Publications by authors named "Annette Leon"

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Informatics Powering Data to Shape the Future of Molecular Pathology.
Andrea Sboner, Jamal Benhamida, Julie W Hirschhorn, Robyn L Temple-Smolkin, Weiwei Zhang, Annette Leon

J Mol Diagn· August 2025

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Development of a Body of Knowledge for the Clinical Bioinformatician: Perspectives from the Association for Molecular Pathology's Clinical Bioinformatician Body of Knowledge Steering Committee.
Somak Roy, Amber M Fussell, Danielle Jordan, Sabah Kadri, Annette Leon

J Mol Diagn· July 2025

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Clinical Bioinformatician Body of Knowledge-Molecular Diagnostics Core: A Report of the Association for Molecular Pathology.
Annette Leon, Eduardo Castro-Echeverry, Amber M Fussell, Danielle Jordan, Nefize S Kip

J Mol Diagn· July 2025

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Recommendations for the Use of in Silico Approaches for Next-Generation Sequencing Bioinformatic Pipeline Validation: A Joint Report of the Association for Molecular Pathology, Association for Pathology Informatics, and College of American Pathologists.
Eric J Duncavage, Joshua F Coleman, Monica E de Baca, Sabah Kadri, Annette Leon

J Mol Diagn· January 2023

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Harmonizing variant classification for return of results in the All of Us Research Program.
Steven M Harrison, Christina A Austin-Tse, Serra Kim, Matthew Lebo, Annette Leon

Hum Mutat· August 2022

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The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification.
Joana R Chora, Michael A Iacocca, Lukáš Tichý, Hannah Wand, C Lisa Kurtz, Annette Leon

Genet Med· February 2022

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Intronic Breakpoint Signatures Enhance Detection and Characterization of Clinically Relevant Germline Structural Variants.
Jeroen van den Akker, Lawrence Hon, Anjana Ondov, Ziga Mahkovec, Robert O'Connor, Annette Leon

J Mol Diagn· May 2021

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Multi-Gene Panel Testing of 23,179 Individuals for Hereditary Cancer Risk Identifies Pathogenic Variant Carriers Missed by Current Genetic Testing Guidelines.
Cynthia L Neben, Anjali D Zimmer, Will Stedden, Jeroen van den Akker, Robert O'Connor, Annette Leon

J Mol Diagn· July 2019

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Identification of a novel GREM1 duplication in a patient with multiple colon polyps.
Danielle B McKenna, Jeroen Van Den Akker, Alicia Y Zhou, Lauren Ryan, Annette Leon

Fam Cancer· January 2019

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Standards and Guidelines for Validating Next-Generation Sequencing Bioinformatics Pipelines: A Joint Recommendation of the Association for Molecular Pathology and the College of American Pathologists.
Somak Roy, Christopher Coldren, Arivarasan Karunamurthy, Nefize S Kip, Eric W Klee, Annette Leon

J Mol Diagn· January 2018

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A multicenter, cross-platform clinical validation study of cancer cytogenomic arrays.
Marilyn M Li, Federico A Monzon, Jaclyn A Biegel, Vaidehi Jobanputra, Jennifer J Laffin, Annette Leon

Cancer Genet· November 2015

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Translocation t(1;9) is a recurrent cytogenetic abnormality associated with progression of essential thrombocythemia patients displaying the JAK2 V617F mutation.
Annette Leon, John F Staropoli, Jesus M Hernandez, Janina A Longtine, Frank C Kuo

Leuk Res· September 2011

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A novel custom resequencing array for dilated cardiomyopathy.
Rebekah S Zimmerman, Stephanie Cox, Neal K Lakdawala, Allison Cirino, Debora Mancini-DiNardo, Annette Leon

Genet Med· May 2010

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Lipophilic bisphosphonates as dual farnesyl/geranylgeranyl diphosphate synthase inhibitors: an X-ray and NMR investigation.
Yonghui Zhang, Rong Cao, Fenglin Yin, Michael P Hudock, Rey-Ting Guo, Annette Leon

J Am Chem Soc· April 2009

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Synthesis and anticancer activity of new class of bisphosphonates/phosphanamidates.
Y B Kiran, C Devendranath Reddy, D Gunasekar, C Suresh Reddy, Annette Leon

Eur J Med Chem· April 2008

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Activity of sulfonium bisphosphonates on tumor cell lines.
Yonghui Zhang, Michael P Hudock, Kilannin Krysiak, Rong Cao, Kyle Bergan, Annette Leon

J Med Chem· November 2007

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The effect of the administration of human gamma globulins in a model of BCG infection in mice.
Nesty Olivares, Annette León, Yamilé López, Alina Puig, Armando Cádiz

Tuberculosis (Edinb)· April 2007

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Isoprenoid biosynthesis as a drug target: bisphosphonate inhibition of Escherichia coli K12 growth and synergistic effects of fosmidomycin.
Annette Leon, Lei Liu, Yan Yang, Michael P Hudock, Patrick Hall

J Med Chem· December 2006

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Activity of nitrogen-containing and non-nitrogen-containing bisphosphonates on tumor cell lines.
Yonghui Zhang, Annette Leon, Yongcheng Song, Danielle Studer, Christa Haase

J Med Chem· September 2006

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