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Evidence-Based Assessment of Genes in Dilated Cardiomyopathy.
Jordan E, Peterson L, Ai T, Asatryan B, Bronicki L, Brown E, Celeghin R, Edwards M, Fan J, Ingles J, James CA, Jarinova O, Johnson R, Judge DP, Lahrouchi N, Lekanne Deprez RH, Lumbers RT, Mazzarotto F, Medeiros Domingo A, Miller RL, Morales A, Murray B, Peters S, Pilichou K, Protonotarios A, Semsarian C, Shah P, Syrris P, Thaxton C, van Tintelen JP, Walsh R, Wang J, Ware J, Hershberger RE. Jordan E, et al. Among authors: thaxton c. Circulation. 2021 Jul 6;144(1):7-19. doi: 10.1161/CIRCULATIONAHA.120.053033. Epub 2021 May 5. Circulation. 2021. PMID: 33947203 Free PMC article.
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J, Goldstein J, Thaxton C, Caleshu C, Corty EW, Crowley SB, Dougherty K, Harrison SM, McGlaughon J, Milko LV, Morales A, Seifert BA, Strande N, Thomson K, Peter van Tintelen J, Wallace K, Walsh R, Wells Q, Whiffin N, Witkowski L, Semsarian C, Ware JS, Hershberger RE, Funke B. Ingles J, et al. Among authors: thaxton c. Circ Genom Precis Med. 2019 Feb;12(2):e002460. doi: 10.1161/CIRCGEN.119.002460. Circ Genom Precis Med. 2019. PMID: 30681346 Free PMC article.
International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework.
James CA, Jongbloed JDH, Hershberger RE, Morales A, Judge DP, Syrris P, Pilichou K, Domingo AM, Murray B, Cadrin-Tourigny J, Lekanne Deprez R, Celeghin R, Protonotarios A, Asatryan B, Brown E, Jordan E, McGlaughon J, Thaxton C, Kurtz CL, van Tintelen JP. James CA, et al. Among authors: thaxton c. Circ Genom Precis Med. 2021 Jun;14(3):e003273. doi: 10.1161/CIRCGEN.120.003273. Epub 2021 Apr 8. Circ Genom Precis Med. 2021. PMID: 33831308 Free PMC article. Clinical Trial.
Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels.
Riggs ER, Bingaman TI, Barry CA, Behlmann A, Bluske K, Bostwick B, Bright A, Chen CA, Clause AR, Dharmadhikari AV, Ganapathi M, Gonzaga-Jauregui C, Grant AR, Hughes MY, Kim SR, Krause A, Liao J, Lumaka A, Mah M, Maloney CM, Mohan S, Osei-Owusu IA, Reble E, Rennie O, Savatt JM, Shimelis H, Siegert RK, Sneddon TP, Thaxton C, Toner KA, Tran KT, Webb R, Wilcox EH, Yin J, Zhuo X, Znidarsic M, Martin CL, Betancur C, Vorstman JAS, Miller DT, Schaaf CP. Riggs ER, et al. Among authors: thaxton c. Genet Med. 2022 Sep;24(9):1899-1908. doi: 10.1016/j.gim.2022.05.001. Epub 2022 May 26. Genet Med. 2022. PMID: 35616647 Free PMC article.
The commercial genetic testing landscape for Parkinson's disease.
Cook L, Schulze J, Verbrugge J, Beck JC, Marder KS, Saunders-Pullman R, Klein C, Naito A, Alcalay RN; ClinGen Parkinson's Disease Gene Curation Expert Panel and the MDS Task Force for Recommendations for Genetic Testing in Parkinson's Disease; Clinical Genome Resource (ClinGen) Parkinson's Disease Gene Curation Expert Panel Authors; Movement Society Disorder (MDS) Task Force on Recommendations for Clinical Genetic Testing in Parkinson's Disease Authors. Cook L, et al. Parkinsonism Relat Disord. 2021 Nov;92:107-111. doi: 10.1016/j.parkreldis.2021.10.001. Epub 2021 Oct 19. Parkinsonism Relat Disord. 2021. PMID: 34696975 Free PMC article.
The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria.
Helbig I, Riggs ER, Barry CA, Klein KM, Dyment D, Thaxton C, Sadikovic B, Sands TT, Wagnon JL, Liaquat K, Cilio MR, Mirzaa G, Park K, Axeen E, Butler E, Bardakjian TM, Striano P, Poduri A, Siegert RK, Grant AR, Helbig KL, Mefford HC. Helbig I, et al. Among authors: thaxton c. Hum Mutat. 2018 Nov;39(11):1476-1484. doi: 10.1002/humu.23632. Hum Mutat. 2018. PMID: 30311377 Free PMC article.
A myelin-related transcriptomic profile is shared by Pitt-Hopkins syndrome models and human autism spectrum disorder.
Phan BN, Bohlen JF, Davis BA, Ye Z, Chen HY, Mayfield B, Sripathy SR, Cerceo Page S, Campbell MN, Smith HL, Gallop D, Kim H, Thaxton CL, Simon JM, Burke EE, Shin JH, Kennedy AJ, Sweatt JD, Philpot BD, Jaffe AE, Maher BJ. Phan BN, et al. Nat Neurosci. 2020 Mar;23(3):375-385. doi: 10.1038/s41593-019-0578-x. Epub 2020 Feb 3. Nat Neurosci. 2020. PMID: 32015540 Free PMC article.
124 results