Eva Morava-Kozicz
  • Source: Scopus
  • Calculated based on no. of publications stored in Pure and citations from Scopus
1992 …2022

Research activity per year

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Network

Ron A. Wevers

  • Department of Laboratory Medicine
  • IGMD
  • Dept. of Neurology
  • Radboud University Nijmegen
  • Dept. of Pediatrics
  • Department of Laboratory Medicine
  • Laboratory of Genetic Endocrine and Metabolic Diseases
  • Institute for Genetic and Metabolic Disease
  • Translational Metabolic Laboratory
  • Tulane University
  • Hayward Genetics Center
  • Laboratory of Genetic, Endocrine and Metabolic Disorders
  • Department of Laboratory Medicine
  • Department of Laboratory Medicine
  • Laboratory of Genetic
  • Nijmegen Medical Center
  • Laboratory of Pediatrics and Neurology (319)
  • Department of Pediatrics
  • Department of Laboratory Medicine
  • Department of Laboratory Medicine
  • Institute of Genetic and Metabolic Disease
  • Laboratory of Endocrine, Metabolic and Genetic Disorders
  • Departments of Pediatrics and Neurology
  • Department of Pediatrics
  • Children's Memorial Health Institute
  • Department of Pediatrics
  • Laboratory of Paediatrics and Neurology
  • RUNMC
  • Laboratory of Genetic, Endocrine and Metabolic Diseases (LGEM)
  • Institute of Genetic and Metabolic Disease (IGMD)
  • Laboratory of Genetic, Endocrine and Metabolic Diseases
  • Laboratory of Pediatrics and Neurology (830)
  • Department of Laboratory Medicine
  • Laboratory of Genetic
  • Department of Laboratory Medicine
  • Department of Neurology
  • 830 Department of Laboratory Medicine
  • Laboratory of Pediatrics and Neurology
  • Department of Laboratory Medicine

External person

Dirk J. Lefeber

  • Radboud University Nijmegen
  • Department of Laboratory Medicine
  • Department of Human Genetics, Radboud University Nijmegen Medical Centre
  • Laboratory of Genetic Endocrine and Metabolic Diseases
  • Institute for Genetic and Metabolic Disease
  • Department of Neurology
  • Department of Pediatrics and IGMD
  • Dept. of Pediatrics
  • Department of Laboratory Medicine
  • Nijmegen Medical Center
  • Department of Pediatrics
  • Laboratory of Pediatrics and Neurology
  • Department of Laboratory Medicine
  • Donders Institute for Brain
  • Laboratory of Paediatrics and Neurology
  • Laboratory of Genetic, Endocrine and Metabolic Disorders
  • Department of Laboratory Medicine
  • Department of Laboratory Medicine
  • Laboratory of Endocrine, Metabolic and Genetic Disorders
  • Children's Memorial Health Institute
  • Department of Pediatrics
  • Radboudumc
  • RUNMC
  • Laboratory of Genetic, Endocrine and Metabolic Diseases (LGEM)
  • Department of Neurology
  • Institute of Genetic and Metabolic Disease (IGMD)
  • Institute for Genetic and Metabolic Disease (IGMD)
  • Laboratory for Genetic
  • Department of Neurology
  • Translational Metabolic Laboratory
  • Department of Neurology
  • Donders Institute for Brain
  • Department of Neurology and Translational Metabolic Laboratory
  • Translational Metabolic Laboratory
  • and Behavior
  • Donders Institute for Brain
  • and Behavior

External person

Richard J.T. Rodenburg

  • Radboud University Nijmegen
  • Nijmegen Medical Center
  • Nijmegen Center for Mitochondrial Disorders
  • Dept. of Pediatrics
  • Translational Metabolic Laboratory
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Pediatrics
  • Radboud Center for Mitochondrial Medicine
  • Medical Center
  • Nijmegen Centre for Mitochondrial Disorders
  • Department of Pediatrics and Laboratory of Pediatrics and Neurology
  • NCMD
  • Laboratorium Kindergeneeskunde en Neurologie
  • Nijmegen Centre for Mitochondrial Disorders at the Department of Pediatrics
  • Department of Laboratory Medicine
  • Department of Laboratory Medicine
  • Department of Pediatrics
  • RUNMC
  • Laboratory of Genetic, Endocrine and Metabolic Diseases (LGEM)
  • Institute of Genetic and Metabolic Disease (IGMD)
  • Department of Pediatrics
  • Nijmegen Centre for Mitochondrial Disorders
  • Department of Pediatrics
  • Nijmegen Center for Mitochondrial Disorders
  • Laboratory of Genetic Endocrine and Metabolic Diseases
  • Radboudumc
  • Radboudumc

External person

J. Smeitink

  • Aarhus University
  • Radboud University Nijmegen
  • Dept. of Pediatrics
  • Nijmegen Center for Mitochondrial Disorders
  • Department of Pediatrics
  • Research Unit for Molecular Medicine
  • Department of Pediatrics
  • University of Ioannina
  • Department of Pediatrics
  • Department of Pediatrics
  • Nijmegen Centre for Mitochondrial Disorders
  • Department of Pediatrics and Laboratory of Pediatrics and Neurology
  • Nijmegen Center for Mitochondrial Disorders
  • Nijmegen Centre for Mitochondrial Disorders at the Department of Pediatrics
  • Department of Pediatrics
  • RUNMC
  • Institute of Genetic and Metabolic Disease (IGMD)
  • Department of Pediatrics
  • Radboudumc Amalia Children's Hospital
  • Department of Pediatrics
  • Nijmegen Centre for Mitochondrial Disorders
  • Afdeling Kindergeneeskunde
  • UMC St. Radboud
  • Department of Pediatrics
  • Khondrion BV

External person

Saskia B. Wortmann

  • Radboud University Nijmegen
  • Dept. of Pediatrics
  • Department of Pediatrics
  • Nijmegen Centre for Mitochondrial Disorders
  • Nijmegen Centre for Mitochondrial Disorders
  • Institute of Genetic and Metabolic Disease
  • Department of Pediatrics
  • Institute of Human Genetics
  • Paracelsus Private Medical University
  • Technical University of Munich
  • Helmholtz Zentrum München - German Research Center for Environmental Health
  • Institute of Human Genetics
  • Department of Paediatrics
  • Department of Pediatrics
  • Duke University
  • Department of Pediatrics
  • RUNMC
  • Institute of Genetic and Metabolic Disease (IGMD)
  • Department of Pediatrics
  • Radboudumc Amalia Children's Hospital
  • Nijmegen Center for Mitochondrial Disorders
  • Department of Pediatrics
  • Nijmegen Center for Mitochondrial Disorders
  • Laboratory of Genetic Endocrine and Metabolic Diseases
  • Department of Pediatrics
  • Mayo Clinic Rochester, MN
  • Medical University of Vienna
  • University Children's Hospital

External person

C. Bacino

  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • BCM
  • BCM

External person

Peter Witters

  • KU Leuven
  • Department of Pediatrics
  • Department of Development and Regeneration
  • Metabolic Center
  • Department of Metabolic Diseases
  • Department of Pediatric Hepatology
  • Urology
  • Department of Gastroenterology-Hepatology and Metabolic Center
  • Centre for Metabolic Diseases
  • Faculty of Medicine
  • Department of Pediatrics

External person

Mercedes E. Alejandro

  • BCM
  • Baylor College of Medicine
  • BCM

External person

G. Kosztolányi

  • University of Pecs
  • Medical Faculty
  • Department of Medical Genetics
  • Department of Medical Genetics and Child Development
  • POTE
  • Dept. Med. Genet. and Child Devmt.
  • Medical Faculty
  • Institut Für Medizinische Genetik
  • University of Zurich
  • Universität Pécs
  • Institut Medizinische Genetik
  • Dept. of Medical Genetics/Child Dev.
  • Institute of Medical Genetics
  • Dept. Med. Genet. and Child Devmt.
  • Pécsi Tudományegyetem
  • Hungarian Academy of Sciences
  • Department of Pediatrics
  • University of Debrecen
  • ETH/University of Zurich

External person

A. Balasubramanyam

  • Baylor College of Medicine
  • Department of Endocrinology, Metabolism and Diabetes
  • Endocrine Service
  • Michael E. DeBakey VA Medical Center
  • BCM
  • BCM
  • Ben Taub General Hospital

External person

Thatjana Gardeitchik

  • Radboud University Nijmegen
  • Department of Human Genetics, Radboud University Nijmegen Medical Centre
  • Department of Pediatrics
  • Department of Pediatrics
  • Institute for Genetic and Metabolic Disease
  • Department of Pediatrics
  • Institute for Genetic and Metabolic Disease
  • Nijmegen Center for Mitochondrial Disorders
  • Department of Laboratory Medicine
  • Hayward Genetics Center
  • Laboratory of Genetic Endocrine and Metabolic Diseases
  • Tulane University
  • RUNMC
  • Laboratory of Genetic, Endocrine and Metabolic Diseases (LGEM)
  • Institute of Genetic and Metabolic Disease (IGMD)

External person

Jaak Jaeken

  • Department of Pediatrics
  • KU Leuven
  • Department of Pediatrics
  • Department of Development and Regeneration
  • CDG & Allies – Professionals and Patient Associations International Network (CDG & Allies – PPAIN)
  • Center for Metabolic Disease
  • Herestraat 49
  • UCIBIO
  • NOVA University Lisbon
  • Centre for Metabolic Diseases
  • Metabolic Center
  • CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies - PPAIN)
  • Department of Human Genetics

External person

Maria T. Acosta

  • Children's National Medical Center
  • National Institutes of Health

External person

Mahshid Azamian

  • Department of Molecular and Human Genetics
  • Baylor College of Medicine
  • BCM
  • BCM

External person

David R. Adams

  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • Office of the Clinical Director
  • Undiagnosed Diseases Network
  • University of Ioannina
  • Department of Pediatrics
  • Undiagnosed Diseases Program
  • Office of the Director

External person

Eva H. Baker

  • University of Minnesota Twin Cities
  • Department of Radiology
  • Department of Radiology
  • Center for Magnetic Resonance Research
  • National Institutes of Health

External person

Ashley Andrews

  • University of Utah

External person

Justin Alvey

  • University of Utah

External person

Pankaj B. Agrawal

  • Divisions of Genetics and Genomics and Newborn Medicine
  • Harvard University
  • Division of Genetics and Genomics
  • Harvard
  • Harvard

External person

Dustin Baldridge

  • Washington University St. Louis

External person

Lambert P. Van Den Heuvel

  • Radboud University Nijmegen
  • Nijmegen Medical Center
  • Department of Laboratory Medicine
  • Nijmegen Center for Mitochondrial Disorders
  • Department of Pediatrics
  • Department of Pediatrics
  • Laboratory of Genetic Endocrine and Metabolic Diseases
  • Nijmegen Centre for Mitochondrial Disorders
  • Department of Pediatrics and Laboratory of Pediatrics and Neurology
  • Department of Pediatrics
  • NCMD
  • Laboratorium Kindergeneeskunde en Neurologie
  • Dept. of Pediatrics
  • Department of Laboratory Medicine
  • Department of Pediatrics
  • Laboratory of Paediatrics and Neurology
  • Department of Laboratory Medicine
  • Department of Pediatrics
  • Nijmegen Centre for Mitochondrial Disorders
  • Department of Laboratory Medicine
  • Translational Metabolic Laboratory

External person

G. Bademci

  • University of Miami
  • MIAMI
  • MIAMI
  • MIAMI
  • MIAMI
  • AMERICAN ASSOCIATION FOR STDY LIVER DIS

External person

James F. Bale

  • University of Utah

External person

Deborah Barbouth

  • University of Miami
  • MIAMI
  • MIAMI
  • MIAMI
  • MIAMI
  • AMERICAN ASSOCIATION FOR STDY LIVER DIS

External person

Gill Bejerano

  • Stanford University
  • Stanford

External person

Pinar Bayrak-Toydemir

  • University of Utah
  • Department of Pathology

External person

Alan H. Beggs

  • Harvard University
  • Harvard
  • Harvard

External person

Miski Mohamed

  • Department of Pediatrics
  • Institute for Genetic and Metabolic Disease
  • Radboud University Nijmegen
  • Department of Laboratory Medicine
  • Department of Pediatrics
  • Department of Pediatrics
  • Duke University
  • Department of Pediatrics
  • Hayward Genetics Center
  • Laboratory of Genetic Endocrine and Metabolic Diseases
  • Tulane University
  • Institute for Genetic and Metabolic Disease
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Pediatrics

External person

Anna Bican

  • Vanderbilt University
  • Vanderbilt Clinic

External person

Gerard T. Berry

  • Thomas Jefferson University
  • Harvard University
  • Division of Hematology/Oncology
  • Harvard
  • Harvard

External person

M. Czakó

  • University of Pecs
  • MTA-POTE Clin. Genet. Research Group
  • Medical Faculty
  • Dept. of Medical Genetics/Child Dev.
  • Medical Faculty
  • Hungarian Academy of Sciences
  • Department of Medical Genetics

