Personal information

clinical genetics, biocuration, variant interpretation, variant analysis, annotation
United States

Activities

Employment (2)

University of North Carolina, Chapel Hill: Chapel Hill, NC, US

2020-04-01 to present | Assistant Professor (Genetics)
Employment
Source: Self-asserted source
Courtney Thaxton

University of North Carolina: NC, NC, US

2016-12-02 to 2020-03-31 | Assistant Director UNC Biocuration Core (Genetics)
Employment
Source: Self-asserted source
Courtney Thaxton

Education and qualifications (1)

University of Central Florida: Orlando, FL, US

2003-09-27 to 2007-11-04 | PhD (Biomedical Sciences)
Education
Source: Self-asserted source
Courtney Thaxton

Professional activities (2)

American Society of Human Genetics: Bethesda, Maryland, US

Membership
Source: Self-asserted source
Courtney Thaxton

American College of Medical Genetics: Bethesda, Maryland, US

Membership
Source: Self-asserted source
Courtney Thaxton

Funding (1)

Organization and Maintenance of Axonal Domains

2011-02-01 to 2012-07-31 | Grant
National Institute of Neurological Disorders and Stroke (Bethesda, US)
GRANT_NUMBER: F32NS067943
Source: Self-asserted source
Courtney Thaxton via DimensionsWizard

Works (27)

Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.

medRxiv
2023-04 | Preprint
Contributors: Courtney Thaxton
Source: Self-asserted source
Courtney Thaxton

Developing a disease-specific annotation protocol for VHL gene curation using Hypothes.is.

Database : the journal of biological databases and curation
2023-01-01 | Journal article
Contributors: Salehipour D; Kirsten M Farncombe; Andric V; Ansar S; Delong S; Li E; Macpherson S; Ridd S; Ritter DI; Thaxton C et al.
Source: Self-asserted source
Courtney Thaxton

Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels.

Genetics in medicine : official journal of the American College of Medical Genetics
2022-05-26 | Journal article
Contributors: Courtney Thaxton; Erin Riggs; Bingaman TI; Barry CA; Behlmann A; Bluske K; Bostwick B; Bright A; Chen CA; Clause AR et al.
Source: Self-asserted source
Courtney Thaxton

Lumping versus splitting: How to approach defining a disease to enable accurate genomic curation.

Cell genomics
2022-05-01 | Journal article
Contributors: Courtney Thaxton; Thaxton C; Goldstein J; Marina DiStefano; Wallace K; Witmer PD; Haendel MA; Hamosh A; Rehm HL; Berg JS
Source: Self-asserted source
Courtney Thaxton

Mondo: Unifying diseases for the world, by the world

2022-04-16 | Preprint
Contributors: Nicole Vasilevsky; Nicolas Matentzoglu; Sabrina Toro; Joe Flack; Harshad Hegde; Deepak R Unni; Gioconda F Alyea; Joanna; Lawrence Babb; James P. Balhoff et al.
Source: Self-asserted source
Courtney Thaxton

Utilizing ClinGen gene-disease validity and dosage sensitivity curations to inform variant classification.

Human mutation
2021-10-25 | Journal article
Source: Self-asserted source
Courtney Thaxton

The commercial genetic testing landscape for Parkinson's disease.

Parkinsonism & related disorders
2021-10-19 | Journal article
Source: Self-asserted source
Courtney Thaxton

New view of the Mondo Disease Ontology High-level Classification According to Harrison's Principles of Internal Medicine textbook.

Source: Self-asserted source
Courtney Thaxton

Evidence-Based Assessment of Genes in Dilated Cardiomyopathy.

Circulation
2021-05-05 | Journal article
Source: Self-asserted source
Courtney Thaxton

International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework.

Circulation. Genomic and precision medicine
2021-04-08 | Journal article
Source: Self-asserted source
Courtney Thaxton

MACE2K: A Text-Mining Tool to Extract Literature-based Evidence for Variant Interpretation using Machine Learning

[]
2020-12-04 | Preprint
Contributors: Courtney Thaxton; Samir Gupta; Shruti Rao; Trisha Miglani; Yasaswini Iyer; Junxia Lin; Ahson M. Saiyed; Ifeoma Ikwuemesi; Shannon McNulty; Courtney Thaxton et al.
Source: Self-asserted source
Courtney Thaxton

Interpretable Clinical Genomics with a Likelihood Ratio Paradigm.

American journal of human genetics
2020-08-04 | Journal article
Source: Self-asserted source
Courtney Thaxton

A myelin-related transcriptomic profile is shared by Pitt-Hopkins syndrome models and human autism spectrum disorder.

Nature neuroscience
2020-02-03 | Journal article
Source: Self-asserted source
Courtney Thaxton

How many rare diseases are there?

Nature reviews. Drug discovery
2020-02-01 | Journal article
Source: Self-asserted source
Courtney Thaxton

Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.

Circulation. Genomic and precision medicine
2019-02-01 | Journal article
Source: Self-asserted source
Courtney Thaxton

The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria.

Human mutation
2018-11-01 | Journal article
Source: Self-asserted source
Courtney Thaxton

The progression of the ClinGen gene clinical validity classification over time.

Human mutation
2018-11-01 | Journal article
Source: Self-asserted source
Courtney Thaxton

Common Pathophysiology in Multiple Mouse Models of Pitt-Hopkins Syndrome.

The Journal of neuroscience : the official journal of the Society for Neuroscience
2017-12-08 | Journal article
Source: Self-asserted source
Courtney Thaxton

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

The Journal of neuroscience : the official journal of the Society for Neuroscience
2017-06-29 | Journal article
Source: Self-asserted source
Courtney Thaxton

Organization and maintenance of molecular domains in myelinated axons.

Journal of neuroscience research
2013-02-13 | Journal article
Source: Self-asserted source
Courtney Thaxton

Nodes of Ranvier act as barriers to restrict invasion of flanking paranodal domains in myelinated axons.

Neuron
2011-01-01 | Journal article
Source: Self-asserted source
Courtney Thaxton

Schwannomin/merlin promotes Schwann cell elongation and influences myelin segment length.

Molecular and cellular neurosciences
2010-12-21 | Journal article
Source: Self-asserted source
Courtney Thaxton

In vivo deletion of immunoglobulin domains 5 and 6 in neurofascin (Nfasc) reveals domain-specific requirements in myelinated axons.

The Journal of neuroscience : the official journal of the Society for Neuroscience
2010-04-01 | Journal article
Source: Self-asserted source
Courtney Thaxton

Spatiotemporal ablation of myelinating glia-specific neurofascin (Nfasc NF155) in mice reveals gradual loss of paranodal axoglial junctions and concomitant disorganization of axonal domains.

Journal of neuroscience research
2009-06-01 | Journal article
Source: Self-asserted source
Courtney Thaxton

Myelination and regional domain differentiation of the axon.

Results and problems in cell differentiation
2009-01-01 | Journal article
Source: Self-asserted source
Courtney Thaxton

Neuregulin and laminin stimulate phosphorylation of the NF2 tumor suppressor in Schwann cells by distinct protein kinase A and p21-activated kinase-dependent pathways.

Oncogene
2007-11-12 | Journal article
Source: Self-asserted source
Courtney Thaxton

Phosphorylation of the NF2 tumor suppressor in Schwann cells is mediated by Cdc42-Pak and requires paxillin binding.

Molecular and cellular neurosciences
2006-12-18 | Journal article
Source: Self-asserted source
Courtney Thaxton

Peer review (1 review for 1 publication/grant)

Review activity for Genetics in medicine. (1)