Search Results - Kelly McGoldrick
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Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN by Shawn Fayer, Carolyn Horton, Jennifer N. Dines, Alan F. Rubin, Marcy E. Richardson, Kelly McGoldrick, Felicia Hernandez, Tina Pesaran, Rachid Karam, Brian H. Shirts, Douglas M. Fowler, Lea M. Starita
Published 2021Artigo -
2
Suggested application of HER2+ breast tumor phenotype for germline <i>TP53</i> variant classification within ACMG/AMP guidelines by Cristina Fortuño, Jessica L. Mester, Tina Pesaran, Jeffrey N. Weitzel, Jill S. Dolinsky, Amal Yussuf, Kelly McGoldrick, Judy E. Garber, Sharon A. Savage, Payal P. Khincha, D. Gareth Evans, Maria Isabel Achatz, Kim E. Nichols, Kara N. Maxwell, Joshua D. Schiffman, Renata Lazari Sandoval, Paul A. James, Amanda B. Spurdle
Published 2020Artigo -
3
Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer by Rachid Karam, Blair R. Conner, Holly LaDuca, Kelly McGoldrick, Kate Krempely, Marcy E. Richardson, Heather Zimmermann, Stephanie Gutierrez, Patrick Reineke, Lily Hoang, Kyle Allen, Amal Yussuf, Suzette Farber-Katz, Huma Q. Rana, Samantha Culver, John Lee, Sarah Nashed, Deborah Toppmeyer, Debra L. Collins, Ginger Haynes, Tina Pesaran, Jill S. Dolinsky, Brigette Tippin Davis, Aaron Elliott, Elizabeth Chao
Published 2019Artigo -
4
Specifications of the ACMG/AMP variant interpretation guidelines for germline <i>TP53</i> variants by Cristina Fortuño, Kristy Lee, Magali Olivier, Tina Pesaran, L. Phuong, Kelvin C. de Andrade, Laura D. Attardi, Stephanie B. Crowley, D. Gareth Evans, Bing Feng, Ann Katherine M. Foreman, Megan N. Frone, Robert Huether, Paul A. James, Kelly McGoldrick, Jessica L. Mester, Bryce A. Seifert, Thomas P. Slavin, Leora Witkowski, Liying Zhang, Sharon E. Plon, Amanda B. Spurdle, Sharon A. Savage
Published 2020Artigo
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Bioinformatics
Biology
Cancer
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Germline
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Internal medicine
Malignancy
Medical genetics
Molecular pathology
Mutation
Oncology
Phenotype
Apoptosis
Breast cancer
Clinical significance
Colorectal cancer
Computational biology
DNA mismatch repair
Genetic testing
Genome
Genomics
Li–Fraumeni syndrome
Lynch syndrome
Ovarian cancer
PI3K/AKT/mTOR pathway
PTEN
Pathology