External person

Laura M. Amendola

  • University of Washington
  • Clinical Sequencing Exploratory Research Coordinating Center
  • Department of Medicine, Division of Cardiology, University of Washington
  • Division of Medical Genetics
  • PNW Research Station

External person

Michael Bamshad

  • University of Washington
  • PNW Research Station

External person

Jonathan A. Bernstein

  • Perinatal Epidemiology and Health Outcomes Research Unit
  • Stanford University
  • Department of Pediatrics
  • Stanford
  • Stanford Center for Undiagnosed Diseases

External person

Margaret P. Adam

  • Emory University
  • University of Washington
  • Department of Human Genetics
  • Department of Pediatrics
  • Department of Human Genetics
  • PNW Research Station

External person

Stephanie Bivona

  • University of Miami
  • MIAMI
  • MIAMI
  • MIAMI
  • MIAMI
  • AMERICAN ASSOCIATION FOR STDY LIVER DIS

External person

Anita E. Beck

  • University of Washington
  • Section of Neonatology
  • PNW Research Station

External person

Beverly Berg-Rood

  • University of Washington
  • PNW Research Station

External person

Maaike C. De Vries

  • Radboud University Nijmegen
  • Dept. of Pediatrics
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Pediatrics
  • Nijmegen Center for Mitochondrial Disorders
  • Nijmegen Centre for Mitochondrial Disorders
  • Nijmegen Center for Mitochondrial Disorders
  • Department of Pediatrics
  • Nijmegen Medical Center
  • Department of Pediatrics

External person

Jolanta Sykut-Cegielska

  • Department of Inborn Errors of Metabolism and Paediatrics
  • Instytut Matki I Dziecka
  • Institute of Mother and Child
  • University of Warsaw
  • Department of Paediatrics
  • Children's Memorial Health Institute
  • Children's Memorial Health Institute
  • Department of Metabolic and Endocrine Disorders
  • Department of Metabolic Diseases
  • Department of Metabolic Diseases
  • Department of Metabolic Diseases
  • Screening and Metabolic Diagnostics Department
  • National Consultant in Paediatric Metabolic Medicine

External person

Euan A. Ashley

  • Stanford University
  • Stanford

External person

Karin Huijben

  • Laboratory of Genetic Endocrine and Metabolic Diseases
  • Radboud University Nijmegen
  • Department of Laboratory Medicine
  • Laboratory of Pediatrics and Neurology (319)
  • Translational Metabolic Laboratory
  • Department of Laboratory Medicine
  • Nijmegen Medical Center

External person

Edward Behrens

  • CHOP
  • University of Pennsylvania

External person

Stephanie Grünewald

  • Great Ormond Street Hospital
  • University College London
  • Metabolic Medicine Department
  • Department of Metabolic Medicine
  • University of Duisburg-Essen
  • Center for Peadiatrics
  • Metabolic Unit
  • Department of Pediatrics

External person

Leo A J Kluijtmans

  • Radboud University Nijmegen
  • Department of Laboratory Medicine
  • Departments of Pediatrics and Neurology
  • Laboratory of Genetic, Endocrine and Metabolic Disorders
  • Nijmegen Medical Center
  • Department of Laboratory Medicine
  • RUNMC
  • Laboratory of Genetic, Endocrine and Metabolic Diseases (LGEM)
  • Laboratory of Paediatrics and Neurology
  • 830 Department of Laboratory Medicine
  • Laboratory of Genetic Endocrine and Metabolic Diseases
  • Department of Pediatrics

External person

M. Adamowicz

  • Children's Memorial Health Institute
  • Children's Memorial Health Institute
  • Department of Biochemistry and Experimental Medicine
  • Department of Biochemistry and Experimental Medicine
  • Department of Metabolic and Endocrine Disorders
  • University of Warsaw
  • Department of Paediatrics
  • Department of Biochemistry and Experimental Medicine
  • Protein Laboratory
  • Laboratory of Diagnostics Department
  • Department of Biochemistry and Experimental Medicine
  • Department of Metabolic Diseases
  • Department of Metabolic Diseases
  • Department of Biochemistry and Experimental Medicine
  • Department of Biochemistry and Experimental Medicine
  • Istanbul University Cerrahpaşa

External person

Devon Bonner

  • Stanford University
  • Stanford

External person

Jimmy Bennet

  • University of Washington

External person

John Bohnsack

  • University of Utah

External person

Carsten Bonnenmann

  • National Institutes of Health

External person

D. Cassiman

  • Departments of Internal Medicine and Pediatrics
  • KU Leuven
  • Department of Gastroenterology-Hepatology and Metabolic Center
  • Department of Pediatrics
  • Laboratory of Hepatology
  • Centre for Metabolic Diseases
  • Metabolic Center
  • Department of Hepatology
  • Department of Hepatology of the Unversity Hospitals

External person

Elizabeth Blue

  • University of Washington
  • PNW Research Station

External person

Kimiyo Raymond

  • Mayo Clinic School of Medicine
  • Mayo Clinic College of Medicine
  • Mayo Clinic College of Medicine and Science
  • Mayo Clinic Rochester, MN
  • Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Division of Laboratory Genetics
  • Biochemical Genetics Laboratory
  • Dept. of Lab. Medicine and Pathology
  • Department of Medical Genetics
  • Department of Laboratory Medicine and Pathology
  • Biochemical Genetics Laboratory
  • Mayo Clinic College of Medicine
  • Department of Medical Genetics
  • College of Medicine
  • Department of Clinical Genomics
  • Departments of Laboratory Medicine and Pathology
  • Clinical Genomics
  • Center for Individualized Medicine, Mayo Clinic
  • Children's Memorial Health Institute

External person

Uwe Kornak

  • Max Planck Institute for Molecular Genetics
  • Charité – Universitätsmedizin Berlin
  • Max-Planck-Institut fuer Molekulare Genetik
  • Institute of Medical Genetics and Human Genetics
  • Institut of Medical Genetics
  • Institute of Medical Genetics
  • Free University of Berlin
  • Research Group Development and Disease
  • Institute of Medical and Human Genetics

External person

Lorenzo D. Botto

  • University of Utah
  • Department of Pediatrics

External person

Mailys Guillard

  • Department of Laboratory Medicine
  • Radboud University Nijmegen
  • Department of Neurology
  • Department of Laboratory Medicine
  • Nijmegen Medical Center
  • Dept. of Pediatrics
  • Laboratory of Genetic Endocrine and Metabolic Diseases
  • Department of Laboratory Medicine
  • Laboratory of Paediatrics and Neurology
  • Laboratory of Pediatrics and Neurology
  • Department of Laboratory Medicine
  • Department of Neurology
  • Department of Laboratory Medicine
  • Donders Institute for Brain

External person

C. Thiel

  • Heidelberg University 
  • Department Kinderheilkunde I

External person

Lauren C. Briere

  • Harvard University
  • Harvard
  • Harvard

External person

Tomas Honzik

  • Department of Pediatrics and Adolescent Medicine
  • Charles University
  • Department of Pediatrics

External person

B. Melegh

  • University of Pecs
  • Medical Faculty
  • Dept. Med. Genet. and Child Devmt.
  • Department of Pediatrics
  • Pécsi Tudományegyetem
  • Hungarian Academy of Sciences
  • Dept. Med. Genet. and Child Devmt.
  • MTA-POTE Clin. Genet. Res. Grp. H.

External person

Udo Engelke

  • Radboud University Nijmegen
  • Laboratory of Genetic Endocrine and Metabolic Diseases
  • Nijmegen Medical Center
  • Department of Pediatrics
  • Department of Laboratory Medicine
  • Department of Laboratory Medicine
  • Laboratory of Paediatrics and Neurology
  • 830 Department of Laboratory Medicine

External person

Monique Van Scherpenzeel

  • Translational Metabolic Laboratory
  • Radboud University Nijmegen
  • Department of Neurology
  • Department of Neurology
  • Donders Institute for Brain
  • Department of Laboratory Medicine
  • Laboratory of Genetic, Endocrine and Metabolic Disorders
  • GlycoMScan B.V

External person

Lindsay C. Burrage

  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • BCM
  • BCM
  • Texas Children's Hospital Houston

External person

Michel A. Willemsen

  • Radboud University Nijmegen
  • Department of Neurology
  • Department of Paediatric Neurology
  • Department of Pediatrics
  • Departments of Pediatrics and Neurology
  • Radboudumc
  • Donders Institute for Brain
  • Department of Neurology

External person

Leo Nijtmans

  • Radboud University Nijmegen
  • Department of Pediatrics
  • Institute for Genetic and Metabolic Disease
  • Department of Pediatrics
  • Radboud Center for Mitochondrial Medicine
  • Medical Center
  • Section for Molecular Biology
  • University of Amsterdam
  • NCMD
  • Laboratorium Kindergeneeskunde en Neurologie
  • Translational Metabolic Laboratory
  • Dept. of Pediatrics
  • RUNMC
  • Institute of Genetic and Metabolic Disease (IGMD)

External person

Judit Karteszi

  • Medical Faculty
  • University of Pecs
  • Department of Medical Genetics
  • Pécsi Tudományegyetem
  • Dept. Med. Genet. and Child Devmt.
  • Medical Faculty

External person

Suzan Wopereis

  • Laboratory of Pediatrics and Neurology (319)
  • Radboud University Nijmegen
  • Nijmegen Medical Center
  • Department of Pediatrics
  • University of Duisburg-Essen

External person

Martin Lammens

  • Radboud University Nijmegen
  • Institute for Genetic and Metabolic Disease
  • Tulane University
  • Hayward Genetics Center
  • Laboratory of Genetic, Endocrine and Metabolic Disorders
  • Pathology Department
  • Department of Pathology
  • Department of Pediatrics
  • NCMD
  • Department of Pediatrics
  • Department of Epidemiology
  • RUNMC
  • Department of Pathology

External person

Pascale de Lonlay

  • Reference Center of Metabolism
  • Université Paris 5
  • Hôpital Necker
  • Reference Center for Inherited Metabolic Diseases
  • Université Paris Cité
  • Paris Descartes University, Sorbonne Paris Cité, Necker Medicine Faculty

External person

Lisa Emrick

  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • Department of Pediatrics
  • BCM
  • BCM
  • Texas Children's Hospital Houston

External person

Silvia Radenkovic

  • Metabolomics Expertise Center
  • Laboratory of Hepatology
  • KU Leuven
  • Flanders Institute for Biotechnology
  • Laboratory for Translational Genetics
  • Mayo Clinic Rochester, MN

External person

Matthias R. Baumgartner

  • University Children's Hospital
  • University of Zurich
  • Division of Metabolism
  • Division of Metabolism and Children’s Research Center
  • Metabolism and Molecular Paediatrics

External person

Elly Brokamp

  • Vanderbilt University
  • Vanderbilt Clinic

External person

Alexander Hoischen

  • Radboud University Nijmegen
  • Department of Human Genetics, Radboud University Nijmegen Medical Centre
  • University of Bergen
  • Center for Medical Genetics and Molecular Medicine

External person

Jill Rosenfeld

  • PerkinElmer Inc.
  • PerkinElmer, Inc.
  • Signature Genomics
  • PerkinElmer, Inc.
  • Baylor College of Medicine
  • Signature Genomic Laboratories
  • Department of Molecular and Human Genetics
  • Exome Laboratory
  • Baylor Miraca Genetics Laboratory
  • PerkinElmer, Inc.
  • Baylor Genetics, LLC
  • BCM
  • BCM

External person

Andrew C. Edmondson

  • Division of Oncology
  • University of Pennsylvania

External person

Joris A. Veltman

  • Radboud University Nijmegen
  • Maastricht University
  • Department of Human Genetics, Radboud University Nijmegen Medical Centre
  • Department of Clinical Genetics
  • DNA Diagnostics
  • RUNMC
  • Department of Human Genetics
  • Institute for Genetic and Metabolic Disease
  • Department of Human Genetics
  • Newcastle University
  • Institute of Genetic Medicine
  • Department of Neurology
  • Children's Memorial Health Institute
  • University of Groningen

External person

Linda De Meirleir

  • Pediatric Neurology
  • Vrije Universiteit Brussel
  • Pediatric Neurology and Metabolic Diseases
  • Free Universities of Brussels
  • Department of Human Genetics
  • Pediatric Neurology and Metabolics

External person

Dorus Kouwenberg

  • Department of Pediatrics
  • Institute for Genetic and Metabolic Disease
  • Radboud University Nijmegen
  • Department of Laboratory Medicine
  • Department of Pediatrics
  • Institute for Genetic and Metabolic Disease
  • Department of Pediatrics

External person

François Foulquier

  • CNRS-UMR 8576
  • Universite de Lille 2
  • KU Leuven
  • Center for Human Genetics
  • Structural and Functional Glycobiology Unit
  • Universite des Sciences et Technologies de Lille
  • LIA GLYCOLAB4CDG France/Belgium (International Associated Laboratory Laboratory for the Research on Congenital Disorders of Glycosylation - from cellular mechanisms to cure
  • LIA GLYCOLAB4CDG France/Belgium (International Associated Laboratory "Laboratory for the Research on Congenital Disorders of Glycosylation–from cellular mechanisms to cure”)
  • Université de Lille
  • CNRS
  • LIA GLYCOLAB4CDG France/Belgium (International Associated Laboratory “Laboratory for the Research on Congenital Disorders of Glycosylation
  • Lille University of Science and Technology

