Search Results - Annette Leon

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  1. 1
    Multi-Gene Panel Testing of 23,179 Individuals for Hereditary Cancer Risk Identifies Pathogenic Variant Carriers Missed by Current Genetic Testing Guidelines

    Multi-Gene Panel Testing of 23,179 Individuals for Hereditary Cancer Risk Identifies Pathogenic Variant Carriers Missed by Current Genetic Testing Guidelines by Cynthia L. Neben, Anjali D. Zimmer, Will Stedden, Jeroen van den Akker, Robert O’Connor, Raymond C. Chan, Elaine Chen, Zheng Tan, Annette Leon, J Ji, Scott Topper, Alicia Y. Zhou

    Published 2019
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  2. 2
    Standards and Guidelines for Validating Next-Generation Sequencing Bioinformatics Pipelines

    Standards and Guidelines for Validating Next-Generation Sequencing Bioinformatics Pipelines by Somak Roy, Christopher D. Coldren, Arivarasan Karunamurthy, N. Sertac Kip, Eric W. Klee, Stephen E. Lincoln, Annette Leon, Mrudula Pullambhatla, Robyn Temple‐Smolkin, Karl V. Voelkerding, Chen Wang, Alexis B. Carter

    Published 2017
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  3. 3
    Amiodarone Has Intrinsic Anti-<i>Trypanosoma </i><i>c</i><i>ruzi</i> Activity and Acts Synergistically with Posaconazole

    Amiodarone Has Intrinsic Anti-<i>Trypanosoma </i><i>c</i><i>ruzi</i> Activity and Acts Synergistically with Posaconazole by Gustavo Benaím, John M. Sanders, Yael García-Marchán, Claudia Colina, Renée Lira, Aura Caldera, Gilberto Payares, Cristina Sanoja, Juan M. Burgos, Annette Leon-Rossell, Juan Luís Concepción, Alejandro G. Schijman, Mariano J. Levin, Eric Oldfield, Julio A. Urbina

    Published 2006
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  4. 4
    A novel custom resequencing array for dilated cardiomyopathy

    A novel custom resequencing array for dilated cardiomyopathy by Rebekah Zimmerman, Stephanie Cox, Neal K. Lakdawala, Allison L. Cirino, Debora Mancini‐DiNardo, Eugene Clark, Annette Leon, Elizabeth Hynes, Emily White, Samantha Baxter, Manal Alaamery, Lisa Farwell, Scott L. Weiss, Christine E. Seidman, Jonathan G. Seidman, Carolyn Y. Ho, Heidi L. Rehm, Birgit H. Funke

    Published 2010
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  5. 5
    Lipophilic Bisphosphonates as Dual Farnesyl/Geranylgeranyl Diphosphate Synthase Inhibitors: An X-ray and NMR Investigation

    Lipophilic Bisphosphonates as Dual Farnesyl/Geranylgeranyl Diphosphate Synthase Inhibitors: An X-ray and NMR Investigation by Yonghui Zhang, Rong Cao, Fenglin Yin, M.P. Hudock, Rey‐Ting Guo, Kilannin Krysiak, Sujoy Mukherjee, Yi-Gui Gao, Howard Robinson, Yongcheng Song, Joo Hwan No, Kyle Bergan, Annette Leon, Lauren M. Cass, A. Goddard, Ting‐Kai Chang, Fu-Yang Lin, Ermond van Beek, Socrates E. Papapoulos, Andrew H.‐J. Wang, Tadahiko Kubo, Mitsuo Ochi, D. Mukkamala, Eric Oldfield

    Published 2009
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  6. 6
    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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  7. 7
    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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