Calculated based on number of publications stored in Pure and citations from Scopus
1990 …2024

Research activity per year

Network

George A. Diaz

  • Mount Sinai School of Medicine
  • Department of Pediatrics
  • Howard Hughes Medical Institute
  • George Washington University
  • Icahn School of Medicine at Mount Sinai
  • Fred Hutchinson Cancer Research Center
  • Department of Genetics and Genomic Sciences
  • Department of Genetics and Genomic Sciences
  • Department of Pediatrics
  • Vaccine and Infectious Disease Division
  • Department of Pediatrics

External person

Susan A. Berry

  • University of Minnesota Twin Cities
  • Howard Hughes Medical Institute
  • George Washington University
  • Division of Genetics and Metabolism
  • Department of Pediatrics
  • Department of Laboratory Animal Medicine
  • Stanford University
  • the Department of Pediatrics
  • Division of Pediatric Endocrinology
  • Department of Medicine
  • Institute of Human Genetics
  • Div. Ped. Pulmon./Critic. Care Med.
  • Department of Pediatrics
  • Department of Pediatrics
  • University of Pittsburgh

External person

Shawn E. McCandless

  • Case Western Reserve University
  • Howard Hughes Medical Institute
  • George Washington University
  • Department of Genetics and Genome Sciences
  • Department of Pediatrics
  • Center for Human Genetics
  • Case Medical Center
  • University of Colorado Denver
  • The Children's Hospital, Aurora
  • School of Medicine
  • Section of Genetics and Metabolism
  • Children’s Hospital Colorado
  • Department of Pediatrics
  • The Children's Hospital, Aurora
  • University of Colorado Anschutz Medical Campus
  • Children’s Hospital Colorado
  • University of Colorado Department of Pediatrics

External person

N. Longo

  • Division of Medical Genetics
  • University of Utah
  • Univ. of UT
  • Division of Medical Genetics
  • Departments of Medical Genetics and Pediatrics
  • Department of Pediatrics

External person

Uta Lichter-Konecki

  • Children's National Medical Center
  • Howard Hughes Medical Institute
  • George Washington University
  • Drexel University
  • University of Pittsburgh
  • Division of Genetics and Metabolism
  • Department of Pediatrics
  • Department of Pediatrics

External person

Andreas Schulze

  • University of Toronto
  • Howard Hughes Medical Institute
  • Department of Pediatrics
  • George Washington University
  • Division of Clinical and Metabolic Genetics
  • Peter Gilgan Center for Research and Learning

External person

Beat Thöny

  • University of Zürich
  • University of Zurich
  • University Children's Hospital
  • University of Zurich
  • Department of Pediatrics
  • Division of Clinical Chemistry and Biochemistry
  • Division of Metabolism and Children's Research Centre (CRC)
  • Department of Pediatrics
  • Division of Clinical Chemistry and Biochemistry
  • Swiss Federal Institute of Technology Zurich

External person

Sandesh C. Nagamani

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

External person

Brendan Lee

  • Howard Hughes Medical Institute
  • Baylor College of Medicine
  • George Washington University
  • National Institutes of Health, Bethesda
  • Howard Hughes Medical Institutes
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Dept of Molecular and Human Genetics
  • Department of Pediatrics
  • Department of Pediatrics
  • National Institutes of Health
  • Texas Children's Hospital Houston
  • BCM

External person

J. Vockley

  • Children's Hospital of Pittsburgh
  • University of Pittsburgh
  • Department of Human Genetics
  • Department of Pediatrics
  • School of Medicine
  • Division of Medical Genetics
  • Department of Human Genetics
  • Mayo Clinic Rochester, MN
  • Harvard University
  • Graduate School of Public Health

External person

Jon Wolff

  • University of Wisconsin Medical School
  • University of Wisconsin-Madison
  • University of South Florida
  • Biochemical Genetics Program
  • Univ. of Wisconsin Medical School
  • University of Wisconsin at Madison
  • Department of Pediatrics
  • Biochemical Genetics Program
  • Dept. of Med. Genetics and Neurology
  • Dept. of Pediat./Medical Genetics
  • Department of Medical Genetics
  • Department of Pediatrics
  • Biochemical Genetics Program
  • Department of Medical Genetics
  • Department of Medical Genetics

External person

Barbara K. Burton

  • Ann and Robert H. Lurie Children's Hospital of Chicago
  • Northwestern University
  • Children's Memorial Hospital
  • National Institutes of Health, Bethesda
  • Department of Pediatrics
  • Department of Pediatrics
  • Cognitive Neurology and Alzheimer's Disease Center
  • Division of Genetics
  • Department of Medical Genetics
  • National Institutes of Health
  • University of Pittsburgh

External person

Derek Wong

  • Howard Hughes Medical Institute
  • University of California at Los Angeles
  • Division of Pediatric Pulmonology

External person

Stephen Cederbaum

  • University of California at Los Angeles
  • Howard Hughes Medical Institute
  • George Washington University
  • UCLA
  • University of Southern California
  • Department of Pediatrics
  • Departments of Psychiatry, Pediatrics and Human Genetics
  • Department of Pediatrics
  • Children's Hospital Los Angeles

External person

Annette Feigenbaum

  • University of Toronto
  • Howard Hughes Medical Institute
  • Division of Clinical and Metabolic Genetics
  • Rady Children's Hospital
  • University of California at San Diego
  • Division of Clinical and Metabolic Genetics
  • Division of Clinical and Metabolic Genetics

External person

Shelley R. Winn

  • Oregon Health and Science University
  • Department of Molecular and Medical Genetics
  • Department of Molecular and Medical Genetics
  • Division of Plastic and Reconstructive Surgery
  • Department of Surgery
  • Department of Restorative Dentistry
  • Oregon Hearing Research Center

External person

Georg F. Hoffmann

  • University Children's Hospital
  • Howard Hughes Medical Institute
  • University Children's Hospital of Heidelberg
  • University of Heidelberg
  • George Washington University
  • University Hospital Heidelberg
  • University Children's Hospital Heidelberg
  • Zentrum für Kinder- und Jugendmedizin
  • Department of General Paediatrics
  • Department of General Pediatrics
  • Heidelberg University 
  • Div. of Metab. and Endocr. Diseases
  • Division of Pediatric Pulmonology
  • Department of Pediatrics
  • Department of General Pediatrics
  • Centre for Pediatric and Adolescent Medicine
  • Center for Pediatric and Adolescent Medicine
  • Department of Pediatrics

External person

Matthias Baumgartner

  • University Children's Hospital
  • Howard Hughes Medical Institute
  • Stoffwechsel und Molekulare Pädiatrie
  • George Washington University
  • University of Zurich
  • Department of Pediatrics
  • Division of Metabolism and Children's Research Centre (CRC)
  • Department of Pediatrics

External person

Renata C. Gallagher

  • The Children's Hospital, Aurora
  • Children's Hospital Colorado
  • Howard Hughes Medical Institute
  • Stanford University
  • George Washington University
  • University of California at San Francisco
  • University of California Office of the President
  • Clinical Genetics
  • Department of Pediatrics
  • Department of Pediatrics
  • The Children's Hospital, Aurora

