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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: ma z. Hum Mutat. 2021 May;42(5):626-638. doi: 10.1002/humu.24191. Epub 2021 Mar 19. Hum Mutat. 2021. PMID: 33644936
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: ma z. 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.
At-Risk Genomic Findings for Pediatric-Onset Disorders From Genome Sequencing vs Medically Actionable Gene Panel in Proactive Screening of Newborns and Children.
Balciuniene J, Liu R, Bean L, Guo F, Nallamilli BRR, Guruju N, Chen-Deutsch X, Yousaf R, Fura K, Chin E, Mathur A, Ma Z, Carmichael J, da Silva C, Collins C, Hegde M. Balciuniene J, et al. Among authors: ma z. JAMA Netw Open. 2023 Jul 3;6(7):e2326445. doi: 10.1001/jamanetworkopen.2023.26445. JAMA Netw Open. 2023. PMID: 37523181 Free PMC article.
Focused Exome Sequencing Gives a High Diagnostic Yield in the Indian Subcontinent.
Duraisamy AJ, Liu R, Sureshkumar S, Rose R, Jagannathan L, da Silva C, Coovadia A, Ramachander V, Chandrasekar S, Raja I, Sajnani M, Selvaraj SM, Narang B, Darvishi K, Bhayal AC, Katikala L, Guo F, Chen-Deutsch X, Balciuniene J, Ma Z, Nallamilli BRR, Bean L, Collins C, Hegde M. Duraisamy AJ, et al. Among authors: ma z. J Mol Diagn. 2024 Apr 4:S1525-1578(24)00063-1. doi: 10.1016/j.jmoldx.2024.03.005. Online ahead of print. J Mol Diagn. 2024. PMID: 38582400
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