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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: hegde m. JAMA Netw Open. 2023 Jul 3;6(7):e2326445. doi: 10.1001/jamanetworkopen.2023.26445. JAMA Netw Open. 2023. PMID: 37523181 Free PMC article.
Evidence from 2100 index cases supports genome sequencing as a first-tier genetic test.
Guo F, Liu R, Pan Y, Collins C, Bean L, Ma Z, Mathur A, Da Silva C, Nallamilli B, Guruju N, Chen-Deutsch X, Yousaf R, Chin E, Balciuniene J, Hegde M. Guo F, et al. Among authors: hegde m. Genet Med. 2024 Jan;26(1):100995. doi: 10.1016/j.gim.2023.100995. Epub 2023 Oct 12. Genet Med. 2024. PMID: 37838930 Free 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: hegde m. J Mol Diagn. 2024 Jun;26(6):510-519. doi: 10.1016/j.jmoldx.2024.03.005. Epub 2024 Apr 4. J Mol Diagn. 2024. PMID: 38582400
More Than a Decade of Rapid Genomic Sequencing: Where Are We Now?
Saunders CJ, Brunelli L, Deem MJ, Farrow EG, Hegde M, Stark Z. Saunders CJ, et al. Among authors: hegde m. Clin Chem. 2024 Apr 3;70(4):577-583. doi: 10.1093/clinchem/hvae025. Clin Chem. 2024. PMID: 38565214 No abstract available.
694 results