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Sharola Dharmaraj

Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis
2007 · Anneke I den Hollander, Robert K Koenekoop, et al. · Nature Genetics · 200
Extreme hyperopia is the result of null mutations in MFRP , which encodes a Frizzled-related protein
2005 · Olof H. Sundin, Gregory S. Leppert, et al. · Proceedings of the National Academy of Sciences · 191
Genotyping Microarray (Disease Chip) for Leber Congenital Amaurosis: Detection of Modifier Alleles
2005 · Jana Zernant, Maigi Ku¨lm, et al. · Investigative Ophthalmology & Visual Science · 171
Prevalence of AIPL1 Mutations in Inherited Retinal Degenerative Disease
2000 · Melanie M. Sohocki, Isabelle Perrault, et al. · Molecular Genetics and Metabolism · 161
Mutational analysis and clinical correlation in Leber congenital amaurosis
2000 · Sharola Dharmaraj, Eduardo Silva, et al. · Ophthalmic Genetics · 119
The Phenotype of Leber Congenital Amaurosis in Patients With AIPL1 Mutations
2004 · Sharola Dharmaraj · Archives of Ophthalmology · 113
Developmental Basis of Nanophthalmos: MFRP Is Required for both Prenatal Ocular Growth and Postnatal Emmetropization
2008 · Olof H. Sundin, Sharola Dharmaraj, et al. · Ophthalmic Genetics · 84
A Novel Locus for Leber Congenital Amaurosis Maps to Chromosome 6q
2000 · Sharola Dharmaraj, Yingying Li, et al. · The American Journal of Human Genetics · 83
Docosahexaenoic acid therapy in peroxisomal diseases
2010 · A.M. Paker, J.S. Sunness, et al. · Neurology · 70
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A CRX null mutation is associated with both Leber congenital amaurosis and a normal ocular phenotype.
2000 · E Silva, J M Yang, et al. · PubMed · 58
Functional analyses of mutant recessive GUCY2D alleles identified in Leber congenital amaurosis patients: protein domain comparisons and dominant negative effects.
2004 · Chandra L Tucker, Visvanathan Ramamurthy, et al. · PubMed · 43
A G1103R Mutation inCRB1is Co-Inherited with High Hyperopia and Leber Congenital Amaurosis
2006 · H. Abouzeid, Y. Li, et al. · Ophthalmic Genetics · 30
A missense mutation in GUCY2D acts as a genetic modifier in RPE65 -related Leber Congenital Amaurosis
2004 · Eduardo Silva, Sharola Dharmaraj, et al. · Ophthalmic Genetics · 23
Controversies of Implanting Intraocular Lenses in Infancy
2005 · Sharola Dharmaraj, Natalie Azar · International Ophthalmology Clinics · 7
Multiallelic Inheritance And/or Modifier Alleles in Leber Congenital Amaurosis: Analysis With the Lca Disease Chip
2004 · Rando Allikmets, Jana Zernant, et al. · Investigative Ophthalmology & Visual Science · 2
Monogenic inheritance of Leber congenital amaurosis: causation by a novel mutation in CRB1.
2004 · Hana Abouzeid, Y. Li, et al. · Investigative Ophthalmology & Visual Science · 1
Retinal Neuronal Ectopia: a New Entity in the Differential Diagnosis of Retinoblastoma.
2022 · Maria Tsimpida, Sharola Dharmaraj, et al. · PubMed
Gene Therapy for Inherited Retinal Disease
2021 · Sharola Dharmaraj · Springer eBooks
Retinal Neuronal Ectopia: a New Entity in the Differential Diagnosis of Retinoblastoma
2019 · Maria Tsimpida, Sharola Dharmaraj, et al. · Retinal Cases & Brief Reports
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Leber Congenital Amaurosis in Asia
2018 · Sharola Dharmaraj, Anshuman Verma, et al. · Essentials in ophthalmology/Essentials ophthalmology
Clinical and molecular analysis of leber congenital amaurosis.
2007 · Sharola Dharmaraj · Radboud Repository (Radboud University)
Spontaneous Corneal Rupture Resulting from Central Corneal Defect in Infants – a New (Clinicopathological) Phenotype in Anterior Segment Dysgenesis?
2007 · DJ Fowler, DM Gore, et al. · UCL Discovery (University College London)
Paediatric primary orbital rhabdomyosarcomas - Subtype analysis
2006 · DJ Fowler, Sharola Dharmaraj, et al. · UCL Discovery (University College London)
Adjustable Sutures In The Correction Of Dysthyroid Vertical Deviation
2006 · Sharola Dharmaraj, C. Mocan, et al. · Investigative Ophthalmology & Visual Science
Genetic Basis of Extreme Hyperopia
2006 · Olof Sundin, Imran Ahmed Bhutto, et al. · Investigative Ophthalmology & Visual Science
Works count: 31
Citation count: 1,357
H-index: 13
I10-index: 13
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