External person

Brenna Boyd

  • University of Washington
  • PNW Research Station

External person

Shamima Rahman

  • University College London
  • Mitochondrial Research Group
  • Department of Metabolic Medicine
  • Clinical and Molecular Genetics Unit
  • Newcastle University

External person

Arjan P.M. de Brouwer

  • Radboud University Nijmegen
  • Medical Center
  • RUNMC

External person

Christina Lam

  • University of Washington
  • Children's Hospital and Regional Medical Center Seattle
  • Seattle Children's Research Institute
  • Seattle Children’s Research Institute
  • PNW Research Station

External person

G. Matthijs

  • University of Leuven, U.Z. Gasthuisberg
  • KU Leuven
  • Center for Human Genetics
  • Department of Pediatrics
  • Laboratory for Molecular Diagnosis
  • Center for Human Genetics
  • Centre for Human Genetics
  • Department of Human Genetics
  • LIA GLYCOLAB4CDG France/Belgium (International Associated Laboratory Laboratory for the Research on Congenital Disorders of Glycosylation - from cellular mechanisms to cure
  • LIA GLYCOLAB4CDG France/Belgium (International Associated Laboratory "Laboratory for the Research on Congenital Disorders of Glycosylation–from cellular mechanisms to cure”)
  • Center for Human Genetics
  • Department of Human Genetics

External person

Henk ter Laak

  • Medical Sciences University of Nijmegen
  • University of Nijmegen
  • Radboud University Nijmegen
  • Department of Neurology Faculty
  • University of Ioannina
  • Department of Pediatrics
  • Department of Epidemiology
  • NCMD
  • Dept. of Neurology
  • Department of Neurology
  • Department of Pathology and Neurology
  • Pathology Department
  • Donders Institute for Brain
  • Department of Pediatrics

External person

Ruqaia Altassan

  • KU Leuven
  • Department of Pediatrics
  • Department of Development and Regeneration
  • Medical Genetic Department
  • Montreal Children's Hospital
  • McGill University
  • King Faisal Specialist and Research Hospital
  • Department of Medical Genetics
  • Metabolic Center
  • Department of Medical Genetics
  • King Faisal Specialist Hospital and Research Centre
  • Alfaisal University

External person

Hugo J. Bellen

  • Jan and Dan Duncan Neurological Research Institute
  • Department of Molecular and Human Genetics
  • Program in Developmental Biology
  • Baylor College of Medicine
  • Department of Neuroscience
  • BCM
  • Howard Hughes Medical Institute
  • Texas Children's Hospital
  • Texas Children's Hospital Houston

External person

Graem Preston

  • Hayward Genetics Center
  • Tulane University
  • Hayward Genetics Center
  • Mayo Clinic Rochester, MN
  • Clinical Genomics

External person

Gert Matthijs

  • KU Leuven
  • LIA GLYCOLAB4CDG France/Belgium (International Associated Laboratory "Laboratory for the Research on Congenital Disorders of Glycosylation–from cellular mechanisms to cure”)
  • Center for Human Genetics
  • Department of Pediatrics

External person

Dulce Quelhas

  • Biochemical Genetics Unit
  • Centro Hospitalar do Porto
  • Institute of Medical Genetics Jacinto de Magalhães
  • Centro Hospitalar do Porto
  • Unidade de Bioquímica Genética
  • CIBERER
  • Unidade de Bioquímica Genética
  • University of Porto
  • Centro Hospitalar Universitário do Porto
  • Centro Hospitalar Universitário do Porto

External person

Sunnie Yan Wai Wong

  • Hayward Genetics Center
  • Tulane University
  • Hayward Genetics Center
  • Stanford University

External person

Björn Fischer

  • Charité – Universitätsmedizin Berlin
  • Max-Planck-Institut fuer Molekulare Genetik
  • Max Planck Institute for Molecular Genetics
  • Institute of Medical Genetics and Human Genetics
  • Institut of Medical Genetics

External person

Simone Funke

  • Hayward Genetics Center
  • Tulane University
  • Department of Obstetrics and Gynecology
  • University of Pecs
  • Department of Neonatology
  • Klin. fur Gynakol./Frauenheilkunde
  • Universität Pécs
  • Department of Obstetrics and Gynaecology

External person

Francjan J. Van Spronsen

  • University of Groningen
  • Section of Molecular Metabolism and Nutrition

External person

Johannes Zschocke

  • Innsbruck Medical University
  • Division of Human Genetics

External person

M. R. Marble

  • LSUHCS and Children's Hospital
  • Children's Hospital of New Orleans
  • Tulane University
  • Department of Human Genetics and Pediatrics
  • Louisiana State University Health Sciences Center
  • Department of Pediatrics
  • Human Genetics Program
  • Hayward Genetics Center
  • Human Genetics Program
  • Children's Hospital New Orleans

External person

Frits A. Wijburg

  • University of Amsterdam
  • Academic Medical Center
  • University of Amsterdam
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Pediatrics
  • Heidelberg University 
  • Department of General Pediatrics
  • Amsterdam University Medical Center De Boelelaan 1117 1081HV Amsterdam

External person

Mirian C.H. Janssen

  • Department of Internal Medicine
  • Radboud University Nijmegen
  • Institute for Genetic and Metabolic Disease
  • Department of Pediatrics

External person

Euan Ashley

  • United States Army
  • Stanford University
  • School of Medicine
  • Department of Family Medicine
  • Division of Cardiovascular Medicine
  • School of Medicine
  • Division of Cardiovascular Medicine
  • Stanford University

External person

Peter van Hasselt

  • Utrecht University
  • Department of Metabolic Diseases
  • Department of Metabolic Diseases
  • Department of Pediatrics
  • Academic Medical Centre Utrecht

External person

Lynne A. Wolfe

  • University of Pittsburgh School of Medicine
  • University of Pittsburgh
  • National Institutes of Health, Bethesda
  • Department of Genetics
  • National Institutes of Health
  • Yale University
  • Faculty for the North American Metabolic Academy (NAMA
  • Departments of Pediatrics
  • Department of Pediatrics

External person

Carlo Dionisi-Vici

  • Division of Metabolism
  • IRCCS Ospedale pediatrico Bambino Gesù - Roma
  • Unit of Metabolism

External person

Anna Ligezka

  • Mayo Clinic Rochester, MN
  • Jagiellonian University Medical College
  • Jagiellonian University in Kraków

External person

Sharita Timal

  • Radboud University Nijmegen
  • Translational Metabolic Laboratory
  • Department of Neurology
  • Department of Laboratory Medicine

External person

Patrick Allard

  • University of California at Los Angeles

External person

Heidi Cope

  • Duke University
  • Duke Hospital
  • Duke
  • Duke Nashville

External person

Miao He

  • University of Pittsburgh School of Medicine
  • Children's Hospital of Pittsburgh
  • Emory University
  • University of Pittsburgh
  • Mayo Clinic Rochester, MN
  • Palmieri Metabolic Disease Laboratory
  • University of Pennsylvania
  • Department of Medical Genetics
  • Perelman School of Medicine
  • Department of Pathology and Laboratory Medicine
  • Departments of Pediatrics
  • Department of Human Genetics
  • Department of Pediatrics
  • Division of Laboratory Medicine

External person

Tim Emmerzaal

  • Radboud University Nijmegen
  • Department of Anatomy
  • Department of Anatomy
  • Mayo Clinic Rochester, MN

External person

Frans A. Hol

  • Radboud University Nijmegen
  • Dept. of Human Genetics
  • Nijmegen Ctr. Mitochondrial Disorder
  • Department of Human Genetics
  • Department of Human Genetics

External person

Daisy Rymen

  • Department of Pediatrics
  • KU Leuven
  • Department of Pediatrics
  • Centre for Human Genetics
  • University of Zurich

External person

Zsolt Urban

  • Campus Box 8208
  • University of Hawai'i at Mānoa
  • Washington University St. Louis
  • Mayo Clinic Rochester, MN
  • Department of Pediatrics
  • Department of Genetics
  • Pacific Biomedical Research Center
  • University of Pittsburgh
  • Department of Human Genetics
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Pediatrics and Genetics
  • Department of Medicine
  • Department of Pediatrics
  • Department of Genetics
  • Rutgers - The State University of New Jersey, New Brunswick

External person

Gabriel F. Batzli

  • National Institutes of Health

External person

Jennefer N. Kohler

  • Stanford University
  • Stanford

External person

Pengfei Liu

  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • BCM
  • Department of Molecular and Human Genetics
  • Baylor Genetics, LLC

External person

Hana Hansikova

  • Department of Pediatrics and Adolescent Medicine
  • Charles University
  • Department of Pediatrics and Adolescent Medicine

External person

Wolfgang Sperl

  • Department of Paediatrics
  • Paracelsus Private Medical University
  • Innsbruck Medical University
  • Clinic for Pediatrics

External person

Wasantha K. Ranatunga

  • Mayo Clinic College of Medicine
  • Mayo Clinic College of Medicine and Science
  • Mayo Clinic Rochester, MN
  • Department of Physiology and Biomedical Engineering, Mayo Clinic College of Medicine
  • Department of Pediatric and Adolescent Medicine

External person

Rita Barone

  • Pediatric Neurology
  • University of Catania

External person

Camille L. Birch

  • HudsonAlpha Institute of Biotechnology
  • HudsonAlpha Institute for Biotechnology

External person

K. Hadzsiev

  • Medical Faculty
  • University of Pecs
  • Department of Medical Genetics
  • Department of Human Genetics and Pediatrics
  • Pécsi Tudományegyetem
  • Dept. Med. Genet. and Child Devmt.
  • Radboud University Nijmegen

External person

Livia Kapusta

  • Pediatric Cardiology Unit
  • Radboud University Nijmegen
  • Department of Pediatrics
  • Edith Wolfson Medical Center Israel
  • Department of Pediatric Cardiology
  • Children's Heart Centre
  • Schneider Children's Medical Centre of
  • Heart Institute

External person

Gerry Steenbergen

  • Translational Metabolic Laboratory
  • Radboud University Nijmegen
  • Department of Laboratory Medicine

External person

William J. Craigen

  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Pediatrics
  • Division of Genetics
  • BCM
  • BCM
  • Texas Children's Hospital Houston

External person

Stefan Mundlos

  • Max Planck Institute for Molecular Genetics
  • Charité – Universitätsmedizin Berlin
  • Max-Planck-Institut fuer Molekulare Genetik
  • Institut of Medical Genetics
  • Institute of Medical Genetics
  • Research Group Development and Disease

External person

Manuel Schiff

  • Université Paris 7
  • Reference Center for Inborn Errors of Metabolism
  • Hôpital Robert Debré AP-HP
  • Université Paris Cité

External person

Verena Peters

  • Heidelberg University 
  • Centre for Paediatric and Adolescence Medicine
  • Center for Child and Adolescent Medicine

External person

Angel Ashikov

  • Radboud University Nijmegen
  • Translational Metabolic Laboratory
  • Department of Neurology
  • Department of Cellular Chemistry
  • Hannover Medical School
  • Department of Laboratory Medicine

External person

Hongzheng Dai

  • Baylor College of Medicine
  • BCM
  • BCM
  • Baylor Genetics, LLC

External person

Lihadh AlGazali

  • United Arab Emirates University
  • Departments of Paediatrics and Pathology
  • Department of Pediatrics
  • Department of Pathology
  • Department of Pediatrics

External person

Suzanne Boyer

  • Mayo Clinic Rochester, MN

External person

Ludwig Lehle

  • Department of Cell Biology and Plant Biology
  • University of Regensburg
  • Universität Regensburg

External person

Dorinda Marques-Da-Silva

  • UCIBIO
  • Portuguese Association for CDG
  • NOVA University Lisbon
  • CDG & Allies – Professionals and Patient Associations International Network (CDG & Allies – PPAIN)
  • UCIBIO
  • University of Lisbon
  • CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies - PPAIN)
  • Institutional Address: Glycoimmunology Group Lab 3.19
  • Portuguese Association for Congenital Disorders of Glycosylation (CDG)

External person

Rita Francisco

  • UCIBIO
  • Portuguese Association for CDG
  • NOVA University Lisbon
  • CDG & Allies – Professionals and Patient Associations International Network (CDG & Allies – PPAIN)
  • UCIBIO
  • University of Lisbon
  • CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies - PPAIN)
  • Institutional Address: Glycoimmunology Group Lab 3.19
  • Portuguese Association for Congenital Disorders of Glycosylation (CDG)

External person

Hans Van Bokhoven

  • Radboud University Nijmegen
  • Department of Human Genetics, Radboud University Nijmegen Medical Centre
  • Donders Institute for Brain
  • Department of Human Genetics
  • Department of Human Genetics
  • Department of Human Genetics
  • Donders Institute for Brain
  • Department of Human Genetics
  • Department of Cognitive Neuroscience
  • Department of Human Genetics
  • Dept. of Human Genetics
  • Donders Institute for Brain
  • Centre for Neuroscience
  • RUNMC
  • Department of Human Genetics
  • Department of Neurology and Translational Metabolic Laboratory

