Eva Morava-Kozicz

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

33 shared research output

Mercedes E. Alejandro

BCM
Baylor College of Medicine
BCM

External person

32 shared research output

Beverly Berg-Rood

University of Washington
PNW Research Station

External person

31 shared research output

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

31 shared research output

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

30 shared research output

Pankaj B. Agrawal

Divisions of Genetics and Genomics and Newborn Medicine
Harvard University
Division of Genetics and Genomics
Harvard
Harvard
Boston Children's Hospital
Brigham and Women’s Hospital

External person

30 shared research output

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

External person

29 shared research output

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

29 shared research output

Devon Bonner

Stanford University
Stanford
Stanford Center for Undiagnosed Diseases

External person

29 shared research output

John Bohnsack

University of Utah

External person

28 shared research output

Elizabeth Blue

University of Washington
PNW Research Station
Brotman Baty Institute for Precision Medicine

External person

27 shared research output

Lauren C. Briere

Harvard University
Harvard
Harvard
Brigham and Women’s Hospital
Massachusetts General Hospital

External person

25 shared research output

Lorenzo D. Botto

University of Utah
Department of Pediatrics

External person

25 shared research output

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

25 shared research output

Hugo J. Bellen

Baylor College of Medicine
Texas Children’s Hospital
BCM
Howard Hughes Medical Institute
Jan and Dan Duncan Neurological Research Institute
Texas Children's Hospital
Texas Children's Hospital Houston

External person

22 shared research output

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

22 shared research output

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

21 shared research output

Lindsay C. Burrage

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

External person

20 shared research output

Brenna Boyd

University of Washington
PNW Research Station

External person

20 shared research output

Jimmy Bennet

University of Washington

External person

20 shared research output

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

19 shared research output

Carsten Bonnenmann

National Institutes of Health

External person

19 shared research output

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

18 shared research output

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
Great Ormond Street Hospital for Children NHS Trust

External person

18 shared research output

Silvia Radenkovic

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

External person

18 shared research output

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

18 shared research output

Anna Ligezka

Mayo Clinic Rochester, MN
Jagiellonian University Medical College
Jagiellonian University in Kraków
Mayo Clinic Scottsdale, AZ

External person

17 shared research output

Shamima Rahman

University College London
Innsbruck Medical University
Great Ormond Street Hospital for Children NHS Trust

External person

16 shared research output

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

16 shared research output

Andrew C. Edmondson

Division of Oncology
University of Pennsylvania
The Children's Hospital of Philadelphia

External person

16 shared research output

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

16 shared research output

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
Mayo Clinic College of Medicine and Science

External person

16 shared research output

Elly Brokamp

Vanderbilt University
Vanderbilt Clinic
Vanderbilt Center for Undiagnosed Diseases

External person

16 shared research output

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

15 shared research output

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

15 shared research output

James T. Bennett

University of Washington
Section of Neonatology
Children's Hospital and Regional Medical Center Seattle
PNW Research Station
Brotman Baty Institute for Precision Medicine

External person

14 shared research output

Christina C Lam

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

External person

14 shared research output

Graem Preston

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

External person

14 shared research output

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

14 shared research output

Elizabeth A. Burke

National Institutes of Health

External person

13 shared research output

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

13 shared research output

Lisa Emrick

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

External person

13 shared research output

C. Thiel

Heidelberg University
Department Kinderheilkunde I

External person

13 shared research output

Judit Karteszi

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

External person

13 shared research output

Tomas Honzik

Department of Pediatrics and Adolescent Medicine
Charles University
Department of Pediatrics

External person

12 shared research output

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

12 shared research output

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
King Faisal Specialist Hospital and Research Centre
Mayo Clinic Rochester, MN

External person

12 shared research output

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

12 shared research output

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

12 shared research output

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

12 shared research output

Euan A. Ashley

Stanford University
Stanford Center for Undiagnosed Diseases

External person

12 shared research output

Suzan Wopereis

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

External person

11 shared research output

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
University of Antwerp

External person

11 shared research output

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

11 shared research output

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

11 shared research output

Raquel L. Alvarez

Stanford Center for Undiagnosed Diseases

External person

11 shared research output

Gabrielle Brown

University of California at Los Angeles

External person

11 shared research output

Heidi Cope

Duke University
Duke Hospital
Duke
Duke Nashville

External person

11 shared research output

Johannes Zschocke

Innsbruck Medical University
Division of Human Genetics

External person

11 shared research output

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

10 shared research output

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

10 shared research output

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

10 shared research output

Carlo Dionisi-Vici

Division of Metabolism
IRCCS Ospedale pediatrico Bambino Gesù - Roma
Unit of Metabolism
MetabERN: European Reference Network for Hereditary Metabolic Disorders

External person

10 shared research output

Arjan P.M. de Brouwer

Radboud University Nijmegen
Medical Center
RUNMC

External person

10 shared research output

Vandana Shashi

Duke University
Duke Hospital
Duke
Duke Nashville

External person

10 shared research output

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

9 shared research output

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

9 shared research output

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
Universite Lille Nord de France
LIA GLYCOLAB4CDG France/Belgium (International Associated Laboratory "Laboratory for the Research on Congenital Disorders of Glycosylation–from cellular mechanisms to cure”)

External person

9 shared research output

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

9 shared research output

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
Mayo Clinic College of Medicine and Science
The Children's Hospital of Philadelphia
Mayo Clinic College of Medicine and Science

External person

9 shared research output

Hongzheng Dai

Baylor College of Medicine
BCM
BCM
Baylor Genetics, LLC

External person

9 shared research output

B. Melegh

University of Pecs
Hungarian Academy of Sciences
MTA-POTE Clin. Genet. Res. Grp. H.

