Publications by authors named "Nick Zomer"

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Deciphering the largest disease-associated transcript isoforms in the human neural retina with advanced long-read sequencing approaches.
Merel Stemerdink, Tabea Riepe, Nick Zomer, Renee Salz, Michael Kwint

Genome Res· April 2025

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Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing.
Wouter Steyaert, Lydia Sagath, German Demidov, Vicente A Yépez, Anna Esteve-Codina, Nick Zomer

Genome Res· April 2025

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De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.
Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova, Karolina Kaminska, Suzanne E de Bruijn, Nick Zomer

medRxiv· January 2025

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Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing.
Wouter Steyaert, Lydia Sagath, German Demidov, Vicente A Yépez, Anna Esteve-Codina, Nick Zomer

medRxiv· May 2024

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