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Journal of Medical Genetics|August 20, 2025
Resolving structural variations missed by short-read sequencing uncovers their pathogenicityCaroline Schluth-Bolard, Laïla El Khattabi, Pierre-Antoine Rollat-Farnier, et al.
The Journal of Pathology|June 18, 2026
Tumor Invasive Border Index (TIBI) in colorectal cancer: linking infiltrative morphology to molecular insightsAkseli Kehusmaa, Jouni Härkönen, Huayi Li, et al.
American Journal of Human Genetics|March 19, 2024
Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndromeCaspar I van der Made, Simone Kersten, Odelia Chorin, et al.
JAMA|July 25, 2020
Presence of Genetic Variants Among Young Men With Severe COVID-19Caspar I van der Made, Annet Simons, Janneke Schuurs-Hoeijmakers, et al.
Clinical Immunology (Orlando, Fla.)|October 6, 2024
Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysisEmil E Vorsteveld, Caspar I Van der Made, Sanne P Smeekens, et al.
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