Courtney Thaxton

5PUBLICATIONS
39CO-AUTHORS
Cardiology (incl. cardiovascular diseases)Epigenetics (incl. genome methylation and epigenomics)Molecular targetsNeurology and neuromuscular diseases
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Publications (5)

|Apr 21, 2025
Clinical Validity of Autosomal Dominant ALPK3 Loss-of-Function Variants as a Cause of Hypertrophic Cardiomyopathy.

Sophie Hespe, Emma S Singer, Chloe Reuter

|Aug 12, 2024
ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel: Reappraisal of Genes associated with Hypertrophic Cardiomyopathy.

Sophie Hespe, Amber Waddell, Babken Asatryan

|Feb 05, 2020
A myelin-related transcriptomic profile is shared by Pitt-Hopkins syndrome models and human autism spectrum disorder.

BaDoi N Phan, Joseph F Bohlen, Brittany A Davis

|Dec 10, 2017
Common Pathophysiology in Multiple Mouse Models of Pitt-Hopkins Syndrome.

Courtney Thaxton, Alexander D Kloth, Ellen P Clark

|Jul 01, 2017
Decreased Axon Caliber Underlies Loss of Fiber Tract Integrity, Disproportional Reductions in White Matter Volume, and Microcephaly in Angelman Syndrome Model Mice.

Matthew C Judson, Alain C Burette, Courtney L Thaxton

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