External person

Wendy Smith

  • Maine Medical Center
  • Department of Pediatrics Maine Medical Center
  • Maine Medical Partners

External person

Susan Waisbren

  • Harvard University
  • Howard Hughes Medical Institute
  • Boston Children's Hospital, Harvard Medical School
  • Boston Children's Hospital

External person

Tamar Stricker

  • University Children's Hospital
  • Howard Hughes Medical Institute
  • George Washington University
  • University of Zurich
  • Department of Pediatrics
  • Department of Pediatrics

External person

Roberto Zori

  • University of Florida
  • Department of Pediatrics/Genetics and Metabolism
  • Department of Pediatrics
  • Department of Pediatrics
  • Raymond C. Philips Unit

External person

Marc Yudkoff

  • Children's Hospital of Philadelphia
  • University of Pennsylvania
  • Howard Hughes Medical Institute
  • Department of Pediatrics
  • George Washington University
  • The Children's Hospital of Philadelphia

External person

Dietrich Matern

  • Mayo Clinic College of Medicine
  • Mayo Clinic Rochester, MN
  • Dept. of Lab. Med. and Pathology
  • Medical Genetics
  • Mayo Clinic College of Medicine and Science
  • University of Rochester
  • Medical Genetics
  • Department of Laboratory Medicine and Pathology
  • Department of Laboratory Medicine and Pathology
  • Biochemical Genetics Laboratory
  • Departments of Laboratory Medicine and Pathology
  • Departments of Laboratory Medicine and Pathology
  • Biochemical Genetics Laboratory
  • Department of Laboratory Medicine and Pathology
  • Biochemical Genetics Laboratory
  • Mayo Clinic College of Medicine and Science

External person

J. Lawrence Merritt

  • Children's Hospital and Regional Medical Center Seattle
  • University of Washington
  • Seattle Children's Hospital

External person

C. Le Mons

  • National Urea Cycle Disorders Foundation
  • National Urea Cycle Disorders Foundation
  • National Urea Cycle Disorders Foundation
  • National Urea Cycle Disorders Foundation
  • National Urea Cycle Disorders Foundation
  • National Urea Cycle Disorders Foundation
  • National Urea Cycle Disorders Foundation
  • National Urea Cycle Disorders Foundation
  • National Urea Cycle Disorders Foundation
  • National Urea Cycle Disorders Foundation (NUCDF)

External person

Masoud Mokhtarani

  • Hyperion Therapeutics
  • Horizon Pharma
  • Horizon Therapeutics Inc.
  • Immune Tolerance Network
  • Hyperion Therapeutics
  • Horizon Therapeutics
  • Horizon Therapeutics Inc.
  • Horizon Therapeutics Inc.
  • Horizon Therapeutics Inc.
  • Horizon Therapeutics Inc.
  • Horizon Therapeutics Inc.
  • Horizon Therapeutics plc
  • Horizon Pharma, Inc., USA

External person

Lindsay C. Burrage

  • Baylor College of Medicine
  • National Institutes of Health, Bethesda
  • Model Organism Screening Center
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • National Institutes of Health
  • Texas Children's Hospital Houston
  • BCM

External person

Bruce F. Scharschmidt

  • Hyperion Therapeutics
  • Horizon Pharma
  • Horizon Therapeutics Inc.
  • Hyperion Therapeutics
  • Horizon Therapeutics
  • Horizon Therapeutics Inc.
  • Horizon Therapeutics Inc.
  • Horizon Therapeutics Inc.
  • Horizon Therapeutics Inc.
  • Horizon Therapeutics Inc.
  • Horizon Therapeutics plc
  • Horizon Pharma, Inc., USA

External person

Dion F. Coakley

  • Hyperion Therapeutics
  • Hyperion Therapeutics
  • Horizon Therapeutics
  • Horizon Therapeutics plc
  • Horizon Pharma, Inc., USA

External person

Mendel Tuchman

  • Children's National Medical Center
  • Howard Hughes Medical Institute
  • Children's National Health System
  • Children's Research Institute
  • George Washington University

External person

Jennifer Seminara

  • Children's National Medical Center
  • Children's National Health System
  • Children's Research Institute
  • George Washington University
  • Children’s Research Institute
  • Children’s Research Institute
  • Children’s National Hospital

External person

W. Rhead

  • Medical College of Wisconsin
  • The Medical College of Wisconsin
  • University of Pittsburgh
  • Children's Hospital of Wisconsin Wauwatosa

External person

W. Berquist

  • Stanford University
  • Dept. of Anesthesiology/Pediatrics
  • Lucille Packard Children's Hospital
  • Lucille Packard Children's Hospital

External person

J. Lawrence Merritt

  • University of Washington
  • Seattle Children's Hospital
  • Howard Hughes Medical Institute
  • George Washington University
  • Children's Hospital and Regional Medical Center Seattle
  • Pediatrics
  • Department of Pediatrics
  • Department of Pediatrics
  • Seattle Children's Hospital

External person

Gregory M. Enns

  • Stanford University
  • Department of Pediatrics
  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • University of California at San Francisco
  • Lucille Packard Children's Hospital

External person

Mark L. Batshaw

  • Children's National Medical Center
  • Howard Hughes Medical Institute
  • Children's National Health System
  • Children's Research Institute
  • George Washington University
  • Children’s Research Institute
  • Children’s Research Institute

External person

James Bartley

  • Long Beach Memorial Medical Center

External person

D. Bartholomew

  • Nationwide Children's Hospital
  • Nationwide Children’s Hospital
  • Nationwide
  • Division of Molecular and Human Genetics
  • Division of Molecular and Human Genetics
  • University of Pittsburgh

External person

Renata C. Gallagher

  • University of California at San Francisco

External person

Andrea L. Gropman

  • Children's National Medical Center
  • Children's National Medical Center
  • UDP
  • Division of Neurodevelopmental Disabilities and Neurogenetics
  • George Washington University
  • National Institutes of Health, Bethesda
  • Department of Neurology
  • Department of Neurology
  • National Institutes of Health

External person

Frances J. Rohr

  • Boston Children's Hospital
  • Harvard University
  • Nutrition Center
  • Met Ed Co
  • Boston Children's Hospital

External person

D. Dobbelaere

  • Hôpital Jeanne de Flandres
  • Hôpital Jeanne de Flandre
  • Centre de Référence Maladies Héréditaires du Métabolisme de l’Enfant et de l’Adulte
  • Universite de Lille 2
  • Université de Lille

External person

David Kronn

  • Westchester Medical Center
  • New York University
  • University of Pittsburgh
  • New York Medical College

External person

Stefan Kölker

  • University Children's Hospital
  • Division of Inborn Metabolic Diseases
  • University Children's Hospital Heidelberg
  • University Hospital Heidelberg
  • Univ. Children's Hospital Heidelberg
  • Div. of Metab. and Endocr. Diseases
  • Department of General Paediatrics
  • Department of General Pediatrics
  • Heidelberg University 
  • Dept. of General Pediatrics
  • Department of General Pediatrics
  • Department of General Pediatrics
  • Div. of Metab. and Endocr. Diseases
  • Centre for Pediatric and Adolescent Medicine
  • Center for Pediatric and Adolescent Medicine