External person

9 shared research output

Suzanne Boyer

Mayo Clinic Rochester, MN

External person

9 shared research output

Christin Johnsen

Mayo Clinic Rochester, MN
University of Göttingen

External person

8 shared research output

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

8 shared research output

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

8 shared research output

Hudson Freeze

Sanford Burnham Prebys Medical Discovery Institute
Mayo Clinic Rochester, MN

External person

8 shared research output

Kelly Schoch

Department of Pediatrics
Duke University
Duke Hospital
Duke
Duke Nashville

External person

8 shared research output

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
LIA GLYCOLAB4CDG France/Belgium (International Associated Laboratory "Laboratory for the Research on Congenital Disorders of Glycosylation–from cellular mechanisms to cure”)

External person

8 shared research output

Austin A. Larson

University of Colorado Anschutz Medical Campus
University of Colorado Denver
University of Pennsylvania
University of Colorado Department of Pediatrics
Children's Hospital Denver

External person

8 shared research output

Erica L. Macke

Mayo Clinic Rochester, MN
Center for Individualized Medicine, Mayo Clinic
Center for Individualized Medicine
Mayo Clinic College of Medicine and Science
Mayo Clinic College of Medicine and Science
Nationwide Children’s Hospital

External person

8 shared research output

Verena Peters

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

External person

8 shared research output

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
University of Murcia
University Hospital Center of Santo António

External person

8 shared research output

Tim Emmerzaal

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

External person

8 shared research output

Sunnie Yan Wai Wong

Hayward Genetics Center
Tulane University
Hayward Genetics Center
Stanford University

External person

8 shared research output

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

8 shared research output

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

8 shared research output

Francjan J. Van Spronsen

University of Groningen
Section of Molecular Metabolism and Nutrition

External person

8 shared research output

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

8 shared research output

R. Francisco

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

External person

8 shared research output

Carlos R. Ferreira

Division of Genetics and Metabolism
Children's National Medical Center
National Institutes of Health
University of Toronto
University of Coimbra

External person

7 shared research output

Rohit Budhraja

Mayo Clinic Rochester, MN

External person

7 shared research output

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

7 shared research output

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

7 shared research output

Oguz Kanca

Department of Molecular and Human Genetics
Baylor College of Medicine
Texas Children's Hospital Houston
Jan and Dan Duncan Neurological Research Institute

External person

7 shared research output

Rita Barone

Pediatric Neurology
University of Catania

External person

7 shared research output

Mirian C.H. Janssen

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

External person

7 shared research output

Rebecca C. Spillmann

Duke Hospital
Duke University
Duke
Duke Nashville
Harvard University

External person

7 shared research output

Manish J. Butte

University of California at Los Angeles

External person

7 shared research output

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

7 shared research output

Peter van Hasselt

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

External person

7 shared research output

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

7 shared research output

Sharita Timal

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

External person

7 shared research output

Patrick Allard

University of California at Los Angeles

External person

7 shared research output

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

7 shared research output

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
Jan and Dan Duncan Neurological Research Institute
Jan and Dan Duncan Neurological Research Institute

External person

7 shared research output

Frans A. Hol

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

External person

7 shared research output

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

7 shared research output

Daisy Rymen

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

External person

7 shared research output

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

7 shared research output

Gabriel F. Batzli

National Institutes of Health

External person

7 shared research output

Jennefer N. Kohler

Stanford University
Stanford
Stanford Center for Undiagnosed Diseases

External person

6 shared research output

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

6 shared research output

Hana Hansikova

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

External person

6 shared research output

Ellen F. Macnamara

National Institutes of Health

External person

6 shared research output

Kimberly Leblanc

Harvard University
Harvard
Harvard

External person

6 shared research output

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
Mayo Clinic College of Medicine and Science

External person

6 shared research output

Wolfgang Sperl

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

External person

6 shared research output

Alyssa A. Tran

BCM
Baylor College of Medicine
BCM

External person

6 shared research output

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

6 shared research output

Camille L. Birch

HudsonAlpha Institute of Biotechnology
HudsonAlpha Institute for Biotechnology

External person

6 shared research output

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

6 shared research output

Alica Goldman

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

External person

6 shared research output

Niklas Darin

Department of Pediatrics
Sahlgrenska University Hospital
Department of Pediatrics
University of Gothenburg

External person

6 shared research output

Kirsty McWalter

GeneDX Inc
OPKO Health, Inc.

External person

6 shared research output

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

6 shared research output

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

6 shared research output

Fariha Jamal

Baylor College of Medicine
BCM
BCM

External person

6 shared research output

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

6 shared research output

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

6 shared research output

David R. Murdock

Department of Molecular and Human Genetics
Baylor College of Medicine
Human Genome Sequencing Center
BCM
BCM
University of Texas Health Science Center at Houston

External person

6 shared research output

Gerry Steenbergen

Translational Metabolic Laboratory
Radboud University Nijmegen
Department of Laboratory Medicine

External person

6 shared research output

Matthew T. Wheeler

Stanford University
Stanford
Stanford Center for Undiagnosed Diseases

External person

6 shared research output

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

6 shared research output

Manuel Schiff

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

External person

6 shared research output

Angel Ashikov

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

External person

6 shared research output

Peter H. Byers

University of Washington
Department of Pathology, University of Washington
Department of Medicine, Division of Cardiology, University of Washington
Department of Medicine
Department of Pathology
Departments of Pathology
Departments of Pathology and Medicine (Medical Genetics)
Department of Medicine (Medical Genetics), University of Washington
PNW Research Station

External person

6 shared research output

Lihadh AlGazali

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

External person

6 shared research output

P. J. Coucke

Ghent University Hospital
Ghent University
Great Ormond Street Hospital
University College London
Department of Medical Genetics
Great Ormond Street Hospital for Children NHS Trust

External person

6 shared research output

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

6 shared research output

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)
Portuguese Association for Congenital Disorders of Glycosylation (CDG)

External person

6 shared research output

Richard A. Lewis

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

External person

6 shared research output

Lefkothea Karaviti

Baylor College of Medicine
BCM
BCM

External person

6 shared research output

Gary D. Clark

Baylor College of Medicine
BCM
BCM

External person

6 shared research output

Ludwig Lehle

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

External person

6 shared research output

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

6 shared research output

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

6 shared research output

Shawn Tahata

Mayo Clinic Rochester, MN
Division of Hematology
Clinical Genomics
Stanford University

External person

6 shared research output

N. A. Hanchard

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

External person

6 shared research output

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

6 shared research output

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

5 shared research output

Matthew J. Schultz

Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic
Mayo Clinic Rochester, MN
Division of Laboratory Genetics and Genomics
Mayo Clinic College of Medicine and Science
Mayo Clinic College of Medicine and Science

External person

5 shared research output

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
Mayo Clinic College of Medicine and Science

