Alexander Hoischen
Nijmegen, GE, Netherlands
Last Updated: 09/26/2026
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Found 237 publications
Clinical Long-Read Genome Sequencing for Rare-Disease Diagnostics.
Journal: The New England journal of medicine
Published: June 15, 2026
A 5' UTR CCG expansion in TBC1D7 causes oculopharyngodistal myopathy.
Journal: medRxiv : the preprint server for health sciences
Published: April 10, 2026
Publisher Correction: Long-read technologies identify a hidden LINE-1/ERV1 insertion in IQCB1 as causative variant for Senior-Løken syndrome.
Journal: NPJ genomic medicine
Published: March 25, 2026
Distinct mechanisms of CNV formation at the human 15q13.3 locus.
Journal: bioRxiv : the preprint server for biology
Published: March 23, 2026
Near-perfect genome sequencing in medical genetics.
Journal: Nature genetics
Published: February 04, 2026
Author Correction: The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.
Journal: Nature genetics
Published: January 06, 2026
HiFi sequencing accurately identifies clinically relevant variants in paralogous genes.
Journal: American journal of human genetics
Published: December 22, 2025
Transcription-based identification of uncharacterized genes in the human immune response.
Journal: European journal of human genetics : EJHG
Published: November 20, 2025
Monoallelic PSMB8 variants cause PRAAS with immunodeficiency through impaired immunoproteasome assembly.
Journal: American journal of human genetics
Published: October 13, 2025
Complexome profiling showed impaired immunoproteasome assembly in a novel PRAAS subtype caused by monoallelic PSMB8 variants.
Journal: medRxiv : the preprint server for health sciences
Published: July 16, 2025
Optical Genome Mapping for the Identification of Complex Structural Variants in Hereditary Angioedema.
Journal: Journal of clinical immunology
Published: June 27, 2025
Last Updated: 09/26/2026