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Feasibility and Assessment of a Cascade Traceback Screening Program (FACTS): Protocol for a Multisite Study to Implement and Assess an Ovarian Cancer Traceback Cascade Testing Program.
DiNucci A, Henrikson NB, Jonas MC, Basra S, Blasi P, Brown J, Esplin ED, Hassen D, Hao J, Hu Y, Klinger T, Ladd I, Leppig K, Lewis M, Meyer M, Ney S, Ramaprasan A, Romagnoli K, Salvati Z, Scrol A, Schwiter R, Sheridan L, Somasundaram B, Suwannarat P, Wagner JK, Rahm AK. DiNucci A, et al. Among authors: esplin ed. J Pers Med. 2021 Jun 11;11(6):543. doi: 10.3390/jpm11060543. J Pers Med. 2021. PMID: 34208188 Free PMC article.
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight D, Morales A, Hatchell KE, Bristow SL, Bonkowsky JL, Perry MS, Berg AT, Borlot F, Esplin ED, Moretz C, Angione K, Ríos-Pohl L, Nussbaum RL, Aradhya S; ELEVIATE Consortium; Haldeman-Englert CR, Levy RJ, Parachuri VG, Lay-Son G, de Montellano DJD, Ramirez-Garcia MA, Benítez Alonso EO, Ziobro J, Chirita-Emandi A, Felix TM, Kulasa-Luke D, Megarbane A, Karkare S, Chagnon SL, Humberson JB, Assaf MJ, Silva S, Zarroli K, Boyarchuk O, Nelson GR, Palmquist R, Hammond KC, Hwang ST, Boutlier SB, Nolan M, Batley KY, Chavda D, Reyes-Silva CA, Miroshnikov O, Zuccarelli B, Amlie-Wolf L, Wheless JW, Seinfeld S, Kanhangad M, Freeman JL, Monroy-Santoyo S, Rodriguez-Vazquez N, Ryan MM, Machie M, Guerra P, Hassan MJ, Candee MS, Bupp CP, Park KL, Muller E 2nd, Lupo P, Pedersen RC, Arain AM, Murphy A, Schatz K, Mu W, Kalika PM, Plaza L, Kellogg MA, Lora EG, Carson RP, Svystilnyk V, Venegas V, Luke RR, Jiang H, Stetsenko T, Dueñas-Roque MM, Trasmonte J, Burke RJ, Hurst ACE, Smith DM, Massingham LJ, Pisani L, Costin CE, Ostrander B, Filloux FM, Ananth AL, Mohamed IS, Nechai A, Dao JM, Fahey MC, Aliu E, Falchek S, Press CA, Treat L, Eschbach K, Starks A, Kammeyer R, Bear JJ, Jacobson M, Che… See abstract for full author list ➔ McKnight D, et al. Among authors: esplin ed. JAMA Neurol. 2022 Dec 1;79(12):1267-1276. doi: 10.1001/jamaneurol.2022.3651. JAMA Neurol. 2022. PMID: 36315135 Free PMC article.
Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Peña LDM, Burrage LC, Enns GM, Esplin ED, Harding C, Mendell JR, Niu ZN, Scharfe C, Yu T, Koeberl DD; ACMG Therapeutics Committee. Electronic address: documents@acmg.net. Peña LDM, et al. Among authors: esplin ed. Genet Med. 2023 Jun;25(6):100831. doi: 10.1016/j.gim.2023.100831. Epub 2023 Apr 9. Genet Med. 2023. PMID: 37031408 No abstract available.
Developing and Optimizing Innovative Tools to Address Familial Hypercholesterolemia Underdiagnosis: Identification Methods, Patient Activation, and Cascade Testing for Familial Hypercholesterolemia.
Campbell-Salome G, Jones LK, Masnick MF, Walton NA, Ahmed CD, Buchanan AH, Brangan A, Esplin ED, Kann DG, Ladd IG, Kelly MA, Kindt I, Kirchner HL, McGowan MP, McMinn MN, Morales A, Myers KD, Oetjens MT, Rahm AK, Schmidlen TJ, Sheldon A, Simmons E, Snir M, Strande NT, Walters NL, Wilemon K, Williams MS, Gidding SS, Sturm AC. Campbell-Salome G, et al. Among authors: esplin ed. Circ Genom Precis Med. 2021 Feb;14(1):e003120. doi: 10.1161/CIRCGEN.120.003120. Epub 2021 Jan 22. Circ Genom Precis Med. 2021. PMID: 33480803 Free PMC article.
Racial disparities in cascade testing for cancer predisposition genes.
Kassem NM, Althouse SK, Monahan PO, Hayes L, Nielsen SM, Heald B, Esplin ED, Hatchell KE, Ballinger TJ. Kassem NM, et al. Among authors: esplin ed. Prev Med. 2023 Jul;172:107539. doi: 10.1016/j.ypmed.2023.107539. Epub 2023 May 6. Prev Med. 2023. PMID: 37156429
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
Haverfield EV, Esplin ED, Aguilar SJ, Hatchell KE, Ormond KE, Hanson-Kahn A, Atwal PS, Macklin-Mantia S, Hines S, Sak CW, Tucker S, Bleyl SB, Hulick PJ, Gordon OK, Velsher L, Gu JYJ, Weissman SM, Kruisselbrink T, Abel C, Kettles M, Slavotinek A, Mendelsohn BA, Green RC, Aradhya S, Nussbaum RL. Haverfield EV, et al. Among authors: esplin ed. BMC Med. 2021 Aug 18;19(1):199. doi: 10.1186/s12916-021-01999-2. BMC Med. 2021. PMID: 34404389 Free PMC article.
Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.
Dellefave-Castillo LM, Cirino AL, Callis TE, Esplin ED, Garcia J, Hatchell KE, Johnson B, Morales A, Regalado E, Rojahn S, Vatta M, Nussbaum RL, McNally EM. Dellefave-Castillo LM, et al. Among authors: esplin ed. JAMA Cardiol. 2022 Sep 1;7(9):966-974. doi: 10.1001/jamacardio.2022.2455. JAMA Cardiol. 2022. PMID: 35947370 Free PMC article.
96 results