Marielle E. Van Gijn
Amsterdam, NH, Netherlands
Last Updated: 09/26/2026
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Found 69 publications
In-depth human phenotype ontology curation boosts prioritization performance for Netherton syndrome (SPINK5-syndromic epidermal differentiation disorder).
Journal: The British journal of dermatology
Published: March 31, 2026
A multidisciplinary RNA-guided approach to complement genomic analysis of unsolved patients with an inborn error of immunity.
Journal: Frontiers in immunology
Published: March 13, 2026
Second-tier genetics improves newborn screening accuracy for SCID and other T cell deficiencies.
Journal: Journal of human immunity
Published: February 26, 2026
Nanopore sequencing enables combined detection of USP7 variants and a known Hao-Fountain syndrome episignature.
Journal: Frontiers in genetics
Published: October 22, 2025
Managing non-SCID T cell lymphopenia after TREC-based newborn screening.
Journal: Journal of human immunity
Published: September 23, 2025
Accelerating rare disease diagnostics by linking DNA and RNA through an explainable and interactive RNA-guided workflow.
Journal: NAR genomics and bioinformatics
Published: June 18, 2025
Proceedings of the second Artificial Intelligence in Primary Immunodeficiency (AIPI) meeting.
Journal: The Journal of allergy and clinical immunology
Published: April 21, 2025
MOLGENIS VIP: an end-to-end DNA variant interpretation pipeline for research and diagnostics configurable to support rapid implementation of new methods.
Journal: NAR genomics and bioinformatics
Published: January 30, 2025
The burden of TTN variants in the genomic era: analysis of 18,462 individuals from the Solve-RD consortium and general recommendations.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 17, 2024
The burden of TTN variants in the genomic era: Analysis of 18,462 individuals from the Solve-RD consortium and general recommendations.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 17, 2024
AI-Inclusivity in Healthcare: Motivating an Institutional Epistemic Trust Perspective.
Journal: Cambridge quarterly of healthcare ethics : CQ : the international journal of healthcare ethics committees
Published: April 29, 2024
Serum proteomics reveals hemophagocytic lymphohistiocytosis-like phenotype in a subset of patients with multisystem inflammatory syndrome in children.
Journal: Clinical immunology (Orlando, Fla.)
Published: April 26, 2024
Last Updated: 09/26/2026