Erika Souche

Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders

Recommendations for whole genome sequencing in diagnostics for rare diseases

Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings

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

[11C]JNJ54173717, a novel P2X7 receptor radioligand as marker for neuroinflammation: human biodistribution, dosimetry, brain kinetic modelling and quantification of brain P2X7 receptors in patients with Parkinson’s disease and healthy volunteers

Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next‐generation sequencing

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

Erratum: Guidelines for diagnostic next-generation sequencing

Global phylogeography and evolutionary history of Shigella dysenteriae type 1

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

Guidelines for diagnostic next-generation sequencing

The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects

Range-wide population structure of European sea bass<i>Dicentrarchus labrax</i>

Permanent Genetic Resources added to Molecular Ecology Resources Database 1 December 2011 – 31 January 2012