Genetic profile and mutation spectrum of Leber congenital amaurosis in a larger Indian cohort using high throughput targeted re‐sequencing by Srikrupa, N.N., Srilekha, S., Sen, P., Arokiasamy, T., Meenakshi, S., Bhende, M., Kapur, S., Soumittra, N.

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Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness by Neuillé, M., Malaichamy, S., Vadalà, M., Michiels, C., Condroyer, C., Sachidanandam, R., Srilekha, S., Arokiasamy, T., Letexier, M., Démontant, V., Sahel, J.-A., Sen, P., Audo, I., Soumittra, N., Zeitz, C.

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Organization and running of the first comprehensive hereditary cancer clinic in India by Rajkumar, T, Soumittra, N, Vidubala, E, Sridevi, V, Mahajan, V, Ramanan, Sg, Vijaya, S

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RPE65 gene: multiplex PCR and mutation screening in patients from India with retinal degenerative diseases by Joseph, Biju, Srinivasan, Anuradha, Soumittra, Nagasamy, Vidhya, Authiappan, Shetty, Nitin Sridhara, Uthra, Satagopan, Kumaramanickavel, Govindasamy

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Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families by Srilekha, Sundaramurthy, Arokiasamy, Tharigopala, Srikrupa, Natarajan N, Umashankar, Vetrivel, Meenakshi, Swaminathan, Sen, Parveen, Kapur, Suman, Soumittra, Nagasamy

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SLC4A11 mutations in Fuchs endothelial corneal dystrophy by Vithana, Eranga N., Morgan, Patricio E., Ramprasad, Vedam, Tan, Donald T.H., Yong, Victor H.K, Venkataraman, Divya, Venkatraman, Anandalakshmi, Yam, Gary H.F., Nagasamy, Soumittra, Law, Ricky W.K., Rajagopal, Rama, Pang, Chi P., Kumaramanickevel, Govindsamy, Casey, Joseph R., Aung, Tin

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Leber's Congenital Amaurosis as the Retinal Degenerative Phenotype in Thiamine Responsive Megaloblastic Anemia: A Case Report by Srikrupa, Natarajan N., Meenakshi, Swaminathan, Arokiasamy, Tharigopala, Murali, Kaushik, Soumittra, Nagasamy

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Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families: e0131679 by Srilekha, Sundaramurthy, Arokiasamy, Tharigopala, Srikrupa, Natarajan N, Umashankar, Vetrivel, Meenakshi, Swaminathan, Sen, Parveen, Kapur, Suman, Soumittra, Nagasamy

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Molecular genetics analysis of hereditary breast and ovarian cancer patients in India by Soumittra, Nagasamy, Meenakumari, Balaiah, Parija, Tithi, Sridevi, Veluswami, Nancy, Karunakaran N, Swaminathan, Rajaraman, Rajalekshmy, Kamalalayam R, Majhi, Urmila, Rajkumar, Thangarajan

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ABCC5, a Gene That Influences the Anterior Chamber Depth, Is Associated with Primary Angle Closure Glaucoma: e1004089 by Nongpiur, Monisha E, Khor, Chiea Chuen, Jia, Hongyan, Cornes, Belinda K, Chen, Li-Jia, Qiao, Chunyan, Nair, K Saidas, Cheng, Ching-Yu, Xu, Liang, George, Ronnie, Tan, Do, Abu-Amero, Khaled, Perera, Shamira A, Ozaki, Mineo, Mizoguchi, Takanori, Kurimoto, Yasuo, Low, Sancy, Tajudin, Liza-Sharmini A, Ho, Ching-Lin, Tham, Clement CY, Soto, Ileana, Chew, Paul TK, Wong, Hon-Tym, Shantha, Balekudaru, Kuroda, Masako, Osman, Essam A, Tang, Guangxian, Fan, Sujie, Meng, Hailin, Wang, Hua, Feng, Bo, Yong, Victor HK, Ting, Serena ML, Li, Yang, Wang, Ya-Xing, Li, Zheng, Lavanya, Raghavan, Wu, Ren-Yi, Zheng, Ying-Feng, Su, Daniel H, Loon, Seng-Chee, Allingham, R Rand, Hauser, Michael A, Soumittra, Nagaswamy, Ramprasad, Vedam L, Waseem, Naushin, Yaakub, Azhany, Chia, Kee-Seng, Kumaramanickavel, Govindasamy, Wong, Tina T, How, Alicia C, Chau, Tran NguyenBich, Simmons, Cameron P, Bei, Jin-Xin, Zeng, Yi-Xin, Bhattacharya, Shomi S, Zhang, Mingzhi, Tan, Donald T, Teo, Yik-Ying, Al-Obeidan, Saleh A, Hon, Do Nhu, Tai, E-Shyong, Saw, Seang-Mei, Foster, Paul J, Vijaya, Lingam, Jonas, Jost B, Wong, Tien-Yin, John, Simon WM, Pang, Chi-Pui, Vithana, Eranga N, Wang, Ningli, Aung, Tin

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Leber's Congenital Amaurosis as the Retinal Degenerative Phenotype in Thiamine Responsive Megaloblastic Anemia: A Case Report by Srikrupa, Natarajan N., Meenakshi, Swaminathan, Arokiasamy, Tharigopala, Murali, Kaushik, Soumittra, Nagasamy

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