External person

5 shared research output

Marinette Van Der Graaf

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

External person

5 shared research output

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

5 shared research output

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

5 shared research output

M. Estela Rubio-Gozalbo

Departments of Paediatrics
Maastricht University
MetabERN: European Reference Network for Hereditary Metabolic Disorders
UMD: United for Metabolic Diseases Member

External person

5 shared research output

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

5 shared research output

Chloe M. Reuter

Stanford Center for Undiagnosed Diseases
Stanford University
Stanford

External person

5 shared research output

Friederike Hörster

Department of General Pediatrics
Heidelberg University
Department of General Pediatrics

External person

5 shared research output

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
Boston Children's Hospital

External person

5 shared research output

H. C. Andersson

Tulane University
Hayward Genetics Center
Human Genetics Program

External person

5 shared research output

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
King Faisal Specialist Hospital and Research Centre

External person

5 shared research output

Katrin Õunap

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

External person

5 shared research output

Donna M. Krasnewich

National Institutes of Health

External person

5 shared research output

Karin Naess

Department of Pediatric Neurology
Karolinska Institutet

External person

5 shared research output

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
BCM
Jan and Dan Duncan Neurological Research Institute

External person

5 shared research output

Wirginia Krzyściak

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

External person

5 shared research output

Anibh M. Das

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

External person

5 shared research output

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

5 shared research output

Lauren Gunderson

Mayo Clinic Rochester, MN
Clinical Genomics

External person

5 shared research output

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
Amsterdam University Medical Center De Boelelaan 1117 1081HV Amsterdam

External person

5 shared research output

Queenie K.G. Tan

Duke University
Duke Hospital
Duke
Duke Nashville

External person

5 shared research output

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

5 shared research output

María Palomares-Bralo

Universidad Autónoma de Madrid
Instituto de Salud Carlos III
CIBER - Center for Biomedical Research Network
Centro de Investigación Biomédica en Red
Hospital Universitario La Paz

External person

5 shared research output

Aikaterini Dimopoulou

Charité – Universitätsmedizin Berlin
Institut of Medical Genetics

External person

5 shared research output

Eckhard Korsch

University of Cologne
Pediatric Hospital

External person

5 shared research output

Anna Alkelai

Columbia University

External person

5 shared research output

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

5 shared research output

Christina G.S. Palmer

University of California at Los Angeles

External person

5 shared research output

Tamás Illés

University of Pecs
Medical Faculty

External person

5 shared research output

Bart Ghesquière

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

External person

5 shared research output

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

5 shared research output

Shruti Marwaha

Stanford Center for Undiagnosed Diseases
Stanford
Stanford University

External person

5 shared research output

René Santer

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

External person

5 shared research output

Nathalie Seta

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

External person

5 shared research output

Agata Fiumara

Pediatric Neurology
University of Catania

External person

5 shared research output

Alberto Burlina

Division of Inherited Metabolic Diseases
Azienda Ospedaliera di Padova
Department of Pediatrics
MetabERN: European Reference Network for Hereditary Metabolic Disorders

External person

5 shared research output

G. Tóth

University of Pecs

External person

5 shared research output

Diederik De Graef

Mayo Clinic Rochester, MN

External person

5 shared research output

Mustafa Tekin

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

External person

5 shared research output

S. Kölker

Heidelberg University
Department of General Pediatrics
Division of Metabolic Diseases

External person

5 shared research output

Therese Gadomski

Hayward Genetics Center
Tulane University
Hayward Genetics Center

External person

5 shared research output

Ariana Kariminejad

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

External person

5 shared research output

Joel B. Krier

Harvard University
Harvard
Harvard
Undiagnosed Diseases Network
Brigham and Women’s Hospital

External person

5 shared research output

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

5 shared research output

Ronit Marom

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

External person

5 shared research output

David Bick

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

External person

5 shared research output

Emily G. Kelley

Harvard University
Harvard
Harvard
Color Genomics

External person

5 shared research output

Hulya Kayserili

Istanbul University
Istanbul University
Medical Genetics Department
Department of Medical Genetics
Istanbul University - Cerrahpaşa

External person

5 shared research output

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

5 shared research output

Karthik Muthusamy

Mayo Clinic Rochester, MN
Mayo Clinic Jacksonville, FL

External person

5 shared research output

Gepke Visser

Utrecht University
Department of Pediatrics

External person

4 shared research output

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

4 shared research output

William A. Gahl

National Institutes of Health
NHGRI

External person

4 shared research output

Maria J. Guillen Sacoto

GeneDX Inc
Clinical Genomics Program
OPKO Health, Inc.

External person

4 shared research output

Holly K. Tabor

University of Washington
Section of Neonatology
Stanford University
Stanford
Stanford Center for Undiagnosed Diseases

External person

4 shared research output

Rodrigo Tzovenos Starosta

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

External person

4 shared research output

Fransiska Malfait

Ghent University
KU Leuven
Department of Pediatrics

External person

4 shared research output

Ivo Barić

Department of Pediatrics
University of Zagreb
Department of Pediatrics

External person

4 shared research output

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

4 shared research output

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

4 shared research output

Rudy van Coster

Ghent University
Department of Pediatrics

External person

4 shared research output

Daisy Dalloyaux

Radboud University Nijmegen
Department of Pediatrics
Translational Metabolic Laboratory

External person

4 shared research output

Amber Begtrup

GeneDX Inc
OPKO Health, Inc.

External person

4 shared research output

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
OPKO Health, Inc.