External person

C. Pascoal

  • CDG & Allies – Professionals and Patient Associations International Network (CDG & Allies – PPAIN)
  • UCIBIO
  • NOVA University Lisbon
  • Portuguese Association for CDG
  • UCIBIO
  • University of Lisbon
  • CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies - PPAIN)
  • Institutional Address: Glycoimmunology Group Lab 3.19
  • Portuguese Association for Congenital Disorders of Glycosylation (CDG)

External person

G. Tóth

  • University of Pecs
  • Medical Faculty
  • Dept. Med. Genet. and Child Devmt.
  • Department of Pediatrics

External person

Antoon J.M. Janssen

  • Department of Pediatrics and Laboratory of Pediatrics and Neurology
  • Radboud University Nijmegen
  • Nijmegen Ctr. Mitochondrial Disorder
  • Laboratory of Paediatrics and Neurology
  • Dept. of Pediatrics
  • Department of Pediatrics
  • Nijmegen Centre for Mitochondrial Disorders
  • Lab. Kindergeneeskunde en Neurologie

External person

G. C. Korenke

  • Elisabeth Kinderkrankenhaus
  • Department of Pediatrics
  • Klinikum Oldenburg
  • Department of Neuropediatrics
  • Klinik für Neuropädiatrie U. Angeborene
  • Zentrum für Kinder-und Jugendmedizin (Elisabeth Kinderkrankenhaus)
  • University of Oldenburg
  • Klinikum Oldenburg
  • Children's Hospital

External person

Carlos R. Ferreira

  • Division of Genetics and Metabolism
  • Children's National Medical Center
  • National Institutes of Health

External person

B. G M Van Engelen

  • University Hospital Nijmegen
  • Department of Immunology
  • Radboud University Nijmegen
  • Washington University St. Louis
  • Department of Immunology
  • Institute of Molecular Biosciences
  • University of Graz
  • Department of Neurology
  • Dept. of Neurology
  • Mayo Clinic Rochester, MN
  • Laboratory of Pediatrics and Neurology (319)
  • Department of Neurology
  • Department of Neurology
  • Department of Immunology, Mayo Clinic
  • Division of Immunology and Neurology

External person

Marinette Van Der Graaf

  • Department of Radiology
  • Radboud University Nijmegen
  • Department of Pediatrics
  • Department of Radiology

External person

Adriaan G. Holleboom

  • Department of Vascular Medicine
  • University of Amsterdam
  • Department of Vascular Medicine
  • University of Oregon
  • Amsterdam University Medical Center De Boelelaan 1117 1081HV Amsterdam

External person

Ellyze Van Asbeck

  • Hayward Genetics Center and Department of Pediatrics
  • Radboud University Nijmegen
  • Tulane University
  • Department of Pediatrics
  • Hayward Genetics Center
  • Hayward Genetics Center
  • Laboratory of Genetic Endocrine and Metabolic Diseases

External person

Friederike Hörster

  • Department of General Pediatrics
  • Heidelberg University 
  • Department of General Pediatrics

External person

Olaf Bodamer

  • University of Miami Miller School of Medicine
  • University of Miami
  • The Dr. John T. Macdonald Foundation
  • Department of Paediatrics
  • Medical University of Vienna
  • Dr. John T. Macdonald Foundation
  • Broad Institute
  • Harvard University
  • Department of Medicine
  • Bascom Palmer Eye Institute and Human Genomics
  • Division of Genetics and Genomics

External person

H. C. Andersson

  • Tulane University
  • Hayward Genetics Center
  • Human Genetics Program

External person

Oguz Kanca

  • Department of Molecular and Human Genetics
  • Baylor College of Medicine
  • Texas Children's Hospital Houston

External person

Katrin Õunap

  • Department of Genetics
  • University of Tartu
  • Department of Clinical Genetics
  • Department of Clinical Genetics
  • Broad Institute
  • Department of Pediatrics

External person

Anibh M. Das

  • Hannover Medical School
  • Department of Paediatrics II
  • Department of Pediatric Kidney
  • Children's Hospital

External person

Hanna Mandel

  • Metabolic Unit and Unit of Pediatric Cardiology
  • Technion-Israel Institute of Technology
  • Rambam Health Care Campus Israel
  • Department of Pediatrics
  • Metabolic Unit
  • Metabolic Unit
  • Department of Pediatrics

External person

Rebecca C. Spillmann

  • Duke Hospital
  • Duke University
  • Duke
  • Duke Nashville

External person

Elizabeth A. Burke

  • National Institutes of Health

External person

Rolph Pfundt

  • Radboud University Nijmegen
  • Department of Human Genetics
  • University of Ioannina
  • Department of Pediatrics
  • Donders Institute for Brain
  • Centre for Neuroscience
  • Department of Neurology
  • Department of Human Genetics, Radboud University Nijmegen Medical Centre
  • Radboudumc

External person

Jan M. Verheijen

  • Radboud University Nijmegen
  • Department of Anatomy
  • Flanders Institute for Biotechnology
  • Neurodegenerative Brain Diseases Group
  • University of Antwerp
  • Mayo Clinic Rochester, MN
  • Clinical Genomics

External person

María Palomares-Bralo

  • Universidad Autónoma de Madrid
  • Instituto de Salud Carlos III
  • CIBER - Center for Biomedical Research Network

External person

Alica Goldman

  • Baylor College of Medicine
  • Peter Kellaway Section of Neurophysiology in Neurology
  • Augusta University (A.M.M.
  • BCM
  • BCM

External person

Aikaterini Dimopoulou

  • Charité – Universitätsmedizin Berlin
  • Institut of Medical Genetics

External person

Eckhard Korsch

  • University of Cologne
  • Pediatric Hospital

External person

Niklas Darin

  • Department of Pediatrics
  • Queen Silvia Children's Hospital
  • Department of Pediatrics
  • University of Gothenburg

External person

Lionel Van Maldergem

  • Université de Franche-Comté
  • Centre de Génétique Humaine
  • University of Liege
  • Centre de Génétique Humaine
  • Centre for Human Genetics
  • Debré Type Study Group
  • Human Genetic Centre

External person

Tamás Illés

  • University of Pecs
  • Medical Faculty

External person

David F.G.J. Wolthuis

  • Hayward Genetics Center and Department of Pediatrics
  • Radboud University Nijmegen
  • Tulane University
  • Department of Pediatrics
  • Hayward Genetics Center
  • Laboratory of Genetic Endocrine and Metabolic Diseases

External person

René Santer

  • University Medical Center Hamburg-Eppendorf
  • University Children's Hospital
  • University of Hamburg
  • Department of Pediatrics
  • University Medical Center Hamburg-Eppendorf

External person

Nathalie Seta

  • Université Paris 7
  • Biochemistry Department
  • Biochemistry Department
  • Université Paris 5
  • Université Paris Cité

External person

Vanessa Dos Reis Ferreira

  • CDG & Allies – Professionals and Patient Associations International Network (CDG & Allies – PPAIN)
  • Portuguese Association for CDG
  • UCIBIO
  • NOVA University Lisbon
  • CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies - PPAIN)
  • Portuguese Association for Congenital Disorders of Glycosylation (CDG)

External person

Fariha Jamal

  • Baylor College of Medicine
  • BCM
  • BCM

External person

Bobby G. Ng

  • Sanford Burnham Medical Research Institute
  • Sanford-Burnham Medical Research Institute
  • Sanford Burnham Prebys Medical Discovery Institute
  • Sanford Children's Health Research Centre
  • Genetic Disease Program

External person

Austin A. Larson

  • University of Colorado Anschutz Medical Campus
  • University of Colorado Denver
  • University of Pennsylvania

External person

Alberto Burlina

  • Division of Inherited Metabolic Diseases
  • Azienda Ospedaliera di Padova
  • Department of Pediatrics

External person

Erica L. Macke

  • Mayo Clinic Rochester, MN
  • Center for Individualized Medicine, Mayo Clinic
  • Center for Individualized Medicine
  • Mayo Clinic College of Medicine and Science

External person

Matthew T. Wheeler

  • Stanford University
  • Stanford
  • Stanford Center for Undiagnosed Diseases

External person

Hsiao Tuan Chao

  • Baylor College of Medicine
  • Department of Neuroscience
  • Jan and Dan Duncan Neurological Research Institute
  • Department of Pediatrics
  • BCM
  • The Robert and Janice McNair Foundation
  • BCM
  • Texas Children's Hospital Houston

External person

Therese Gadomski

  • Hayward Genetics Center
  • Tulane University
  • Hayward Genetics Center

External person

Ariana Kariminejad

  • Kariminejad-Najmabadi Pathology & Genetics Center
  • Kariminejad-Najmabadi Pathology & Genetics Center

External person

C. Toro

  • National Institutes of Health, National Human Genome Research Institute
  • NIH
  • National Institutes of Health, Bethesda
  • National Cancer Institute United States
  • National Institutes of Health
  • Office of the Clinical Director
  • Undiagnosed Diseases Program
  • Office of the Director

External person

Nathalie Guffon

  • Centre de Référence des Maladies Héréditaires du Métabolisme
  • Hôpital Femme Mère Enfant
  • Hôpital Femme Mère Enfant
  • Centre de Référence des Maladies Héréditaires du Métabolisme
  • Centre de Référence des Maladies Héréditaires du Métabolisme
  • Hôpital Femme Mère Enfant
  • Hôpital Édouard Herriot
  • Hospices civils de Lyon
  • Centre Léon Bérard

External person

P. J. Coucke

  • Ghent University Hospital
  • Ghent University
  • Great Ormond Street Hospital
  • University College London
  • Department of Medical Genetics

External person

Tobias B. Haack

  • Institute of Medical Genetics and Applied Genomics
  • Institute of Human Genetics
  • Technical University of Munich
  • University of Tübingen
  • Helmholtz Zentrum München - German Research Center for Environmental Health
  • Institute of Human Genetics
  • Institute of Medical Genetics and Applied Genomics

External person

Lefkothea Karaviti

  • Baylor College of Medicine
  • BCM
  • BCM

External person

Gary D. Clark

  • Baylor College of Medicine
  • BCM
  • BCM

External person

David Bick

  • Medical College of Wisconsin
  • Department of Pediatrics
  • HudsonAlpha Institute for Biotechnology

External person

Hulya Kayserili

  • Istanbul University
  • Istanbul University
  • Medical Genetics Department
  • Department of Medical Genetics
  • Istanbul University Cerrahpaşa

External person

Saskia Koene

  • Radboud University Nijmegen
  • Dept. of Pediatrics
  • Department of Pediatrics
  • Nijmegen Center for Mitochondrial Disorders
  • Department of Pediatrics
  • Nijmegen Center for Mitochondrial Disorders

External person

Vandana Shashi

  • Duke University
  • Duke Hospital
  • Duke
  • Duke Nashville

External person

Shawn Tahata

  • Mayo Clinic Rochester, MN
  • Division of Hematology
  • Clinical Genomics

External person

N. A. Hanchard

  • Baylor College of Medicine
  • Mayo Clinic Rochester, MN
  • Department of Pediatric and Adolescent Medicine
  • BCM
  • BCM

External person

Gepke Visser

  • Utrecht University
  • Department of Pediatrics

External person

Jeroen Van Reeuwijk

  • Radboud University Medical Centre
  • Radboud University Nijmegen
  • Department of Human Genetics
  • Department of Human Genetics
  • Department of Human Genetics
  • Dept. of Human Genetics

External person

Fransiska Malfait

  • Ghent University
  • KU Leuven
  • Department of Pediatrics

External person

Ivo Barić

  • Department of Pediatrics
  • University of Zagreb
  • Department of Pediatrics

External person

Kimberly Leblanc

  • Harvard University
  • Harvard
  • Harvard

External person

M. Estela Rubio-Gozalbo

  • Departments of Paediatrics
  • Maastricht University

External person

Cynthia J. Tifft

  • Children's National Medical Center
  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • Office of the Clinical Director
  • Undiagnosed Diseases Program
  • Office of the Director
  • Children's National Medical Center

External person

David Coman

  • University of Queensland
  • Lady Cilento Children's Hospital
  • School of Medicine, University of Queensland
  • Children’s Health Queensland
  • CDG & Allies – Professionals and Patient Associations International Network (CDG & Allies – PPAIN)
  • Queensland Children's Hospital
  • Queensland Children’s Hospital

External person

Daisy Dalloyaux

  • Radboud University Nijmegen
  • Department of Pediatrics
  • Translational Metabolic Laboratory

External person

Amber Begtrup

  • GeneDX Inc

External person

M. A. Al-Owain

  • King Faisal Specialist Hospital and Research Centre
  • Alfaisal University
  • Department of Anatomy and Cell Biology
  • Department of Medical Genetics
  • Department of Genetics

External person

E. M. Maier

  • Ludwig Maximilian University of Munich

External person

Miranda Theodore

  • Department of Pediatrics
  • Institute for Genetic and Metabolic Disease
  • Radboud University Nijmegen

