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ARVO Annual Meeting Abstract June 2020

Genetic Correlation between Corneal Hysteresis and Vertical Cup-disc Ratio in South Indian Consanguineous Pedigrees

Baojian Fan; P Ferdina Marie Sharmila; N Soumittra; Sripriya Sarangapani; Xiaoyi Gao; David S Friedman; L Vijaya; Jonathan L Haines; Ronnie J George; Janey Wiggs

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):1253. doi:

ARVO Annual Meeting Abstract July 2019

Family-based Genome-wide Association Study in South Indian Consanguineous Pedigrees Identifies an Association between LPHN3 and Vertical Cup-disc Ratio

Baojian Fan; P Ferdina Marie Sharmila; N Soumittra; S Sripriya; X. Raymond Gao; David S Friedman; L Vijaya; Jonathan L Haines; Ronnie J George; Janey L Wiggs

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):1618. doi:

ARVO Annual Meeting Abstract July 2018

Ocular phenome-wide association study (PheWAS) of glaucoma-associated genes identifies significant associations with ocular quantitative traits

Baojian Fan; Vimal Konduri; P Ferdina Marie Sharmila; N. Soumittra; S. Sripriya; David S Friedman; L. Vijaya; Jonathan L Haines; Ronnie J. George; Janey L Wiggs

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):5135. doi:

ARVO Annual Meeting Abstract July 2018

Genetic Survey of the Primary Mitochondrial Mutations along with Clinical Correlation in suspected Leber Hereditary Optic Neuropathy (LHON) patients from an Indian Cohort

Srilekha Sundaramurthy; Jayaprakash Mani; Vidhya Dharani; Soumittra Nagasamy; Sripriya Sarangapani; Mathavan Sinnakaruppan; Ambika SelvaKumar

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):3355. doi:

Genetics May 2018

Family-Based Genome-Wide Association Study of South Indian Pedigrees Supports WNT7B as a Central Corneal Thickness Locus

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Bao Jian Fan; Xueli Chen; Nisha Sondhi; P. Ferdinamarie Sharmila; Nagasamy Soumittra; Sarangapani Sripriya; Srinivasan Sacikala; Rashima Asokan; David S. Friedman; Louis R. Pasquale; X. Raymond Gao; Lingam Vijaya; Jessica Cooke Bailey; Veronique Vitart; Stuart MacGregor; Christopher J. Hammond; Chiea Chuen Khor; Jonathan L. Haines; Ronnie George; Janey L. Wiggs; for the Mexican American Glaucoma Genetic Study; International Glaucoma Genetics Consortium; and NEIGHBORHOOD Consortium
TAGS: cohort studies, cornea, family, genetic pedigree, genome-wide association study, single nucleotide polymorphism
Invest. Ophthalmol. Vis. Sci.. 2018; 59(6):2495-2502. doi: https://doi.org/10.1167/iovs.17-23536

Includes: Supplemental Content

Letters to the Editor January 2018

Author Response: Penetrance of the LHON Mutation m.11778G>A May Depend on Factors Other Than Haplotype or Heteroplasmy Rate

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Nahid Akhtar Khan; Periyasamy Govindaraj; Nagasamy Soumittra; Sonika Sharma; Sundaramoorthy Srilekha; Selvakumar Ambika; Ayyasamy Vanniarajan; Angamuthu Kanikannan Meena; Megha S. Uppin; Challa Sundaram; Parayil Sankaran Bindu; Narayanappa Gayathri; Arun B. Taly; Kumarasamy Thangaraj
TAGS: haplotypes, heteroplasmy, mutation, optic atrophy, hereditary, leber, penetrance, genetic
Invest. Ophthalmol. Vis. Sci.. 2018; 59(1):382. doi: https://doi.org/10.1167/iovs.17-23468

Genetics August 2017

Leber's Hereditary Optic Neuropathy–Specific Mutation m.11778G>A Exists on Diverse Mitochondrial Haplogroups in India

