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Maria Svingou

Observed names: M. Svingou, Svingou, Maria, Μαρία Σβίγγου
ORCID: 0000-0003-3681-0825
Observed ORCID: 0000-0003-3681-0825
OpenAlex ID: A5036368665
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
2021 · Nikolaos M. Marinakis, Maria Svingou, et al. · American Journal of Medical Genetics Part A · 53
Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic Diseases
2023 · Faidon-Nikolaos Tilemis, Nikolaos M. Marinakis, et al. · Genes · 51
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Evaluation of Genotypes and Epidemiology of Spinal Muscular Atrophy in Greece: A Nationwide Study Spanning 24 Years
2020 · Kyriaki Kekou, Maria Svingou, et al. · Journal of Neuromuscular Diseases · 22
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Aldolase A deficiency: Report of new cases and literature review
2021 · C. Papadopoulos, M. Svingou, et al. · Molecular Genetics and Metabolism Reports · 14
A dynamic trinucleotide repeat (TNR) expansion in the DMD gene
2016 · Kyriaki Kekou, Christalena Sofocleous, et al. · Molecular and Cellular Probes · 12
Single amino acid loss in the dystrophin protein associated with a mild clinical phenotype
2016 · Roser Pons, Kyriaki Kekou, et al. · Muscle & Nerve · 7
Estimating at-risk couple rates across 1000 exome sequencing data cohort for 176 genes and its importance relevance for health policies
2024 · Nikolaos M. Marinakis, Faidon-Nikolaos Tilemis, et al. · European Journal of Human Genetics · 6
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A novel homozygous ALPK3 variant associated with cardiomyopathy and skeletal muscle involvement
2021 · Constantinos Papadopoulos, Kiriaki Kekou, et al. · Muscle & Nerve · 6
Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms
2023 · Danai Veltra, Faidon-Nikolaos Tilemis, et al. · Expert Review of Molecular Diagnostics · 5
Retrospective analysis of persistent HyperCKemia with or without muscle weakness in a case series from Greece highlights vast DMD variant heterogeneity
2023 · Kyriaki Kekou, Maria Svingou, et al. · Expert Review of Molecular Diagnostics · 2
Orofacial Muscle Weakening in Facioscapulohumeral Muscular Dystrophy (FSHD) Patients
2022 · Dimitrios Konstantonis, Kyriaki Kekou, et al. · Children · 2
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Analysis of a founder mutation in the TH gene in a cohort of greek patients with Parkinson's disease
2016 · Roser Pons, Kyriaki Kekou, et al. · Movement Disorders · 2
Insights into the heterogeneity of oculopharyngeal muscular dystrophy
2025 · Kyriaki Kekou, Constantinos Papadopoulos, et al. · Neurogenetics · 1
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Myotonia congenita in a Greek cohort: Genotype spectrum and impact of the CLCN1 :c. 501C > G variant as a genetic modifier
2024 · Nikolaos M. Marinakis, Maria Svingou, et al. · Muscle & Nerve · 1
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Cardiomyopathy in an Adolescent with McLeod Syndrome: Searching Beyond the Routine Assessment
2026 · Sophie I. Mavrogeni, Kyriaki Kekou, et al. · Advances in experimental medicine and biology
Nablus mask‐like facial syndrome: Report of an atypical case with 8q21.3–q22.1 deletion
2024 · A. Mitrakos, K. Kekou, et al. · American Journal of Medical Genetics Part A
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Retrospective analysis of persistent HyperCKemia with or without muscle weakness in a case series from Greece highlights vast DMD variant heterogeneity
2023 · Kekou, Kyriaki, Svingou, Maria, et al. · Figshare
Γενωμική διερεύνηση μη ταυτοποιημένων μυοπαθειών
2022 · Μαρία Σβίγγου
Congenital Myasthenic Syndromes: an Overview of the Clinical Presentation, Diagnosis and Treatment
2022 · Veltsista, Dimitra, Kefalopoulou, Zinovia, et al. · ΑΡΧΕΙΑ ΚΛΙΝΙΚΗΣ ΝΕΥΡΟΛΟΓΙΑΣ
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EP.20ANO5-related myopathy: report of the first Greek patients
2019 · M. Svingou, K. Kekou, et al. · Neuromuscular Disorders
Works count: 21
Citation count: 184
H-index: 6
I10-index: 5
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