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Detection of Dysferlin Gene Pathogenic Variants in the Indian Population in Patients Predicted to have a Dysferlinopathy Using a Blood-based Monocyte Assay and Clinical Algorithm: A Model for Accurate and Cost-effective Diagnosis.
Dastur RS, Gaitonde PS, Kachwala M, Nallamilli BRR, Ankala A, Khadilkar SV, Atchayaram N, Gayathri N, Meena AK, Rufibach L, Shira S, Hegde M. Dastur RS, et al. Among authors: nallamilli brr. Ann Indian Acad Neurol. 2017 Jul-Sep;20(3):302-308. doi: 10.4103/aian.AIAN_129_17. Ann Indian Acad Neurol. 2017. PMID: 28904466 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: nallamilli brr. 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
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: nallamilli brr. JAMA Netw Open. 2023 Jul 3;6(7):e2326445. doi: 10.1001/jamanetworkopen.2023.26445. JAMA Netw Open. 2023. PMID: 37523181 Free PMC article.
Pompe disease ascertained through The Lantern Project, 2018-2021: Next-generation sequencing and enzymatic testing to overcome obstacles to diagnosis.
Sniderman King L, Pan Y, Nallamilli BRR, Hegde M, Jagannathan L, Ramachander V, Lucas A, Markind J, Colzani R. Sniderman King L, et al. Among authors: nallamilli brr. Mol Genet Metab. 2023 May;139(1):107565. doi: 10.1016/j.ymgme.2023.107565. Epub 2023 Apr 5. Mol Genet Metab. 2023. PMID: 37087815 Free article.
Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent.
Chakravorty S, Nallamilli BRR, Khadilkar SV, Singla MB, Bhutada A, Dastur R, Gaitonde PS, Rufibach LE, Gloster L, Hegde M. Chakravorty S, et al. Among authors: nallamilli brr. Front Neurol. 2020 Nov 5;11:559327. doi: 10.3389/fneur.2020.559327. eCollection 2020. Front Neurol. 2020. PMID: 33250842 Free PMC article.
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