
American Journal of Human Genetics|February 20, 2021
Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significanceMarcy E Richardson, Chunling Hu, Kun Y Lee, et al.
Human Mutation|October 13, 2018
Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genesMichael F Walsh, Deborah I Ritter, Chimene Kesserwan, et al.
European Journal of Cancer (Oxford, England : 1990)|January 21, 2014
Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortiumDoua Bakry, Melyssa Aronson, Carol Durno, et al.
Journal of Medical Genetics|June 11, 2020
<i>NUBPL</i> mitochondrial disease: new patients and review of the genetic and clinical spectrumVirginia Kimonis, Rehab Al Dubaisi, Andrew E Maclean, et al.
JAMA Network Open|October 24, 2019
Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary CancerRachid Karam, Blair Conner, Holly LaDuca, et al.
Human Mutation|October 13, 2018
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variantsKristy Lee, Kate Krempely, Maegan E Roberts, et al.
Nature Communications|April 1, 2025
A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associationsAnton Safonov, Tomoki T Nomakuchi, Elizabeth Chao, et al.
Cancer Research|May 30, 2023
Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51CChunling Hu, Anil Belur Nagaraj, Hermela Shimelis, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|October 21, 2021
Germline Pathogenic Variants in Cancer Predisposition Genes Among Women With Invasive Lobular Carcinoma of the BreastSiddhartha Yadav, Chunling Hu, Katherine L Nathanson, et al.
Pageof 5