External person

E. Pronicka

  • Children's Memorial Health Institute
  • Children's Memorial Health Institute
  • Department of Pediatrics
  • Department of Metabolic Diseases
  • Department of Metabolic Diseases

External person

Ulrich Brandt

  • Radboud Center for Mitochondrial Medicine
  • Medical Center
  • Radboud University Nijmegen
  • Translational Metabolic Laboratory
  • Department of Pediatrics

External person

Sandra Brasil

  • UCIBIO
  • NOVA University Lisbon
  • CDG & Allies – Professionals and Patient Associations International Network (CDG & Allies – PPAIN)
  • Portuguese Association for CDG
  • Institutional Address: Glycoimmunology Group Lab 3.19
  • CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies - PPAIN)
  • Portuguese Association for Congenital Disorders of Glycosylation (CDG)

External person

Karin Naess

  • Department of Pediatric Neurology
  • Karolinska Institutet

External person

Hudson Freeze

  • Sanford Burnham Prebys Medical Discovery Institute
  • Mayo Clinic Rochester, MN

External person

Anna Cechova

  • Charles University
  • Department of Pediatrics and Adolescent Medicine

External person

Rob C.A. Sengers

  • Department of Pediatrics and Laboratory of Pediatrics and Neurology
  • Radboud University Nijmegen
  • Department of Pediatrics
  • Dept. of Pediatrics
  • Department of Pediatrics
  • Nijmegen Centre for Mitochondrial Disorders

External person

Han G. Brunner

  • Radboud University Nijmegen
  • Radboud University Medical Centre
  • Sint Radboud Ziekenhuis
  • Maastricht University
  • University of New South Wales
  • Department of Human Genetics, Radboud University Nijmegen Medical Centre
  • Dementia Collaborative Research Centre-Assessment and Better Care
  • Donders Institute for Brain
  • Department of Human Genetics
  • Department of Clinical Genetics
  • DNA Diagnostics
  • Department of Pediatrics
  • Dept. of Human Genetics
  • Department of Human Genetics
  • Department of Human Genetics
  • Department of Clinical Genetics
  • Leiden University
  • Department of Human Genetics
  • Donders Institute for Brain

External person

Gabrielle Gillessen-Kaesbach

  • Institute for Human Genetics
  • University of Lübeck
  • Universitätsklinikum Schleswig-Holstein Campus Lübeck
  • University of Duisburg-Essen
  • Institut fur Humangenetik

External person

Johannes A. Mayr

  • Paracelsus Private Medical University
  • Department of Paediatrics

External person

Kelly Schoch

  • Department of Pediatrics
  • Duke University
  • Duke Hospital
  • Duke
  • Duke Nashville

External person

Lauren Gunderson

  • Mayo Clinic Rochester, MN
  • Clinical Genomics

External person

Majid Alfadhel

  • Division of Genetics
  • King Saud bin Abdulaziz University for Health Sciences
  • King Abdulaziz Medical City- Riyadh
  • Division of Genetics
  • Ministry of National Guard – Health Affairs

External person

Karthik Muthusamy

  • Mayo Clinic Rochester, MN
  • Clinical Genomics

External person

Frans J.M. Trijbels

  • Radboud University Nijmegen
  • Department of Pediatrics and Laboratory of Pediatrics and Neurology
  • Department of Pediatrics
  • Laboratory of Paediatrics and Neurology
  • Department of Pediatrics
  • Nijmegen Centre for Mitochondrial Disorders

External person

Marije Hogeveen

  • Radboud University Nijmegen
  • Nijmegen Center for Mitochondrial Disorders
  • Department of Pediatrics
  • Department of Pediatrics

External person

Liliana Fernandez

  • Stanford University
  • Stanford
  • Stanford Center for Undiagnosed Diseases

External person

Bert B A De Vries

  • Radboud University Nijmegen Medical Center
  • Radboud University Nijmegen
  • University of Ioannina
  • Department of Pediatrics
  • Department of Human Genetics, Radboud University Nijmegen Medical Centre
  • Department of Neurology
  • Department of Neurology and Translational Metabolic Laboratory

External person

Diego Martinelli

  • Division of Metabolism
  • IRCCS Ospedale pediatrico Bambino Gesù - Roma
  • Unit of Metabolism

External person

Anna Alkelai

  • Columbia University

External person

Christina G.S. Palmer

  • University of California at Los Angeles

External person

E. Bertini

  • Fondazione Policlinico Universitario Agostino Gemelli IRCCS
  • IRCCS Ospedale pediatrico Bambino Gesù - Roma
  • Unit of Molecular Medicine
  • Laboratory of Molecular Medicine
  • Catholic University of the Sacred Heart

External person

Chris Verhaak

  • Department of Pediatric Psychology
  • Radboud University Nijmegen
  • Department of Medical Psychology
  • Department of Medical Psychology
  • Department of Medical Psychology

External person

Sergio Guerrero-Castillo

  • Radboud Center for Mitochondrial Medicine
  • Medical Center
  • Radboud University Nijmegen
  • Translational Metabolic Laboratory
  • Department of Pediatrics

External person

Seema R. Lalani

  • Department of Molecular and Human Genetics
  • Baylor College of Medicine
  • Medical Genetics Laboratories (MGL)
  • BCM
  • BCM
  • Texas Children's Hospital Houston

External person

Sanne van Kraaij

  • Radboud University Nijmegen
  • Translational Metabolic Laboratory
  • Department of Pediatrics

External person

Agata Fiumara

  • Pediatric Neurology
  • University of Catania

External person

Anita Rauch

  • University of Zurich
  • ETH/University of Zurich

External person

Peter Freisinger

  • Department of Pediatrics
  • Inherited Metabolic Disease Centre
  • Childrens Hospital
  • Children's Hospital
  • Childrens’ Hospital

External person

David R. Murdock

  • Department of Molecular and Human Genetics
  • Baylor College of Medicine
  • Human Genome Sequencing Center
  • BCM
  • BCM

External person

Christian Gilissen

  • Radboud University Medical Center
  • Radboud University Nijmegen
  • Department of Human Genetics, Radboud University Nijmegen Medical Centre
  • RUNMC
  • Department of Human Genetics
  • Mayo Clinic Rochester, MN

External person

S. Kölker

  • Heidelberg University 
  • Department of General Pediatrics
  • Division of Metabolic Diseases

External person

Fernando Santos-Simarro

  • Universidad Autónoma de Madrid
  • CIBER - Center for Biomedical Research Network

External person

Gabrielle Brown

  • University of California at Los Angeles

External person

Pirjo Isohanni

  • Clinic Group of Pediatric Neurology
  • University of Helsinki
  • Biomedicum

External person

S. Odent

  • CNRS
  • Service de Génétique Clinique
  • CHU de Rennes
  • École nationale supérieure de chimie de Rennes
  • Institut de Génétique et Développement de Rennes
  • Hôpital Sud

External person

Chloe M. Reuter

  • Stanford University
  • Stanford

External person

Can H. Ficicioglu

  • Children's Hospital of Philadelphia
  • University of Pennsylvania
  • Division of Oncology
  • Division of Pediatrics
  • Mayo Clinic Rochester, MN

External person

M. Pierce

  • Tulane Medical School New Orleans
  • Tulane University
  • Department of Pediatrics/Neonatology
  • Human Genetics Program

External person

Anne Slavotinek

  • University of California at San Francisco
  • Department of Pediatrics

External person

Romain Peanne

  • KU Leuven
  • Centre for Human Genetics
  • LIA GLYCOLAB4CDG France/Belgium (International Associated Laboratory Laboratory for the Research on Congenital Disorders of Glycosylation - from cellular mechanisms to cure
  • LIA GLYCOLAB4CDG France/Belgium (International Associated Laboratory "Laboratory for the Research on Congenital Disorders of Glycosylation–from cellular mechanisms to cure”)
  • Center for Human Genetics
  • Department of Human Genetics
  • LIA GLYCOLAB4CDG (International Associated Laboratory “Laboratory for the Research on Congenital Disorders of Glycosylation-from Cellular Mechanisms to Cure”

External person

Felix Distelmaier

  • Department of General Pediatrics
  • Heinrich Heine University Düsseldorf
  • Department of General Pediatrics

External person

Konrad Platzer

  • Leipzig University
  • Institute of Human Genetics
  • Institute of Human Genetics

External person

Bernd C. Schwahn

  • University Children's Hospital Düsseldorf
  • Department of General Pediatrics
  • Heinrich Heine University Düsseldorf
  • Clinic for General Pediatrics
  • Department of General Pediatrics
  • Department of General Pediatrics
  • Department of General Pediatrics

External person

Paula A. Videira

  • Institutional Address: Glycoimmunology Group Lab 3.19
  • NOVA University Lisbon
  • UCIBIO
  • CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies - PPAIN)

External person

Richard A. Lewis

  • Baylor College of Medicine
  • BCM
  • BCM
  • Texas Children's Hospital Houston

External person

J. R M Cruysberg

  • University Hospital Nijmegen
  • Radboud University Nijmegen
  • Washington University St. Louis
  • Department of Ophthalmology
  • Department of Ophthalmology
  • Mayo Clinic Rochester, MN
  • Division of Immunology and Neurology

External person

Ronit Marom

  • Baylor College of Medicine
  • BCM
  • BCM
  • Texas Children's Hospital Houston

External person

Stephen P. Robertson

  • Department of Women's and Children's Health
  • University of Otago
  • Department of Paediatrics and Child Health
  • Department of Pediatrics
  • University of Oxford

External person

R. Zeevaert

  • Center for Human Genetics
  • KU Leuven
  • Department of Human Genetics
  • Jessa Hospital
  • Department of Human Genetics

External person

Emily G. Kelley

  • Harvard University
  • Harvard
  • Harvard
  • Color Genomics

External person

Federic Tort

  • August Pi i Sunyer Biomedical Research Institute
  • University of Barcelona

External person

Marta Pacio-Míguez

  • Universidad Autónoma de Madrid

External person

Shanti Balasubramaniam

  • Western Sydney Genetics Program
  • Discipline of Genetic Medicine & Paediatrics and Child Health
  • University of Sydney
  • Genetic Metabolic Disorders Service
  • Discipline of Paediatrics & Child Health
  • Discipline of Genetic Medicine
  • University of Sydney Faculty of Medicine
  • Kuala Lumpur Hospital
  • The Children's Hospital at Westmead

External person

Joy D. Cogan

  • Vanderbilt University Medical Center
  • Department of Pediatrics
  • VA Medical Center
  • Vanderbilt University
  • Department of Pediatrics
  • Vanderbilt Clinic

External person

David A. Koolen

  • Radboud University Nijmegen
  • Department of Human Genetics, Radboud University Nijmegen Medical Centre
  • Institute for Genetic and Metabolic Disease
  • Department of Human Genetics
  • Department of Neurology and Translational Metabolic Laboratory

External person

Christopher Lau

  • Memorial Sloan Kettering Cancer Center
  • Memorial Sloan-Kettering Cancer Center
  • Department of Pathology
  • National Institutes of Health
  • Undiagnosed Diseases Network

External person

Lisenka E L M Vissers

  • Radboud University Nijmegen
  • RUNMC
  • Institute of Genetic and Metabolic Disease (IGMD)
  • Department of Human Genetics
  • Institute for Genetic and Metabolic Disease
  • Department of Human Genetics
  • Department of Neurology
  • Department of Human Genetics, Radboudumc
  • Radboudumc

External person

Christin Johnsen

  • Mayo Clinic Rochester, MN

External person

William A. Gahl

  • National Institutes of Health
  • NHGRI

External person

Marketa Tesarova

  • Department of Pediatrics and Adolescent Medicine
  • Charles University
  • Department of Pediatrics

External person

J. H. Walter

  • Willink Unit
  • Royal Manchester Children's Hospital
  • Manchester University NHS Foundation Trust

External person

Judit Bene

  • Department of Medical Genetics
  • Szentagothai Research Center
  • University of Pecs
  • Medical Faculty

External person

Maria J. Guillen Sacoto

  • GeneDX Inc
  • Clinical Genomics Program

External person

Holly K. Tabor

  • University of Washington
  • Section of Neonatology
  • Stanford University
  • Stanford

External person

Rodrigo Tzovenos Starosta

  • Universidade Federal do Rio Grande do Sul
  • School of Medicine
  • Mayo Clinic Rochester, MN
  • Washington University St. Louis

External person

Tim Van Damme

  • Ghent University

External person

Sabine Grønborg

  • Department of Clinical Genetics
  • University of Copenhagen

External person

G. Gökcay

  • Department of Nutrition and Metabolism
  • Istanbul University
  • Medical Faculty Children's Hospital
  • Department of Nutrition and Metabolism

External person

Katharina Steindl

  • University of Zurich
  • ETH/University of Zurich

External person

Christa M. de Geus

  • University of Groningen
  • University of Groningen, University Medical Center Groningen, Department of Genetics

External person

Ellen F. Macnamara

  • National Institutes of Health

External person

Maria Iascone

  • Ospedali Riuniti di Bergamo
  • Laboratorio di Genetica Medica
  • Papa Giovanni XXIII Hospital

