Courtney Thaxton - Dept Genet, Univ N Carolina

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Papers共 53 篇Author StatisticsCo-AuthorSimilar Experts

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The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships

Eleanor C Broeren, Vanessa N Gitau,Alicia B Byrne, Pamela Ajuyah,Marie B Balzotti,Jonathan S Berg,Krista Bluske, B Monica Bowen, Matthew P Brown, Amanda Buchanan, Brendan T Burns,Nicole J Burns,Anjana Chandrasekhar,Aditi Chawla,Jessica X Chong,Maya Chopra,Amanda R Clause,Marina T DiStefano,Stephanie DiTroia,Marwa A Elnagheeb, Amanda N Girod,Himanshu Goel,Katie L Golden-Grant,Thuong Ha,Ada Hamosh, Jennifer M Huang, Madeline Y Hughes,Saumya S Jamuar,Sylvia Kam,Akanchha Kesari,Ai Ling Koh, Rhonda N T Lassiter,Sarah E Leigh,Gabrielle Lemire,Jiin Ying Lim,Alka Malhotra,Hannah R McCurry,Becky Milewski,Shahida Moosa, Stephen A Murray,Emma H Owens,Elizabeth E Palmer, Brooke C Palus,Mayher J Patel,Revathi Rajkumar, Julie C Ratliff,F Lucy Raymond, Bruno Della Ripa Rodrigues Assis, Samin A Sajan,Zinayida Schlachetzki,Sarah A Schmidt,Zornitza Stark,Samuel P Strom,Julie P Taylor,Courtney Thaxton,Devon L Thrush,Sabrina Toro, Kezang C Tshering,Nicole A Vasilevsky,Bess Wayburn, Ryan F Webb,Anne O'Donnell-Luria,Alison J Coffey

Genetics in medicine open (2025): 103429-103429

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ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel: Reappraisal of Genes Associated with Hypertrophic Cardiomyopathy

Sophie Hespe,Amber Waddell,Babken Asatryan,Emma Owens,Courtney Thaxton, Mhy-Lanie Adduru,Kailyn Anderson, Emily E. Brown,Lily Hoffman-Andrews,Elizabeth Jordan,Katherine Josephs,Megan Mayers,Stacey Peters,Fergus Stafford,Richard D. Bagnall,Lucas Bronicki,Bert Callewaert,C. Anwar A. Chahal,Cynthia A. James,Olga Jarinova

Journal of the American College of Cardiologyno. 7 (2025): 727-740

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O43: Crowd-sourced Annotation: A Curation Tool Engaging Future Medical Genomics Professionals

Pepper St. Clair,Justyne Ross,Jennifer Goldstein, Shruthi Mohan, Lindsay Worley, Randy Cockerell, Amber Waddell, William Hankey, Jonathan Berg,Courtney Thaxton

Genetics in Medicine Open (2025): 102353

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Clinical Validity of Autosomal Dominant ALPK3 Loss-of-Function Variants As a Cause of Hypertrophic Cardiomyopathy

Sophie Hespe, Emma S Singer,Chloe Reuter,Brittney Murray, Elizabeth Jordan, Jessica Chowns,Stacey Peters, Megan Mayers,Belinda Gray, Ray E Hershberger,Anjali Owens,Christopher Semsarian, Amber Waddell, Babken Asatryan, Emma Owens,Courtney Thaxton, Mhy-Lanie Adduru, Kailyn Anderson, Emily E Brown,Lily Hoffman-Andrews,Fergus Stafford,Richard D Bagnall,Lucas Bronicki,Bert Callewaert,C Anwar A Chahal,Cynthia A James,Olga Jarinova, Andrew P Landstrom, Elizabeth M McNally,Laura Muiño-Mosquera, Victoria Parikh,Roddy Walsh, Bess Wayburn,James S Ware,Benjamin L Parker,Enzo R Porrello,David A Elliott, James W McNamara,Jodie Ingles

Circulation Genomic and precision medicinepp.e004976-e004976, (2025)

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P280: Enhancing Genomic Data Accessibility with Hypothes.is Parsing Tool for Variant Annotations

Roshni Arun,Justyne Ross, Jonathan Berg,Courtney Thaxton

Genetics in Medicine Open (2025): 102245

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Implementation of a Dyadic Nomenclature for Monogenic Diseases

Courtney Thaxton,Leslie G. Biesecker,Marina DiStefano,Melissa Haendel,Ada Hamosh,Emma Owens,Sharon E. Plon,Heidi L. Rehm,Jonathan S. Berg

AMERICAN JOURNAL OF HUMAN GENETICSno. 9 (2024): 1810-1818

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Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular Dystrophy

Shruthi Mohan,Shannon McNulty,Courtney Thaxton,Marwa Elnagheeb,Emma Owens,May Flowers, Teagan Nunnery, Autumn Self, Brooke Palus,Svetlana Gorokhova, April Kennedy,Zhiyv Niu,Mridul Johari,Alassane Baneye Maiga, Kelly Macalalad,Amanda R. Clause,Jacques S. Beckmann,Lucas Bronicki,Sandra T. Cooper,Vijay S. Ganesh,Peter B. Kang,Akanchha Kesari,Monkol Lek, Jennifer Levy,Laura Rufibach,Marco Savarese,Melissa J. Spencer,Volker Straub,Giorgio Tasca,Conrad C. Weihl

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGYno. 9 (2024): 2268-2276

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P150: ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel: Reappraisal of the Validity of Hypertrophic Cardiomyopathy Genes*

Amber Waddell,Sophie Hespe,Babken Asatryan,Emma Owens,Courtney Thaxton, Mhy-Lanie Adduru,Kailyn Anderson, Emily Brown,Lily Hoffman-Andrews,Elizabeth Jordan,Megan Mayers,Stacey Peters,Fergus Stafford,Richard Bagnall,Lucas Bronicki,Bert Callewaert, C. Anwar Chahal,Cynthia James,Olga Jarinova,Andrew Landstrom

Genetics in Medicine Open (2024): 101047

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Lumping Vs. Splitting - How to Approach Defining a Disease for Accurate Curation - Virtual

Courtney Thaxton

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 85-85

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P155: the ClinGen Framework for Naming Monogenic Diseases*

Courtney Thaxton,Leslie Biesecker,Marina DiStefano,Melissa Haendel,Emma Owens,Ada Hamosh,Sharon Plon,Heidi Rehm,Jonathan Berg

Genetics in Medicine Open (2024): 101052

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