External person

4 shared research output

E. M. Maier

Ludwig Maximilian University of Munich

External person

4 shared research output

Lance H. Rodan

Harvard University
Divisions of Genetics and Genomics and Newborn Medicine
Department of Pediatrics
Division of Genetics and Genomics
Harvard
Harvard
Boston Children's Hospital
Brigham and Women’s Hospital

External person

4 shared research output

Stan F. Nelson

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

External person

4 shared research output

Saadet Mercimek-Mahmutoglu

Department of Pediatrics
University of Toronto
University of Alberta

External person

4 shared research output

Miranda Theodore

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

External person

4 shared research output

Dorothy K. Grange

Division of Genetics and Genomic Medicine
Washington University St. Louis
Department of Pediatrics
Baylor Genetics, LLC

External person

4 shared research output

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

4 shared research output

Ulrich Brandt

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

External person

4 shared research output

Shinya Yamamoto

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

External person

4 shared research output

Anna Cechova

Charles University
Department of Pediatrics and Adolescent Medicine

External person

4 shared research output

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

4 shared research output

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

4 shared research output

Gabrielle Gillessen-Kaesbach

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

External person

4 shared research output

Johannes A. Mayr

Paracelsus Private Medical University
Department of Paediatrics

External person

4 shared research output

Siddharth Banka

The Christie NHS Foundation Trust
University of Manchester
Manchester Centre for Audiology and Deafness
Manchester University NHS Foundation Trust
Manchester Centre for Genomic Medicine
Division of Neuroscience and Experimental Psychology
University of Manchester

External person

4 shared research output

Cecilia Esteves

Harvard University
Harvard
Harvard

External person

4 shared research output

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
National Guard Health Affairs

External person

4 shared research output

Mayank Saraswat

Mayo Clinic Rochester, MN
National Institute of Mental Health and Neurosciences
Institute of Bioinformatics
Manipal Academy of Higher Education
International Technology Park
Institute of Bioinformatics
ITPL
International Technology Park
National Institute of Mental Health and Neuro Sciences

External person

4 shared research output

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

4 shared research output

Marije Hogeveen

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

External person

4 shared research output

Bert Callewaert

Ghent University

External person

4 shared research output

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

4 shared research output

Diego Martinelli

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

External person

4 shared research output

Chris Verhaak

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

External person

4 shared research output

Jennifer E. Posey

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

External person

4 shared research output

Sergio Guerrero-Castillo

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

External person

4 shared research output

Rizwan Hamid

Vanderbilt University
Vanderbilt Clinic
Vanderbilt Center for Undiagnosed Diseases

External person

4 shared research output

Sanne van Kraaij

Radboud University Nijmegen
Translational Metabolic Laboratory
Department of Pediatrics

External person

4 shared research output

Jehan Mousa

Mayo Clinic Rochester, MN

External person

4 shared research output

Anita Rauch

University of Zurich

External person

4 shared research output

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
The Children's Hospital at Westmead
Victorian Clinical Genetics Services
Murdoch Children's Research Institute

External person

4 shared research output

Peter Freisinger

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

External person

4 shared research output

Pavel Pichurin

Medical Genetics, Mayo Clinic
Mayo Clinic Rochester, MN
Department of Medical Genetics
Division of Medical Genetics
Clinical Genomics
Center for Individualized Medicine, Mayo Clinic
University of California at Los Angeles
Cedars-Sinai Medical Center
Radboud University Nijmegen
Mayo Clinic College of Medicine and Science
Mayo Clinic College of Medicine and Science

External person

4 shared research output

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

4 shared research output

Deborah Krakow

University of California at Los Angeles

External person

4 shared research output

Lisa A. Schimmenti

University of Minnesota Twin Cities
Mayo Clinic Rochester, MN
Clinical Genomics
Department of Pediatrics and Ophthalmology
Gene Therapy Program
Arnold and Mabel Beckman Center for Transposon Research
Department of Pediatrics
Department of Pediatrics, Genetics and Metabolism
Department of Ophthalmology
Pediatrics and Genetics
Department of Genetics
Developmental Biology Center
Department of Ophthalmology
Department of Ophthalmology
Department of Medicine Developmental Biology Center
Departments of Otorhinolaryngology-Head and Neck Surgery
Department of Biochemistry and Molecular Biology, Mayo Clinic
Department of Otorhinolaryngology, Mayo Clinic
Department of Otolaryngology-Head and Neck Surgery
Cancer Center
Mayo Clinic College of Medicine and Science
Departments of Clinical Genomics
Departments of Clinical Genomics
Mayo Clinic College of Medicine and Science

External person

4 shared research output

Rami Abou Jamra

Leipzig University
Institute of Human Genetics

External person

4 shared research output

Can Ficicioglu

University of Pennsylvania School of Medicine
University of Pennsylvania
Division of Pediatrics
Division of Human Genetics
Mayo Clinic Rochester, MN
The Children's Hospital of Philadelphia

External person

4 shared research output

Fernando Santos-Simarro

Universidad Autónoma de Madrid
CIBER - Center for Biomedical Research Network
Instituto de Salud Carlos III
Centro de Investigación Biomédica en Red
Hospital Universitario La Paz

External person

4 shared research output

Matthew Might

Harvard
University of Alabama at Birmingham

External person

4 shared research output

Shweta U. Dhar

BCM
BCM

External person

4 shared research output

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

4 shared research output

Pirjo Isohanni

Clinic Group of Pediatric Neurology
University of Helsinki
Biomedicum
Children's Hospital Helsinki
Helsinki University Central Hospital

External person

4 shared research output

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
Hôpital SUD

External person

4 shared research output

M. Pierce

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

External person

4 shared research output

Anne Slavotinek

University of California at San Francisco
Department of Pediatrics

External person

4 shared research output

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”
LIA GLYCOLAB4CDG France/Belgium (International Associated Laboratory "Laboratory for the Research on Congenital Disorders of Glycosylation–from cellular mechanisms to cure”)

External person

4 shared research output

Felix Distelmaier

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

External person

4 shared research output

Allyn Mcconkie-rosell

Duke University
Duke Hospital
Duke Nashville

External person

4 shared research output

Joel A. Morales-Rosado

University of Puerto Rico
Geriatrics Program
Mayo Clinic Rochester, MN
Center for Individualized Medicine, Mayo Clinic
Department of Health Sciences and Research, Mayo Clinic
Center for Individualized Medicine
Mayo Clinic College of Medicine and Science
Mayo Clinic College of Medicine and Science
Vanderbilt University

External person

4 shared research output

Nicholas Stong

Institute for Genomic Medicine
Columbia University
Brystol Myers Squibb
COLUMBIA
Bristol-Myers Squibb

