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Georgia Pepe

Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations
2019 · Georgios N. Tsaousis, Eirini Papadopoulou, et al. · BMC Cancer · 154
The evolution of comprehensive genetic analysis in neurology: Implications for precision medicine
2023 · Eirini Papadopoulou, Georgia Pepe, et al. · Journal of the Neurological Sciences · 22
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Comprehensive BRCA mutation analysis in the Greek population. Experience from a single clinical diagnostic center
2017 · Angela Apessos, Konstantinos Agiannitopoulos, et al. · Cancer Genetics · 20
Copy Number Variations (CNVs) Account for 10.8% of Pathogenic Variants in Patients Referred for Hereditary Cancer Testing
2023 · KONSTANTINOS AGIANNITOPOULOS, GEORGIA PEPE, et al. · Cancer Genomics & Proteomics · 18
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Only 32.3% of Breast Cancer Families with Pathogenic Variants in Cancer Genes Utilized Cascade Genetic Testing
2023 · Konstantinos Agiannitopoulos, Kevisa Potska, et al. · Cancers · 15
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The Clinical and Genetic Landscape of Hereditary Cancer: Experience from a Single Clinical Diagnostic Laboratory
2024 · NIKOLAOS TSOULOS, KONSTANTINOS AGIANNITOPOULOS, et al. · Cancer Genomics & Proteomics · 12
Clinical Utility of Functional RNA Analysis for the Reclassification of Splicing Gene Variants in Hereditary Cancer
2021 · KONSTANTINOS AGIANNITOPOULOS, GEORGIA PEPE, et al. · Cancer Genomics & Proteomics · 12
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Revisiting the Implications of Positive Germline Testing Results Using Multi-gene Panels in Breast Cancer Patients
2021 · GEORGIOS N. TSAOUSIS, EIRINI PAPADOPOULOU, et al. · Cancer Genomics & Proteomics · 11
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Characterization of the c.793-1G > A splicing variant in CHEK2 gene as pathogenic: a case report
2019 · Konstantinos Agiannitopoulos, Eirini Papadopoulou, et al. · BMC Medical Genetics · 7
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Molecular predictive markers in tumors of the gastrointestinal tract
2016 · Eirini Papadopoulou, Vasiliki Metaxa-Mariatou, et al. · World Journal of Gastrointestinal Oncology · 7
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Early-Onset Parkinson’s Disease in a Patient With a De Novo Frameshift Variant of the ANKRD11 Gene and KBG Syndrome
2025 · Maria-Ioanna Stefanou, Vasileios K. Katsaros, et al. · Journal of Clinical Neurology · 4
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Genetic Predisposition to Male Breast Cancer: A Case Series
2022 · ANGELA APESSOS, KONSTANTINOS AGIANNITOPOULOS, et al. · Anticancer Research · 4
Rare Case with Pathogenic Variant in DHX16 Gene Causing Neuromuscular Disease and Oculomotor Anomalies
2025 · Stefania Kalampokini, Dimitrios G. Goulis, et al. · International Journal of Molecular Sciences · 3
Importance of multigene panel test in patients with consanguineous marriage and family history of breast cancer
2022 · Vahit Ozmen, Ahmet Caglayan, et al. · Oncology Letters · 2
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Report of a germline double heterozygote in MSH2 and PALB2
2020 · Konstantinos Agiannitopoulos, Eirini Papadopoulou, et al. · Molecular Genetics & Genomic Medicine · 2
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Epilepsy characteristics in patients with muscle‐eye‐brain disease: A systematic review of electroclinical features
2026 · Stefania Kalampokini, Evripidis Pityrigkas, et al. · Epileptic Disorders · 1
Trigeminal neuralgia, demyelinating polyneuropathy, and central nervous system involvement in a patient with an SH3TC2 mutation
2024 · Alexandros Giannakis, Gkirai Chamko, et al. · Laboratory Medicine · 1
KBG syndrome: A scoping review of electroclinical features of patients with epilepsy
2026 · Stefania Kalampokini, Evripidis Pityrigkas, et al. · Epileptic Disorders
Expanding the Genotypic Spectrum of POMGNT1‐Related Muscle‐Eye‐Brain Disease: A Case Report
2026 · Evripidis Pityrigkas, Vasiliki Poulidou, et al. · Molecular Genetics & Genomic Medicine
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EP1723 - LBA_ECE_1257 - Vanishing Testes Syndrome (VTS): emerging insights from a pediatric case series
2026 · Vasiliki Siampanopoulou, Sofia Lekka, et al. · European Journal of Endocrinology
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A novel compound heterozygosity in AAAS gene in two Greek siblings: expanding the genotypic landscape of Allgrove syndrome
2026 · Vasileios Siokas, Maria Sokratous, et al. · Neurogenetics
Charcot-Marie-tooth disease type 1 phenotype in a family with a novel myelin protein zero variant
2025 · Maria Moschou, Vasiliki Poulidou, et al. · Journal of the Neurological Sciences
Abstract P2-09-10: Different CNVs account for 10.4% of pathogenic variants in 1418 patients referred for hereditary breast cancer testing
2022 · Nikolaos Tsoulos, Konstantinos Agiannitopoulos, et al. · Cancer Research
Multigene panel testing results for hereditary breast cancer in 1325 individuals: Implications for gene selection and considerations for guidelines
2019 · G.N. Tsaousis, N. Tsoulos, et al. · Annals of Oncology
Abstract P4-03-07: Analysis of hereditary cancer syndromes by using a panel of genes: Novel and multiple pathogenic mutations
2019 · N Tsoulos, GN Tsaousis, et al. · Cancer Research
Works count: 29
Citation count: 295
H-index: 8
I10-index: 8
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