Sofia A. Papadimitriou

Brussels, BRU 1090, Belgium

Last Updated: 09/26/2026

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Found 16 publications

Toward clinical exomes in diagnostics and management of male infertility.

Toward clinical exomes in diagnostics and management of male infertility.

Journal: American journal of human genetics

Published: December 21, 2023

Undiagnosed RASopathies in infertile men.

Undiagnosed RASopathies in infertile men.

Journal: Frontiers in endocrinology

Published: October 10, 2023

Prioritization of oligogenic variant combinations in whole exomes.

Prioritization of oligogenic variant combinations in whole exomes.

Journal: Bioinformatics (Oxford, England)

Published: July 13, 2023

Toward reporting standards for the pathogenicity of variant combinations involved in multilocus/oligogenic diseases.

Toward reporting standards for the pathogenicity of variant combinations involved in multilocus/oligogenic diseases.

Journal: HGG advances

Published: December 29, 2022

Faster and more accurate pathogenic combination predictions with VarCoPP2.0.

Faster and more accurate pathogenic combination predictions with VarCoPP2.0.

Journal: BMC bioinformatics

Published: December 06, 2022

Scaling up oligogenic diseases research with OLIDA: the Oligogenic Diseases Database.

Scaling up oligogenic diseases research with OLIDA: the Oligogenic Diseases Database.

Journal: Database : the journal of biological databases and curation

Published: December 17, 2021

6th European Student Council Symposium (ESCS): overcoming obstacles to enhance virtuality, connectivity, inclusivity and community engagement.

6th European Student Council Symposium (ESCS): overcoming obstacles to enhance virtuality, connectivity, inclusivity and community engagement.

Journal: F1000Research

Published: January 06, 2021

Global network of computational biology communities: ISCB's Regional Student Groups breaking barriers.

Global network of computational biology communities: ISCB's Regional Student Groups breaking barriers.

Journal: F1000Research

Published: August 26, 2019

Digenic inheritance of human primary microcephaly delineates centrosomal and non-centrosomal pathways.

Digenic inheritance of human primary microcephaly delineates centrosomal and non-centrosomal pathways.

Journal: Human mutation

Published: July 12, 2019

Predicting disease-causing variant combinations.

Predicting disease-causing variant combinations.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: May 26, 2019

ORVAL: a novel platform for the prediction and exploration of disease-causing oligogenic variant combinations.

ORVAL: a novel platform for the prediction and exploration of disease-causing oligogenic variant combinations.

Journal: Nucleic acids research

Published: February 21, 2019

Using game theory and decision decomposition to effectively discern and characterise bi-locus diseases.

Using game theory and decision decomposition to effectively discern and characterise bi-locus diseases.

Journal: Artificial intelligence in medicine

Published: September 11, 2018

Showing 1-12 of 16

Last Updated: 09/26/2026