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Meeting Abstract (8)
Journal Articles (2)

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Investigative Ophthalmology & Visual Science (10)

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ARVO Annual Meeting Abstract (8)
Genetics (1)
Retina (1)

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Genetics (2)
Retina (2)
Eye Anatomy and Disorders (1)

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genes (2)
cohort studies (1)
electrophysiology (1)
family (1)
haplotypes (1)
mutation (1)
phenotype (1)
prevalence (1)
proteins (1)
retinitis pigmentosa (1)

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ARVO Annual Meeting Abstract September 2016

Retinopathy and optic atrophy: expanding phenotypic spectrum of AARS2 gene mutations

Jason H Peragallo; Stephanie Keller; Kristen Cornell; Marjo S van der Knaap; Bruno Soares; Suma P Shankar

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):647.

ARVO Annual Meeting Abstract September 2016

Phenotype Based Targeted Next Generation Sequencing Complemented with Microarray Analysis has high yield in Clinical Genetic Testing of Inherited Eye Disorders

Suma P Shankar; Jiong Yan; Sarah Richards; Brian Bunke; Madhuri Hegde; John Alexander

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3159.

Genetics February 2016

Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in PRPH2 and Protein Haplotypes in trans as Modifiers

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Suma P. Shankar; Dianna K. Hughbanks-Wheaton; David G. Birch; Lori S. Sullivan; Karen N. Conneely; Sara J. Bowne; Edwin M. Stone; Stephen P. Daiger
TAGS: genes, haplotypes, phenotype, proteins, visual fields, visual acuity, electrophysiology
Invest. Ophthalmol. Vis. Sci.. 2016; 57(2):349-359. https://doi.org/10.1167/iovs.15-16965

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2015

Retinal Findings in a Family with Spinocerebellar Ataxia Type 7

Joshua Levinson; Suma P Shankar; Scott R Lambert; Jiong Yan

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):3836.

ARVO Annual Meeting Abstract April 2014

Next-generation Sequencing Panel for Molecular Diagnosis in the Eye Clinic -Identification of Novel Mutations and the Saga of Variants of Unknown Significance

Suma P Shankar; Jiong Yan; Scott R Lambert; Amy K Hutchinson; Phoebe Lenhart; Vincent Thomas Ciavatta; Madhuri Hegde

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):6391.

ARVO Annual Meeting Abstract May 2007

Novel FRMD7 Mutation Is Associated With X-Linked Idiopathic Congenital Nystagmus in a Large Pedigree From Iowa

S. P. Shankar; J. F. Fingert; M. E. Eyestone; H. T. Daggett; V. C. Sheffield; R. V. Keech; E. M. Stone

Invest. Ophthalmol. Vis. Sci.. 2007; 48(13):1323.

ARVO Annual Meeting Abstract May 2007

Identification of a Novel Genetic Locus for Familial Cavitary Optic Disc Anomalies

J. H. Fingert; R. A. Honkanen; S. P. Shankar; M. A. Ehlinger; L. M. Affatigato; L. M. Jampol; T. E. Scheetz; V. C. Sheffield; E. M. Stone; W. L. M. Alward

Invest. Ophthalmol. Vis. Sci.. 2007; 48(13):4038.

ARVO Annual Meeting Abstract May 2007

Does the Complement Factor H (CFH) Tyr402His Polymorphism Affect the Retinal Phenotype of a Clinically Variable RDS Mutation?

C. J. Spellicy; S. P. Shankar; L. S. Sullivan; S. J. Bowne; E. M. Stone; D. G. Birch; S. P. Daiger

Invest. Ophthalmol. Vis. Sci.. 2007; 48(13):4632.

Retina July 2006

Prevalence of Disease-Causing Mutations in Families with Autosomal Dominant Retinitis Pigmentosa: A Screen of Known Genes in 200 Families

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Lori S. Sullivan; Sara J. Bowne; David G. Birch; Dianna Hughbanks-Wheaton; John R. Heckenlively; Richard Alan Lewis; Charles A. Garcia; Richard S. Ruiz; Susan H. Blanton; Hope Northrup; Anisa I. Gire; Robyn Seaman; Hatice Duzkale; Catherine J. Spellicy; Jingya Zhu; Suma P. Shankar; Stephen P. Daiger
TAGS: family, genes, mutation, retinitis pigmentosa, prevalence, cohort studies
Invest. Ophthalmol. Vis. Sci.. 2006; 47(7):3052-3064. https://doi.org/10.1167/iovs.05-1443

Includes: Supplemental Content

ARVO Annual Meeting Abstract December 2002

Identification of a Novel OPA1 Mutation in a Large Family With a Severe Dominant Optic Atrophy Phenotype

JH Fingert; LM Affatigato; JL Secrist; SP Shankar; VC Sheffield; EM Stone

Invest. Ophthalmol. Vis. Sci.. 2002; 43(13):2397.

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Journal of Vision
Translational Vision Science & Technology

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