External person

Peter Burgard

  • University Children's Hospital Heidelberg
  • University Hospital Heidelberg
  • University Children's Hospital
  • Department of General Pediatrics
  • Heidelberg University 
  • Centre for Child and Adolescent Medicine
  • Department of General Pediatrics
  • Department of General Paediatrics
  • Centre for Pediatric and Adolescent Medicine
  • Center for Pediatric and Adolescent Medicine

External person

Cynthia LeMons

  • National Urea Cycle Disorders Foundation (NUCDF)
  • National Urea Cycle Disorders Foundation
  • George Washington University
  • The National Urea Cycle Disorders Foundation
  • National Urea Cycle Disorders Foundation
  • Department of Pediatrics
  • Department of Pediatrics

External person

Gerard T. Berry

  • Boston Children's Hospital, Harvard Medical School
  • Johns Hopkins University
  • Harvard University
  • Division of Genetics and Genomics
  • Department of Pediatrics
  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • Broad Institute
  • Harvard
  • Boston Children's Hospital

External person

Curtis Coughlin

  • University of Colorado Denver
  • University of Colorado Anschutz Medical Campus
  • Children’s Hospital Colorado
  • University of Colorado Department of Pediatrics

External person

Dorothy K. Grange

  • Department of Pediatrics
  • Washington University St. Louis

External person

Margretta R. Seashore

  • Yale University
  • Howard Hughes Medical Institute
  • George Washington University
  • Department of Pediatrics
  • Department of Pediatrics and Genetics
  • Department of Pediatrics

External person

Alberto B. Burlina

  • Azienda Ospedaliera di Padova
  • U.O.C. Malattie Metaboliche Ereditarie
  • Metabolic Unit

External person

Carlo Dionisi-Vici

  • Bambino Gesu' Children's Hospital
  • IRCCS Ospedale pediatrico Bambino Gesù - Roma
  • Division of Metabolism

External person

Janet A. Thomas

  • University of Colorado Denver
  • IMD Clinic
  • Children's Hospital Denver
  • Department of Pediatrics
  • Clinical Genetics and Metabolism
  • The Children's Hospital
  • Division of Clinical Genetics and Metabolism
  • Department of Pediatrics
  • Metabolic Diseases Clinic
  • University of Pittsburgh
  • University of Colorado Anschutz Medical Campus
  • University of Colorado Department of Pediatrics

External person

Zhonghua Gu

  • BioMarin Pharmaceutical
  • BioMarin Pharmaceutical Inc.

External person

Tanja Scherer

  • University of Zurich
  • Department of Pediatrics
  • Division of Metabolism and Children's Research Centre (CRC)

External person

Douglas S. Kerr

  • Case Western Reserve University
  • Rainbow Babies and Children's Hosp.
  • Howard Hughes Medical Institute
  • George Washington University
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Pediatrics
  • Rainbow Babies and Children's Hosp.

External person

Roland Posset

  • Heidelberg University 
  • Department of General Paediatrics
  • Centre for Pediatric and Adolescent Medicine
  • Center for Pediatric and Adolescent Medicine

External person

M. S. Korson

  • Tufts University
  • Tufts Medical Center

External person

Marshall Summar

  • Vanderbilt University Medical Center
  • Children's National Medical Center
  • Howard Hughes Medical Institute
  • Children's National Health System
  • VA Medical Center
  • Division of Genetics and Metabolism
  • Children's Research Institute
  • Rare Disease Institute
  • Vanderbilt University

External person

Sven F. Garbade

  • University Children's Hospital Heidelberg
  • Department of General Pediatrics
  • Heidelberg University 
  • Centre for Pediatric and Adolescent Medicine
  • Center for Pediatric and Adolescent Medicine

External person

Marshall Summar

  • Rare Disease Institute
  • Children's National Medical Center
  • Department of Pediatrics
  • George Washington University

External person

Jirair K. Bedoyan

  • Center for Human Genetics and Department of Genetics and Genome Sciences
  • Case Western Reserve University
  • University of Pittsburgh

External person

Klara Dickinson

  • Hyperion Therapeutics
  • Anthera Pharmaceuticals
  • Anthera Pharmaceuticals
  • Anthera Pharmaceuticals
  • Anthera Pharmaceuticals
  • Anthera Pharmaceuticals
  • Anthera Pharmaceuticals
  • Anthera Pharmaceuticals
  • Anthera Pharmaceuticals

External person

Ivo Barić

  • University of Zagreb

External person

Deborah Bilder

  • University of Utah
  • Department of Psychiatry
  • Psychiatry
  • Icahn School of Medicine at Mount Sinai

External person

Florian Gleich

  • Centre for Pediatric and Adolescent Medicine
  • Heidelberg University 

External person

Haoling H. Weng

  • BioMarin Pharmaceutical Inc.

External person

Harvey L. Levy

  • Boston Children's Hospital, Harvard Medical School
  • Harvard University
  • Division of Genetics and Genomics
  • Department of Pediatrics
  • Boston Children's Hospital

External person

Dwight D. Koeberl

  • Duke University Medical Center
  • Duke University Medical School
  • Duke University
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Pediatrics
  • University of Pittsburgh

External person

Gabriela Elizondo

  • Oregon Health and Science University
  • Department of Molecular and Medical Genetics
  • Graduate Programs in Human Nutrition

External person

Piero Rinaldo

  • Mayo Clinic College of Medicine
  • Dept. of Lab. Med. and Pathology
  • Mayo Clinic Rochester, MN
  • Mayo Clinic College of Medicine and Science
  • Department of Laboratory Medicine and Pathology
  • Department of Laboratory Medicine and Pathology
  • Biochemical Genetics Laboratory
  • Biochemical Genetics Laboratory
  • Mayo College, Rajasthan
  • Mayo Clinic College of Medicine and Science

External person

Robert McCarter

  • George Washington University
  • Department of Pediatrics
  • Department of Pediatrics
  • Children’s National Health Center
  • Children's National Medical Center
  • Children’s National Hospital

External person

Joseph B. Lillegard

  • Department of Pediatric General Thoracic and Fetal Surgery
  • Mayo Medical Center
  • University of Pennsylvania
  • Mayo Clinic Rochester, MN
  • University of Minnesota Twin Cities
  • Department of Surgery
  • Midwest Fetal Care Center
  • Children's Hospital of Philadelphia
  • Midwest Fetal Care Center
  • Children’s Hospitals and Clinics of Minnesota
  • Pediatric Surgical Associates
  • Children's Hospitals and Clinics of Minnesota
  • The Children's Hospital of Philadelphia

External person

Matthias Zielonka

  • Center for Pediatric and Adolescent Medicine
  • Heidelberg Research Center for Molecular Medicine (HRCMM)
  • Heidelberg University 
  • Heidelberg Research Center for Molecular Medicine (HRCMM)

External person

Laurie D. Smith

  • Oregon Health and Science University
  • Children's Mercy Hospitals and Clinics
  • Section of Medical Genetics and Molecular Medicine
  • Children's Mercy Hospital
  • Department of Molecular and Medical Genetics
  • Scripps Research Institute
  • University of North Carolina at Chapel Hill
  • University of Florida

External person

Angels García Cazorla

  • University of Barcelona
  • Department of Neurology
  • Neurology and Metabolism Department
  • Hospital Sant Joan de Deu
  • CIBER - Center for Biomedical Research Network
  • Instituto de Salud Carlos III

External person

Kevin Larimore

  • BioMarin Pharmaceutical Inc.

External person

Raymond D. Hickey

  • Mayo Clinic Rochester, MN
  • Oregon Health and Sciences University
  • Oregon Health and Science University
  • Department of Surgery
  • Department of Molecular Medicine
  • The Oregon Stem Cell Center
  • Department of Molecular and Medical Genetics
  • Center for Individualized Medicine
  • Papé Family Pediatric Research Institute

External person

Sandra Dudley

  • Oregon Health Sciences University
  • L103 OR Hlth. and Science University
  • Oregon Health and Science University
  • Department of Molecular and Medical Genetics

External person

Jerry Vockley

  • University of Pittsburgh
  • School of Medicine
  • Department of Medical Genetics
  • Department of Human Genetics
  • Department of Human Genetics
  • Department of Pediatrics
  • Graduate School of Public Health

External person

Ania C. Muntau

  • Ludwig-Maximilians University
  • Ludwig Maximilian University of Munich
  • Department of Inborn Errors of Metabolism
  • Department of Molecular Pediatrics
  • University of Pittsburgh
  • University of Hamburg

External person

Krzysztof Wild

  • University of Wisconsin-Madison
  • Univ. of Wisconsin Medical School
  • OR Health and Sciences University
  • Oregon Health and Science University
  • Department of Pediatrics
  • Biochemical Genetics Program
  • Department of Pediatrics
  • Department of Pediatrics
  • University of Portland

External person

Tristen Moors

  • Hyperion Therapeutics

External person

Peter Freisinger

  • Klinikum am Steinenberg
  • Klinik für Kinder und Jugendmedizin
  • Klinikum am Steinenberg
  • Klinikum Reutlingen

External person

Francjan van Spronsen

  • University of Groningen, University Medical Center of Groningen, Beatrix Children's Hospital
  • University of Groningen

External person

L. A. Barness

  • University of South Florida
  • Biochemical Genetics Program
  • University of Wisconsin-Madison
  • Department of Pediatrics
  • Department of Pediatrics

External person

Nicholas Ah Mew

  • Children's National Medical Center
  • George Washington University
  • Children’s National Hospital

External person

Nenad Blau

  • University of Zurich
  • Heidelberg University 
  • Division of Clinical Chemistry and Biochemistry

External person

H. Northrup

  • Northwestern University
  • University of Texas Health Science Center at Houston
  • Division of Child and Adolescent Neurology

External person

François Eyskens

  • Univeritair Ziekenhaus Anterpen
  • University of Antwerp
  • Univeritair Ziekenhaus Anterpen
  • Center of Inherited Metabolic Diseases

External person

Milton J. Finegold

  • Baylor College of Medicine
  • Oregon Health Sciences University, Portland
  • University of Leon
  • Oregon Health and Science University
  • Department of Pathology
  • Department of Pathology
  • Department of Pathology
  • Department of Pathology
  • Department of Molecular and Medical Genetics
  • Dan L. Duncan Cancer Center
  • Department of Pathology
  • Texas Children's Hospital Houston

External person

Jaime Glorioso

  • Mayo Clinic Rochester, MN
  • Department of Surgery

External person

Zhaobing Ding

  • Agency for Science, Technology and Research, Singapore
  • University of Zürich
  • University of Zurich
  • Division of Clinical Chemistry and Biochemistry
  • Department of Pediatrics
  • Department of Pediatrics

External person

Mingjin Li

  • BioMarin Pharmaceutical Inc.

External person

Nicole Rimann

  • University of Zurich

External person

Scott L. Nyberg

  • Mayo Clinic Rochester, MN
  • Mayo Medical Center
  • Department of Surgery
  • William J. von Liebig Center for Transplantation and Clinical Regeneration

External person

K. Michael Gibson

  • University of Pittsburgh
  • Washington State University Pullman
  • Oregon Health Sciences University
  • Michigan Technological University
  • Oregon Health Science University
  • Division of Endocrinology
  • Biochemical Genetics Laboratory
  • University of Leon
  • Oregon Health and Science University
  • Washington State University Spokane
  • Vrije Universiteit Amsterdam
  • Department of Pharmacotherapy
  • Division of Experimental and Systems Pharmacology
  • Department of Molecular and Medical Genetics
  • Department of Surgery
  • Department of Pathology
  • Section of Clinical Pharmacology
  • Department of Pediatrics
  • Department of Biological Sciences
  • Department of Medicine
  • College of Pharmacy
  • Dept. of Molecular/Medical Genetics
  • Metabolic Unit
  • Biochemical Genetics Program
  • Biochemical Genetics Laboratory
  • Experimental and Systems Pharmacology
  • Department of Pediatrics
  • VU University Medical Center

External person

Georgianne L. Arnold

  • University of Rochester
  • Department of Pediatrics
  • Department of Pediatrics
  • Genetic Metabolic Center for Education
  • University of Pittsburgh

External person

Roberto Zori

  • University of Florida

External person

Bruce Amiot

  • Mayo Clinic Rochester, MN
  • Brami Biomedical Inc
  • Department of Surgery

External person

Elisenda Cortès-Saladelafont

  • Autonomous University of Barcelona
  • CIBER - Center for Biomedical Research Network
  • Instituto de Salud Carlos III

External person

Annet M. Bosch

  • Department of Pediatrics
  • University of Amsterdam
  • Academic Medical Center Amsterdam

External person

Markus Merilainen

  • BioMarin Pharmaceutical Inc.
  • Research and Development

External person

Shennen A. Mao

  • Mayo Clinic Rochester, MN
  • Department of Surgery

External person

James Weisfeld-Adams

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

External person

Soumi Gupta

  • BioMarin Pharmaceutical Inc.

External person

Benjamin S. Wilfond

  • University of Washington
  • University of Arizona
  • Children's Hospital and Regional Medical Center Seattle
  • Seattle Children's Research Institute
  • Department of Pediatrics
  • Seattle Children's Research Institute
  • Treuman Katz Center for Pediatric Bioethics
  • Division of Pulmonary and Sleep Medicine
  • Treuman Katz Center for Pediatric Bioethics
  • Department of Pediatrics
  • Divison of Bioethics
  • Treuman Katz Center for Pediatric Bioethics
  • Stanford University
  • Seattle Children's Research Institute
  • Seattle Children's Hospital

External person

Bruce A. Barshop

  • University of California San Diego
  • Rady Children's Hospital
  • University of California San Diego-Rady Children's Hospital
  • University of California at San Diego
  • Pediatrics
  • Department of Pediatrics
  • Department of Pediatrics, Division of Pediatric Cardiology

External person

Julie M. Martin

  • Oregon Health and Science University
  • Department of Molecular and Medical Genetics
  • Graduate Programs in Human Nutrition

External person

Jürgen G. Okun

  • University Children's Hospital
  • University Children's Hospital of Heidelberg
  • University Children's Hospital Heidelberg
  • Univ. Children's Hospital Heidelberg
  • Department of General Paediatrics
  • Department of General Pediatrics
  • Div. of Metab. and Endocr. Diseases
  • Heidelberg University 
  • Department of General Pediatrics

External person

Joy Olbertz

  • BioMarin Pharmaceutical Inc.
  • Research and Development

External person

Hiu Man Grisch-Chan

  • University of Zurich
  • Department of Pediatrics
  • Division of Metabolism and Children's Research Centre (CRC)

External person

G. Vockley

  • Children's Hospital of Pittsburgh
  • University of Pittsburgh

External person

Krista Viau

  • Division of Genetics and Genomics
  • Harvard University
  • Boston Children's Hospital

External person

Douglas A. Milikien

  • Accudata Solutions Inc.

