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Paper Details

Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization.
Neurology
14
2022
Author NameAffiliation
Sergi BeltranBellvitge Biomedical Research Institute (IDIBELL) Instituto de Salud Carlos III (ISCIII) (A.S., Hospital Clinic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS) (M. Giros), Center for Biomedical Research on Rare Diseases (CIBERER) Pediatric Neurology Unit, Hospital Universitari Germans Trias i Pujol (A.R.-P.), Vall d'Hebron Research Institute (A.M.), Vall d'Hebron University Hospital (M.d.T., Universitat Autonoma de Barcelona Neuromuscular Unit, Hospital Universitari de Bellvitge and Hospitalet de Llobregat, Universitat de Barcelona Institut de Recerca Pediatrica (R.A., Hospital Sant Joan de Deu (IRP-HSJD), Navarra Health Service, Navarrabiomed Research Foundation Departments of Neuropediatrics (I.M.) and Neurology (E.M.R., Hospital Universitario Donostia Biodonostia Health Research Institute (Biodonostia HRI) (I.M., A.L.d.M.) University of the Basque Country (UPV-EHU) (I.M., Carlos III Health Institute, CNRS UMR 4/INSERM U964/Universite de Strasbourg, Hopitaux Universitaires de Strasbourg Chaire de Genetique Humaine (J.L.M.), College de France, Illkirch Complejo Asistencial Universitario de Burgos (D.C.) Department of Paediatric Neurology (C.S.-C.), Complejo Hospitalario Jaen CNAG-CRG, Barcelona Institute of Science and Technology (BIST) Department of Pediatric Radiology (E. Vazquez), Hospital Materno-Infantil Vall d'Hebron, Hospital Clinico San Borja Arriaran, Central Campus Universidad de Chile Genetics Service (L.A.P.-J.), Hospital del Mar Research Institute (IMIM) Department of Experimental and Health Sciences (L.A.P.-J.), Universitat Pompeu Fabra, Children's University Hospital Nino Jesus, Madrid and Catalan Institution of Research and Advanced Studies (ICREA) (A.P.)
Marta GutBellvitge Biomedical Research Institute (IDIBELL) Instituto de Salud Carlos III (ISCIII) (A.S., Hospital Clinic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS) (M. Giros), Center for Biomedical Research on Rare Diseases (CIBERER) Pediatric Neurology Unit, Hospital Universitari Germans Trias i Pujol (A.R.-P.), Vall d'Hebron Research Institute (A.M.), Vall d'Hebron University Hospital (M.d.T., Universitat Autonoma de Barcelona Neuromuscular Unit, Hospital Universitari de Bellvitge and Hospitalet de Llobregat, Universitat de Barcelona Institut de Recerca Pediatrica (R.A., Hospital Sant Joan de Deu (IRP-HSJD), Navarra Health Service, Navarrabiomed Research Foundation Departments of Neuropediatrics (I.M.) and Neurology (E.M.R., Hospital Universitario Donostia Biodonostia Health Research Institute (Biodonostia HRI) (I.M., A.L.d.M.) University of the Basque Country (UPV-EHU) (I.M., Carlos III Health Institute, CNRS UMR 4/INSERM U964/Universite de Strasbourg, Hopitaux Universitaires de Strasbourg Chaire de Genetique Humaine (J.L.M.), College de France, Illkirch Complejo Asistencial Universitario de Burgos (D.C.) Department of Paediatric Neurology (C.S.-C.), Complejo Hospitalario Jaen CNAG-CRG, Barcelona Institute of Science and Technology (BIST) Department of Pediatric Radiology (E. Vazquez), Hospital Materno-Infantil Vall d'Hebron, Hospital Clinico San Borja Arriaran, Central Campus Universidad de Chile Genetics Service (L.A.P.-J.), Hospital del Mar Research Institute (IMIM) Department of Experimental and Health Sciences (L.A.P.-J.), Universitat Pompeu Fabra, Children's University Hospital Nino Jesus, Madrid and Catalan Institution of Research and Advanced Studies (ICREA) (A.P.)
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Datasets

Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink