Erika Souche

Guidelines for diagnostic next-generation sequencing

Gert Matthijs, Erika Souche, Mariëlle Alders et al. · European Journal of Human Genetics · 2015 · 497 citations · Full text

Streptococcus agalactiae clones infecting humans were selected and fixed through the extensive use of tetracycline

Violette Da Cunha, Mark R. Davies, Pierre-Emmanuel Douarre et al. · Nature Communications · 2014 · 240 citations · Full text

Recommendations for whole genome sequencing in diagnostics for rare diseases

Erika Souche, Sergi Beltrán, Erwin Brosens et al. · European Journal of Human Genetics · 2022 · 115 citations · Full text

Mutations in <i>MAGT1</i> lead to a glycosylation disorder with a variable phenotype

Eline Blommaert, Romain Péanne, Daisy Rymen et al. · Proceedings of the National Academy of Sciences · 2019 · 88 citations · Full text

Mutations in the X-linked <i>ATP6AP2</i> cause a glycosylation disorder with autophagic defects

Maria A. Rujano, M Serio, Ganna Panasyuk et al. · The Journal of Experimental Medicine · 2017 · 84 citations · Full text