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Nahid Akhtar Khan; Periyasamy Govindaraj; Nagasamy Soumittra; Sonika Sharma; Sundaramoorthy Srilekha; Selvakumar Ambika; Ayyasamy Vanniarajan; Angamuthu Kanikannan Meena; Megha S. Uppin; Challa Sundaram; Parayil Sankaran Bindu; Narayanappa Gayathri; Arun B. Taly; Kumarasamy Thangaraj
TAGS: dna, mitochondrial, mitochondria, mutation, optic atrophy, hereditary, leber, india
Invest. Ophthalmol. Vis. Sci.. 2017; 58(10):3923-3930. doi: https://doi.org/10.1167/iovs.16-20695

Includes: Supplemental Content

ARVO Annual Meeting Abstract September 2016

Phenome-wide association study (PheWAS) using glaucoma-related ocular quantitative traits supports WNT7B association with central corneal thickness

Baojian Fan; P Ferdina Marie Sharmila; N Soumittra; S Sripriya; David S Friedman; L Vijaya; Jonathan L Haines; R George; Janey L Wiggs

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):4831. doi:

ARVO Annual Meeting Abstract September 2016

Novel mutations in SLC24A1 leading to congenital stationary night blindness (CSNB)

Marion Neuille; Sivasankar Malaichamy; Maria Vadala; Ramya Sachidanandam; Tharigopala Arokiasamy; Jose Sahel; Parveen Sen; Isabelle S Audo; Nagasamy Soumittra; Christina Zeitz

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):658. doi:

ARVO Annual Meeting Abstract April 2014

Linkage and association analyses identify a vCDR locus on chromosome 14q32 in consanguineous pedigrees from South India

Ryan Wang; Baojian Fan; P. Ferdina Marie Sharmila; N. Soumittra; S. Sripriya; D. s. Friedman; L. Vijaya; Jonathan L Haines; Ronnie J George; Janey L Wiggs

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):3794. doi:

ARVO Annual Meeting Abstract April 2014

Genome-wide Linkage Analysis Using Large Consanguineous Pedigrees from South India Identifies New Loci for Ocular Quantitative Traits

Baojian Fan; P. Ferdina Marie Sharmila; N. Soumittra; S. Sripriya; David S Friedman; L. Vijaya; Jonathan L Haines; Ronnie J George; Janey L Wiggs

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):6406. doi:

ARVO Annual Meeting Abstract April 2014

Family-based Genome-wide Association Study in South Indian Consanguineous Pedigrees Identifies an Association between WNT7B and Central Corneal Thickness

Xueli Chen; Baojian Fan; P. Ferdina Marie Sharmila; N. Soumittra; S. Sripriya; D. s. Friedman; L. Vijaya; Jonathan Haines; Ronnie J George; Janey L Wiggs

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):6408. doi:

ARVO Annual Meeting Abstract June 2013

Family-based Genome-wide Association Study in South Indian Consanguineous Pedigrees confirms association between ZNF469 and central corneal thickness

Baojian Fan; N. Soumittra; Sarangapani Sripriya; David Friedman; Vijaya Lingam; Jonathan Haines; Ronnie George; Janey Wiggs

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):6209. doi:

Genetics June 2013

Haplogroup Heterogeneity of LHON Patients Carrying the m.14484T>C Mutation in India

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Nahid Akhtar Khan; Periyasamy Govindaraj; Nagasamy Soumittra; Sundaramoorthy Srilekha; Selvakumar Ambika; Ayyasamy Vanniarajan; Angamuthu K. Meena; Megha S. Uppin; Challa Sundaram; Arun B. Taly; Parayil Sankaran Bindu; Narayanappa Gayathri; Kumarasamy Thangaraj
TAGS: heterogeneity, india, mutation, optic atrophy, hereditary, leber, carrying, dna, mitochondrial
Invest. Ophthalmol. Vis. Sci.. 2013; 54(6):3999-4005. doi: https://doi.org/10.1167/iovs.13-11925

ARVO Annual Meeting Abstract April 2011

Association of Polymorphisms near ATOH7 with Optic Disc Area in Indian Consanguineous Pedigrees

Baojian Fan; P. Ferdina Marie Sharmila; N. Soumittra; S. Sripriya; J. Madhavan; David S. Friedman; L. Vijaya; Jonathan L. Haines; Ronnie J. George; Janey L. Wiggs

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):3303. doi:

