Author

Nikolaos M. Marinakis

Democritus University of ThraceORCID 0000-0002-7078-3253Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:gene regulatory network inference· 2 Approach:benchmark study· 1 Research Focus:benchmarking· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Assay:GWAS summary statistics· 1 Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Aaron T. OdelliD· 1 shared Andrea AccogliiD· 1 shared Andrew T. Powell· 1 shared Boris KereniD· 1 shared Candace MussiD· 1 shared Chris MungalliD· 1 shared Christalena SofocleousiD· 1 shared Damian P. SmedleyiD· 1 shared

Activity by Year

2025-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 20 mutual co-author links

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1 shared paperBioinformatics

Aaron T. OdellORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedAug 29, 2025

Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling

Kimberly A. Chapman, Farid Ullah, Zachary A Yahiku…·Martha R. C. Bhattacharya

The paper identifies pathogenic TMEM184B variants in six pediatric cases and shows they disrupt metabolic signaling and neural development through functional studies in zebrafish and human cells.

2 citations

humanzebrafish

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BioinformaticsBMC BioinformaticsPeer-reviewedMar 22, 2025

Towards a standard benchmark for phenotype-driven variant and gene prioritisation algorithms: PhEval - Phenotypic inference Evaluation framework

Yasemin Bridges, Vinícius de Souza, Katherina G Cortes…·Julius O.B. Jacobsen

PhEval provides a standardized framework to benchmark phenotype-driven variant and gene prioritisation algorithms using real-world patient data and controlled test corpora.

9 citationstop 4%

GWAS summary statisticsbenchmark study

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