Concepedia

Maria Svingou

MS

5

Publications

130

Citations

5

H-Index

2016

Active since

Affiliations

National and Kapodistrian University of Athens(Current)

The General Hospital of Heraklion "Venizeleio-Pananio"

Eginition Hospital

Children's Hospital Agia Sophia

Maria Svingou is an author at National and Kapodistrian University of Athens specializing in genetics, pathology, and bioinformatics.

ORCID

Top concepts

Publications per year

2016–2023

5

Publications

5

Phenotype‐driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders

Nikolaos M. Marinakis, Maria Svingou, Danai Veltra et al. · American Journal of Medical Genetics Part A · 2021 · 47 citations

Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic Diseases

Faidon‐Nikolaos Tilemis, Nikolaos M. Marinakis, Danai Veltra et al. · Genes · 2023 · 41 citations · Full text

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Evaluation of Genotypes and Epidemiology of Spinal Muscular Atrophy in Greece: A Nationwide Study Spanning 24 Years

Kyriaki Kekou, Maria Svingou, Christalena Sofocleous et al. · Journal of Neuromuscular Diseases · 2020 · 18 citations · Full text

A dynamic trinucleotide repeat (TNR) expansion in the DMD gene

Kyriaki Kekou, Christalena Sofocleous, George K. Papadimas et al. · Molecular and Cellular Probes · 2016 · 12 citations

Aldolase A deficiency: Report of new cases and literature review

Constantinos Papadopoulos, Maria Svingou, Kyriaki Kekou et al. · Molecular Genetics and Metabolism Reports · 2021 · 12 citations · Full text

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