Clinical genomics publications
1. Khadilkar SV, Chaudhari AD, Singla MB, Dastur RS, Gaitonde PS, Bhutada AG, Hegde MR. Early and Consistent Pattern of Proximal Weakness in GNE Myopathy. Muscle Nerve. 2020 Nov 16. doi: 10.1002/mus.27117. Epub ahead of print. PMID: 33197058.
2. Chakravorty S, Nallamilli B, Khadilkar S, Singla MB, et al., Hegde M Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent. (2020) Front. Neurol. 2020 Nov 5. doi: 10.3389/fneur.2020.559327 PMID: 33250842 PMCID: PMC7674836
3. Shen JJ, Wortmann SB, de Boer L, Kluijtmans LAJ, Huigen MCDG, Koch J, Ross S, Collins CD, van der Lee R, van Karnebeek CDM, Hegde MR. The role of clinical response to treatment in determining pathogenicity of genomic variants. Genet Med. 2020 Oct 22. doi: 10.1038/s41436-020-00996-9. Epub ahead of print. PMID: 33087887.
4. Nallamilli BRR, Chakravorty S, Kesari A, Bean L, Hegde M. Reply: Autosomal dominant segregation of CAPN3 c.598_612del15 associated with a mild form of calpainopathy. (2020) Ann Clin Transl Neurol. 2020 Oct 15. doi: 10.1002/acn3.51192. PMID: 33058423 PMCID: PMC7732248
5. Chaubey A, Shenoy S, Mathur A, Ma Z, Valencia CA, Reddy Nallamilli BR, Szekeres E Jr, Stansberry L, Liu R, Hegde MR. 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. J Mol Diagn. 2020 Jun;22(6):823-840. PMID: 32344035
6. Hagenkord J, Funke B, Qian E, Hegde M, Jacobs KB, Ferber M, Lebo M, Buchanan A, Bick D. Design and Reporting Considerations for Genetic Screening Tests. J Mol Diagn. 2020 May;22(5):599-609. doi: 10.1016/j.jmoldx.2020.01.014. Epub 2020 Feb 22. PMID: 32092541
7. Bevilacqua JA, Guecaimburu Ehuletche MDR, Perna A, Dubrovsky A, Franca MC Jr, Vargas S, Hegde M, Claeys KG, Straub V, Daba N, Faria R, Periquet M, Sparks S, Thibault N, Araujo R. The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease. Orphanet J Rare Dis. 2020 Jan 13;15(1):11. doi: 10.1186/s13023-019-1291-2. PMID: 31931849; PMCID: PMC6958675.
8. Chakravorty S, Berger K, Arafat D, Nallamilli BRR, Subramanian HP, Joseph S, Anderson ME, Campbell KP, Glass J, Gibson G, Hegde M. Clinical utility of RNA sequencing to resolve unusual GNE myopathy with a novel promoter deletion. Muscle Nerve. 2019 Jul;60(1):98-103. doi: 10.1002/mus.26486. PMID:30990900 PMCID: PMC7688010
9. King, L. S., Pan, Y., Nallamilli, B. R. R., Hegde, M., Lakshmanan, J., Ramachander, V., … & Colzani, R. (2023). Pompe disease ascertained through The Lantern Project, 2018–2021: Next-generation sequencing and enzymatic testing to overcome obstacles to diagnosis. Molecular Genetics and Metabolism, 107565.
10. Nallamilli, B. R. R., Pan, Y., Sniderman King, L., Jagannathan, L., Ramachander, V., Lucas, A., Markind, J., Colzani, R., & Hegde, M. (2023). Combined sequence and copy number analysis improves diagnosis of limb girdle and other myopathies. Annals of clinical and translational neurology, 10.1002/acn3.51896. Advance online publication. PMID: 37688281
11. Balciuniene, J., Liu, R., Bean, L., Guo, F., Nallamilli, B. R. R., Guruju, N., Chen-Deutsch, X., Yousaf, R., Fura, K., Chin, E., Mathur, A., Ma, Z., Carmichael, J., da Silva, C., Collins, C., & Hegde, M. (2023). At-Risk Genomic Findings for Pediatric-Onset Disorders From Genome Sequencing vs Medically Actionable Gene Panel in Proactive Screening of Newborns and Children. JAMA network open, 6(7), e2326445. PMID: 37523181 PMCID: PMC10391308
12. Stiles AR, Donti TR, Hall PL, Wilcox WR; ACMG Laboratory Quality Assurance Committee. Electronic address: documents@acmg.net. Biomarker testing for lysosomal diseases: A technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2024 Nov 4:101242. doi: 10.1016/j.gim.2024.101242. Epub ahead of print. PMID: 39499245.
