| 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 | 434 | 2020 |
| 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 | 393 | 2019 |
| 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 | 365 | 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 | 212 | 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 | 166 | 2021 |
| 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 | 111 | 2020 |
| Organization and maintenance of molecular domains in myelinated axons ED Buttermore, CL Thaxton, MA Bhat Journal of neuroscience research 91 (5), 603-622, 2013 | 107 | 2013 |
| 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 | 91 | 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 | 89 | 2020 |
| 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 | 85 | 2022 |
| 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 | 67 | 2010 |
| 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 | 47 | 2018 |
| 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 | 45 | 2018 |
| 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 | 39 | 2017 |
| 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 | 39 | 2008 |
| 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 | 38 | 2022 |
| Myelination and regional domain differentiation of the axon C Thaxton, MA Bhat Cell Biology of the Axon, 65-85, 2009 | 38 | 2009 |
| 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 | 36 | 2007 |
| 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 | 35 | 2011 |
| 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 | 29 | 2022 |
