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Nagasamy Soumittra

Observed names: N Soumittra, N. Soumittra, Soumittra Nagasamy
ORCID: 0000-0002-0401-9601
Observed ORCID: 0000-0002-0401-9601
OpenAlex ID: A5044727580
SLC4A11 mutations in Fuchs endothelial corneal dystrophy
2007 · Eranga N. Vithana, Patricio E. Morgan, et al. · Human Molecular Genetics · 254
Association of non-synonymous single nucleotide polymorphisms in the LOXL1 gene with pseudoexfoliation syndrome in India.
2008 · Vedam Lakshmi Ramprasad, Ronnie George, et al. · PubMed Central · 103
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CERKL Mutations Cause an Autosomal Recessive Cone-Rod Dystrophy with Inner Retinopathy
2009 · Tomas S. Aleman, Nagasamy Soumittra, et al. · Investigative Ophthalmology & Visual Science · 92
BRCA1, BRCA2 and CHEK2 (1100 del C) germline mutations in hereditary breast and ovarian cancer families in South India.
2003 · Thangarajan Rajkumar, Nagasamy Soumittra, et al. · PubMed · 50
Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families
2015 · Sundaramurthy Srilekha, Tharigopala Arokiasamy, et al. · PLoS ONE · 40
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A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration.
2008 · Manir Ali, Vedam Lakshmi Ramprasad, et al. · PubMed Central · 38
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Biosynthetic and functional defects in newly identified SLC4A11 mutants and absence of COL8A2 mutations in Fuchs endothelial corneal dystrophy
2014 · Nagasamy Soumittra, Sampath K Loganathan, et al. · Journal of Human Genetics · 37
Molecular genetics analysis of hereditary breast and ovarian cancer patients in India
2009 · Nagasamy Soumittra, Balaiah Meenakumari, et al. · Hereditary Cancer in Clinical Practice · 28
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Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis.
2008 · Vedam Lakshmi Ramprasad, Nagasamy Soumittra, et al. · PubMed Central · 25
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Leber's Hereditary Optic Neuropathy–Specific Mutation m.11778G>A Exists on Diverse Mitochondrial Haplogroups in India
2017 · Nahid Akhtar Khan, Periyasamy Govindaraj, et al. · Investigative Ophthalmology & Visual Science · 24
Next‐generation sequencing confirms the implication of SLC24A1 in autosomal‐recessive congenital stationary night blindness
2016 · M. Neuillé, S. Malaichamy, et al. · Clinical Genetics · 24
Association of polymorphisms in the intron of TCF4 gene to late-onset Fuchs endothelial corneal dystrophy: An Indian cohort study
2017 · Bhavna S Rao, Arokiasamy Tharigopala, et al. · Indian Journal of Ophthalmology · 23
Genetic profile and mutation spectrum of Leber congenital amaurosis in a larger Indian cohort using high throughput targeted re‐sequencing
2017 · N.N. Srikrupa, S. Srilekha, et al. · Clinical Genetics · 22
Haplogroup Heterogeneity of LHON Patients Carrying the m.14484T>C Mutation in India
2013 · Nahid Akhtar Khan, Periyasamy Govindaraj, et al. · Investigative Ophthalmology & Visual Science · 22
Mutation Analysis of hMSH2 and hMLH1 in Colorectal Cancer Patients in India
2004 · Thangarajan Rajkumar, Nagasamy Soumittra, et al. · Genetic Testing · 22
Molecular profiling of complete congenital stationary night blindness: a pilot study on an Indian cohort.
2014 · Sivasankar Malaichamy, Parveen Sen, et al. · Europe PMC (PubMed Central) · 21
Analysis of candidate genes ZEB1 and LOXHD1 in late-onset Fuchs’ endothelial corneal dystrophy in an Indian cohort
2018 · Bhavna S. Rao, Samdani Ansar, et al. · Ophthalmic Genetics · 16
Leber’s Congenital Amaurosis as the Retinal Degenerative Phenotype in Thiamine Responsive Megaloblastic Anemia: A Case Report
2013 · Natarajan N. Srikrupa, Swaminathan Meenakshi, et al. · Ophthalmic Genetics · 16
RPE65 gene: Multiplex PCR and mutation screening in patients from India with retinal degenerative diseases
2002 · Biju Joseph, Anuradha Srinivasan, et al. · Journal of Genetics · 15
Family-Based Genome-Wide Association Study of South Indian Pedigrees Supports WNT7B as a Central Corneal Thickness Locus
2018 · Bao Jian Fan, Xueli Chen, et al. · Investigative Ophthalmology & Visual Science · 12
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Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study
2024 · Austin D Igelman, Elizabeth White, et al. · British Journal of Ophthalmology · 10
Prevalence of primary mutations in Leber hereditary optic neuropathy: A five-year report from a tertiary eye care center in India.
2021 · Srilekha Sundaramurthy, Ambika Selvakumar, et al. · PubMed Central · 9
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Retinal findings in a patient of French ancestry with CABP4-related retinal disease
2018 · Vasily Mikhaïlovitch Smirnov, Christina Zeitz, et al. · Documenta Ophthalmologica · 9
Ophthatome™: an integrated knowledgebase of ophthalmic diseases for translating vision research into the clinic
2020 · Praveen Raj, Sushma Tejwani, et al. · BMC Ophthalmology · 8
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Homozygosity mapping guided next generation sequencing to identify the causative genetic variation in inherited retinal degenerative diseases
2016 · Srilekha Sundaramurthy, Meenakshi Swaminathan, et al. · Journal of Human Genetics · 8
Works count: 45
Citation count: 955
H-index: 16
I10-index: 21
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