Search Results - Heather Zimmermann

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  1. 1
    Diagnostic Outcomes of Concurrent DNA and RNA Sequencing in Individuals Undergoing Hereditary Cancer Testing

    Diagnostic Outcomes of Concurrent DNA and RNA Sequencing in Individuals Undergoing Hereditary Cancer Testing by Carolyn Horton, Lily Hoang, Heather Zimmermann, Colin C. Young, Jessica Grzybowski, Kate Durda, Huy Gia Vuong, David Burks, Ashley Cass, Holly LaDuca, Marcy E. Richardson, Steven M. Harrison, Elizabeth Chao, Rachid Karam

    Published 2023
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  2. 2
    Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer

    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 2019
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  3. 3
    The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for <i>LDLR</i> variant classification

    The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for <i>LDLR</i> variant classification by Joana Rita Chora, Michael A. Iacocca, Lukáš Tichý, Hannah Wand, C. Lisa Kurtz, Heather Zimmermann, Annette Leon, Maggie Williams, Steve E. Humphries, Amanda J. Hooper, Mark Trinder, Liam R. Brunham, Alexandre C. Pereira, Cinthia Elim Jannes, Margaret Chen, Jessica Chonis, Jian Wang, Serra Kim, Tami Johnston, Přemysl Souček, Michal Kramárek, S. E. A. Leigh, Alain Carrié, Eric J.G. Sijbrands, Robert A. Hegele, Tomáš Freiberger, Joshua W. Knowles, Mafalda Bourbon

    Published 2021
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  4. 4
    The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification

    The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification by Joana Rita Chora, Michael A. Iacocca, Lukáš Tichý, Hannah Wand, C. Lisa Kurtz, Heather Zimmermann, Annette Leon, Maggie Williams, Steve E. Humphries, Amanda J. Hooper, Mark Trinder, Liam R. Brunham, Alexandre C. Pereira, Cinthia Elim Jannes, Margaret Chen, Jessica Chonis, Jian Wang, Serra Kim, Tami Johnston, Přemysl Souček, Michal Kramárek, S. E. A. Leigh, Alain Carrié, Eric J.G. Sijbrands, Robert A. Hegele, Tomáš Freiberger, Joshua W. Knowles, Mafalda Bourbon

    Published 2021
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  5. 5
    Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup

    Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup by Logan C. Walker, Miguel de la Hoya, George A. R. Wiggins, Amanda Lindy, Lisa M. Vincent, Michael T. Parsons, Daffodil M. Canson, Dana M. Bis‐Brewer, Ashley Cass, Alexander Tchourbanov, Heather Zimmermann, Alicia B. Byrne, Tina Pesaran, Rachid Karam, Steven M. Harrison, Amanda B. Spurdle, Leslie G. Biesecker, Steven M. Harrison, Ahmad Abou Tayoun, Jonathan S. Berg, Steven E. Brenner, Garry R. Cutting, Sian Ellard, Marc S. Greenblatt, Peter B. Kang, Izabela Karbassi, Rachel Karchin, Jessica L. Mester, Anne O’Donnell‐Luria, Tina Pesaran, Sharon E. Plon, Heidi L. Rehm, Natasha T. Strande, Sean V. Tavtigian, Scott Topper

    Published 2023
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