Search Results - Edward D. Esplin

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  1. 1
    Personalized Sequencing and the Future of Medicine: Discovery, Diagnosis and Defeat of Disease

    Personalized Sequencing and the Future of Medicine: Discovery, Diagnosis and Defeat of Disease by Edward D. Esplin, Ling Oei, M Snyder

    Published 2014
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  2. 2
    Expanded Gene Panel Use for Women With Breast Cancer: Identification and Intervention Beyond Breast Cancer Risk

    Expanded Gene Panel Use for Women With Breast Cancer: Identification and Intervention Beyond Breast Cancer Risk by Erin O’Leary, Daniela Iacoboni, Jennifer Holle, Scott T. Michalski, Edward D. Esplin, Shan Yang, Karen Ouyang

    Published 2017
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  3. 3
    Multigene Panel Testing Yields High Rates of Clinically Actionable Variants Among Patients With Colorectal Cancer

    Multigene Panel Testing Yields High Rates of Clinically Actionable Variants Among Patients With Colorectal Cancer by Sarah Coughlin, Brandie Heald, Dana Clark, Sarah M. Nielsen, Kathryn E. Hatchell, Edward D. Esplin, Bryson W. Katona

    Published 2022
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  4. 4
    Points to consider for reporting of germline variation in patients undergoing tumor testing: a statement of the American College of Medical Genetics and Genomics (ACMG)

    Points to consider for reporting of germline variation in patients undergoing tumor testing: a statement of the American College of Medical Genetics and Genomics (ACMG) by Marilyn M. Li, Elizabeth Chao, Edward D. Esplin, David T. Miller, Katherine L. Nathanson, Sharon E. Plon, Maren T. Scheuner, Douglas R. Stewart

    Published 2020
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  5. 5
    Prevalence of Germline Variants in Prostate Cancer and Implications for Current Genetic Testing Guidelines

    Prevalence of Germline Variants in Prostate Cancer and Implications for Current Genetic Testing Guidelines by Piper Nicolosi, Elisa M. Ledet, Shan Yang, Scott T. Michalski, Brandy Freschi, Erin O’Leary, Edward D. Esplin, Robert L. Nussbaum, Oliver Sartor

    Published 2019
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  6. 6
    Yield and Utility of Germline Testing Following Tumor Sequencing in Patients With Cancer

    Yield and Utility of Germline Testing Following Tumor Sequencing in Patients With Cancer by Stephen E. Lincoln, Robert L. Nussbaum, Allison W. Kurian, Sarah M. Nielsen, Kingshuk Das, Scott T. Michalski, Shan Yang, Nhu Ngo, Amie Blanco, Edward D. Esplin

    Published 2020
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  7. 7
    Universal Germline Genetic Testing for Hereditary Cancer Syndromes in Patients With Solid Tumor Cancer

    Universal Germline Genetic Testing for Hereditary Cancer Syndromes in Patients With Solid Tumor Cancer by Edward D. Esplin, Sarah M. Nielsen, Sara L. Bristow, Judy E. Garber, Heather Hampel, Huma Q. Rana, N. Jewel Samadder, Neal D. Shore, Robert L. Nussbaum

    Published 2022
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  8. 8
    FH Variant Pathogenicity Promotes Purine Salvage Pathway Dependence in Kidney Cancer

    FH Variant Pathogenicity Promotes Purine Salvage Pathway Dependence in Kidney Cancer by Blake R. Wilde, Nishma Chakraborty, Nedas Matulionis, Stephanie Hernandez, Daiki Ueno, Michayla E. Gee, Edward D. Esplin, Karen Ouyang, Keith Nykamp, Brian Shuch, Heather R. Christofk

    Published 2023
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  9. 9
    Experience using conventional compared to ancestry-based population descriptors in clinical genomics laboratories

    Experience using conventional compared to ancestry-based population descriptors in clinical genomics laboratories by Kathryn E. Hatchell, Sarah Poll, Emily M. Russell, Trevor Williams, Rachel E. Ellsworth, Flavia M. Facio, Sienna Aguilar, Edward D. Esplin, Alice B. Popejoy, Robert L. Nussbaum, Swaroop Aradhya

    Published 2025
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  10. 10
    RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans

    RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans by Hanan E. Shamseldin, Anas M. Alazami, Melanie Manning, Amal Hashem, Oana Caluseiu, Brahim Tabarki, Edward D. Esplin, Susan Schelley, A. Micheil Innes, Jillian S. Parboosingh, Ryan E. Lamont, Jacek Majewski, François Bernier, Fowzan S. Alkuraya

    Published 2015
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  11. 11
    Rate of Pathogenic Germline Variants in Patients With Lung Cancer

    Rate of Pathogenic Germline Variants in Patients With Lung Cancer by Steven Sorscher, Jaclyn LoPiccolo, Brandie Heald, Elaine Chen, Sara L. Bristow, Scott T. Michalski, Sarah M. Nielsen, Alix M.B. Lacoste, Emil Keyder, Hayan Lee, Robert L. Nussbaum, Renato Martins, Edward D. Esplin

    Published 2023
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  12. 12
    Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing

    Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing by Lisa Dellefave‐Castillo, Allison L. Cirino, Thomas E. Callis, Edward D. Esplin, John Garcia, Kathryn E. Hatchell, Britt Johnson, Ana Morales, Ellen S. Regalado, Susan Rojahn, Matteo Vatta, Robert L. Nussbaum, Elizabeth M. McNally

    Published 2022
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  13. 13
    Germline Genetic Testing After Cancer Diagnosis

