Leber hereditary optic neuropathy—new insights and old challenges
Sundaramurthy, Srilekha, SelvaKumar, Ambika, Ching, Jared, Dharani, Vidhya, Sarangapani, Sripriya, Yu-Wai-Man, Patrick
Published in Graefe's archive for clinical and experimental ophthalmology (01.09.2021)
Published in Graefe's archive for clinical and experimental ophthalmology (01.09.2021)
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Journal Article
Next-generation sequencing--based genetic testing and phenotype correlation in retinitis pigmentosa patients from India
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
Published in Indian journal of ophthalmology (01.06.2023)
Published in Indian journal of ophthalmology (01.06.2023)
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Journal Article
Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families
Srilekha, Sundaramurthy, Arokiasamy, Tharigopala, Srikrupa, Natarajan N, Umashankar, Vetrivel, Meenakshi, Swaminathan, Sen, Parveen, Kapur, Suman, Soumittra, Nagasamy
Published in PloS one (06.07.2015)
Published in PloS one (06.07.2015)
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Journal Article
Homozygosity mapping guided next generation sequencing to identify the causative genetic variation in inherited retinal degenerative diseases
Sundaramurthy, Srilekha, Swaminathan, Meenakshi, Sen, Parveen, Arokiasamy, Tharigopala, Deshpande, Swati, John, Neetha, Gadkari, Rupali A, Mannan, Ashraf U, Soumittra, Nagasamy
Published in Journal of human genetics (01.11.2016)
Published in Journal of human genetics (01.11.2016)
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Journal Article
Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study
Igelman, Austin D, White, Elizabeth, Tayyib, Alaa, Everett, Lesley, Vincent, Ajoy, Heon, Elise, Zeitz, Christina, Michaelides, Michel, Mahroo, Omar A, Katta, Mohamed, Webster, Andrew, Preising, Markus, Lorenz, Birgit, Khateb, Samer, Banin, Eyal, Sharon, Dror, Luski, Shahar, Van Den Broeck, Filip, Leroy, Bart Peter, De Baere, Elfride, Walraedt, Sophie, Stingl, Katarina, Kuehlewein, Laura, Kohl, Susanne, Reith, Milda, Fulton, Anne, Raghuram, Aparna, Meunier, Isabelle, Dollfus, Hélène, Aleman, Tomas S, Bedoukian, Emma C, O'Neil, Erin C, Krauss, Emily, Vincent, Andrea, Jordan, Charlotte, Iannaccone, Alessandro, Sen, Parveen, Sundaramurthy, Srilekha, Nagasamy, Soumittra, Balikova, Irina, Casteels, Ingele, Borooah, Shyamanga, Yassin, Shaden, Nagiel, Aaron, Schwartz, Hillary, Zanlonghi, Xavier, Gottlob, Irene, McLean, Rebecca J, Munier, Francis L, Stephenson, Andrew, Sisk, Robert, Koenekoop, Robert, Wilson, Lorri B, Fredrick, Douglas, Choi, Dongseok, Yang, Paul, Pennesi, Mark Edward
Published in British journal of ophthalmology (30.07.2024)
Published in British journal of ophthalmology (30.07.2024)
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Journal Article
Prevalence of primary mutations in Leber hereditary optic neuropathy: A five-year report from a tertiary eye care center in India
Sundaramurthy, Srilekha, Selvakumar, Ambika, Dharani, Vidhya, Soumittra, Nagasamy, Mani, Jayaprakash, Thirumalai, Karthiyayini, Periyasamy, Porkodi, Mathavan, Sinnakaruppan, Sripriya, Sarangapani
Published in Molecular vision (2021)
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Published in Molecular vision (2021)
Journal Article
Novel human pathological mutations. Gene symbol: RPE65. Disease: Leber congenital amaurosis
Gandra, Mamatha, Elamparithi, Anuradha, Sundaramurthy, Srilekha, Srivatsan, Sripriya
Published in Human genetics (01.04.2010)
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Published in Human genetics (01.04.2010)
Journal Article
Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness
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.
Published in Clinical epigenetics (01.06.2016)
Published in Clinical epigenetics (01.06.2016)
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Journal Article
Retinitis pigmentosa: mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from India
Gandra, Mamatha, Anandula, Venkataramana, Authiappan, Vidhya, Sundaramurthy, Srilekha, Raman, Rajiv, Bhattacharya, Shomi, Govindasamy, Kumaramanickavel
Published in Molecular vision (14.06.2008)
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Published in Molecular vision (14.06.2008)
Journal Article
Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families: e0131679
Srilekha, Sundaramurthy, Arokiasamy, Tharigopala, Srikrupa, Natarajan N, Umashankar, Vetrivel, Meenakshi, Swaminathan, Sen, Parveen, Kapur, Suman, Soumittra, Nagasamy
Published in PloS one (01.07.2015)
Published in PloS one (01.07.2015)
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Journal Article
Gene symbol: RPE65. Disease: Leber's congenital amaurosis. Accession #Hm0548
Gandra, Mamatha, Sundaramurthy, Srilekha, Kumaramanickavel, Govindasamy
Published in Human genetics (01.02.2006)
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Published in Human genetics (01.02.2006)
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