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ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG).
Miller DT, Lee K, Abul-Husn NS, Amendola LM, Brothers K, Chung WK, Gollob MH, Gordon AS, Harrison SM, Hershberger RE, Klein TE, Richards CS, Stewart DR, Martin CL; ACMG Secondary Findings Working Group. Electronic address: documents@acmg.net. Miller DT, et al. Among authors: hershberger re. Genet Med. 2023 Aug;25(8):100866. doi: 10.1016/j.gim.2023.100866. Epub 2023 Jun 22. Genet Med. 2023. PMID: 37347242
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: hershberger re. Genome Med. 2023 Oct 23;15(1):86. doi: 10.1186/s13073-023-01246-8. Genome Med. 2023. PMID: 37872640 Free PMC article.
Transcriptomics and Beyond in Dilated Cardiomyopathy.
Cowan JR, Hershberger RE. Cowan JR, et al. Among authors: hershberger re. JACC Basic Transl Sci. 2023 Apr 24;8(4):419-421. doi: 10.1016/j.jacbts.2023.01.016. eCollection 2023 Apr. JACC Basic Transl Sci. 2023. PMID: 37138804 Free PMC article.
Plain Language Summary of Publication of the safety and efficacy of ARRY-371797 in people with dilated cardiomyopathy and a faulty LMNA gene.
MacRae CA, Taylor MR, Mestroni L, Moses J, Ashley EA, Wheeler MT, Lakdawala NK, Hershberger RE, Sandor V, Saunders ME, Oliver C, Lee PA, Judge DP. MacRae CA, et al. Among authors: hershberger re. Future Cardiol. 2023 Feb;19(2):55-63. doi: 10.2217/fca-2022-0099. Epub 2023 Jan 31. Future Cardiol. 2023. PMID: 36718638 Free article. Review.
A human mitofusin 2 mutation can cause mitophagic cardiomyopathy.
Franco A, Li J, Kelly DP, Hershberger RE, Marian AJ, Lewis RM, Song M, Dang X, Schmidt AD, Mathyer ME, Edwards JR, Strong CG, Dorn GW. Franco A, et al. Among authors: hershberger re. Elife. 2023 Nov 1;12:e84235. doi: 10.7554/eLife.84235. Elife. 2023. PMID: 37910431 Free PMC article.
Rare Variant Genetics and Dilated Cardiomyopathy Severity: The DCM Precision Medicine Study.
Hofmeyer M, Haas GJ, Jordan E, Cao J, Kransdorf E, Ewald GA, Morris AA, Owens A, Lowes B, Stoller D, Wilson Tang WH, Garg S, Trachtenberg BH, Shah P, Pamboukian SV, Sweitzer NK, Wheeler MT, Wilcox JE, Katz S, Pan S, Jimenez J, Smart F, Wang J, Gottlieb SS, Judge DP, Moore CK, Huggins GS, Kinnamon DD, Ni H, Hershberger RE; DCM Precision Medicine Study of the DCM Consortium. Hofmeyer M, et al. Among authors: hershberger re. Circulation. 2023 Sep 12;148(11):872-881. doi: 10.1161/CIRCULATIONAHA.123.064847. Epub 2023 Aug 29. Circulation. 2023. PMID: 37641966 Free article.
176 results