Nikolaos M Marinakis
13PUBLICATIONS
64CO-AUTHORS
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Publications (13)
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|Dec 11, 2025
A Novel SIL1 Variant (p.E342K) Associated with Marinesco-Sjögren Syndrome Impairs Protein Stability and Function.Anna Giulia Ruggieri, Nikolaos M Marinakis, Laura Amodei
|Jun 23, 2025
Unraveling the Role of WDR91: Case Report of a Previously Unrecognized Clinical Entity.Nikolaos M Marinakis, Afrodite Kampouraki, Danai Veltra
|Nov 03, 2024
Estimating at-risk couple rates across 1000 exome sequencing data cohort for 176 genes and its importance relevance for health policies.Nikolaos M Marinakis, Faidon-Nikolaos Tilemis, Danai Veltra
|Aug 29, 2024
Alport Syndrome: Clinical Utility of Early Genetic Diagnosis in Children.Vasileia Christodoulaki, Konstantina Kosma, Nikolaos M Marinakis
|Jun 27, 2024
Lethal Complications and Complex Genotypes in Shwachman Diamond Syndrome: Report of a Family with Recurrent Neonatal Deaths and a Case-Based Brief Review of the Literature.Danai Veltra, Nikolaos M Marinakis, Ioannis Kotsios
|Jun 25, 2024
Towards a standard benchmark for phenotype-driven variant and gene prioritisation algorithms: PhEval - Phenotypic inference Evaluation framework.Yasemin Bridges, Vinicius de Souza, Katherina G Cortes
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Frequent Collaborators
8 joint publications
Joanne Traeger-Synodinos
7 joint publications
Danai Veltra
7 joint publications
Christalena Sofocleous
4 joint publications
Kyriaki Kekou
2 joint publications
Maria Tzetis
2 joint publications
Dana E Layo-Carris
2 joint publications
Emily E Lubin
2 joint publications
Annabel K Sangree
2 joint publications
Rajesh Angireddy
2 joint publications
Roberto Mendoza-Londono