External person

Nicholas Ah Mew

  • Children's National Medical Center
  • Children’s Research Institute
  • George Washington University
  • Children’s Research Institute

External person

Richard Pauli

  • University of Wisconsin-Madison
  • Harvard Vanguard Medical Association
  • Children's National Medical Center
  • University of Wisconsin-Madison
  • Karolinska Institutet
  • University of Utah
  • Department of Health and Human
  • Tel Aviv Sourasky Medical Center
  • Columbia University
  • University of Cambridge
  • University of Groningen
  • Drexel University
  • Oregon Health and Science University
  • Brown University
  • West Midlands Perinatal Institute
  • National Institutes of Health, Bethesda
  • Biochemical Genetics Program
  • Department of Medical Genetics
  • Department of Medical Genetics
  • School of Pharmacy
  • National Institutes of Health
  • Division of Pediatric Critical Care Medicine

External person

H. Serap Sivri

  • Hacettepe University
  • Harvard University
  • Boston Children's Hospital

External person

Javier Blasco-Alonso

  • Hospital Materno-Infantil de Malaga

External person

Andrew E. Mulberg

  • U.S. Food and Drug Administration
  • United States Food and Drug Administration
  • Center for Drug Evaluation and Research

External person

Jonathan S. Berg

  • University of North Carolina at Chapel Hill
  • Department of Genetics

External person

Dianne M. Frazier

  • University of North Carolina
  • University of North Carolina Chapel Hill
  • University of North Carolina at Chapel Hill

External person

Gail P. Jarvik

  • University of Washington
  • Department of Medicine (Medical Genetics)
  • Dept. of Genome Science/Medicine
  • Center for Mendelian Genomics
  • Department of Medicine
  • Department of Genome Sciences
  • Clinical Sequencing Exploratory Research Coordinating Center
  • Department of Medicine
  • Division of Medical Genetics
  • Department of Medicine (Medical Genetics)
  • Departments of Genome Sciences and Medicine
  • Clinical Sequencing Exploratory Research Coordinating Center
  • Division of Medical Genetics
  • University of Washington
  • University of Washington
  • Department of Genome Sciences
  • Department of Medicine

External person

R. Rowell

  • MED Technical Consulting, Inc.
  • BioMarin Pharmaceutical Inc.

External person

Beth Robinson

  • Horizon Therapeutics plc

External person

Kari Allen

  • Department of Surgery
  • Mayo Clinic Rochester, MN

External person

Frank Rutsch

  • Department of General Pediatrics, Pediatric Nephrology
  • University of Münster

External person

David Dimmock

  • Children's Hospital of Wisconsin Wauwatosa
  • Rady Children's Institute for Genomic Medicine
  • Department of Pediatrics
  • Medical College of Wisconsin
  • University of Colorado Denver
  • Divisions of Cardiology
  • University of Pittsburgh
  • University of Colorado Anschutz Medical Campus

External person

David S. Rosenblatt

  • McGill University
  • Royal Victoria Hospital Barrie
  • Department of Human Genetics
  • Departments of Medicine, Pediatrics, and Human Genetics
  • Department of Pathology
  • Johns Hopkins University
  • Division of Medical Genetics
  • Department of Pediatrics

External person

Kathryn M. Camp

  • National Institutes of Health, Bethesda
  • Office of Dietary Supplements
  • National Institutes of Health

External person

Kristin Lindstrom

  • Phoenix Children's Hospital
  • BioMarin Pharmaceutical Inc.

External person

Lina Elzaouk

  • University of Zürich
  • University Children's Hospital
  • University of Zurich
  • Department of Pediatrics
  • Division of Clinical Chemistry and Biochemistry
  • Department of Pediatrics

External person

Melissa A. Parisi

  • Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health
  • National Institutes of Health
  • NIH
  • Univ. of Washington Sch. of Medicine
  • National Institutes of Health
  • University of Washington
  • Department of Pediatrics

External person

Joy Jiang

  • BioMarin Pharmaceutical Inc.
  • Research and Development

External person

Sean Nygaard

  • Oregon Health and Science University
  • The Oregon Stem Cell Center
  • Department of Molecular and Medical Genetics

External person

Persephone Augoustides-Savvopoulou

  • Aristotle University of Thessaloniki
  • University 1st Pediatric Department

External person

Robert D. Steiner

  • Marshfield Clinic
  • Oregon Health and Science University
  • University of Wisconsin-Madison
  • Oregon Clinic
  • Oregon Health and Science University
  • CDRCF
  • Marshfield Clinic Research Foundation, University of Wisconsin
  • Oregon Health and Sciences University
  • University of Washington
  • Translational Research Institute
  • AB SCIEX
  • CDRC-F
  • Oregon Health Sciences University
  • CDRC-P
  • AB Sciex
  • Child Development/Rehab. Center
  • Chemistry and Consumables R and D
  • Department of Molecular and Medical Genetics
  • Department of Pediatrics
  • Department of Pathology
  • Department of Pediatrics
  • Department of Pediatrics
  • Dept. of Physiology and Pharmacology, L334
  • Department of Surgery
  • Department of Molecular Medical Genetics
  • Department of Pediatrics
  • Institute on Development and Disability
  • Department of Pediatrics
  • Departments of Pediatrics and Molecular and Medical Genetics
  • Division of Pediatric Critical Care Medicine
  • Departments of Pediatrics and Molecular and Medical Genetics
  • Institute on Development and DisabilityOregon Health and Science UniversityPortland
  • Institute on Development and Disability
  • Department of Pédiatrie and Child Development
  • Section of Clinical Nutrition
  • Department of Medicine
  • Division of Endocrinology
  • Infectious Disease
  • Department of Pediatrics
  • Depts. Pediat. Molec. Med. Genet.
  • Center for Human Genetics
  • Child and Adolescent Psychiatrist
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Pediatrics and Molecular and Medical Genetics
  • Department of Pediatrics
  • Science University
  • Department of Pediatrics, Oregon Health
  • Department of Molecular and Medical Genetics
  • Department of Pediatrics
  • School of Medicine
  • The Oregon Clinic
  • University of Wisconsin-Stevens Point
  • Department of Medicine
  • University of Wisconsin
  • Department of Physiology and Pharmacology
  • Dept. of Med. Genetics and Neurology
  • Douglas Hospital Research Center
  • Danaher Corporation
  • McGill University

