Marielle van Gijn

9PUBLICATIONS
228CO-AUTHORS
Medical biotechnology diagnostics (incl. biosensors)Deep learningNeonatologyGene expression (incl. microarray and other genome-wide approaches)Genomics and transcriptomics
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Publications (9)

|Jul 17, 2026
Second-tier genetics improves newborn screening accuracy for SCID and other T cell deficiencies.

|Jun 16, 2026
In-depth Human Phenotype Ontology Curation Boosts Prioritization Performance for Netherton Syndrome.

|May 22, 2026
Managing non-SCID T cell lymphopenia after TREC-based newborn screening.

|Feb 13, 2026
Accelerating rare disease diagnostics by linking DNA and RNA through an explainable and interactive RNA-guided workflow.

Willem T K Maassen, Charlotte C E T Pape, Carlos G Urzua-Traslavina

|Mar 14, 2024
Systematic reanalysis of genomic data by diagnostic laboratories: a scoping review of ethical, economic, legal and (psycho)social implications.

Marije A van der Geest, Els L M Maeckelberghe, Marielle E van Gijn

|Nov 12, 2023
The Human Phenotype Ontology in 2024: phenotypes around the world.

Michael A Gargano, Nicolas Matentzoglu, Ben Coleman

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Frequent Collaborators

2 joint publications

Robbert G M Bredius

2 joint publications

Els Voorhoeve

2 joint publications

Taco W Kuijpers

2 joint publications

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