| A novel mutation in SLC39A14 causing hypermanganesemia associated with infantile onset dystonia M Juneja, U Shamim, A Joshi, A Mathur, B Uppili, S Sairam, S Ambawat, ... The Journal of Gene Medicine 20 (4), e3012, 2018 | 34 | 2018 |
| Integrated genomic view of SARS-CoV-2 in India P Kumar, R Pandey, P Sharma, MS Dhar, A Vivekanand, B Uppili, ... Wellcome open research 5, 2020 | 33 | 2020 |
| Respiratory co-infections: modulators of SARS-CoV-2 patients’ clinical sub-phenotype P Mehta, S Sahni, S Siddiqui, N Mishra, P Sharma, S Sharma, A Tyagi, ... Frontiers in microbiology 12, 653399, 2021 | 25 | 2021 |
| Spatio-temporal dynamics of intra-host variability in SARS-CoV-2 genomes AK Pathak, GP Mishra, B Uppili, S Walia, S Fatihi, T Abbas, S Banu, ... Nucleic Acids Research 50 (3), 1551-1561, 2022 | 22 | 2022 |
| Frequency spectrum of rare and clinically relevant markers in multiethnic Indian populations (ClinIndb): A resource for genomic medicine in India A Narang, B Uppilli, A Vivekanand, S Naushin, A Yadav, K Singhal, ... Human Mutation 41 (11), 1833-1847, 2020 | 13 | 2020 |
| C9orf72 hexanucleotide repeat expansion in Indian patients with ALS: a common founder and its geographical predilection U Shamim, S Ambawat, J Singh, A Thomas, C Pradeep-Chandra-Reddy, ... Neurobiology of aging 88, 156. e1-156. e9, 2020 | 13 | 2020 |
| EasyQC: tool with interactive user interface for efficient next-generation sequencing data quality control VR Rangamaran, B Uppili, D Gopal, K Ramalingam Journal of Computational Biology 25 (12), 1301-1311, 2018 | 11 | 2018 |
| Genetics of ataxias in Indian population: a collative insight from a common genetic screening tool P Sharma, AK Sonakar, N Tyagi, V Suroliya, M Kumar, R Kutum, ... Advanced Genetics 3 (2), 2100078, 2022 | 8 | 2022 |
| Vaccine breakthrough infections by SARS-CoV-2 variants after ChAdOx1 nCoV-19 vaccination in healthcare workers P Kale, E Gupta, C Bihari, N Patel, S Rooge, A Pandey, M Bajpai, ... Vaccines 10 (1), 54, 2021 | 8 | 2021 |
| Clinicogenomic analysis of breakthrough infections by SARS CoV2 variants after ChAdOx1 nCoV-19 vaccination in healthcare workers P Kale, E Gupta, C Bihari, N Patel, S Rooge, A Pandey, M Bajpai, ... medRxiv, 2021.06. 28.21259546, 2021 | 8 | 2021 |
| Next-generation sequencing for congenital nephrotic syndrome: A multi-center cross-sectional study from India A Joshi, A Sinha, A Sharma, U Shamim, B Uppilli, P Sharma, S Zahra, ... Indian Pediatrics 58 (5), 445-451, 2021 | 7 | 2021 |
| Reinfection or reactivation: Genome‐based two distinct SNP profile of SARS‐CoV2 repositivity in an Indian case MS Dhar, V Asokachandran, B Uppili, N Tyagi, P Sharma, S Tiwari, ... Journal of Medical Virology 93 (7), 4152, 2021 | 6 | 2021 |
| Sequencing through hyperexpanded Friedreich’s ataxia-GAA repeats by nanopore technology: implications in genotype–phenotype correlation B Uppili, P Sharma, I Ahmad, S Sahni, V Asokachandran, AB Nagaraja, ... Brain Communications 5 (2), fcad020, 2023 | 5 | 2023 |
| Investigation of RFC1 tandem nucleotide repeat locus in diverse neurodegenerative outcomes in an Indian cohort N Tyagi, B Uppili, P Sharma, S Parveen, S Saifi, A Jain, A Sonakar, ... neurogenetics 25 (1), 13-25, 2024 | 1 | 2024 |
| Genotype–phenotype correlation and natural history study of dysferlinopathy: a single-centre experience from India S Nashi, K Polavarapu, M Bardhan, RM Anjanappa, V Preethish-Kumar, ... neurogenetics 24 (1), 43-53, 2023 | 1 | 2023 |
| Intra-host variability in global SARS-CoV-2 genomes as signatures of RNA editing: implications in viral and host response outcomes AK Pathak, S Fatihi, T Abbas, B Uppili, GP Mishra, A Ghosh, S Banu, ... bioRxiv, 2020.12. 09.417519, 2020 | 1 | 2020 |
| A novel mutation in SGSH causing Sanfillipo type 3A Mucopolysaccharidoses in an Indian family Jyotsna Singh, P.K. Muhamma, Sweta Jain, Aradhna Mathur, Shaista Parveen ... Molecular Genetics and Metabolism Reports 15, 124–126, 2018 | 1 | 2018 |
| STRIDE-DB: a comprehensive database for exploration of instability and phenotypic relevance of short tandem repeats in the human genome B Uppili, M Faruq Database 2024, baae020, 2024 | | 2024 |
| A STROKE GENE PANEL: TO DECIPHER THE PATHOGENIC VARIANTS A Maheshwari, B Uppili, A Srivastava, D Dash, M Faruq, K Prasad INTERNATIONAL JOURNAL OF STROKE 18 (3), 302-302, 2023 | | 2023 |
| Genetic testing and family screening in idiopathic pediatric cardiomyopathy: a prospective observational study from a tertiary care center in North India DD Bhatt, S Mathews, V Ahuja, U Shamim, B Uppilli, S Bari, D Kumar, ... Egyptian Journal of Medical Human Genetics 24 (1), 35, 2023 | | 2023 |
Mohd FaruqCSIR-Institute of Genomics and Integrative Biology, New Delhi, IndiaVerified email at igib.in
