Whole-exome sequencing identifies two novel ALMS1 mutations in Indian patients with Leber congenital amaurosis

por Srikrupa, Natarajan N., Sripriya, Sarangapani, Pavithra, Suriyanarayanan, Sen, Parveen, Gupta, Ravi, Mathavan, Sinnakaruppan
Publicado 2021

Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families

por Srilekha, Sundaramurthy, Arokiasamy, Tharigopala, Srikrupa, Natarajan N., Umashankar, Vetrivel, Meenakshi, Swaminathan, Sen, Parveen, Kapur, Suman, Soumittra, Nagasamy
Publicado 2015

Next-generation sequencing-based genetic testing and phenotype correlation in retinitis pigmentosa patients from India

por Sen, Parveen, Srikrupa, Natarajan, Maitra, Puja, Srilekha, Sundaramurthy, Porkodi, Periyasamy, Gnanasekaran, Harshavardhini, Bhende, Muna, Khetan, Vikas, Mathavan, Sinnakaruppan, Bhende, Pramod, Ratra, Dhanashree, Raman, Rajiv, Rao, Chetan, Sripriya, Sarangapani
Publicado 2023