External person

Shamima Rahman

  • University College London
  • Innsbruck Medical University

External person

Amanda M. Ackermann

  • Division of Endocrinology and Diabetes
  • University of Pennsylvania
  • Pediatric Endocrinology
  • Division of Oncology

External person

Robert Taylor

  • NEMA Research
  • Newcastle University
  • Mitochondrial Research Group

External person

Judith Fischer

  • Institute of Human Genetics
  • University of Freiburg
  • ComUE Paris-Saclay
  • GENOPOLE
  • Université Paris-Saclay

External person

A. McConkie-Rosell

  • Box 3028
  • Duke University Medical Center
  • Duke University
  • Department of Pediatrics
  • Department of Pediatrics
  • Div. of Pediatric Genetics
  • Department of Pediatrics
  • Department of Pediatrics
  • Duke Hospital
  • Duke
  • Duke Nashville

External person

Zita Krumina

  • Department of Biology and Microbiology
  • Riga Stradins University
  • Children's University Hospital
  • Medical Genetics Clinic
  • Children's University Hospital
  • Medical Genetics Clinic
  • Children's Clinical University Hospital

External person

W. Meersseman

  • Departments of Internal Medicine and Pediatrics
  • KU Leuven
  • Metabolic Center
  • Medical Intensive Care Unit
  • Centre for Metabolic Diseases

External person

Rudy van Coster

  • Ghent University
  • Department of Pediatrics

External person

Elena Levtchenko

  • University Hospitals Leuven
  • KU Leuven
  • Department of Pediatrics
  • Department of Development and Regeneration
  • Department of Pediatric Nephrology
  • Department of Pediatrics

External person

Evangeline Wassmer

  • Birmingham Women's and Children's NHS Foundation Trust
  • Department of Neurology

External person

Gajja S. Salomons

  • Vrije Universiteit Amsterdam
  • Metabolic Unit
  • Metabolic Unit
  • Metabolic Unit
  • VU University Medical Center

External person

Ida V.D. Schwartz

  • Medical Genetics Service
  • Universidade Federal do Rio Grande do Sul
  • School of Medicine
  • BRAin (Basic Research and Advanced Investigations in Neurosciences) Laboratory
  • Medical Genetics Service
  • Department of Genetics
  • Hospital das Clínicas de Porto Alegre
  • Universidade Federal do Rio de Janeiro

External person

Heidi Zweers Van Essen

  • Department of Dietetics
  • Radboud University Nijmegen

External person

Richard Person

  • Department of Molecular and Human Genetics
  • Baylor College of Medicine
  • Baylor Miraca Genetics Laboratories
  • Exome Laboratory
  • Baylor Miraca Genetics Laboratory
  • Whole Genome Laboratory
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Baylor Genetics
  • GeneDX Inc
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Baylor Genetics, LLC
  • Department of Molecular and Human Genetics

External person

Laura E. Schultz-Rogers

  • Mayo Clinic Rochester, MN
  • Department of Health Sciences and Research, Mayo Clinic
  • Center for Individualized Medicine, Mayo Clinic
  • Clinical Genomics
  • Department of Health Science
  • Mayo Clinic College of Medicine and Science
  • University of North Carolina at Chapel Hill
  • Iowa State University

External person

Lance H. Rodan

  • Harvard University
  • Divisions of Genetics and Genomics and Newborn Medicine
  • Department of Pediatrics
  • Division of Genetics and Genomics
  • Harvard
  • Harvard

External person

Julie S. Cohen

  • Division of Neurogenetics
  • Hugo W. Moser Research Institute
  • Kennedy Krieger Institute
  • Johns Hopkins University

External person

B. Kremer

  • University of Groningen
  • Radboud University Nijmegen

External person

Pascal Joset

  • University of Zurich
  • ETH/University of Zurich

External person

An I. Jonckheere

  • Radboud University Nijmegen
  • Department of Pediatrics
  • Laboratory of Paediatrics and Neurology

External person

Maria Lisa Dentici

  • IRCCS Ospedale pediatrico Bambino Gesù - Roma

External person

Dorothy K. Grange

  • Division of Genetics and Genomic Medicine
  • Washington University St. Louis
  • Department of Pediatrics

External person

Nurulamin Abu Bakar

  • Department of Neurology and Translational Metabolic Laboratory
  • Radboud University Nijmegen
  • Department of Neurology
  • Donders Institute for Brain

External person

Elizabeth L. Fieg

  • Harvard University
  • Harvard
  • Harvard

External person

Tiffany Pascreau

  • AP-HP
  • Institut national de la santé et de la recherche médicale
  • Université Paris 5
  • Hôpital Robert Debré AP-HP
  • Université Paris-Saclay
  • Université Paris-Sud
  • Université Paris Cité

External person

F. Tsien

  • Human Genetics Program
  • Tulane University
  • Louisiana State University Health Sciences Center
  • Department of Genetics

External person

Robert McFarland

  • Newcastle General Hospital
  • Department of Paediatric Neurology
  • Newcastle University
  • Mitochondrial Research Group
  • Mitochondrial Research Group
  • Newcastle upon Tyne Hospitals NHS Foundation Trust

External person

Alyssa A. Tran

  • BCM
  • Baylor College of Medicine
  • BCM

External person

Marjan Huizing

  • National Institutes of Health
  • University of Ioannina
  • Department of Pediatrics
  • Medical Genetics Branch

External person

Siavash Ghaderi-Sohi

  • Kariminejad-Najmabadi Pathology & Genetics Center

External person

Donna M. Krasnewich

  • National Institutes of Health

External person

Andrea Superti-Furga

  • Department of Pediatrics
  • University of Lausanne
  • Department of Pediatrics

External person

Ellen Crushell

  • Children's University Hospital, Dublin
  • Academic Centre on Rare Diseases
  • University College Dublin
  • Temple Street Children's University Hospital
  • Children's University Hospital Dublin
  • Children's Health Ireland

External person

H. Michelakakis

  • Department of Enzymology and Cellular Function
  • Institute of Child Health
  • Department of Enzymology and Cellular Function
  • Institute of Child Health
  • Institute of Child Health

External person

Michael F. Wangler

  • Jan and Dan Duncan Neurological Research Institute
  • Department of Molecular and Human Genetics
  • Program in Developmental Biology
  • Baylor College of Medicine
  • BCM
  • Texas Children's Hospital Houston

External person

Emile Van Schaftingen

  • Université catholique de Louvain

External person

Wirginia Krzyściak

  • Jagiellonian University Medical College
  • Jagiellonian University Medical College
  • Jagiellonian University in Kraków

External person

Graciella Uziel

  • University of Milan
  • IRCCS Fondazione Istituto Neurologico Carlo Besta - Milano
  • Department of Child Neurology

External person

Loren D.M. Pena

  • University of Cincinnati
  • Cincinnati Children's Hospital Medical Center

External person

Vincent Cantagrel

  • Howard Hughes Medical Institute
  • University of California at San Diego
  • Neurogenetics Laboratory
  • Howard Hughes Medical Institute
  • Departments of Cellular and Molecular Medicine

External person

T. Zwickler

  • Heidelberg University 
  • Department of General Pediatrics
  • Division of Metabolic Diseases

External person

Mariluce Riegel

  • Institute of Medical Genetics
  • University of Zurich
  • University of Pecs
  • Universidade Federal do Rio Grande do Sul
  • Medical Genetics Service
  • ETH/University of Zurich

External person

Sunnie Wong

  • Tulane University

External person

Nicol C. Voermans

  • Radboud University Nijmegen
  • Department of Neurology

External person

Queenie K.G. Tan

  • Duke University
  • Duke Hospital
  • Duke
  • Duke Nashville

External person

Cecilia Esteves

  • Harvard University
  • Harvard
  • Harvard

External person

Marjolein A.W. Van Den Boogert

  • Department of Vascular Medicine
  • University of Amsterdam
  • Amsterdam University Medical Center De Boelelaan 1117 1081HV Amsterdam

External person

L. Gilbert Vezina

  • Children's National Medical Center

External person

J. M. Aerts

  • University of Amsterdam
  • Department of Medical Biochemistry
  • Leiden University
  • Amsterdam University Medical Center De Boelelaan 1117 1081HV Amsterdam

External person

Henry Houlden

  • University College London
  • 4500 San Pablo Road
  • National Hospital for Neurology and Neurosurgery and UCL Institute of Neurology
  • Institute of Neurology
  • University College London Institute of Neurology
  • National Hospital for Neurology and Neurosurgery
  • Mayo Clinic Jacksonville
  • Natl. Hosp. Neurol. and Neurosurg.
  • Mayo Clinic Jacksonville, FL
  • Department of Molecular Neuroscience
  • Suncoast Alzheimer’s Disease Laboratories
  • Imperial College London
  • Depts. of Biochemistry and Neurology
  • University of South Florida
  • Sobell Department of Motor Neuroscience and Movement Disorders
  • Neurogenetics Department
  • Department of Molecular Neuroscience
  • Medical Research Council
  • Department of Neuroscience, Mayo Clinic
  • Neurogenetics Unit
  • National Hospital for Neurology and Neurosurgery
  • Erasmus University Rotterdam
  • University of Oxford
  • Medical University of Graz

External person

Francis Bowling

  • Biochemical Diseases
  • Mater Children's Hospital
  • Mater Group

External person

Matthew Might

  • University of Alabama at Birmingham
  • Harvard

External person

Chirag Patel

  • Herston
  • Genetic Health Queensland
  • Royal Brisbane and Women's Hospital
  • Herston
  • Post Office Royal Brisbane Hospital

External person

Yasemin Alanay

  • Pediatric Genetics Unit
  • Acibadem Mehmet Ali Aydinlar Universitesi
  • Department of Child Health and Diseases

External person

K. Michael Gibson

  • Rangos Research
  • Institute of Metabolic Disease
  • Washington State University Spokane
  • Southwestern Medical Center
  • Children's Hospital of Pittsburgh
  • University of Pittsburgh
  • Baylor University Medical Center at Dallas
  • University of Texas Southwestern Medical Center
  • College of Pharmacy
  • College of Pharmacy
  • Department of Pathology
  • Departments of Pediatrics
  • Medical Center
  • Baylor University
  • Department of Neurology, University of Texas Southwestern
  • Department of Pathology (Neuropathology), University of Pittsburgh
  • Medical Center
  • Department of Pediatrics
  • Department of Human Genetics

External person

Joana Correia

  • Centro Hospitalar Universitário do Porto
  • Centro de Referência Doenças Hereditárias do Metabolismo - Centro Hospitalar do Porto

External person

Vivienne Verweij

  • Radboud University Nijmegen
  • Department of Anatomy

External person

Károly Méhes

  • Department of Medical Genetics
  • University of Pecs
  • Dept. Med. Genet. and Child Devmt.
  • Department of Pediatrics
  • MTA-POTE Clin. Genet. Research Group
  • Dept. Med. Genet. and Child Devmt.

External person

Mary Alice Abbott

  • Tufts University
  • Department of Pediatrics
  • University of Massachusetts Medical School
  • UMass Chan Medical School

External person

Jennifer E. Posey

  • Department of Molecular and Human Genetics
  • Baylor College of Medicine
  • BCM
  • BCM

External person

Bart Ghesquière

  • KU Leuven
  • Flanders Institute for Biotechnology
  • Metabolomics Expertise Center
  • Laboratory for Translational Genetics

External person

Emmanuelle Ranza

  • Medigenome
  • Medigenome

External person

Shruti Marwaha

  • Stanford Center for Undiagnosed Diseases
  • Stanford
  • Stanford University

External person

M. S. Van Der Knaap

  • Medical Center
  • Department of Child Neurology, VU University Medical Center and Neuroscience Campus
  • Vrije Universiteit Amsterdam
  • Department of Child Neurology
  • Amsterdam University Medical Center De Boelelaan 1117 1081HV Amsterdam
  • VU University Medical Center
  • Amsterdam UMC
  • University of Amsterdam

External person

G. Peters

  • Radboud University Nijmegen
  • Department of Pediatric Physiotherapy
  • Department of Paediatric Physical Therapy

External person

Yusuke Maeda

  • Research Institute for Microbial Diseases
  • Osaka University

External person

Rizwan Hamid

  • Vanderbilt University
  • Vanderbilt Clinic

External person

Brendan H L Lee

  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Howard Hughes Medical Institute
  • Dept. of Molec. and Human Genetics
  • BCM
  • BCM
  • Texas Children's Hospital Houston

External person

Ertan Mayatepek

  • Ruprecht Karls University
  • Heidelberg University 
  • Department of General Pediatrics
  • Heinrich Heine University Düsseldorf
  • Department of General Pediatrics

External person

John Christodoulou

  • University of Sydney
  • University of Melbourne
  • Discipline of Child and Adolescent Health and Genetic Medicine
  • Neurodevelopmental Genomics Research Group
  • Genetic Metabolic Disorders Research Unit and Western Sydney Genetics Program
  • Institute for Neuroscience and Muscle Research
  • Discipline of Genetic Medicine
  • Western Sydney Genetics Program
  • Department of Paediatrics
  • Discipline of Paediatrics & Child Health
  • Royal Children's Hospital
  • Discipline of Genetic Medicine
  • Genetic Metabolic Disorders Research Unit
  • University of Sydney Faculty of Medicine
  • Royal Children’s Hospital
  • The Children's Hospital at Westmead
  • Victorian Clinical Genetics Services
  • Murdoch Children's Research Institute

