Erik‐Jan Kamsteeg

机构：Radboud University Nijmegen, University Medical Center, Radboud University Medical Center, Radboud Institute for Molecular Life Sciences · ORCID：0000-0001-6480-1892

发表论文 239 篇 · 总被引 9405 次 · h-index 50

代表论文

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses (2025 · Nature Medicine · 被引 58)
Genome sequencing as a generic diagnostic strategy for rare disease (2024 · Genome Medicine · 被引 48)
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy (2024 · Nature Genetics · 被引 36)
Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation (2023 · Nature Communications · 被引 30)
Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples (2023 · European Journal of Human Genetics · 被引 26)
The expanding clinical and genetic spectrum of DYNC1H1 -related disorders (2024 · Brain · 被引 21)