Concepedia

Smaragda Kamakari

SK

16

Publications

617

Citations

14

H-Index

1992

Active since

Affiliations

National and Kapodistrian University of Athens(Current)

Newcastle University

Radboud University Medical Center

Radboud University Nijmegen

University of Cape Town

Smaragda Kamakari is an author at National and Kapodistrian University of Athens specializing in medicine, genetics, and pathology.

ORCID

Top concepts

Publications per year

1992–2025

16

Publications

16

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

Mubeen Khan, Stéphanie S. Cornelis, Marta Del Pozo‐Valero et al. · Genetics in Medicine · 2020 · 139 citations · Full text

, , +11

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

Maria Bozi, Dimitra Papadimitriou, Roubina Antonellou et al. · European Journal of Neurology · 2013 · 65 citations

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

Yi Shiau Ng, Nichola Z. Lax, Paul Maddison et al. · EBioMedicine · 2018 · 65 citations · Full text

X chromosome linkage studies in familial Rett syndrome

A Curtis, Sophie Headland, Susan Lindsay et al. · Human Genetics · 1993 · 44 citations

, , +6

Association of Sex With Frequent and Mild <i>ABCA4</i> Alleles in Stargardt Disease

Esmee H. Runhart, Mubeen Khan, Stéphanie S. Cornelis et al. · JAMA Ophthalmology · 2020 · 44 citations · Full text

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