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Author Details

Erika Souche
Center for Human Genetics
2010
31
16
Nevan J Krogan (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
35262690CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking.Hum Mol Genet2022
35577938Recommendations for whole genome sequencing in diagnostics for rare diseases.Eur J Hum Genet2022
36214804De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.Genet Med2022
33340551Congenital Disorders of Glycosylation in Portugal-Two Decades of Experience.J Pediatr2021
33728255SLC37A4-CDG: Second patient.JIMD Rep2021
34653363Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings.Am J Hum Genet2021
31036665Mutations in <i>MAGT1</i> lead to a glycosylation disorder with a variable phenotype.Proc Natl Acad Sci U S A2019
31243495[<sup>11</sup>C]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.Eur J Nucl Med Mol Imaging2019
29439620Acute Drug Effects on the Human Placental Tissue: The Development of a Placental Murine Xenograft Model.Reprod Sci2018
29966037Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next-generation sequencing.Prenat Diagn2018
29439875Consensus document on the implementation of next generation sequencing in the genetic diagnosis of hereditary cancer.Med Clin (Barc)2018
28679690<i>SPG20</i> mutation in three siblings with familial hereditary spastic paraplegia.Cold Spring Harb Mol Case Stud2017
28471515Critical points for an accurate human genome analysis.Hum Mutat2017
29255176Repeat genetic testing with targeted capture sequencing in primary arrhythmia syndrome and cardiomyopathy.Eur J Hum Genet2017
29127204Mutations in the X-linked <i>ATP6AP2</i> cause a glycosylation disorder with autophagic defects.J Exp Med2017
26790533The opgC gene is required for OPGs succinylation and is osmoregulated through RcsCDB and EnvZ/OmpR in the phytopathogen Dickeya dadantii.Sci Rep2016
26508566Guidelines for diagnostic next-generation sequencing.Eur J Hum Genet2016
27694821Erratum: Global phylogeography and evolutionary history of Shigella dysenteriae type 1.Nat Microbiol2016
27628564Guidelines for diagnostic next-generation sequencing.Eur J Hum Genet2016
27572446Global phylogeography and evolutionary history of Shigella dysenteriae type 1.Nat Microbiol2016
26931382ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.Hum Mutat2016
25629801Corrigendum: Streptococcus agalactiae clones infecting humans were selected and fixed through the extensive use of tetracycline.Nat Commun2015
25931334The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects.Am J Med Genet A2015
25088811Streptococcus agalactiae clones infecting humans were selected and fixed through the extensive use of tetracycline.Nat Commun2014
25328540NGS-Logistics: federated analysis of NGS sequence variants across multiple locations.Genome Med2014
25375121Pseudoautosomal region 1 length polymorphism in the human population.PLoS Genet2014
22983704Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG.Glycoconj J2013
24053737SynTView - an interactive multi-view genome browser for next-generation comparative microorganism genomics.BMC Bioinformatics2013
22448966Permanent genetic resources added to Molecular Ecology Resources Database 1 December 2011-31 January 2012.Mol Ecol Resour2012
21668940Single nucleotide polymorphism discovery from expressed sequence tags in the waterflea Daphnia magna.BMC Genomics2011
21798212Gilthead sea bream (Sparus auratus) and European sea bass (Dicentrarchus labrax) expressed sequence tags: Characterization, tissue-specific expression and gene markers.Mar Genomics2010
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Collaborators

Gert Matthijs
Center for Human Genetics, KU Leuven and University Hospitals Leuven
Co-authored papers 14
Valérie Race
Co-authored papers 8
Daisy Rymen
Center for Metabolic Diseases, University Hospitals of Leuven
Co-authored papers 7
Jaak Jaeken
Co-authored papers 6
Fran??ois Foulquier
CNRS, Universite de Lille
Co-authored papers 4
Bobby G Ng
Co-authored papers 3
Hudson H Freeze
Co-authored papers 3
Amin Ardeshirdavani
STADIUS Center for Dynamical Systems
Co-authored papers 2
Martin Aslett
The Wellcome Trust Sanger Institute
Co-authored papers 2
Paula Garcia
Hospital Pediatrico de Coimbra
Co-authored papers 2
Romain P??anne
Center for Human Genetics
Co-authored papers 2
Dulce Quelhas
Unidade de Bioquimica Genetica, Centro Hospitalar Universitario do Porto
Co-authored papers 2
Hanns Lochm??ller
Children's Hospital of Eastern Ontario Research Institute
Co-authored papers 1
Steven Van Vooren
Katholieke Universiteit Leuven
Co-authored papers 1
Esther M Maier
Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University
Co-authored papers 1
Fr??d??ric Amant
Netherlands Cancer Institute
Co-authored papers 1
Yves Moreau
KU Leuven - University of Leuven
Co-authored papers 1
Peter Freisinger
Hospital Reutlingen
Co-authored papers 1
Nevan J Krogan (CM4AI)
University of California San Francisco
Co-authored papers 1
Deborah A Nickerson
University of Washington
Co-authored papers 1
Els Hermans
Netherlands Cancer Institute
Co-authored papers 1
John W Belmont
Baylor College of Medicine
Co-authored papers 1
Rachel Thompson
Children's Hospital of Eastern Ontario Research Institute
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Lynne A Wolfe
National Institutes of Health Undiagnosed Diseases Program
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Stefanie J??ger
Institute of Molecular Biosciences, Goethe University Frankfurt
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Susana Nobre
Centro Hospitalar e Universitario de Coimbra
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