Concepedia
Author
Erika Souche
Also Known As
E Souche, E. L. Souche, E. Souche, E.L. SOUCHE, ERIKA SOUCHE, Erika L Souche, Erika L. Souche, Erika Souche, Souche, E., Souche, E. L.
96
Publications
2.6K
Citations
20
H-Index
50
Concepts
All Affiliations
1
7
290
2
4
204
3
150
13
5
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All Concepts
24
1.7K
19
Guidelines for diagnostic next-generation sequencing
Gert Matthijs, Erika Souche, Mariëlle Alders, +11
European Journal of Human Genetics
2015
497
Streptococcus agalactiae clones infecting humans were selected and fixed through the extensive use of tetracycline
Violette Da Cunha, Mark R. Davies, Pierre-Emmanuel Douarre, +43
Nature Communications
2014
240
Recommendations for whole genome sequencing in diagnostics for rare diseases
Erika Souche, Sergi Beltrán, Erwin Brosens, +26
2022
115
Mutations in <i>MAGT1</i> lead to a glycosylation disorder with a variable phenotype
Eline Blommaert, Romain Péanne, Daisy Rymen, +13
Proceedings of the National Academy of Sciences
2019
88
Mutations in the X-linked <i>ATP6AP2</i> cause a glycosylation disorder with autophagic defects
Maria A. Rujano, M Serio, Ganna Panasyuk, +24
The Journal of Experimental Medicine
2017
84
Global phylogeography and evolutionary history of Shigella dysenteriae type 1
Elisabeth Njamkepo, Nizar Fawal, Alicia Tran-Dien, +65
Nature Microbiology
BiologyPhylogeneticsBiogeographyNatural SciencesEvolutionary Biology +5
2016
77
[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
Donatienne Van Weehaeghe, Michel Koole, Mark E. Schmidt, +8
European Journal of Nuclear Medicine and Molecular Imaging
Neurodegenerative DiseasesSynaptic SignalingMedicineBrain Kinetic ModellingNeuropharmacology +7
The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects
Yaojuan Jia, Jacoba Louw, Jeroen Breckpot, +10
American Journal of Medical Genetics Part A
Heart FailurePediatric Heart DiseaseGeneticsGenetic EpidemiologyDiagnostic Value +18
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients
Bobby G. Ng, Sergey A. Shiryaev, Daisy Rymen, +54
Human Mutation
GeneticsImmunologyGlycobiologyPathologyMolecular Biology +20
54
Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next‐generation sequencing
Molka Kammoun, Erika Souche, Paul Brady, +7
Prenatal Diagnosis
2018
48
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