External person

4 shared research output

Nicole M. Walley

Duke University
Duke Hospital
Duke
Duke Nashville

External person

4 shared research output

Konrad Platzer

Leipzig University
Institute of Human Genetics
Institute of Human Genetics

External person

4 shared research output

Maura Ruzhnikov

Stanford University
Stanford
Stanford Center for Undiagnosed Diseases

External person

4 shared research output

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

4 shared research output

Rosalba Carrozzo

IRCCS Ospedale pediatrico Bambino Gesù - Roma

External person

4 shared research output

Jennifer A. Sullivan

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

External person

4 shared research output

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

4 shared research output

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

4 shared research output

R. Zeevaert

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

External person

4 shared research output

Federic Tort

August Pi i Sunyer Biomedical Research Institute
University of Barcelona

External person

4 shared research output

Marta Pacio-Míguez

Universidad Autónoma de Madrid
Instituto de Salud Carlos III
Hospital Universitario La Paz

External person

4 shared research output

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
Kuala Lumpur Hospital
The Children's Hospital at Westmead

External person

4 shared research output

Mary Koziura

Vanderbilt University

External person

4 shared research output

Daniel Wegner

Washington University St. Louis

External person

4 shared research output

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

4 shared research output

Christopher Lau

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

External person

3 shared research output

James P. Orengo

Baylor College of Medicine
BCM
BCM

External person

3 shared research output

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

3 shared research output

Jim Bale

External person

3 shared research output

Katherine E. Agre

Mayo Clinic Rochester, MN
Clinical Genomics
Invitae Corporation

External person

3 shared research output

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
INSERM
Functional Unit for Diagnostic Innovation in Rare Diseases

External person

3 shared research output

Francisca Millan

GeneDX Inc
OPKO Health, Inc.

External person

3 shared research output

Kishore Garapati

Mayo Clinic Rochester, MN
Manipal Academy of Higher Education
Institute of Bioinformatics
National Institute of Mental Health and Neurosciences
Institute of Bioinformatics
International Technology Park
International Technology Park
International Technology Park
National Institute of Mental Health and Neuro Sciences

External person

3 shared research output

Lynette Rives

Vanderbilt University
Vanderbilt Clinic
Vanderbilt Center for Undiagnosed Diseases

External person

3 shared research output

Marketa Tesarova

Department of Pediatrics and Adolescent Medicine
Charles University
Department of Pediatrics

External person

3 shared research output

Jason Hom

Stanford University
Stanford
Stanford Center for Undiagnosed Diseases

External person

3 shared research output

Stephan Züchner

University of Miami

External person

3 shared research output

J. H. Walter

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

External person

3 shared research output

Judit Bene

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

External person

3 shared research output

J. Carl Pallais

Harvard University
Harvard
Harvard
Brigham and Women’s Hospital

External person

3 shared research output

Tim Van Damme

Ghent University

External person

3 shared research output

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

3 shared research output

John Carey

University of Utah

External person

3 shared research output

Anne Hing

University of Washington
PNW Research Station

External person

3 shared research output

Sabine Grønborg

Department of Clinical Genetics
University of Copenhagen

External person

3 shared research output

G. Gökcay

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

External person

3 shared research output

Katharina Steindl

University of Zurich

External person

3 shared research output

Christa M. de Geus

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

External person

3 shared research output

Maria Iascone

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

External person

3 shared research output

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
The Children's Hospital of Philadelphia

External person

3 shared research output

Aimee Allworth

University of Washington

External person

3 shared research output

Tiphanie P. Vogel

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

External person

3 shared research output

Amanda M. Ackermann

Division of Endocrinology and Diabetes
University of Pennsylvania
Pediatric Endocrinology
Division of Oncology
The Children's Hospital of Philadelphia

External person

3 shared research output

Robert Taylor

NEMA Research
Newcastle University
Mitochondrial Research Group

External person

3 shared research output

Livia Garavelli

Clinical Genetics Unit
Azienda Ospedaliera Santa Maria Nuova di Reggio Emilia
Clinical Genetics Unit
Azienda Ospedaliera Santa Maria Nuova di Reggio Emilia
IRCCS Azienda Unità Sanitaria Locale di Reggio Emilia

External person

3 shared research output

Judith Fischer

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

External person

3 shared research output

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

3 shared research output

John H. Newman

Vanderbilt University
Vanderbilt Center for Undiagnosed Diseases

External person

3 shared research output

W. Meersseman

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

External person

3 shared research output

Elena Levtchenko

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

External person

3 shared research output

Precilla D'Souza

National Institutes of Health

External person

3 shared research output

Laura Duncan

Vanderbilt University
Vanderbilt Clinic
Vanderbilt Center for Undiagnosed Diseases

External person

3 shared research output

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

3 shared research output

Rebecca Signer

University of California at Los Angeles

External person

3 shared research output

Virginia P. Sybert

University of Washington
Group Health Cooperative
Division of Medical Genetics
Department of Genetics
Division of Medical Genetics
University of Washington
PNW Research Station

External person

3 shared research output

Evangeline Wassmer

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

External person

3 shared research output

Frances High

Harvard University
Harvard
Harvard
Brigham and Women’s Hospital
Massachusetts General Hospital

External person

3 shared research output

Gajja S. Salomons

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

External person

3 shared research output

Wouter Steyaert

Ghent University

External person

3 shared research output

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

3 shared research output

Heidi Zweers Van Essen

Department of Dietetics
Radboud University Nijmegen

External person

3 shared research output

Hane Lee

University of California at Los Angeles

External person

3 shared research output

J. M. Stoler

Harvard University
Division of Genetics
Department of Pediatrics
Harvard
Harvard
Undiagnosed Diseases Network
Boston Children's Hospital
Brigham and Women’s Hospital
Massachusetts General Hospital

External person

3 shared research output

Julie S. Cohen

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

External person

3 shared research output

B. Kremer

University of Groningen
Radboud University Nijmegen
University of British Columbia

External person

3 shared research output

Pascal Joset

University of Zurich
University of Basel

External person

3 shared research output

An I. Jonckheere

Radboud University Nijmegen
Department of Pediatrics
Laboratory of Paediatrics and Neurology

External person

3 shared research output

Maria Lisa Dentici

IRCCS Ospedale pediatrico Bambino Gesù - Roma

External person

3 shared research output

Kyriakie Sarafoglou

University of Minnesota Twin Cities
Department of Pediatrics
Cancer Center
Department of Pediatrics

External person

3 shared research output

Jorge Granadillo

Washington University St. Louis

External person

3 shared research output

Nurulamin Abu Bakar

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

External person

3 shared research output

Elizabeth L. Fieg

Harvard University
Harvard
Harvard
Brigham and Women’s Hospital

External person

3 shared research output

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

3 shared research output

F. Tsien

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

External person

3 shared research output

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

3 shared research output

Julian A. Martínez-Agosto

Harbor-UCLA Medical Center and Los Angeles Biomedical Research Institute
University of California at Los Angeles
Department of Human Genetics

External person

3 shared research output

P. J. Benke

Memorial Regional Hospital
Florida Atlantic University
Joe DiMaggio Children’s Hospital

External person

3 shared research output

Marjan Huizing

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

External person

3 shared research output

Ehsan G. Karimiani

Next Generation Genetic Polyclinic
University of London
St. George's University of London
Islamic Azad University
Innovative Medical Research Center

External person

3 shared research output

Manju A. Kurian

University College London
Department of Neurology
Great Ormond Street Hospital for Children NHS Trust

External person

3 shared research output

Siavash Ghaderi-Sohi

Kariminejad-Najmabadi Pathology & Genetics Center

External person

3 shared research output

Andrea Superti-Furga

Department of Pediatrics
University of Lausanne
Department of Pediatrics

External person

3 shared research output

Daryl A. Scott

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

External person

3 shared research output

Sander Pajusalu

Department of Clinical Genetics
Department of Clinical Genetics
University of Tartu
Department of Genetics
Yale University
Broad Institute

External person

3 shared research output

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

3 shared research output

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

3 shared research output

Diane B. Zastrow

Stanford University
Stanford

External person

3 shared research output

Cherisse A. Marcou

Mayo Clinic Rochester, MN
Division of Hematology
Division of Pediatric Cardiology
Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic
Department of Medicine (Division of Cardiovascular Diseases)
Mayo Clinic College of Medicine and Science
Dept. Molec. Pharmacol. Exp. T.
Windland Smith Rice Sudden Death Genomics Laboratory
Division of Laboratory Genetics and Genomics
Department of Pediatrics

External person

3 shared research output

Sarah K. Nicholas

Baylor College of Medicine
BCM
BCM

External person

3 shared research output

Radhika Dhamija

Mayo Clinic College of Medicine
Division of Child and Adolescent Neurology
Mayo Clinic College of Medicine and Science
Division of Child and Adolescent Psychiatry
Mayo Clinic Rochester, MN
University of Montreal
Mayo Clinic
Mayo Clinic Scottsdale, AZ
Mayo Clinic
Division of Child and Adolescent Neurology and Epilepsy
Department of Immunology
Department of Neurology
Department of Medical Genetics
Departments of Neurology and Pediatrics
University of Virginia
Department of Medical Genetics
Division of Child and Adolescent Neurology
Department of Neurology
Department of Medical Genetics
Department of Neurology
Departments of Clinical Genomics
Departments of Neurology
Department of Neurology
Division of Gastroenterology and Hepatology
From the Departments of Neurology (A.M.P.
Mayo Clinic
Mayo Clinic

External person

3 shared research output

Graciella Uziel

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

External person

3 shared research output

Kendra L. Engleman

Children's Mercy Hospitals and Clinics
University of Missouri at Kansas City

External person

3 shared research output

Vincent Cantagrel

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

External person

3 shared research output

Rameen Shah

Mayo Clinic Rochester, MN
Mayo Clinic College of Medicine and Science

External person

3 shared research output

T. Zwickler

Heidelberg University
Department of General Pediatrics
Division of Metabolic Diseases

External person

3 shared research output

Mariluce Riegel

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

External person

3 shared research output

Sunnie Wong

Tulane University

External person

3 shared research output

Yuebo Zhang

Mayo Clinic Rochester, MN

External person

3 shared research output

Nicol C. Voermans

Radboud University Nijmegen
Department of Neurology

External person

3 shared research output

Paolo M. Moretti

University of Utah
Baylor College of Medicine
BCM
BCM

External person

3 shared research output

Marjolein A.W. Van Den Boogert

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

External person

3 shared research output

L. Gilbert Vezina

Children's National Medical Center

External person

3 shared research output

Amy K. Robertson

Vanderbilt University
Vanderbilt Clinic
Vanderbilt Center for Undiagnosed Diseases

External person

3 shared research output

J. M. Aerts

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

External person

3 shared research output

Ben Afzali

External person

3 shared research output

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

3 shared research output

Francis Bowling

Biochemical Diseases
Mater Children's Hospital
Mater Group

External person

3 shared research output

Donna Novacic

National Institutes of Health

External person

3 shared research output

Chirag Patel

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

External person

3 shared research output

Wendy Raskind

Univ. of Washington Sch. of Medicine
University of Washington
Department of Neurology
Clinical Research Division, Fred Hutchinson Cancer Research Center and Division of Medical Oncology, Department of Medicine, University of Washington School of Medicine
PNW Research Station

External person

3 shared research output

Yasemin Alanay

Pediatric Genetics Unit
Acibadem Mehmet Ali Aydinlar Universitesi
Department of Child Health and Diseases
The Acibadem Healthcare Group

External person

3 shared research output

Liliana Fernandez

Stanford University
Stanford
Stanford Center for Undiagnosed Diseases

External person

3 shared research output

Reza Maroofian

Genetics Research Centre
University of London
University College London
St. George's University of London
National Hospital for Neurology and Neurosurgery

External person

3 shared research output

Susan L. Samson

Mayo Clinic Jacksonville, FL
Baylor College of Medicine
BCM
BCM
University of California at San Francisco

External person

3 shared research output

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 Health Care System
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
University of Texas at Dallas

External person

3 shared research output

Joana Correia

Centro Hospitalar Universitário do Porto
Centro de Referência Doenças Hereditárias do Metabolismo - Centro Hospitalar do Porto
University Hospital Center of Santo António

External person

3 shared research output

Gail P. Jarvik

University of Washington
PNW Research Station
Departments of Medicine Medical Genetics
Division of Medical Genetics
Washington University St. Louis
Brotman Baty Institute for Precision Medicine

External person

3 shared research output

Vivienne Verweij

Radboud University Nijmegen
Department of Anatomy

External person

3 shared research output

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

3 shared research output

Fowzan S. Alkuraya

Alfaisal University
King Abdulaziz City for Science and Technology
King Abdullah University of Science and Technology
King Faisal Specialist Hospital and Research Centre
Department of Genetics
Division of Biological and Environmental Sciences and Engineering (BESE)
College of Medicine
Developmental Genetics Unit
King Faisal Specialist Hospital and Research Centre

