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Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.
Josephs KS, Roberts AM, Theotokis P, Walsh R, Ostrowski PJ, Edwards M, Fleming A, Thaxton C, Roberts JD, Care M, Zareba W, Adler A, Sturm AC, Tadros R, Novelli V, Owens E, Bronicki L, Jarinova O, Callewaert B, Peters S, Lumbers T, Jordan E, Asatryan B, Krishnan N, Hershberger RE, Chahal CAA, Landstrom AP, James C, McNally EM, Judge DP, van Tintelen P, Wilde A, Gollob M, Ingles J, Ware JS. Josephs KS, et al. Among authors: thaxton c. medRxiv [Preprint]. 2023 Apr 3:2023.04.03.23287612. doi: 10.1101/2023.04.03.23287612. medRxiv. 2023. PMID: 37066275 Free PMC article. Updated. Preprint.
Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.
Josephs KS, Roberts AM, Theotokis P, Walsh R, Ostrowski PJ, Edwards M, Fleming A, Thaxton C, Roberts JD, Care M, Zareba W, Adler A, Sturm AC, Tadros R, Novelli V, Owens E, Bronicki L, Jarinova O, Callewaert B, Peters S, Lumbers T, Jordan E, Asatryan B, Krishnan N, Hershberger RE, Chahal CAA, Landstrom AP, James C, McNally EM, Judge DP, van Tintelen P, Wilde A, Gollob M, Ingles J, Ware JS. Josephs KS, et al. Among authors: thaxton c. Genome Med. 2023 Oct 23;15(1):86. doi: 10.1186/s13073-023-01246-8. Genome Med. 2023. PMID: 37872640 Free PMC article.
Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular Dystrophy.
Mohan S, McNulty S, Thaxton C, Elnagheeb M, Owens E, Flowers M, Nunnery T, Self A, Palus B, Gorokhova S, Kennedy A, Niu Z, Johari M, Maiga AB, Macalalad K, Clause AR, Beckmann JS, Bronicki L, Cooper ST, Ganesh VS, Kang PB, Kesari A, Lek M, Levy J, Rufibach L, Savarese M, Spencer MJ, Straub V, Tasca G, Weihl CC. Mohan S, et al. Among authors: thaxton c. bioRxiv [Preprint]. 2024 May 6:2024.05.03.592369. doi: 10.1101/2024.05.03.592369. bioRxiv. 2024. PMID: 38765987 Free PMC article. Preprint.
Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel.
Goldstein JL, McGlaughon J, Kanavy D, Goomber S, Pan Y, Deml B, Donti T, Kearns L, Seifert BA, Schachter M, Son RG, Thaxton C, Udani R, Bali D, Baudet H, Caggana M, Hung C, Kyriakopoulou L, Rosenblum L, Steiner R, Pinto E Vairo F, Wang Y, Watson M, Fernandez R, Weaver M, Clarke L, Rehder C. Goldstein JL, et al. Among authors: thaxton c. Mol Genet Metab. 2023 Sep-Oct;140(1-2):107715. doi: 10.1016/j.ymgme.2023.107715. Epub 2023 Oct 26. Mol Genet Metab. 2023. PMID: 37907381
Generating Clinical-Grade Gene-Disease Validity Classifications Through the ClinGen Data Platforms.
Wright MW, Thaxton CL, Nelson T, DiStefano MT, Savatt JM, Brush MH, Cheung G, Mandell ME, Wulf B, Ward TJ, Goehringer S, O'Neill T, Weller P, Preston CG, Keseler IM, Goldstein JL, Strande NT, McGlaughon J, Azzariti DR, Cordova I, Dziadzio H, Babb L, Riehle K, Milosavljevic A, Martin CL, Rehm HL, Plon SE, Berg JS, Riggs ER, Klein TE. Wright MW, et al. Among authors: thaxton cl. Annu Rev Biomed Data Sci. 2024 Apr 25. doi: 10.1146/annurev-biodatasci-102423-112456. Online ahead of print. Annu Rev Biomed Data Sci. 2024. PMID: 38663031 Review.
Disturbed flow in the juxta-anastomotic area of an arteriovenous fistula correlates with endothelial loss, acute thrombus formation, and neointimal hyperplasia.
Bai H, Varsanik MA, Thaxton C, Ohashi Y, Gonzalez L, Zhang W, Aoyagi Y, Kano M, Yatsula B, Li Z, Pocivavsek L, Dardik A. Bai H, et al. Among authors: thaxton c. Am J Physiol Heart Circ Physiol. 2024 Jun 1;326(6):H1446-H1461. doi: 10.1152/ajpheart.00054.2024. Epub 2024 Apr 5. Am J Physiol Heart Circ Physiol. 2024. PMID: 38578237
A central arteriovenous fistula reduces systemic hypertension in a mouse model.
Brahmandam A, Alves R, Liu H, Gonzalez L, Aoyagi Y, Ohashi Y, Langford JT, Thaxton C, Taniguchi R, Zhang W, Bai H, Yatsula B, Dardik A. Brahmandam A, et al. Among authors: thaxton c. JVS Vasc Sci. 2024 Feb 15;5:100191. doi: 10.1016/j.jvssci.2024.100191. eCollection 2024. JVS Vasc Sci. 2024. PMID: 38510938 Free PMC article.
Nanoparticle Targeting in Chemo-Resistant Ovarian Cancer Reveals Dual Axis of Therapeutic Vulnerability Involving Cholesterol Uptake and Cell Redox Balance.
Wang Y, Calvert AE, Cardenas H, Rink JS, Nahotko D, Qiang W, Ndukwe CE, Chen F, Keathley R, Zhang Y, Cheng JX, Thaxton CS, Matei D. Wang Y, et al. Among authors: thaxton cs. Adv Sci (Weinh). 2024 Apr;11(13):e2305212. doi: 10.1002/advs.202305212. Epub 2024 Jan 23. Adv Sci (Weinh). 2024. PMID: 38263873 Free PMC article.
125 results