External person

S. Vermeer

  • Dept. of Human Genetics
  • Radboud University Nijmegen
  • Department of Human Genetics, Radboud University Nijmegen Medical Centre

External person

Hudson H. Freeze

  • Sanford Burnham Prebys Medical Discovery Institute
  • Sanford Burnham Medical Research Institute
  • Sanford-Burnham Medical Research Institute
  • Sanford-Burnham Medical Research Institute
  • Glycobiology and Carbohydrate Chemistry Program
  • Genetic Disease Program
  • Department of Medical Genetics
  • Mayo Clinic Rochester, MN
  • Sanford-Burnham-Prebys Medical Discovery Institute
  • Sanford Children's Health Research Centre

External person

Johannes Häberle

  • University of Zurich
  • Department of Pediatrics
  • Division of Metabolism

External person

S. Geb

  • Goethe University Frankfurt

External person

Sabine Sigaudy

  • Département de Génétique Médicale et de Biologie Cellulaire
  • Institut national de la santé et de la recherche médicale
  • Aix-Marseille Université
  • Département de Génétique Médicale
  • Assistance publique - Hôpitaux de Marseille
  • Hôpital de la Timone

External person

Mercedes Serrano

  • Autonomous University of Barcelona
  • CIBER - Center for Biomedical Research Network
  • SJD Barcelona Children's Hospital
  • Instituto de Salud Carlos III

External person

Deborah Krakow

  • University of California at Los Angeles

External person

Joy Lee

  • Royal Children's Hospital
  • University of Melbourne
  • Royal Children’s Hospital

External person

Thomas A. Ravenscroft

  • Mayo Clinic Jacksonville, FL
  • Mayo Clinic Rochester, MN
  • Department of Neuroscience, Mayo Clinic
  • Department of Neuroscience
  • Baylor College of Medicine
  • Texas Children's Hospital Houston

External person

Rami Abou Jamra

  • Leipzig University
  • Institute of Human Genetics

External person

Tuba F. Eminoglu

  • Department of Pediatric Metabolism and Nutrition
  • Ankara University
  • Department of Pediatric Metabolism
  • Department of Pediatric Metabolism

External person

Athanasios E. Evangeliou

  • 4th Department of Pediatrics
  • Aristotle University of Thessaloniki
  • University of Ioannina
  • Department of Pediatrics
  • Fourth Pediatric Clinic

External person

Jos C. Jansen

  • Department of Gastroenterology and Hepatology
  • Radboud University Nijmegen
  • Translational Metabolic Laboratory
  • University of Pennsylvania

External person

Mustafa Tekin

  • Department of Pediatrics
  • Ankara University
  • University of Miami
  • MIAMI
  • MIAMI
  • MIAMI
  • MIAMI
  • AMERICAN ASSOCIATION FOR STDY LIVER DIS

External person

Mari Anne Vals

  • Department of Clinical Genetics
  • Department of Clinical Genetics
  • Tartu University Hospital
  • University of Tartu

External person

T. Marquardt

  • Universität Münster
  • University of Münster
  • University of Münster
  • Department of Pediatrics
  • Klinik und Poliklinik für Kinderheilkunde
  • Department of General Pediatrics
  • Kiel University
  • University Hospital

External person

Joseph G. Gleeson

  • University of California at San Diego
  • Rockefeller University
  • Howard Hughes Medical Institute
  • Rady Institute of Genomic Medicine
  • Neurogenetics Laboratory
  • Howard Hughes Medical Institute
  • Department of Neurosciences, University of California San Diego
  • Rady Children’s Institute for Genomic Medicine

External person

Sébastien Küry

  • CHU de Nantes
  • Service de Génétique Médicale, Pôle de Biologie
  • Service de Génétique Médiczle
  • Department of Public Health Sciences
  • University of Virginia
  • Kyushu University
  • Department of Preventive Medicine
  • Service de Génétique Médicale, CHU Nantes
  • Université de Nantes
  • Service de Génétique Médicale
  • Cancer Council Victoria
  • Inserm UMR 915 l'Institut du Thorax IRT
  • CHU Nantes

External person

Jozef Hertecant

  • Genetics/Metabolics Service
  • Tawam Hospital
  • Department of Pediatrics
  • United Arab Emirates University
  • Department of Pediatrics

External person

Sandrine Vuillaumier-Barrot

  • Inserm U1149, Centre de Recherche Sur l'Inflammation (CRI)
  • Biochemistry Department
  • Université Paris 7
  • Université Paris Cité

External person

Lonneke De Boer

  • Radboud University Nijmegen
  • Department of Pediatrics
  • Nijmegen Center for Mitochondrial Disorders

External person

Johannis B. De Klerk

  • Erasmus University Rotterdam

External person

Raoul C.M. Hennekam

  • Department of Pediatrics
  • University of Amsterdam
  • Department of Paediatrics and Translational Genetics

External person

Lorraine Potocki

  • Department of Molecular and Human Genetics
  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • BCM
  • BCM
  • Texas Children's Hospital Houston

External person

Ingrid Hausser

  • Department of Dermatology
  • Heidelberg University 
  • Institute of Pathology

External person

Tim M. Strom

  • Technical University Munich
  • University of Toronto
  • Technical University of Munich
  • Helmholtz Zentrum München - German Research Center for Environmental Health
  • Institute of Human Genetics
  • Institute of Human Genetics
  • Institute of Human Genetics
  • Institute of Human Genetics
  • Departments of Medicine, University of Toronto
  • Unit of Genetics of Neurodegenerative and Metabolic Diseases
  • The Oxford Center for Functional MRI. of the Brain
  • IRCCS Fondazione Istituto Neurologico Carlo Besta - Milano
  • University of Oxford

External person

Martin Lindner

  • University Children's Hospital
  • INF 430
  • Heidelberg University 
  • Department of General Pediatrics
  • Division of Metabolic Diseases

External person

Yoshinao Wada

  • Osaka Medical Center
  • Research Institute, Osaka Medical Center for Maternal and Child Health
  • Osaka Medical Center
  • Osaka Prefectural Hospital Organization

External person

Brigitte Chabrol

  • Assistance publique - Hôpitaux de Marseille
  • Hôpital de la Timone

External person

Chong A. Kim

  • Genetics Unity
  • Universidade de São Paulo
  • Genetics Unit

External person

Bram Geenen

  • Radboud University Nijmegen
  • Department of Anatomy
  • Department of Anatomy
  • Donders Institute for Brain
  • Department of Cellular Animal Physiology
  • Department of Anatomy

External person

H. I. Aydin

  • Department of Metabolism
  • Hacettepe University

External person

Ronald Wanders

  • Department of Genetic Metabolic Diseases
  • University of Amsterdam
  • Department of Clinical Chemistry
  • Department of Clinical Chemistry and Pediatrics
  • Amsterdam University Medical Center De Boelelaan 1117 1081HV Amsterdam

External person

Nicholas Stong

  • Institute for Genomic Medicine
  • Columbia University
  • Brystol Myers Squibb
  • COLUMBIA

External person

Nicole M. Walley

  • Duke University
  • Duke Hospital
  • Duke
  • Duke Nashville

External person

Ference J. Loupatty

  • Academic Medical Center Amsterdam
  • University of Amsterdam
  • Department of Clinical Chemistry, Onze Lieve Vrouwe Gasthuis Amsterdam
  • Academic Medical Center
  • Onze Lieve Vrouwe Gasthuis
  • Amsterdam University Medical Center De Boelelaan 1117 1081HV Amsterdam

External person

Joel B. Krier

  • Harvard University
  • Harvard
  • Harvard

External person

Delphine Borgel

  • AP-HP
  • Institut national de la santé et de la recherche médicale
  • Université Paris 5
  • ComUE Paris-Saclay
  • Université Paris-Saclay
  • Université Paris-Sud
  • Université Paris Cité
  • Hôpital Ambroise Paré

External person

Tjitske Kleefstra

  • Radboud University Nijmegen
  • Department of Human Genetics, Radboud University Nijmegen Medical Centre
  • Department of Human Genetics
  • Donders Institute for Brain
  • Centre for Neuroscience
  • Department of Neurology and Translational Metabolic Laboratory

External person

Mahshid S. Azamian

  • Baylor College of Medicine
  • BCM
  • BCM

External person

Maura Ruzhnikov

  • Stanford University
  • Stanford
  • Stanford Center for Undiagnosed Diseases

External person

Sema Kalkan Ucar

  • Division of Metabolic Disease
  • Ege University

External person

Ronen Spiegel

  • Emek Medical Center
  • Technion-Israel Institute of Technology
  • Rappaport School of Medicine
  • Department of Pediatrics
  • Genetic Institute
  • Department of Pediatrics

External person

Rosalba Carrozzo

  • IRCCS Ospedale pediatrico Bambino Gesù - Roma

External person

Jennifer A. Sullivan

  • Department of Pediatrics
  • Duke University
  • Duke Hospital
  • University of Oklahoma
  • Duke
  • Duke Nashville

External person

Kea Crivelly

  • Hayward Genetics Center
  • Tulane University
  • Hayward Genetics Center

External person

Belén Pérez

  • Universidad Autónoma de Madrid
  • Centro de Diagnóstico de Enfermedades Moleculares (CEDEM)
  • CIBER - Center for Biomedical Research Network
  • University of Valencia
  • CSIC

External person

Margot Mulder

  • Department of Pediatrics
  • Vrije Universiteit Amsterdam
  • Department of Pediatrics
  • VU University Medical Center

External person

Frédéric Bilan

  • CHU de Poitiers
  • Université de Poitiers

External person

Elaine Fletcher

  • University of Edinburgh
  • SE Scotland Clinical Genetics Service
  • South East Scotland Clinical Genetics Service
  • NHS Lothian
  • Western General Hospital

External person

Nicola Brunetti-Pierri

  • Baylor College of Medicine
  • Telethon Institute of Genetics and Medicine (TIGEM)
  • Fondazione Telethon
  • University of Naples Federico II
  • Department of Translational Medicine
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Dept. of Molec. and Human Genetics
  • Telethon Institute of Genetics and Medicine
  • Texas Children's Hospital Houston

External person

Alexandra Teszas

  • Medical Faculty
  • University of Pecs
  • Dept. of Medical Genetics/Child Dev.
  • Dept. Med. Genet. and Child Devmt.

External person

Rikke S. Møller

  • University of Copenhagen
  • University of Southern Denmark
  • Institute for Regional Health Services
  • Institute of Regional Research
  • Wilhelm Johannsen Centre of Functional Genomics
  • Wilhelm Johannsen Centre for Functional Genome Research
  • Institute of Regional Health Services Research
  • Department of Clinical and Experimental Epilepsy
  • University College London

External person

Bertrand Isidor

  • Clinical Genetics Unit
  • Université de Nantes
  • Service de Génétique Médicale, CHU Nantes
  • Institut national de la santé et de la recherche médicale
  • CNRS
  • CHU de Nantes
  • CHU Nantes

External person

Lock H. Ngu

  • Division of Clinical Genetics
  • Kuala Lumpur Hospital
  • Division of Clinical Genetics

External person

Katalin Hollody

  • Department of Human Genetics and Pediatrics
  • University of Pecs
  • Medical Faculty
  • Semmelweis University
  • Gyermekklinika
  • Radboud University Nijmegen

External person

Mary Koziura

  • Vanderbilt University

External person

Martijn A. Huynen

  • Radboud University Nijmegen

External person

Vanessa Dos Reis

  • Founder of the Portuguese Association for CDG (APCDG)
  • Rua Manuel da Fonseca 46
  • NOVA University Lisbon
  • Institutional Address: Glycoimmunology Group Lab 3.19

External person

Delfien Syx

  • Ghent University

External person

James P. Orengo

  • Baylor College of Medicine
  • BCM
  • BCM

External person

François Guillaume Debray

  • University of Liege

External person

Fabíola Paoli Monteiro

  • Mendelics Genomic Analysis
  • Mendelics Genomic Analysis

External person

István Raskó

  • Res. Ctr. of Hung. Acad. of Sciences
  • Hungarian Academy of Sciences
  • Institute of Genetics
  • ELKH Secreteriat
  • Szeged Biological Research Centre

External person

C. W R J Cremers

  • Department of Otorhinolaryngology
  • Donders Centre for Brain, Cognition and Behavior
  • Radboud University Nijmegen
  • Department of Otolaryngology - Head and Neck Surgery, Radboud University Nijmegen Medical Center
  • Donders Institute for Brain

External person

Katherine E. Agre

  • Mayo Clinic Rochester, MN
  • Clinical Genomics

External person

Sebahattin Çirak

  • Center for Molecular Medicine
  • University of Cologne
  • University College London
  • Institute of Human Genetics
  • Zentrum für Molekulare Medizin
  • Klinik und Poliklinik für Kinder- und Jugendmedizin
  • Children's National Medical Center
  • Cologne University

