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Development and performance of a comprehensive targeted sequencing assay for pan-ethnic screening of carrier status.
Tanner AK, Valencia CA, Rhodenizer D, Espirages M, Da Silva C, Borsuk L, Caldwell S, Gregg E, Grimes E, Lichanska AM, Morris L, Purkayastha A, Weslowski B, Tibbetts C, Lorence MC, Hegde M. Tanner AK, et al. Among authors: valencia ca. J Mol Diagn. 2014 May;16(3):350-60. doi: 10.1016/j.jmoldx.2013.12.003. Epub 2014 Feb 8. J Mol Diagn. 2014. PMID: 24517888 Free article.
Low-Pass Genome Sequencing: Validation and Diagnostic Utility from 409 Clinical Cases of Low-Pass Genome Sequencing for the Detection of Copy Number Variants to Replace Constitutional Microarray.
Chaubey A, Shenoy S, Mathur A, Ma Z, Valencia CA, Reddy Nallamilli BR, Szekeres E Jr, Stansberry L, Liu R, Hegde MR. Chaubey A, et al. Among authors: valencia ca. J Mol Diagn. 2020 Jun;22(6):823-840. doi: 10.1016/j.jmoldx.2020.03.008. Epub 2020 Apr 25. J Mol Diagn. 2020. PMID: 32344035 Free article.
A single NGS-based assay covering the entire genomic sequence of the DMD gene facilitates diagnostic and newborn screening confirmatory testing.
Nallamilli BRR, Chaubey A, Valencia CA, Stansberry L, Behlmann AM, Ma Z, Mathur A, Shenoy S, Ganapathy V, Jagannathan L, Ramachander V, Ferlini A, Bean L, Hegde M. Nallamilli BRR, et al. Among authors: valencia ca. Hum Mutat. 2021 May;42(5):626-638. doi: 10.1002/humu.24191. Epub 2021 Mar 19. Hum Mutat. 2021. PMID: 33644936
70 results