Concepedia

Nick Zomer

NZ

Statistics

Publications

4

Citations

70

H-Index

4

Active since

2024

Affiliations

University of Cambridge(Current)

Technical University of Munich

University College London

University of Tübingen

Radboud University Nijmegen

Nick Zomer is an author at University of Cambridge specializing in molecular genetics, genomics, and diagnostic variant interpretation.

Publications per year

2024–2026

4

Publications

4

Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing

Wouter Steyaert, Lydia Sagath, German Demidov et al. · Genome Research · 2025 · 24 citations · Full text

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Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing

Wouter Steyaert, Lydia Sagath, German Demidov et al. · medRxiv · 2024 · 20 citations · Full text

, , +17

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvačková et al. · medRxiv · 2025 · 15 citations · Full text

, , +15

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

Kim Rodenburg, Zuzana Cvačková, Karolina Kamińska et al. · Nature Genetics · 2026 · 11 citations · Full text

, , +16

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