Homozygosity mapping in Leber congenital amaurosis and autosomal recessive retinitis pigmentosa in South Indian families S Srilekha, T Arokiasamy, NN Srikrupa, V Umashankar, S Meenakshi, ... PloS one 10 (7), e0131679, 2015 | 45 | 2015 |
Genetic profile and mutation spectrum of Leber congenital amaurosis in a larger Indian cohort using high throughput targeted re‐sequencing NN Srikrupa, S Srilekha, P Sen, T Arokiasamy, S Meenakshi, M Bhende, ... Clinical genetics 93 (2), 329-339, 2018 | 18 | 2018 |
Leber’s Congenital Amaurosis as the Retinal Degenerative Phenotype in Thiamine Responsive Megaloblastic Anemia: A Case Report NN Srikrupa, S Meenakshi, T Arokiasamy, K Murali, N Soumittra Ophthalmic genetics 35 (2), 119-124, 2014 | 16 | 2014 |
Understanding variable disease severity in X-linked retinoschisis: Does RS1 secretory mechanism determine disease severity? AJP Sudha D, Neriyanuri S, Sachidanandam R, Natarajan SN, Gandra M ... PLoS One 13 (5), e0198086, 2018 | 15 | 2018 |
CERKL mutation causing retinitis pigmentosa (RP) in Indian population–a genotype and phenotype correlation study P Sen, P Maitra, S Natarajan, S Sripriya, S Mathavan, M Bhende, ... Ophthalmic Genetics 41 (6), 570-578, 2020 | 12 | 2020 |
Whole-exome sequencing identifies two novel ALMS1 mutations in Indian patients with Leber congenital amaurosis NN Srikrupa, S Sripriya, S Pavithra, P Sen, R Gupta, S Mathavan Human Genome Variation 8 (1), 12, 2021 | 5 | 2021 |
Severity of familial isolated retinitis pigmentosa across different inheritance patterns among an Asian Indian cohort P Bende, K Natarajan, T Marudhamuthu, J Madhavan Journal of Pediatric Ophthalmology & Strabismus 50 (1), 34-36, 2013 | 5 | 2013 |
Next generation sequencing based genetic testing and phenotype correlation in retinitis pigmentosa patients from india S Natarajan, S Parveen, M Puja, S Sundaramurthy, P Periyasamy, ... Indian Journal of Ophthalmology 71 (6), 2512-2520, 2023 | 3 | 2023 |
RPE65 Mutations May be a Common Cause of Leber Congenital Amaurosis in India M Gandra, SN Natarajan, V Khetan, JP Arunachalam, G Lingam, ... Investigative Ophthalmology & Visual Science 51 (13), 2579-2579, 2010 | 2 | 2010 |
An Overview on the Genetic Etiology, Testing, and Therapeutic Options for Retinitis Pigmentosa. SS Srikrupa N. Natarajan, Harshavardhini Gnanasekaran, Suganya Kandeeban ... Genetics of Ocular Diseases 1, pp 143-163, 2022 | 1 | 2022 |
The genetics and epigenetics of myopia: An overview. SS Srikrupa N. Natarajan, Syed Ali Fathima Afrin Myopia: Prevalence, risk factors and management 1, 21-44, 2024 | | 2024 |
Next Generation Sequencing in presumptive diagnosis of syndromes in childhood retinal dystrophies-case series from India H Gnanasekaran, SN Natarajan, M Bhende, P Divya, P Sen, S Nagasamy, ... Human Gene 39, 201262, 2024 | | 2024 |
RNA biomarker discovery in Polypoidal Choroidal Vasculopathy (PCV): Pharmacogenomics approach M Sinnakaruppan, LP Alagappan, K Suganya, TM Pradeep, NN Srikrupa, ... Investigative Ophthalmology & Visual Science 60 (9), 3452-3452, 2019 | | 2019 |
Leber Congenital Amaurosis Clinical Profiling and Genetic Analysis Using High Throughput Resequencing in an Indian Cohort N Srikrupa Pilani, 2018 | | 2018 |