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Next generation sequencing-based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies.
Ceyhan-Birsoy O, Pugh TJ, Bowser MJ, Hynes E, Frisella AL, Mahanta LM, Lebo MS, Amr SS, Funke BH. Ceyhan-Birsoy O, et al. Among authors: hynes e. Mol Genet Genomic Med. 2015 Dec 16;4(2):143-51. doi: 10.1002/mgg3.187. eCollection 2016 Mar. Mol Genet Genomic Med. 2015. PMID: 27066507 Free PMC article.
Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants.
DiStefano MT, Hemphill SE, Cushman BJ, Bowser MJ, Hynes E, Grant AR, Siegert RK, Oza AM, Gonzalez MA, Amr SS, Rehm HL, Abou Tayoun AN. DiStefano MT, et al. Among authors: hynes e. J Mol Diagn. 2018 Nov;20(6):789-801. doi: 10.1016/j.jmoldx.2018.06.005. Epub 2018 Aug 8. J Mol Diagn. 2018. PMID: 30096381 Free PMC article.
Neptune: an environment for the delivery of genomic medicine.
Eric V, Yi V, Murdock D, Kalla SE, Wu TJ, Sabo A, Li S, Meng Q, Tian X, Murugan M, Cohen M, Kovar C, Wei WQ, Chung WK, Weng C, Wiesner GL, Jarvik GP, Muzny D, Gibbs RA; eMERGE Consortium. Eric V, et al. Genet Med. 2021 Oct;23(10):1838-1846. doi: 10.1038/s41436-021-01230-w. Epub 2021 Jul 13. Genet Med. 2021. PMID: 34257418 Free PMC article.
Automated Pharmacogenomic Reports for Clinical Genome Sequencing.
Klanderman BJ, Koch C, Machini K, Parpattedar SS, Bandyadka S, Lin CF, Hynes E, Lebo MS, Amr SS. Klanderman BJ, et al. Among authors: hynes e. J Mol Diagn. 2022 Mar;24(3):205-218. doi: 10.1016/j.jmoldx.2021.12.001. Epub 2022 Jan 15. J Mol Diagn. 2022. PMID: 35041930 Free article.
79 results