External person

O. P. Van Diggelen

  • Erasmus University Rotterdam
  • Department of Clinical Genetics
  • Department of Clinical Genetics, Family Cancer Clinic, Erasmus University Medical Center

External person

Laurence Faivre

  • GEMO Study: Cancer Genetics Network Groupe Génétique et Cancer
  • CLCC Georges Francois Leclerc
  • CHU Dijon
  • Centre de Lutte Contre le Cancer Georges François Leclerc
  • Centre Georges François Leclerc
  • CHU
  • Centre Hospitalier Universitaire de St Etienne
  • CHU de Dijon
  • Université de Bourgogne
  • CHU de Saint-Étienne
  • Centre Georges-François Leclerc
  • Centre de Lutte Contre le Cancer Georges François Leclerc
  • Centre de Lutte Contre le Cancer Georges François Leclerc
  • Centre de Génétique
  • Centre de Lutte Contre le Cancer Georges François Leclerc
  • National Cancer Genetics Network
  • UNICANCER Genetic Group
  • Service de Génétique Clinique Chromosomique et Moléculaire
  • Centre de Génétique
  • Genetics Department
  • Centre de Génétique
  • Institut Curie
  • National Cancer Genetics Network
  • Equipe GAD
  • Centre de Génétique
  • Centre de lutte contre le cancer Georges François Leclerc
  • Centre Hospitalier Chambery
  • Microbiologie
  • FHU-TRANSLAD
  • National Cancer Genetics Network
  • Hôpital d'Enfants CHU Dijon

External person

Yair Anikster

  • National Cancer Institute United States
  • Metabolic Disease Unit
  • Tel Aviv University
  • Metabolic Disease Unit
  • National Institutes of Health
  • Section On Human Biochemical Genetics

External person

Lynette Rives

  • Vanderbilt University
  • Vanderbilt Clinic

External person

Shawn M. Lamothe

  • University of Alberta

External person

T. J. Cho

  • Seoul National University
  • Department of Orthopedics
  • Department of Orthopaedic Surgery

External person

Christopher C.Y. Mak

  • Department of Paediatrics & Adolescent Medicine
  • The University of Hong Kong

External person

Jörg Schaper

  • Department of Diagnostic and Interventional Radiology
  • Heinrich Heine University Düsseldorf

External person

Roger L. Ladda

  • Pennsylvania State University

External person

Stylianos E. Antonarakis

  • Medigenome
  • Medigenome

External person

Gernot Poschet

  • Centre for Organismal Studies (COS)
  • Heidelberg University 
  • Centre for Organismal Studies
  • University of Heidelberg

External person

Jason Hom

  • Stanford University
  • Stanford

External person

Brecht Guillemyn

  • Ghent University

External person

Martin Steinert

  • Sozialpädiatrisches Zentrum
  • Neuropädiatrie

External person

Stephan Rust

  • Department of Pediatrics
  • University of Münster
  • Leibniz Institute for Interactive Materials
  • Leibniz-Institut für Arterioskleroseforschung
  • Leibniz-Institut für Arterioskleroseforschung

External person

J. Carl Pallais

  • Harvard University
  • Harvard
  • Harvard

External person

Tibor Ertl

  • University of Pecs
  • Department of Obstetrics and Gynaecology

External person

Pei Tseng Lee

  • Department of Molecular and Human Genetics
  • Baylor College of Medicine

External person

T. Roscioli

  • Garvan Institute of Medical Research
  • University of New South Wales
  • Sydney Children's Hospital
  • Department of Medical Genetics Prince
  • Radboud University Nijmegen
  • Department of Human Genetics
  • Department of Human Genetics
  • Prince of Wales Private Hospital

External person

Thomas C. Markello

  • Undiagnosed Diseases Program
  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • Office of the Clinical Director
  • Office of the Director
  • Undiagnosed Diseases Network

External person

Yoseph Horovitz

  • Department of Pediatrics
  • Emek Medical Center
  • Technion-Israel Institute of Technology
  • Department of Pediatrics

External person

Ute Spiekerkoetter

  • Department of Pediatrics
  • University of Freiburg

External person

Charles A. Stanley

  • University of Pennsylvania
  • Division of Endocrinology
  • Pediatric Endocrinology

External person

Debdeep Dutta

  • Baylor College of Medicine
  • Texas Children's Hospital Houston

External person

D. Molnar

  • Department of Pediatrics
  • University of Nottingham
  • Department of Pediatrics
  • University of Pecs

External person

Jean Marc Good

  • University of Lausanne

External person

H. Wosik

  • Medical University of Łódź
  • Radboud University Nijmegen
  • Dept. of Pediatrics

External person

Lars Mørkrid

  • Rikshospitalet-Radiumhospitalet HF
  • University of Oslo
  • KG Jebsen Center for Breast Cancer Research
  • Department of Medical Biochemistry
  • Department of Medical Biochemistry

External person

Susan M. White

  • University of Melbourne
  • Murdoch Children's Research Institute
  • Victorian Clinical Genetics Services

External person

Hans Christoph Duba

  • Zentrum Medizinische Genetik Linz
  • Kepler Universitätsklinikum
  • Zentrum Medizinische Genetik Linz
  • Kepler Universitätsklinikum
  • Johannes Kepler University Linz

External person

J. Molnár

  • National Institute of Psychiatry and Neurology
  • MTA-POTE Clin. Genet. Research Group
  • University of Pecs

External person

Raffaella Zannolli

  • Department of Pediatrics
  • Child Neuropsychiatry Unit
  • University of Siena
  • Azienda Ospedaliera Universitaria Senese

External person

Jiri Zeman

  • Department of Pediatrics and Adolescent Medicine
  • Charles University
  • Department of Pediatrics and Adolescent Medicine

External person

Gabor Linthorst

  • Department of Internal Medicine
  • University of Amsterdam
  • Amsterdam University Medical Center De Boelelaan 1117 1081HV Amsterdam

External person

Margret Ryan

  • Department of Chemistry and Biochemistry
  • University of Oregon
  • Radboud University Nijmegen

External person

Sarah E. Donoghue

  • Murdoch Children's Research Institute
  • Royal Children's Hospital
  • Royal Children’s Hospital

External person

Adeline Vanderver

  • Division of Neurology
  • University of Pennsylvania
  • Departments of Neurology
  • Children's National Medical Center
  • Department of Neurology
  • Departments of Neurology
  • Department of Medical Genetics and Pediatrics
  • Mayo Clinic Rochester, MN
  • George Washington University
  • School of Medicine & Health Sciences
  • CHOP

External person

Tiphanie P. Vogel

  • Baylor College of Medicine
  • BCM
  • BCM

External person

Eric Wever

  • Amsterdam UMC
  • University of Amsterdam
  • Amsterdam UMC

External person

Martin Van Dijk

  • Radboud University Nijmegen

External person

Samira Achouitar

  • Radboud University Nijmegen
  • Department of Pediatrics
  • Institute for Genetic and Metabolic Disease

External person

Martine Le Merrer

  • Université Paris 5
  • INSERM UMR1163
  • Université Paris Cité

External person

Jan Albert Kuivenhoven

  • University of Groningen
  • Department of Pathology and Medical Biology
  • Department of Experimental Vascular Medicine
  • University of Amsterdam
  • Department of Pediatrics
  • Department Pediatrics
  • Section of Molecular Metabolism and Nutrition
  • Amsterdam University Medical Center De Boelelaan 1117 1081HV Amsterdam

External person

Phillipe Schröter

  • Charité – Universitätsmedizin Berlin

External person

Björn U. Christ

  • University of Cape Town

External person

Livia Garavelli

  • Clinical Genetics Unit
  • Azienda Ospedaliera Santa Maria Nuova di Reggio Emilia
  • Clinical Genetics Unit
  • Azienda Ospedaliera Santa Maria Nuova di Reggio Emilia

External person

Michaela Veronika Gonfiantini

  • IRCCS Ospedale pediatrico Bambino Gesù - Roma

External person

Maria Tassini

  • C/o Policlinico le Scotte
  • University of Siena
  • The NMR Center

External person

Clara van Karnebeek

  • Department of Medical Genetics
  • University of British Columbia
  • Radboud University Nijmegen
  • University of Amsterdam
  • Amsterdam University Medical Center De Boelelaan 1117 1081HV Amsterdam

External person

Addelkarim Ayadi

  • Université Paris 7
  • Université Paris Cité

External person

Chris Dvorak

  • Tulane University
  • Hayward Genetics Center
  • Hayward Genetics Center

External person

Alida E.M. van Lint

  • University of Amsterdam

External person

Precilla D'Souza

  • National Institutes of Health

External person

A. V. Drack

  • University of Iowa

External person

Sabrina Buoni

  • Child Neuropsychiatry Unit
  • Azienda Ospedaliera Universitaria Senese
  • Vrije Universiteit Amsterdam
  • Metabolic Unit
  • University of Siena
  • Department of Child Neuropsychiatry
  • VU University Medical Center

External person

Maja Hempel

  • University Medical Center Hamburg-Eppendorf

External person

Laura Duncan

  • Vanderbilt University
  • Vanderbilt Clinic

External person

Christian Körner

  • Gottfried v Preyer Kinderspital
  • Center for Child and Adolescent Medicine
  • Center for Metabolic Diseases Heidelberg
  • Department Kinderheilkunde I
  • Center for Child and Adolescent Medicine and Center for Metabolic Diseases Heidelberg

External person

Marijke R. Wevers

  • Radboudumc
  • Radboud University Nijmegen

External person

Emma M. Wade

  • Department of Women's and Children's Health
  • University of Otago

External person

Petra M. Mooijer

  • University of Amsterdam

External person

M. W. Nijhuis-van der Sanden

  • Radboud University Nijmegen
  • Department of Paediatric Physical Therapy

External person

Tim Morgan

  • Department of Women's and Children's Health
  • University of Otago

External person

Timothy C. Wood

  • Greenwood Genetic Center
  • Greenwood Genetics Center
  • Metabolic Laboratory
  • Greenwood Genetics Center

External person

W. Kress

  • Department of Human Genetics
  • University of Würzburg

External person

Christèle Dubourg

  • CNRS
  • CHU de Rennes
  • École nationale supérieure de chimie de Rennes
  • Institut de Génétique et Développement de Rennes

External person

Wouter Steyaert

  • Ghent University

External person

Jacqueline Vigneron

  • Unité de Génétique Médicale
  • CHU de Nancy

External person

Ester Perales-Clemente

  • Center for Regenerative Medicine, Mayo Clinic
  • Mayo Clinic Rochester, MN
  • Center for Regenerative Medicine, Mayo Clinic
  • Department of Medicine and Transplant Center
  • Center for Regenerative Medicine
  • Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Wanek Program for Hypoplastic Left Heart Syndrome
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic

External person

James T. Bennett

  • University of Washington
  • Section of Neonatology
  • Children's Hospital and Regional Medical Center Seattle
  • PNW Research Station

External person

Marjon Van Slegtenhorst

  • Biochem. Molec. Biol.
  • Mayo Clin. Jacksonville, 4500 S. P.
  • Mayo Clinic Jacksonville
  • Mayo Clinic Jacksonville, FL
  • Departments of Pharmacology
  • Erasmus University Rotterdam

External person

Xilma R. Ortiz-González

  • Graduate Program in Neuroscience
  • University of Minnesota Twin Cities
  • Department of Neurosurgery
  • Division of Oncology
  • University of Pennsylvania
  • Departments of Neurology

External person

Neerja Gupta

  • Department of Pediatrics
  • All India Institute of Medical Sciences, New Delhi

External person

John Newman

  • Vanderbilt School of Medicine
  • Vanderbilt University
  • T1218 Medical Center N
  • Department of Allergy, Pulmonary, and Critical Medicine
  • Division of Allergy
  • Vanderbilt Clinic

External person

Johannes H. Levels

  • University of Amsterdam
  • Department of Experimental Vascular Medicine
  • Department of Vascular and Experimental Vascular Medicine
  • Amsterdam University Medical Center De Boelelaan 1117 1081HV Amsterdam

External person

Manuela Fahrleitner

  • Institute of Molecular Biosciences
  • University of Graz

External person

Gabriella Vida

  • University of Pecs
  • Department of Obstetrics and Gynaecology

External person

Marina Macchiaiolo

  • IRCCS Ospedale pediatrico Bambino Gesù - Roma

External person

Lina Basel-Vanagaite

  • Schneider Childrens Medical Center Israel
  • Tel Aviv University
  • Rabin Medical Center Israel
  • Department of Medical Genetics
  • Raphael Recanati Genetics Institute

External person

Hane Lee

  • University of California at Los Angeles

External person

Jorgen Bierau

  • Mayo Clinic Rochester, MN
  • Maastricht University

External person

Stan F. Nelson

  • University of California at Los Angeles
  • Center for Neurobehavioral Genetics
  • Department of Human Genetics

External person

Saadet Mercimek-Mahmutoglu

  • Department of Pediatrics
  • University of Toronto
  • University of Alberta

External person

Nina Ondruskova

  • Department of Pediatrics and Adolescent Medicine
  • Charles University
  • Department of Pediatrics and Adolescent Medicine

External person

Jenny C. Taylor

  • University of Oxford

External person

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