Retina December 2009

CERKL Mutations Cause an Autosomal Recessive Cone-Rod Dystrophy with Inner Retinopathy

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Tomas S. Aleman; Nagasamy Soumittra; Artur V. Cideciyan; Alexander M. Sumaroka; Vedam Lakshmi Ramprasad; Waldo Herrera; Elizabeth A. M. Windsor; Sharon B. Schwartz; Robert C. Russell; Alejandro J. Roman; Chris F. Inglehearn; Govindasamy Kumaramanickavel; Edwin M. Stone; Gerald A. Fishman; Samuel G. Jacobson
TAGS: autosomal recessive inheritance, mutation, progressive cone-rod dystrophy, retina, retinal diseases, retinitis pigmentosa, retinal cone, rod photoreceptors, photoreceptors, electroretinography
Invest. Ophthalmol. Vis. Sci.. 2009; 50(12):5944-5954. doi: https://doi.org/10.1167/iovs.09-3982

ARVO Annual Meeting Abstract May 2008

Pseudoexfoliation Syndrome in India: Association of G135D Polymorphism in LOXL1 Gene

V. Ramprasad; R. George; N. Soumittra; F. Sharmila; L. Vijaya; G. Kumaramanickavel

Invest. Ophthalmol. Vis. Sci.. 2008; 49(13):1722. doi:

ARVO Annual Meeting Abstract May 2008

Homozygosity Mapping in Consanguineous Retinal Dystrophy Families: Identification of a Novel c.955G>A Splice Site Mutation in the Lebercilin Gene in Leber Congential Amaurosis

G. Kumaramanickavel; V. L. Ramprasad; N. Soumittra; D. Nancarrow; P. Sen; M. McKibbin; G. A. Williams; T. Arokiasamy; L. Praveena; C. F. Inglehearn

Invest. Ophthalmol. Vis. Sci.. 2008; 49(13):2979. doi:

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Genetic Correlation between Corneal Hysteresis and Vertical Cup-disc Ratio in South Indian Consanguineous Pedigrees

Family-based Genome-wide Association Study in South Indian Consanguineous Pedigrees Identifies an Association between LPHN3 and Vertical Cup-disc Ratio

Ocular phenome-wide association study (PheWAS) of glaucoma-associated genes identifies significant associations with ocular quantitative traits

Genetic Survey of the Primary Mitochondrial Mutations along with Clinical Correlation in suspected Leber Hereditary Optic Neuropathy (LHON) patients from an Indian Cohort

Family-Based Genome-Wide Association Study of South Indian Pedigrees Supports WNT7B as a Central Corneal Thickness Locus

Author Response: Penetrance of the LHON Mutation m.11778G>A May Depend on Factors Other Than Haplotype or Heteroplasmy Rate

Leber's Hereditary Optic Neuropathy–Specific Mutation m.11778G>A Exists on Diverse Mitochondrial Haplogroups in India

Phenome-wide association study (PheWAS) using glaucoma-related ocular quantitative traits supports WNT7B association with central corneal thickness

Novel mutations in SLC24A1 leading to congenital stationary night blindness (CSNB)

Linkage and association analyses identify a vCDR locus on chromosome 14q32 in consanguineous pedigrees from South India

Genome-wide Linkage Analysis Using Large Consanguineous Pedigrees from South India Identifies New Loci for Ocular Quantitative Traits

Family-based Genome-wide Association Study in South Indian Consanguineous Pedigrees Identifies an Association between WNT7B and Central Corneal Thickness

Family-based Genome-wide Association Study in South Indian Consanguineous Pedigrees confirms association between ZNF469 and central corneal thickness

Haplogroup Heterogeneity of LHON Patients Carrying the m.14484T>C Mutation in India

Association of Polymorphisms near ATOH7 with Optic Disc Area in Indian Consanguineous Pedigrees

CERKL Mutations Cause an Autosomal Recessive Cone-Rod Dystrophy with Inner Retinopathy

Pseudoexfoliation Syndrome in India: Association of G135D Polymorphism in LOXL1 Gene

Homozygosity Mapping in Consanguineous Retinal Dystrophy Families: Identification of a Novel c.955G>A Splice Site Mutation in the Lebercilin Gene in Leber Congential Amaurosis

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