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A novel dysferlin mutant pseudoexon bypassed with antisense oligonucleotides.
Dominov JA, Uyan O, Sapp PC, McKenna-Yasek D, Nallamilli BR, Hegde M, Brown RH Jr. Dominov JA, et al. Among authors: nallamilli br. Ann Clin Transl Neurol. 2014 Sep;1(9):703-20. doi: 10.1002/acn3.96. Epub 2014 Sep 27. Ann Clin Transl Neurol. 2014. PMID: 25493284 Free PMC article.
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. 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.
Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy in Patients Clinically Suspected of FSHD Using Optical Genome Mapping.
Guruju NM, Jump V, Lemmers R, Van Der Maarel S, Liu R, Nallamilli BR, Shenoy S, Chaubey A, Koppikar P, Rose R, Khadilkar S, Hegde M. Guruju NM, et al. Among authors: nallamilli br. Neurol Genet. 2023 Nov 22;9(6):e200107. doi: 10.1212/NXG.0000000000200107. eCollection 2023 Dec. Neurol Genet. 2023. PMID: 38021397 Free PMC 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: 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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