External person

3 shared research output

Martha J. Horike-Pyne

University of Washington
Division of Medical Genetics
PNW Research Station

External person

3 shared research output

Heather Mefford

University of Washington
University of Sydney
University of Otago
PNW Research Station
St. Jude Children Research Hospital

External person

3 shared research output

Mary Alice Abbott

Tufts University
Department of Pediatrics
University of Massachusetts Medical School
UMass Chan Medical School
Baystate Medical Center
Baystate Medical Center/University of Massachusetts Medical School

External person

3 shared research output

David A. Sweetser

Departments of Medicine and Genetics
University of Washington
Fred Hutchinson Cancer Research Center
Palmetto Health-USC Medical Group
Parker Hughes Institute
University of Southern California
Harvard University
Division of Medical Genetics
Harvard
Harvard
CureSearch
CureSearch
Massachusetts General Hospital
Brigham and Women’s Hospital

External person

3 shared research output

Dihong Zhou

Children's Mercy Hospitals and Clinics
Children's Mercy
University of Missouri at Kansas City

External person

3 shared research output

Emmanuelle Ranza

Medigenome
Medigenome
Bern
Medigenome

External person

3 shared research output

Charu Kaiwar

Mayo Clinic Scottsdale, AZ
Center for Individualized Medicine
Invitae
University of Tübingen
Department of Neurology and Epileptology
Mayo Clinic Rochester, MN
Invitae Corporation
Children’s Hospital Colorado

External person

3 shared research output

Dagmar Wieczorek

Heinrich Heine University Düsseldorf
Institute of Human Genetics

External person

3 shared research output

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

3 shared research output

G. Peters

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

External person

3 shared research output

Wadih M. Zein

National Cancer Institute United States
National Institutes of Health
National Institutes of Health

External person

3 shared research output

William E. Byrd

University of Alabama at Birmingham

External person

3 shared research output

David B. Goldstein

Institute for Genomic Medicine
Columbia University
Duke University
Institute for Genomic Medicine
Center for Human Genome Variation
University of Missouri
COLUMBIA

External person

3 shared research output

Yusuke Maeda

Research Institute for Microbial Diseases
Osaka University

External person

3 shared research output

Janet S. Sinsheimer

University of California at Los Angeles

External person

3 shared research output

Kosuke Izumi

Division of Oncology
University of Pennsylvania
The Children's Hospital of Philadelphia

External person

3 shared research output

Ertan Mayatepek

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

External person

3 shared research output

S. Vermeer

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

External person

3 shared research output

Daniel Doherty

University of Washington
PNW Research Station
Brotman Baty Institute for Precision Medicine

External person

3 shared research output

Johannes Häberle

University of Zurich
Department of Pediatrics
Division of Metabolism

External person

3 shared research output

S. Geb

Goethe University Frankfurt

External person

3 shared research output

Christine M. Eng

Department of Molecular and Human Genetics
Baylor College of Medicine
Baylor Miraca Genetics Laboratories
Department of Molecular and Human Genetics
Exome Laboratory
Baylor Miraca Genetics Laboratory
Baylor Genetics
Department of Molecular and Human Genetics
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
Department of Molecular and Human Genetics
Department of Molecular and Human Genetics
Baylor Genetics, LLC
Department of Molecular and Human Genetics
BCM
BCM

External person

3 shared research output

Ghayda M. Mirzaa

University of Washington
Section of Neonatology
Seattle Children's Research Institute
Children's Hospital and Regional Medical Center Seattle
Brotman Baty Institute for Precision Medicine
PNW Research Station

External person

3 shared research output

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

3 shared research output

Mercedes Serrano

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

External person

3 shared research output

I. A. Glass

University Department of Medical Genetics, University of Glasgow
Birmingham Maternity Hospital
University of Glasgow
Queen Elizabeth Hospital
Department of Medical Genetics
University Hospitals Birmingham NHS Foundation Trust
Women's and Children's Hospital Adelaide
Department of Cytogenetics and Molecular Genetics
University of Washington
PNW Research Station
Brotman Baty Institute for Precision Medicine

External person

3 shared research output

Joy Lee

Royal Children's Hospital
University of Melbourne

External person

3 shared research output

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
Mayo Clinic College of Medicine and Science

External person

3 shared research output

Loren D.M. Pena

University of Cincinnati
Cincinnati Children's Hospital Medical Center

External person

3 shared research output

Tuba F. Eminoglu

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

External person

3 shared research output

Matt Velinder

University of Utah

External person

3 shared research output

Jennifer L. Kemppainen

Mayo Clinic Rochester, MN
Clinical Genomics
Center for Individualized Medicine, Mayo Clinic
Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic
Mayo Clinic College of Medicine and Science
Mayo Clinic College of Medicine and Science

External person

3 shared research output

Athanasios E. Evangeliou

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

External person

3 shared research output

Jos C. Jansen

Department of Gastroenterology and Hepatology
Radboud University Nijmegen
Translational Metabolic Laboratory
University of Pennsylvania
The Children's Hospital of Philadelphia

External person

3 shared research output

John A. Phillips

Vanderbilt Univ. School of Medicine
Vanderbilt University
The Johns Hopkins Medical Institutions
Johns Hopkins University
Department of Pediatrics
Mayo Clinic Rochester, MN
Department of Biochemistry and Molecular Biology, Mayo Clinic
Vanderbilt Clinic

External person

3 shared research output

Deborah A. Nickerson

Department of Public Health Sciences
University of Washington
Department of Genome Sciences
University of Virginia
Brotman Baty Institute for Precision Medicine
Northwest Genomics Center
PNW Research Station
University of Washington
University of Washington