External person

Can Ficicioglu

  • University of Pennsylvania School of Medicine
  • University of Pennsylvania
  • Department of Pediatrics
  • Department of Pediatrics
  • The Children's Hospital of Philadelphia

External person

Phillip Williams

  • University of Wisconsin-Madison
  • Department of Pediatrics
  • Biochemical Genetics Program

External person

Kathleen A. Kennedy

  • Kaiser Permanente
  • Department of Medical Genetics
  • Department of Perinatal Services

External person

Anupam Chakrapani

  • Metabolic Unit Great Ormond Street Hospital and Institute for Child Health
  • University College London

External person

Tia L. Kauffman

  • Center for Health Research
  • Center for Health Research Kaiser Permanente Northwest
  • Kaiser Permanente

External person

Arnold Strauss

  • University of Cincinnati School of Medicine
  • Vanderbilt Children's Hospital
  • University of Cincinnati
  • Vanderbilt University
  • Perinatal Research Institute
  • Department of Pediatrics
  • Department of Pediatrics

External person

Stephen I. Goodman

  • University of Colorado Health Sciences Center
  • Univ. of Colorado Health Sci. Center
  • Department of Pediatrics
  • School Medicine University of Colorado
  • Children's Mercy Hospitals and Clinics
  • School Medicine University of Colorado Denver
  • University of Colorado Denver
  • University of Colorado at Denver
  • University of Colorado Denver
  • University of Colorado-Denver
  • Colorado School of Medicine
  • Department of Pediatrics
  • VA Medical Center
  • School of Medicine
  • Clinical Genetics and Metabolism
  • University of Colorado Anschutz Medical Campus
  • University of Colorado Department of Pediatrics

External person

Elisa Leão Teles

  • Centro Hospitalar Universitário de São João
  • São João Hospital Center

External person

Orli Rosen

  • BioMarin Pharmaceutical Inc.

External person

Mary Lou Oster-Granite

  • Intellectual and Developmental Disabilities Branch
  • George Washington University
  • National Institutes of Health
  • Intellectual and Developmental Disabilities Branch
  • Department of Pediatrics
  • Department of Pediatrics

External person

Gabriella Allegri

  • University of Zurich
  • Department of Pediatrics
  • Division of Metabolism and Children's Research Centre (CRC)

External person

Ming Ying

  • University of Bergen
  • K.G. Jebsen Centre for Neuropsychiatric Disorders
  • Department of Biomedicine and K.G. Jebsen Centre for Neuropsychiatric Disorders

External person

James Shoemaker

  • Saint Louis University
  • Saint Louis University
  • Department of Biochemistry and Molecular Biology
  • Department of Biochemistry and Molecular Biology

External person

Jacob A. Reiss

  • Kaiser Permanente
  • Genetics Department
  • Oregon Health and Science University

External person

Harvey Chen

  • Mayo Clinic Rochester, MN
  • Department of Surgery

External person

Denise I. Quigley

  • NW
  • Kaiser Permanente
  • NW
  • NW

External person

Roshni Vara

  • Guy's and St Thomas' NHS Foundation Trust
  • Evelina Children’s Hospital
  • King's College London
  • St. Thomas' Hospital
  • Guy’s and St Thomas’ NHS Foundation Trust

External person

Monte Mills

  • University of Wisconsin Medical School
  • University of Pennsylvania
  • Univ. of Wisconsin Medical School
  • University of Wisconsin-Madison
  • Department of Ophthalmology
  • Department of Visual Sciences
  • Division of Pediatric Ophthalmology
  • Department of Ophthalmology
  • Department of Ophthalmology and Visual Sciences
  • Department of Ophthalmology and Visual Science
  • The Children's Hospital of Philadelphia

External person

Gerald Schwank

  • Swiss Federal Institute of Technology Zurich
  • Department of Biology
  • University of Zurich

External person

W. E. Connor

  • Oregan Health Sciences University
  • Oregon Health Sciences University
  • Department of Medicine
  • Oregon Health and Science University
  • Univ. Kansas Medical Center
  • L465 Oregon Health and Science University
  • Oregon Health and Science University
  • Department of Medical Psychology
  • Oregon Health Science University
  • The Oregon Health Sciences University
  • Veterans Administration Hospital
  • Oregon Health Sci. University
  • Oregon Health Sciences Univ.
  • Abbott Laboratories
  • Oregon Hlth. Sci. Center University
  • Oregon Hlth. Sci. University
  • Oregon Hlth. and Sciences University
  • CDRC-F
  • University of Kansas
  • Division of Medical Research
  • VA Medical Center
  • University of Oregon
  • Section of Clinical Nutrition
  • Congenital Heart Research Center
  • Department of Medicine
  • Department of Medicine
  • Division of Endocrinology, Diabetes and Clinical Nutrition
  • Division of Endocrinology, Diabetes and Clinical Nutrition
  • Section of Clinical Nutrition and Lipid Metabolism
  • Div. of Endocrinol. Metab. and Nutr.
  • Section of Clinical Nutrition and Lipid Metabolism
  • Department of Ophthalmology
  • Department of Pédiatrie and Child Development
  • Department of Pediatrics
  • General Clinical Research Center
  • Division of Endocrinology
  • Department of Medical Psychology
  • Medicine
  • Department of Medicine
  • Department of Medicine
  • Division of Endocrinology
  • Department of Medicine
  • Division of Endocrinology, Diabetes and Clinical Nutrition
  • Division of Neuroscience
  • Child Development/Rehab. Center
  • Department of Ophthalmology
  • Department of Pediatrics
  • Department of Psychology
  • Stony Brook University
  • Div. Endocrinol., Diabet. Clin. N.
  • Ross Products Division
  • Division of Endocrinology University

External person

Kirsten Ahring

  • University of Copenhagen
  • Department of Pediatrics

External person

R. Rodney Howell

  • University of Miami Miller School of Medicine
  • University of Miami

External person

Teodoro Bottiglieri

  • Baylor Health Care System
  • Oregon Health and Science University
  • Institute for Metabolic Disease

External person

Caitlin VanLith

  • Department of Surgery
  • Mayo Clinic Rochester, MN
  • Department of Molecular Medicine

External person

P. Himes

  • Oregon Health and Science University
  • Kaiser Permanente
  • Department of Medical Genetics
  • Department of Medical Genetics
  • Department of Medical Genetics
  • Department of Medical Genetics
  • Department of Medical Genetics
  • Department of Medical Genetics
  • Department of Medical Genetics
  • Department of Medical Genetics
  • Department of Medical Genetics
  • Department of Medical Genetics

External person

Robert E. Colwell

  • University of Wisconsin-Madison
  • Department of Pediatrics
  • Biochemical Genetics Program

External person

Dana Kostiner Simpson

  • Kaiser Permanente
  • Department of Medical Genetics
  • Department of Medical Genetics
  • Northwest Permanente
  • Department of Medical Genetics
  • Department of Medical Genetics
  • Department of Medical Genetics
  • Department of Medical Genetics
  • Department of Medical Genetics
  • Department of Medical Genetics
  • Department of Medical Genetics
  • Department of Medical Genetics

