Courtney L Thaxton
Courtney L Thaxton
Research Assistant Professor, University of North Carolina at Chapel Hill
Vahvistettu sähköpostiosoite verkkotunnuksessa
Evaluating the clinical validity of hypertrophic cardiomyopathy genes
J Ingles, J Goldstein, C Thaxton, C Caleshu, EW Corty, SB Crowley, ...
Circulation: Genomic and Precision Medicine 12 (2), e002460, 2019
How many rare diseases are there?
M Haendel, N Vasilevsky, D Unni, C Bologa, N Harris, H Rehm, ...
Nature reviews drug discovery 19 (2), 77-78, 2020
Evidence-based assessment of genes in dilated cardiomyopathy
E Jordan, L Peterson, T Ai, B Asatryan, L Bronicki, E Brown, R Celeghin, ...
Circulation 144 (1), 7-19, 2021
Spatiotemporal ablation of myelinating glia‐specific neurofascin (NfascNF155) in mice reveals gradual loss of paranodal axoglial junctions and concomitant …
AM Pillai, C Thaxton, AL Pribisko, JG Cheng, JL Dupree, MA Bhat
Journal of neuroscience research 87 (8), 1773-1793, 2009
International evidence based reappraisal of genes associated with arrhythmogenic right ventricular cardiomyopathy using the clinical genome resource framework
CA James, JDH Jongbloed, RE Hershberger, A Morales, DP Judge, ...
Circulation: Genomic and Precision Medicine 14 (3), e003273, 2021
Organization and maintenance of molecular domains in myelinated axons
ED Buttermore, CL Thaxton, MA Bhat
Journal of neuroscience research 91 (5), 603-622, 2013
A myelin-related transcriptomic profile is shared by Pitt–Hopkins syndrome models and human autism spectrum disorder
BDN Phan, JF Bohlen, BA Davis, Z Ye, HY Chen, B Mayfield, SR Sripathy, ...
Nature neuroscience 23 (3), 375-385, 2020
Nodes of Ranvier act as barriers to restrict invasion of flanking paranodal domains in myelinated axons
C Thaxton, AM Pillai, AL Pribisko, JL Dupree, MA Bhat
Neuron 69 (2), 244-257, 2011
Interpretable clinical genomics with a likelihood ratio paradigm
PN Robinson, V Ravanmehr, JOB Jacobsen, D Danis, XA Zhang, ...
The American Journal of Human Genetics 107 (3), 403-417, 2020
In vivo deletion of immunoglobulin domains 5 and 6 in neurofascin (Nfasc) reveals domain-specific requirements in myelinated axons
C Thaxton, AM Pillai, AL Pribisko, M Labasque, JL Dupree, ...
Journal of Neuroscience 30 (14), 4868-4876, 2010
Mondo: Unifying diseases for the world, by the world
NA Vasilevsky, NA Matentzoglu, S Toro, JE Flack IV, H Hegde, DR Unni, ...
MedRxiv, 2022.04. 13.22273750, 2022
The ClinGen Epilepsy Gene Curation Expert Panel—bridging the divide between clinical domain knowledge and formal gene curation criteria
I Helbig, ER Riggs, CA Barry, KM Klein, D Dyment, C Thaxton, ...
Human mutation 39 (11), 1476-1484, 2018
Common pathophysiology in multiple mouse models of Pitt–Hopkins syndrome
C Thaxton, AD Kloth, EP Clark, SS Moy, RA Chitwood, BD Philpot
Journal of Neuroscience 38 (4), 918-936, 2018
Myelination and regional domain differentiation of the axon
C Thaxton, MA Bhat
Cell Biology of the Axon, 65-85, 2009
Neuregulin and laminin stimulate phosphorylation of the NF2 tumor suppressor in Schwann cells by distinct protein kinase A and p21-activated kinase-dependent pathways
C Thaxton, J Lopera, M Bott, C Fernandez-Valle
Oncogene 27 (19), 2705-2715, 2008
Phosphorylation of the NF2 tumor suppressor in Schwann cells is mediated by Cdc42-Pak and requires paxillin binding
C Thaxton, J Lopera, M Bott, ME Baldwin, P Kalidas, C Fernandez-Valle
Molecular and Cellular Neuroscience 34 (2), 231-242, 2007
Decreased axon caliber underlies loss of fiber tract integrity, disproportional reductions in white matter volume, and microcephaly in Angelman syndrome model mice
MC Judson, AC Burette, CL Thaxton, AL Pribisko, MD Shen, AM Rumple, ...
Journal of Neuroscience 37 (31), 7347-7361, 2017
Schwannomin/merlin promotes Schwann cell elongation and influences myelin segment length
C Thaxton, M Bott, B Walker, NA Sparrow, S Lambert, C Fernandez-Valle
Molecular and Cellular Neuroscience 47 (1), 1-9, 2011
Utilizing ClinGen gene‐disease validity and dosage sensitivity curations to inform variant classification
C Thaxton, ME Good, MT DiStefano, X Luo, EF Andersen, E Thorland, ...
Human mutation 43 (8), 1031-1040, 2022
The commercial genetic testing landscape for Parkinson's disease
L Cook, J Schulze, J Verbrugge, JC Beck, KS Marder, ...
Parkinsonism & related disorders 92, 107-111, 2021
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Artikkelit 1–20