    Germline Genetic Testing After Cancer Diagnosis by Allison W. Kurian, Paul Abrahamse, Allison Furgal, Kevin C. Ward, Ann S. Hamilton, Rachel Hodan, Rachel Tocco, Lihua Liu, Jonathan S. Berek, Lily Hoang, Amal Yussuf, Lisa R. Susswein, Edward D. Esplin, Thomas P. Slavin, Scarlett Lin Gomez, Timothy P. Hofer, Steven J. Katz

    Published 2023
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  14. 14
    Single-cell analyses define a continuum of cell state and composition changes in the malignant transformation of polyps to colorectal cancer

    Single-cell analyses define a continuum of cell state and composition changes in the malignant transformation of polyps to colorectal cancer by Winston R. Becker, Stephanie Nevins, Derek C. Chen, Roxanne Chiu, Aaron M. Horning, Tuhin K. Guha, Rozelle Laquindanum, Meredith Mills, Hassan Chaı̈b, Uri Ladabaum, Teri A. Longacre, Jeanne Shen, Edward D. Esplin, Anshul Kundaje, James M. Ford, Christina Curtis, M Snyder, William J. Greenleaf

    Published 2022
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  15. 15
    Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy

    Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy by Rebecca Truty, Nila Patil, Raman Sankar, Joseph Sullivan, J Gordon Millichap, Gemma L. Carvill, Ali Entezam, Edward D. Esplin, Amy E Fuller, Michelle Hogue, Britt Johnson, Amirah Khouzam, Yuya Kobayashi, Rachel Lewis, Keith Nykamp, Darlene Riethmaier, Jody Westbrook, Michelle K. Zeman, Robert L. Nussbaum, Swaroop Aradhya

    Published 2019
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  16. 16
    Addressing underrepresentation in genomics research through community engagement

    Addressing underrepresentation in genomics research through community engagement by Amy A. Lemke, Edward D. Esplin, Aaron J. Goldenberg, Claudia Gonzaga‐Jauregui, Neil A. Hanchard, Julie Harris-Wai, Justin E. Ideozu, Rosario Isasi, Andrew P. Landstrom, Anya E. R. Prince, Erin Turbitt, Maya Sabatello, Samantha A. Schrier Vergano, Matthew R.G. Taylor, Joon‐Ho Yu, Kyle B. Brothers, Nanibaa’ A. Garrison

    Published 2022
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  17. 17
    Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma

    Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma by Amin H. Nassar, Sarah Abou Alaiwi, Saud H. AlDubayan, Nicholas Moore, Kent W. Mouw, David J. Kwiatkowski, Toni K. Choueiri, Catherine Curran, Jacob E. Berchuck, Lauren C. Harshman, Pier Vitale Nuzzo, Nieves Martínez Chanzá, Eliezer M. Van Allen, Edward D. Esplin, Shan Yang, Thomas E. Callis, Judy E. Garber, Huma Q. Rana, Guru Sonpavde

    Published 2019
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  18. 18
    Global loss of promoter–enhancer connectivity and rebalancing of gene expression during early colorectal cancer carcinogenesis

    Global loss of promoter–enhancer connectivity and rebalancing of gene expression during early colorectal cancer carcinogenesis by Yizhou Zhu, Hayan Lee, Shannon White, Annika K. Weimer, Emma Monte, Aaron M. Horning, Stephanie Nevins, Edward D. Esplin, Kristina Paul, Gat Krieger, Zohar Shipony, Roxanne Chiu, Rozelle Laquindanum, Thomas V. Karathanos, Melissa W. Y. Chua, Meredith Mills, Uri Ladabaum, Teri A. Longacre, Jeanne Shen, Ariel Jaimovich, Doron Lipson, Anshul Kundaje, William J. Greenleaf, Christina Curtis, James M. Ford, M Snyder

    Published 2024
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  19. 19
    Underdiagnosis of Hereditary Breast Cancer: Are Genetic Testing Guidelines a Tool or an Obstacle?

    Underdiagnosis of Hereditary Breast Cancer: Are Genetic Testing Guidelines a Tool or an Obstacle? by Peter D. Beitsch, Pat W. Whitworth, Kevin S. Hughes, Rakesh Patel, Barry P. Rosen, Gia Compagnoni, Paul L. Baron, Rache M. Simmons, Linda Smith, Ian Grady, Michael Kinney, C Coomer, Karen Ruth Michio Barbosa, Dennis R. Holmes, Eric Brown, Linsey Gold, Patricia Clark, Lee B. Riley, Samuel Lyons, Antonio Ruiz, Sadia Kahn, Heather Macdonald, Lisa D. Curcio, Mary Kay Hardwick, Shan Yang, Edward D. Esplin, Robert L. Nussbaum

    Published 2018
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  20. 20
    Developing and Optimizing Innovative Tools to Address Familial Hypercholesterolemia Underdiagnosis

    Developing and Optimizing Innovative Tools to Address Familial Hypercholesterolemia Underdiagnosis by Gemme Campbell‐Salome, Laney K. Jones, Max Masnick, Nephi Walton, Catherine D. Ahmed, Adam H. Buchanan, Andrew Brangan, Edward D. Esplin, David Kann, Ilene Ladd, Melissa Kelly, Iris Kindt, H. Lester Kirchner, Mary P. McGowan, Megan McMinn, Ana Morales, Kelly D. Myers, Matthew T. Oetjens, Alanna Kulchak Rahm, Tara Schmidlen, Amanda Sheldon, Emilie Simmons, Moran Snir, Natasha T. Strande, Nicole L. Walters, Katherine Wilemon, Marc S. Williams, Samuel S. Gidding, Amy C. Sturm

    Published 2021
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