Eddy N. de Boer

Targeted Next-Generation Sequencing can Replace Sanger Sequencing in Clinical Diagnostics

Birgit Sikkema‐Raddatz, Lennart Johansson, Eddy N. de Boer et al. · Human Mutation · 2013 · 294 citations · Full text

Exome Sequencing, Genetics, Mutation Detection +27

CoNVaDING: Single Exon Variation Detection in Targeted NGS Data

Lennart Johansson, Freerk van Dijk, Eddy N. de Boer et al. · Human Mutation · 2016 · 92 citations · Full text

Anomaly Detection, Engineering, Genetics +20

GAVIN: Gene-Aware Variant INterpretation for medical sequencing

K. Joeri van der Velde, Eddy N. de Boer, Cleo C. van Diemen et al. · Genome biology · 2017 · 66 citations · Full text

A next-generation sequencing method for gene doping detection that distinguishes low levels of plasmid DNA against a background of genomic DNA

Eddy N. de Boer, Petra E. van der Wouden, Lennart Johansson et al. · Gene Therapy · 2019 · 44 citations · Full text

Prevalence of intronic repeat expansions in RFC1 in Dutch patients with CANVAS and adult-onset ataxia

Fatemeh Ghorbani, Jelkje de Boer-Bergsma, Corien C. Verschuuren‐Bemelmans et al. · Journal of Neurology · 2022 · 25 citations · Full text