External person

3 shared research output

Colleen E. McCormack

Stanford University
Stanford

External person

3 shared research output

Mari Anne Vals

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

External person

3 shared research output

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

3 shared research output

Gavin R. Oliver

Mayo Clinic Scottsdale, AZ
Department of Health Sciences Research, Mayo Clinic
Almac Diagnostics
Mayo Clinic Rochester, MN
Department of Health Sciences Research, Mayo Clinic
Department of Health Sciences and Research, Mayo Clinic
Center for Individualized Medicine, Mayo Clinic
Department of Health Sciences Research, Mayo Clinic
Department of Biomedical Statistics
Division of Biomedical Statistics and Informatics, Mayo Clinic
Division of Biomedical Statistics and Informatics, Mayo Clinic
Department of Health Sciences Research, Mayo Clinic
Department of Health Sciences Research, Mayo Clinic
Department of Biomedical Statistics and Informatics, Mayo Clinic
Department of Health Sciences Research, Mayo Clinic
Department of Health Sciences Research, Mayo Clinic
Department of Health Sciences Research, Mayo Clinic
Department of Health Sciences Research, Mayo Clinic
Department of Health Sciences Research, Mayo Clinic
Department of Health Sciences Research, Mayo Clinic
Department of Health Sciences Research, Mayo Clinic
Department of Health Sciences Research, Mayo Clinic
Department of Health Sciences Research, Mayo Clinic
Department of Health Sciences Research, Mayo Clinic
Department of Health Sciences Research, Mayo Clinic
Department of Health Sciences Research, Mayo Clinic
Department of Health Sciences Research, Mayo Clinic
Department of Health Sciences Research, Mayo Clinic
Department of Health Sciences Research, Mayo Clinic
Department of Health Sciences Research, Mayo Clinic
Department of Health Sciences Research, Mayo Clinic
Department of Health Sciences Research, Mayo Clinic
Department of Health Sciences Research, Mayo Clinic
Department of Health Sciences Research, Mayo Clinic
Department of Health Sciences Research, Mayo Clinic
Department of Health Sciences Research, Mayo Clinic
Almac Group
Center for Individualized Medicine
Mayo Clinic College of Medicine and Science
Mayo Clinic College of Medicine and Science

External person

3 shared research output

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

3 shared research output

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
Nantes Université
Service de Génétique Médicale
Cancer Council Victoria
Inserm UMR 915 l'Institut du Thorax IRT
CHU Nantes
Institut national de la santé et de la recherche médicale

External person

3 shared research output

Jozef Hertecant

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

External person

3 shared research output

Sandrine Vuillaumier-Barrot

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

External person

3 shared research output

Lonneke De Boer

Radboud University Nijmegen
Department of Pediatrics
Nijmegen Center for Mitochondrial Disorders

External person

3 shared research output

Johannis B. De Klerk

Erasmus University Rotterdam

External person

3 shared research output

Sirisak Chanprasert

University of Washington
PNW Research Station

External person

3 shared research output

Jijun Wan

University of California at Los Angeles

External person

3 shared research output

Raoul C.M. Hennekam

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

External person

3 shared research output

John J. Mulvihill

University of Oklahoma
Univ. of Oklahoma Hlth. Sci. Center
Department of Pediatrics
Department of Pediatrics
National Institutes of Health

External person

3 shared research output

Nicholas Borja

University of Miami

External person

3 shared research output

Ingrid Hausser

Department of Dermatology
Heidelberg University
Institute of Pathology

External person

3 shared research output

Lee Kai Wang

University of California at Los Angeles

External person

3 shared research output

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

3 shared research output

Martin Lindner

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

External person

3 shared research output

Tammy M. McAllister

Mayo Clinic
Mayo Clinic Rochester, MN
Center for Individualized Medicine, Mayo Clinic
Center for Individualized Medicine
Department of Health Sciences and Research, Mayo Clinic
Mayo Clinic College of Medicine and Science
Mayo Clinic College of Medicine and Science

External person

3 shared research output

Yoshinao Wada

Osaka Medical Center
Research Institute, Osaka Medical Center for Maternal and Child Health
Osaka Medical Center
Osaka Prefectural Hospital Organization
Osaka Women's and Children's Hospital

External person

3 shared research output

H. I. Aydin

Hacettepe University

External person

3 shared research output

Jacinda B. Sampson

Stanford University
Stanford
Stanford Center for Undiagnosed Diseases

External person

3 shared research output

Brigitte Chabrol

Assistance publique - Hôpitaux de Marseille
Hôpital de la Timone

External person

3 shared research output

Rory J. Olson

Mayo Clinic Rochester, MN
Department of Biochemistry and Molecular Biology, Mayo Clinic
Mayo Clinic College of Medicine and Science
Dept. of Biochem. and Molec. Biology
Mayo Clinic College of Medicine and Science

External person

3 shared research output

Chong A. Kim

Genetics Unity
Universidade de São Paulo
Genetics Unit

External person

3 shared research output

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

3 shared research output

Lesa J. Beamer

Biochemistry and Chemistry Departments
University of Missouri
Biochemistry Department

External person

3 shared research output

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

3 shared research output

Jessica Tarnowski

Mayo Clinic Rochester, MN

External person

3 shared research output

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

3 shared research output

Matteo P. Ferla

University of Oxford

External person

3 shared research output

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

3 shared research output

Chris A. Walsh

Departments of Neurology and Pediatrics
Broad Institute
Harvard University
Division of Genetics and Genomics
Department of Neurology
Division of Genetics
Department of Pediatrics
Department of Neurology
Division of Neurogenetics
Harvard
Harvard
Washington University St. Louis
Boston Children's Hospital
Brigham and Women’s Hospital

External person

3 shared research output

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

3 shared research output

Mariska Davids

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

External person

3 shared research output

Sema Kalkan Ucar

Division of Metabolic Disease
Ege University

External person

3 shared research output

Kristin G. Monaghan

GeneDX Inc
OPKO Health, Inc.

External person

3 shared research output

Amy Goldstein

University of Pennsylvania
Tulane University
The Children's Hospital of Philadelphia

External person

3 shared research output

Linda Hasadsri

Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic
Mayo Clinic Rochester, MN
Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic
Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic
Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic
Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic
Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic
Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic
Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic
Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic
Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic
Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic
Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic
Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic
Department of Laboratory Medicine and Pathology; Genomics Laboratory
Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic
Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic
Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic
Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic
Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic
Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic
Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic
Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic
Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic
Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic
Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic
Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic
Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic
Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic
Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic
Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic
Division of Laboratory Genetics and Genomics
Molecular Genetics Laboratory
Radboud Center for Mitochondrial Medicine
Radboud University Nijmegen