External person

Kelly Jones

  • OR Health and Sciences University
  • Oregon Health and Science University
  • Department of Pediatrics
  • Department of Pediatrics
  • University of Portland

External person

Dale A. Schoeller

  • University of Wisconsin-Madison
  • Department of Nutritional Sciences

External person

Manuel Schiff

  • Hôpital Robert Debré AP-HP

External person

James V. Davis

  • Kaiser Permanente

External person

Robert A. Kaiser

  • Midwest Fetal Care Center
  • Department of Surgery
  • Mayo Clinic Rochester, MN
  • Children’s Hospitals and Clinics of Minnesota
  • University of Minnesota Twin Cities
  • Children's Hospitals and Clinics of Minnesota

External person

Mary Stuy

  • Indiana University-Purdue University Indianapolis
  • Department of Medical and Molecular Genetics
  • Department of Medical and Molecular Genetics
  • IU School of Medicine
  • Indiana University Bloomington

External person

Stephen J. Zoog

  • BioMarin Pharmaceutical Inc.

External person

Katrina A.B. Goddard

  • Kaiser Permanente
  • Division of Neurology
  • University of Washington
  • Department of Biostatistics
  • University of Washington
  • Case Western Reserve University

External person

Becky Schweighardt

  • Monogram Biosciences
  • BioMarin Pharmaceutical Inc.
  • Monogram Biosciences

External person

Andrea L. Gropman

  • National Institutes of Health
  • UDP
  • Children's National Medical Center
  • George Washington University
  • Children’s National Hospital

External person

Amarilis Sanchez-Valle

  • Division of Genetics and Metabolism
  • University of South Florida
  • University of Lisbon
  • University of Lisbon

External person

Paul M. Coates

  • National Institutes of Health

External person

Marian J. Gilmore

  • Kaiser Permanente
  • Department of Medical Genetics
  • Department of Medical Genetics
  • Department of Medical Genetics
  • Department of Medical Genetics

External person

Lauren Krivitzky

  • Children's National Medical Center
  • Children's Hospital of Philadelphia
  • University of Pennsylvania
  • The Children's Hospital of Philadelphia

External person

Rani H. Singh

  • Emory University
  • University of Pittsburgh

External person

Alexandre Rebuffat

  • University of Zurich
  • Division of Clinical Chemistry and Biochemistry
  • Department of Pediatrics
  • Department of Pediatrics

External person

Alberto Burlina

  • University Hospital
  • University Hospital of Padova
  • University Children's Hospital
  • Division of Metabolic Diseases
  • Metabolic Unit
  • Azienda Ospedaliera di Padova
  • Metabolic Unit
  • U.O.C. Malattie Metaboliche Ereditarie
  • Department of Neuroscience
  • University of Padua

External person

David E. Sesser

  • Oregon State Public Health Laboratory
  • Quest Diagnostics, Inc.
  • Northwest Regional Newborn Screening Program
  • Quest Diagnostics Incorporated
  • Oregon Health and Science University
  • Oregon State Public Health Laboratory
  • Northwest Regional Newborn Screening Program
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Pediatrics
  • State of Oregon Public Health Laboratory
  • Quest Diagnostics Incorporated

External person

Can Ficicioglu

  • University of Pennsylvania
  • Department of Pediatrics
  • The Children's Hospital of Philadelphia

External person

Amy Kritzer

  • Harvard University
  • Department of Pediatrics
  • Boston Children's Hospital

External person

Frances L. Lynch

  • Kaiser Permanente Northwest
  • Kaiser Permanente Northwest/Hawaii
  • Kaiser Permanente
  • Kaiser Permanente
  • Oregon Health and Science University
  • Department of Public Health and Preventive Medicine

External person

Andrea Schlegel

  • University Hospital Zurich
  • University of Zurich
  • Department of Surgery

External person

Stephen C. Groft

  • National Institutes of Health
  • Office of Rare Diseases Research

External person

Alan F. Rope

  • University of Utah
  • Kaiser Permanente
  • Department of Medical Genetics
  • Northwest Permanente
  • Division of Medical Genetics
  • Department of Medical Genetics
  • Department of Medical Genetics
  • Department of Medical Genetics

External person

Amaya Bélanger-Quintana

  • Ramon y Cajal Hospital
  • Hospital Ramon y Cajal
  • Division of Metabolic Diseases

External person

Garen D. Gaston

  • Department of Medical Genetics, Oregon Health and Science University
  • Oregon Health and Science University
  • Oregon Health and Science University
  • Department of Surgery

External person

Ronald Marler

  • Mayo Clinic Scottsdale, AZ
  • Department of Comparative Medicine

External person

Yin Hsiu Chien

  • National Taiwan University

External person

P. de Lonlay

  • Université Paris 5
  • Reference Center for Inherited Metabolic Diseases
  • Service de Maladies Métaboliques
  • Service de Maladies Métaboliques
  • Assistance publique – Hôpitaux de Paris
  • Université Paris Cité

External person

Joe Mauney

  • Chiltern

External person

Júlio César Rocha

  • NOVA University Lisbon
  • University of Melbourne
  • Royal Melbourne Hospital
  • University of Lisbon

External person

Aurora Martinez

  • University of Bergen

External person

Johannes Häberle

  • University of Zurich
  • Division of Metabolism and Children's Research Centre (CRC)
  • Division of Metabolism and Children's Research Centre
  • Swiss Federal Institute of Technology Zurich

External person

Willem G. van Ginkel

  • University of Groningen
  • Oregon Health and Science University

External person

Heather Clark

  • Oregon Health and Science University

External person

Michele A. Lloyd-Puryear

  • National Institutes of Health, Bethesda
  • Hlth. Rsrc./Services Administration
  • United States Department of Health and Human Services
  • Office of Dietary Supplements
  • National Institutes of Health
  • Hlth. Rsrc./Services Administration

External person

Kelly Lau

  • BioMarin Pharmaceutical Inc.

External person

Annie M. Behrend

  • Oregon Health and Science University
  • Graduate Programs in Human Nutrition
  • Department of Molecular and Medical Genetics

External person

Jolanta Sykut-Cegielska

  • National Consultant in Paediatric Metabolic Medicine
  • Instytut Matki I Dziecka
  • Institute of Mother and Child

External person

P. Lyne

  • University of Wisconsin-Madison
  • Biochemical Genetics Program

External person

Stephanie Sacharow

  • Division of Genetics and Genomics
  • Harvard University
  • NOVA University Lisbon
  • Florey Institute of Neuroscience and Mental Health
  • Boston Children's Hospital

External person

Greta N. Wilkening

  • University of Colorado Anschutz Medical Campus
  • University of Colorado Department of Pediatrics
  • The Children's Hospital, Aurora

External person

Destine Krenik

  • Oregon Health and Science University

External person

Mark Neff

  • Oregon Health and Science University
  • Department of Pediatrics
  • University of Portland

External person

Carmit McMullen

  • Kaiser Permanente
  • Kaiser Permanente Ctr for Hlth. Res.
  • Kaiser Permanente Northwest
  • Oregon Health and Science University

External person

Cheryl Garganta

  • Tufts-New England Medical Center
  • Tufts University
  • Department of Pediatrics
  • Tufts Medical Center

External person

Cheryl Hermerath

  • Northwest Regional Newborn Screening Program
  • Oregon State Public Health Laboratory

External person

Elaina Jurecki

  • BioMarin Pharmaceutical Inc.

