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Page 1
The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.
McGurk KA, Zhang X, Theotokis P, Thomson K, Harper A, Buchan RJ, Mazaika E, Ormondroyd E, Wright WT, Macaya D, Pua CJ, Funke B, MacArthur DG, Prasad SK, Cook SA, Allouba M, Aguib Y, Yacoub MH, O'Regan DP, Barton PJR, Watkins H, Bottolo L, Ware JS. McGurk KA, et al. Among authors: funke b. Am J Hum Genet. 2023 Sep 7;110(9):1482-1495. doi: 10.1016/j.ajhg.2023.08.003. Epub 2023 Aug 30. Am J Hum Genet. 2023. PMID: 37652022 Free PMC article.
Laboratory perspectives in the development of polygenic risk scores for disease: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Reddi HV, Wand H, Funke B, Zimmermann MT, Lebo MS, Qian E, Shirts BH, Zou YS, Zhang BM, Rose NC, Abu-El-Haija A; ACMG Laboratory Quality Assurance Committee. Electronic address: documents@acmg.net. Reddi HV, et al. Among authors: funke b. Genet Med. 2023 May;25(5):100804. doi: 10.1016/j.gim.2023.100804. Epub 2023 Mar 27. Genet Med. 2023. PMID: 36971772 Free article. No abstract available.
Genetic sex validation for sample tracking in next-generation sequencing clinical testing.
Hu J, Korchina V, Zouk H, Harden MV, Murdock D, Macbeth A, Harrison SM, Lennon N, Kovar C, Balasubramanian A, Zhang L, Chandanavelli G, Pasham D, Rowley R, Wiley K, Smith ME, Gordon A, Jarvik GP, Sleiman P, Kelly MA, Bland HT, Murugan M, Venner E, Boerwinkle E; eMERGE III consortium; Prows C, Mahanta L, Rehm HL, Gibbs RA, Muzny DM. Hu J, et al. BMC Res Notes. 2024 Mar 3;17(1):62. doi: 10.1186/s13104-024-06723-w. BMC Res Notes. 2024. PMID: 38433186 Free PMC article.
Cardiovascular pathology in Hutchinson-Gilford progeria: correlation with the vascular pathology of aging.
Olive M, Harten I, Mitchell R, Beers JK, Djabali K, Cao K, Erdos MR, Blair C, Funke B, Smoot L, Gerhard-Herman M, Machan JT, Kutys R, Virmani R, Collins FS, Wight TN, Nabel EG, Gordon LB. Olive M, et al. Among authors: funke b. Arterioscler Thromb Vasc Biol. 2010 Nov;30(11):2301-9. doi: 10.1161/ATVBAHA.110.209460. Epub 2010 Aug 26. Arterioscler Thromb Vasc Biol. 2010. PMID: 20798379 Free PMC article.
Slice Testing-Considerations from Ordering to Reporting: A Joint Report of the Association for Molecular Pathology, College of American Pathologists, and National Society of Genetic Counselors.
SoRelle JA, Funke BH, Eno CC, Ji J, Santani A, Bayrak-Toydemir P, Wachsmann M, Wain KE, Mao R. SoRelle JA, et al. Among authors: funke bh. J Mol Diagn. 2024 Mar;26(3):159-167. doi: 10.1016/j.jmoldx.2023.11.008. Epub 2023 Dec 14. J Mol Diagn. 2024. PMID: 38103592 Review.
Implementation, Evolution, and Laboratory Performance of Methods-Based Proficiency Testing for Next-Generation Sequencing Detection of Germline Sequence Variants.
Tsuchiya KD, Funke B, Hegde M, Santani A, Souers RJ, Szelinger S, Halley J, Zhao Q, Mot N, Roy A, Smith VL, Zhang BM, Voelkerding K, Moyer AM. Tsuchiya KD, et al. Among authors: funke b. Arch Pathol Lab Med. 2023 Oct 18. doi: 10.5858/arpa.2023-0090-CP. Online ahead of print. Arch Pathol Lab Med. 2023. PMID: 37852169 Free article.
Correction to: The genetic architecture of Plakophilin 2 cardiomyopathy.
Dries AM, Kirillova A, Reuter CM, Garcia J, Zouk H, Hawley M, Murray B, Tichnell C, Pilichou K, Protonotarios A, Medeiros-Domingo A, Kelly MA, Baras A, Ingles J, Semsarian C, Bauce B, Celeghin R, Basso C, Jongbloed JDH, Nussbaum RL, Funke B, Cerrone M, Mestroni L, Taylor MRG, Sinagra G, Merlo M, Saguner AM, Elliott PM, Syrris P, van Tintelen JP; Regeneron Genetics Center; James CA, Haggerty CM, Parikh VN. Dries AM, et al. Among authors: funke b. Genet Med. 2021 Oct;23(10):2014. doi: 10.1038/s41436-021-01298-4. Genet Med. 2021. PMID: 34408292 Free PMC article. No abstract available.
155 results