Smaragda Kamakari

Athens, ESYE31, Greece

Last Updated: 09/26/2026

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Found 12 publications

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.

Journal: Nature genetics

Published: June 02, 2025

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

Journal: medRxiv : the preprint server for health sciences

Published: January 20, 2025

Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.

Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.

Journal: Biomolecules

Published: January 29, 2024

Wolfram Syndrome: A case report of two sisters Wolfram Syndrome: Case report of two sisters.

Wolfram Syndrome: A case report of two sisters Wolfram Syndrome: Case report of two sisters.

Journal: American journal of ophthalmology case reports

Published: September 25, 2020

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: November 26, 2019

Corrigendum to "Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles".

Corrigendum to "Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles".

Journal: Journal of ophthalmology

Published: August 19, 2018

MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load.

MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load.

Journal: EBioMedicine

Published: January 09, 2018

Case series: Pyramidal cataracts, intact irides and nystagmus from three novel PAX6 mutations.

Case series: Pyramidal cataracts, intact irides and nystagmus from three novel PAX6 mutations.

Journal: American journal of ophthalmology case reports

Published: August 23, 2017

X-linked adrenoleukodystrophy: are signs of hypogonadism always due to testicular failure?

X-linked adrenoleukodystrophy: are signs of hypogonadism always due to testicular failure?

Journal: Hormones (Athens, Greece)

Published: April 12, 2014

First report of OPA1 screening in Greek patients with autosomal dominant optic atrophy and identification of a previously undescribed OPA1 mutation.

First report of OPA1 screening in Greek patients with autosomal dominant optic atrophy and identification of a previously undescribed OPA1 mutation.

Journal: Molecular vision

Published: January 20, 2014

Genetic assessment of familial and early-onset Parkinson's disease in a Greek population.

Genetic assessment of familial and early-onset Parkinson's disease in a Greek population.

Journal: European journal of neurology

Published: June 17, 2013

Novel mutations of the HRAS gene and absence of hotspot mutations of the BRAF genes in oral squamous cell carcinoma in a Greek population.

Novel mutations of the HRAS gene and absence of hotspot mutations of the BRAF genes in oral squamous cell carcinoma in a Greek population.

Journal: Oncology reports

Published: December 01, 2011

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Last Updated: 09/26/2026