Publications by authors named "Erika Souche"

23Publications

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

Prenat Diagn 2018 08 19;38(9):654-663. Epub 2018 Jul 19.

Department for Human Genetics, Katholieke Universiteit Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/pd.5327DOI Listing
August 2018

Consensus document on the implementation of next generation sequencing in the genetic diagnosis of hereditary cancer.

Med Clin (Barc) 2018 07 10;151(2):80.e1-80.e10. Epub 2018 Feb 10.

Molecular Diagnostic Unit, Hereditary Cancer Program, IDIBELL-Catalan Institute of Oncology, L'Hospitalet del Llobregat, Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.medcli.2017.12.010DOI Listing
July 2018

mutation in three siblings with familial hereditary spastic paraplegia.

Cold Spring Harb Mol Case Stud 2017 07 5;3(4). Epub 2017 Jul 5.

Center for Human Genetics, KU Leuven, 3000 Leuven, Belgium.

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http://dx.doi.org/10.1101/mcs.a001537DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5495031PMC
July 2017

Erratum: Global phylogeography and evolutionary history of Shigella dysenteriae type 1.

Nat Microbiol 2016 10 3;1(11):16209. Epub 2016 Oct 3.

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http://dx.doi.org/10.1038/nmicrobiol.2016.209DOI Listing
October 2016

Global phylogeography and evolutionary history of Shigella dysenteriae type 1.

Nat Microbiol 2016 03 21;1:16027. Epub 2016 Mar 21.

Institut Pasteur, Unité des Bactéries Pathogènes Entériques, 75724 Paris Cedex 15, France.

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http://dx.doi.org/10.1038/nmicrobiol.2016.27DOI Listing
March 2016

The opgC gene is required for OPGs succinylation and is osmoregulated through RcsCDB and EnvZ/OmpR in the phytopathogen Dickeya dadantii.

Sci Rep 2016 Jan 21;6:19619. Epub 2016 Jan 21.

Structural and Functional Glycobiology Unit, UMR CNRS-Lille1 8576, University of Lille, 59655 Villeneuve d'Ascq cedex, France.

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http://www.nature.com/articles/srep19619
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http://dx.doi.org/10.1038/srep19619DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4726272PMC
January 2016

Guidelines for diagnostic next-generation sequencing.

Eur J Hum Genet 2016 Jan 28;24(1):2-5. Epub 2015 Oct 28.

University Hospital of Tübingen, Institute of Medical Genetics and Applied Genomics, Tübingen, Germany.

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http://dx.doi.org/10.1038/ejhg.2015.226DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795226PMC
January 2016

NGS-Logistics: federated analysis of NGS sequence variants across multiple locations.

Genome Med 2014 17;6(9):71. Epub 2014 Sep 17.

KU Leuven, Department of Electrical Engineering (ESAT), STADIUS Center for Dynamical Systems, Signal Processing and Data Analytics, Kasteelpark Arenberg 10, Box 2446, 3001 Leuven, Belgium ; iMinds Medical IT Department, Kasteelpark Arenberg 10, Box 2446, 3001 Leuven, Belgium.

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http://dx.doi.org/10.1186/s13073-014-0071-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4198698PMC
October 2014

SynTView - an interactive multi-view genome browser for next-generation comparative microorganism genomics.

BMC Bioinformatics 2013 Sep 22;14:277. Epub 2013 Sep 22.

Institut Pasteur, Plate-forme Bioanalyse Génomique, 28 rue du Docteur Roux, Paris, Cedex 15 75724, France.

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http://dx.doi.org/10.1186/1471-2105-14-277DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3849071PMC
September 2013

Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG.

Glycoconj J 2013 Jan 15;30(1):67-76. Epub 2012 Sep 15.

Center for Human Genetics, University of Leuven, Herestraat 49, 3000, Leuven, Belgium.

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http://dx.doi.org/10.1007/s10719-012-9445-7DOI Listing
January 2013

Gilthead sea bream (Sparus auratus) and European sea bass (Dicentrarchus labrax) expressed sequence tags: Characterization, tissue-specific expression and gene markers.

Mar Genomics 2010 Sep-Dec;3(3-4):179-91. Epub 2010 Oct 8.

Centre of Marine Sciences, University of Algarve, Building 7, Gambelas, 8000-139 Faro, Portugal; Division of Genetics and Genomics, Roslin Institute and Royal (Dick) School of Veterinary Sciences, University of Edinburgh, Roslin, Midlothian, EH25 9PS, United Kingdom.

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http://dx.doi.org/10.1016/j.margen.2010.09.005DOI Listing
October 2012

Single nucleotide polymorphism discovery from expressed sequence tags in the waterflea Daphnia magna.

BMC Genomics 2011 Jun 13;12:309. Epub 2011 Jun 13.

Laboratory of Aquatic Ecology and Evolutionary Biology, K,U, Leuven, Ch, Deberiotstraat 32, 3000 Leuven, Belgium.

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http://dx.doi.org/10.1186/1471-2164-12-309DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3146954PMC
June 2011