Publication & Citation Trends
Publications
0 total
Mutational Landscape of Colorectal Tumors From Individuals With Unexplained Adenomatous or Serrated Colorectal Polyposis.
Cited by 1
Semantic Scholar
Author Correction: The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease
Cited by 0
Semantic Scholar
Optical Genome Mapping for the Identification of Complex Structural Variants in Hereditary Angioedema
Cited by 0
Semantic Scholar
The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease
Cited by 2
Semantic Scholar
Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing
Cited by 13
Semantic Scholar
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses
Cited by 6
Semantic Scholar
63P Identifying the disease-causing variant in a large family, with a late-onset dominant distal myopathy
Cited by 0
Semantic Scholar
Research Topics
Genomics and Rare Diseases
(24)
Genomic variations and chromosomal abnormalities
(13)
Cancer Genomics and Diagnostics
(12)
Genetics and Neurodevelopmental Disorders
(6)
Genomics and Phylogenetic Studies
(5)
Affiliations
Radboud University Nijmegen
University of Leicester
University Medical Center
Radboud University Medical Center
Radboud Institute for Molecular Life Sciences