13. Pan Y, Nallamilli BRR, Liu R, et al Unveiling non-coding DMD variants: synergising RNA sequencing and DNA sequencing for enhanced molecular diagnosis. Journal of Medical Genetics Published Online First: 11 December 2024. doi: 10.1136/jmg-2024-110152.
COVID19 publications
1. Sahajpal NS, Mondal AK, Njau A, Ananth S, Jones K, Ahluwalia PK, Ahluwalia M, Jilani Y, Chaubey A, Hegde M, Kota V, Rojiani A, Kolhe R. Effective optimization of SARS-CoV-2 laboratory testing variables in an era of supply chain constraints. Future Microbiol. 2020 Nov 12:1483-1487. doi: 10.2217/fmb-2020-0094. Epub ahead of print. PMID: 33179525.
2. Sahajpal NS, Mondal AK, Njau A, Ananth S, Jones K, Ahluwalia PK, Ahluwalia M, Jilani Y, Chaubey A, Hegde M, Kota V, Rojiani A, Kolhe R. Proposal of RT-PCR-Based Mass Population Screening for Severe Acute Respiratory Syndrome Coronavirus 2 (Coronavirus Disease 2019). J Mol Diagn. 2020 Oct;22(10):1294-1299. Epub 2020 Jul 30. PMID: 32738299
ACMG 2025
- Enhancing Laboratory Efficiency: Implementation of Revvity Transcribe AI for Automated Data Entry in Newborn Screening
- Genetic basis of dysferlinopathy, a comprehensive analysis of sequence and copy number variants from a large cohort of 686 patients
- Genome Screening of Newborns: what can we find and what’s next?
- Genomic breakpoint analysis facilitates identification of X-chromosomal inversion among molecularly unsolved cases of Duchenne Muscular Dystrophy.
- Role of de novo variants in genetic disorders with new insights and clinical implications
- The clinical utility of genome sequencing in the molecular diagnosis of genes related to inborn errors of metabolism
ACMG 2023
2. Development of a Hemolysis Index for Vanadis® cfDNA NIPT Sample Acceptance
4. How Does Multiomics Help Variant Reclassification?
9. Importance Of Parental Segregation Studies and its Role in Variant Classification
11. Efficiency of Genome Sequencing in Establishing Molecular Diagnosis in Undiagnosed Patients
14. Genomic and Biochemical Profile of Pseudodeficiency in Lysosomal Storage Disorders
ACMG 2022
1. Measurement of Nicotinamide Adenine Dinucleotide from Dried Blood Spot Cards
3. Genetic testing for APOB, LDLR, PCSK9, and LDLRAP1 suggest that FH testing may be underutilized
4. Repeat expansion disorders screening by WGS: strategy and stumbling blocks
6. Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy (FSHD) using Optical Genome Mapping
7. A Diverse Set of Case Presentation Highlight the Power of Whole Genome Sequencing – What Next?
8. Fast Forward – Is Multiomics a resurgence of old?
10. Tackling the COVID-19 Pandemic by Utilizing Next Generation Sequencing Technologies
12. Improved Vanadis® cfDNA Platform for Detection of T13 T18 and T21 and Sex Chromosome Abnormalities
13. Universal Newborn Screening of Congenital Cytomegalovirus using Dried Blood Spots and qPCR
15. A united front on tackling a pandemic – the true value of industry and govt partnership
16. Detection of Congenital Cytomegalovirus Infection on High-Risk Newborn Population
ACMG 2021
ASHG 2022
NSGC 2019
Myology congress 2022
