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Faidon‐Nikolaos Tilemis

Observed names: F.‐N. Tilemis, Faidon-Nikolaos Tilemis, Tilemis, Faidon-Nikolaos, Φαίδων-Νικόλαος Τηλέμης
ORCID: 0000-0001-7600-214X
Observed ORCID: 0000-0001-7600-214X
OpenAlex ID: A5087936764
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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A novel pathogenic ATP6V1B2 variant: Widening the genotypic spectrum of the epileptic neurodevelopmental phenotype
2022 · Danai Veltra, Konstantina Kosma, et al. · American Journal of Medical Genetics Part A · 9
Alport Syndrome: Clinical Utility of Early Genetic Diagnosis in Children
2024 · Vasileia Christodoulaki, Konstantina Kosma, et al. · Genes · 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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Identification of a Novel IQCE Large Deletion through Copy Number Variant Analysis from Whole-Exome Sequencing Data of a Patient with Postaxial Polydactyly Type A7
2023 · Faidon-Nikolaos Tilemis, Nikolaos M. Marinakis, et al. · Molecular Syndromology · 6
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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
Motor phenotyping in a Greek cohort of patients with neonatal and infantile onset developmental and epileptic encephalopathy
2025 · Elissavet Kollia, Eleftheria Kokkinou, et al. · European Journal of Paediatric Neurology · 4
Hepatomegaly and fatty liver disease secondary to central hypothyroidism in combination with macrosomia as initial presentation of IGSF1 deficiency syndrome
2023 · Michaela Nikolaou, Ioannis-Anargyros Vasilakis, et al. · HORMONES · 3
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
A Novel SIL1 Variant (p.E342K) Associated with Marinesco–Sjögren Syndrome Impairs Protein Stability and Function
2025 · Anna Giulia Ruggieri, Nikolaos M. Marinakis, et al. · International Journal of Molecular Sciences · 1
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Insights into the heterogeneity of oculopharyngeal muscular dystrophy
2025 · Kyriaki Kekou, Constantinos Papadopoulos, et al. · Neurogenetics · 1
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Unraveling the Role of WDR91 : Case Report of a Previously Unrecognized Clinical Entity
2025 · Nikolaos M. Marinakis, Afrodite Kampouraki, et al. · Clinical Genetics · 1
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Clinical and Structural Characterization of a Novel TGFBI Mutation Linked to a Lattice Corneal Dystrophy Variant in a Greek Family
2025 · Margarita Zacharogianni, Nikos C. Papandreou, et al. · American Journal of Ophthalmology · 1
A Comprehensive Pipeline for the Use of Short Read Next-Generation Sequencing (SR-NGS) in CYP21A2 Diagnostic Genotyping
2026 · Irene Fylaktou, Faidon-Nikolaos Tilemis, et al. · Current Issues in Molecular Biology
Coexistence of a Novel OCRL Variant and a Pathogenic 16p11.2 Deletion in a Patient with Renal and Neurodevelopmental Manifestations Suggestive of Atypical Dent Disease Type 2—A Case Report
2026 · Christos Chronis, Charikleia Stefanaki, et al. · Journal of Clinical Medicine
IL-1R/IL-6R blockade for null NLRP12 variant-carrying Takayasu arteritis
2025 · Ourania D Argyropoulou, Nikolaos M Marinakis, et al. · Lara D. Veeken
Diagnostic genotyping of CYP21A2 gene employing Short Read-NGS: Benefits and Limitations
2025 · Irene Fylaktou, Faidon-Nikolaos Tilemis, et al. · Endocrine Abstracts
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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Η βελτιστοποίηση της διαγνωστικής απόδοσης της αλληλούχισης επόμενης γενιάς του DNA (Next Generation Sequencing/NGS) στην ιατρική γενετική, μέσω βιοπληροφορικών και εργαστηριακών διαδικασιών
2024 · Φαίδων-Νικόλαος Τηλέμης
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
Works count: 21
Citation count: 150
H-index: 6
I10-index: 2
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