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Courtney L Thaxton
Courtney L Thaxton
Research Assistant Professor, University of North Carolina at Chapel Hill
E-mailová adresa ověřena na: med.unc.edu
Název
Citace
Citace
Rok
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
4362020
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
3942019
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
3722021
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
2152009
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
1682021
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
1152020
Organization and maintenance of molecular domains in myelinated axons
ED Buttermore, CL Thaxton, MA Bhat
Journal of neuroscience research 91 (5), 603-622, 2013
1072013
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
932011
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
862020
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
832022
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
672010
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
482018
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
452018
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
422022
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
402017
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
382008
Myelination and regional domain differentiation of the axon
C Thaxton, MA Bhat
Cell Biology of the Axon, 65-85, 2009
372009
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
362011
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
352007
Lumping versus splitting: How to approach defining a disease to enable accurate genomic curation
C Thaxton, J Goldstein, M DiStefano, K Wallace, PD Witmer, MA Haendel, ...
Cell genomics 2 (5), 2022
302022
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Články 1–20