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ATHN 10

ATHN 10: Novel Variants in Fibrinogen Genes using a Customized 31-Gene Next-Generation Sequencing Panel

Author(s):

Authors: Diane J. Nugent, Shirley Williams, Christina Ashburner, Nicole Crook, Martin Chandler, Tammuella Chrisentery-Singleton, Suchitra Acharya, Amy Shapiro
Publication:
ISTH Poster
Date:
June 21, 2025
Topics:
Rare Disease, Genetics
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ATHN 10: Modifying Variants That Alone are Sufficient to Reduce Factor VII Levels

Author(s):

Diane J. Nugent, Shirley Williams, Christina Ashburner, Nicole Crook, Martin Chandler, Tammuella Chrisentery-Singleton, Suchitra Acharya, Amy Shapiro
Publication:
ISTH Poster
Date:
June 21, 2025
Topics:
Rare Disease, Genetics
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ATHN 10 – Novel Variants in Persons with Rare Coagulation Disorders across Hemophilia Treatment Centers in the United States

Author(s):

Diane J. Nugent, Shirley Williams, Suchitra Acharya, Christina Ashburner, Vinod V. Balasa, Nidhi Bhatt, Martin Chandler, Tammuella Chrisentery-Singleton, Nicole Crook, Hilda Ding, Carol Fedor, Ravitharan Krishnadasan, Jonathan C. Roberts, Beverly Schaefer, Ayesha Zia, Amy D. Shapiro
Publication:
Blood
Date:
November 5, 2024
Topics:
Rare Disease, Genetics
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First US Rare Bleeding Disorder Genotype-Phenotype Registry (ATHN 10) Discovers Many Individuals with Both Novel and Multiple Variants Using a Customized 30-Gene Next-Generation Sequencing Panel

Author(s):

Diane Nugent, Shirley Williams, Nicole Crook, Christina Ashburner, Martin Chandler, Michael Recht, Haduwa Momoh, Amy Shapiro
Publication:
ISTH Oral Presentation
Date:
June 28, 2023
Topics:
Rare blood disorders, genetics
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