External person

Roberta A. Pagon

  • Children's Hospital
  • Children's Hospital and Regional Medical Center Seattle
  • University of Washington
  • University of British Columbia
  • Children's Hosp. and Med. Ctr.
  • Royal United Hospital
  • Children's Hosp. and Medical Center
  • University of British Columbia
  • Medical Center
  • Division of Medical Genetics
  • University of Oregon Health Sciences Center
  • Department of Pediatrics
  • Department of Ophthalmology
  • Department of Medical Genetics
  • Department of Crippled Children's Division
  • Bath Unit for Paediatrics Res.
  • Royal United Hospitals Bath NHS Foundation Trust
  • Depts. of Pediat. and Ophthalmology
  • Department of Ophthalmology
  • Crippled Children's Division
  • Department of Medical Genetics
  • Oregon Health and Science University
  • Johns Hopkins University
  • Division of Pulmonary and Sleep Medicine

External person

Heather Bausell

  • Division of Clinical Nutrition & Genetics
  • Children's Memorial Hospital

External person

Faysal Elgilani

  • Mayo Clinic Rochester, MN
  • William J. von Liebig Center for Transplantation and Clinical Regeneration
  • Department of Surgery

External person

Hiu Man Viecelli

  • University of Zurich
  • University of Zurich
  • Department of Pediatrics

External person

Kathleen L. Huntington

  • Oregon Health and Science University
  • Department of Medicine
  • Child Development/Rehab. Center

External person

Allan M. Lund

  • University of Copenhagen
  • Department of Clinical Genetics

External person

R. Stephen Amato

  • University of Kentucky
  • Medical Genetics and Metabolism

External person

Clara T. Nicolas

  • Department of Surgery
  • Mayo Clinic Rochester, MN
  • University of Barcelona

External person

Maria L. Couce

  • Hospital Clinico Universitario de Santiago de Compostela
  • University of Santiago de Compostela
  • Santiago University Clinical Hospital

External person

Robert J. Holt

  • Horizon Therapeutics, Inc
  • Horizon Therapeutics plc
  • University of Illinois at Chicago
  • Horizon Therapeutics plc

External person

Daelyn Y. Richards

  • Oregon Health and Science University
  • Department of Molecular and Medical Genetics

External person

Georgirene D. Vladutiu

  • State University of New York at Buffalo
  • SUNY Buffalo
  • Departments of Pediatrics, Neurology, and Pathology

External person

Michael Watson

  • American College of Medical Genetics
  • Genetics and IVF Institute
  • Washington University St. Louis
  • HVP Planning Meeting
  • Department of Pediatrics
  • Laboratory Quality Assurance Committee
  • ACMG Laboratory Quality Assurance Committee
  • American College of Medical Genetics
  • Self-employed

External person

Laura M. Amendola

  • University of Washington
  • Department of Medicine
  • Clinical Sequencing Exploratory Research Coordinating Center
  • Department of Medicine
  • Division of Medical Genetics
  • Department of Medicine (Medical Genetics)
  • Clinical Sequencing Exploratory Research Coordinating Center
  • Illumina, Inc.

External person

Joshua Henshaw

  • BioMarin Pharmaceutical Inc.

External person

Jiri Zeman

  • Charles University

External person

Guy Hellen Guercin

  • McGill University

External person

Sydney Weber

  • Oregon Health and Science University
  • Department of Behavioral Neuroscience
  • Department of Behavioral Neuroscience
  • Department of Psychological Sciences
  • University of Portland

External person

Lisa Feuchtbaum

  • Genetic Disease Screening Program, California Department of Public Health
  • California Department of Health Services

External person

Kimberlee Matalon

  • University of Houston

External person

Loren D.M. Pena

  • University of Cincinnati
  • National Institutes of Health
  • Cincinnati Children's Hospital Medical Center
  • Duke University
  • University of Pittsburgh

External person

Thalia Wood

  • Agence de Medecine Preventive
  • Alaska Division of Public Health
  • Association of Public Health Labs
  • Agence de Médecine Préventive
  • Association of Public Health Laboratories
  • Alaska Division of Public Health

External person

Celeste Decker

  • BioMarin Pharmaceutical Inc.

External person

Hans W. Sollinger

  • University of Wisconsin-Madison
  • University of California at San Francisco
  • Section of Gastroenterology
  • Department of Surgery
  • Transplant Service M-884
  • Department of Surgery
  • Department of Medicine

External person

Autumn L. Fletcher

  • Oregon Health and Science University
  • Oregon Health and Science University
  • Department of Molecular and Medical Genetics

External person

Christoph Baerwald

  • Leipzig University

External person

Peter J. McGuire

  • George Washington University
  • Department of Pediatrics
  • Department of Pediatrics

External person

William H. Perloff

  • University of Wisconsin-Madison

External person

Hannah L. Scanga

  • University of Pittsburgh

External person

Renee Perdok

  • Horizon Therapeutics, Inc
  • Horizon Therapeutics plc

External person

Ryan Boyer

  • BioMarin Pharmaceutical Inc.

External person

Carla E.M. Hollak

  • University of Amsterdam
  • Academic Medical Center Amsterdam

External person

Wong Derek

  • George Washington University
  • Department of Pediatrics
  • Department of Pediatrics

External person

Jyh Chang Jean

  • Boston University
  • Pulmonary Center

External person

Gisela Wilcox

  • University of Manchester

External person

Rebecca Tippner-Hedges

  • Oregon Health and Science University
  • Center for Embryonic Cell and Gene Therapy
  • Division of Reproductive and Developmental Sciences
  • Knight Cardiovascular Institute
  • Knight Cardiovascular Institute

External person

Alec Peters

  • Oregon Health and Science University
  • Department of Biomedical Engineering
  • Department of Biomedical Engineering
  • Knight Cancer Institute
  • Oregon Health and Science University

External person

Justin M. Young

  • Facial Plastic and Reconstructive Surgery

External person

Angela E. Lin

  • Harvard University
  • MassGeneral Hospital for Children
  • Genetics UnitMassGeneral Hospital for ChildrenBoston
  • Genetics Unit
  • Department of Medical Genetics
  • Center for Human Genetic Research
  • Genetics and Teratology Unit
  • Department of Pediatrics
  • Commonwealth of Massachusetts
  • MassGeneral Hospital for Children
  • Massachusetts General Hospital

External person

Harikleia Ioannou

  • General Hospital of Thessaloniki

External person

Kyriakie Sarafoglou

  • University of Minnesota Twin Cities
  • Department of Pediatrics

External person

Catie Schlechter

  • Oregon Health and Science University
  • Oregon Health and Science University
  • Casey Eye Institute
  • Casey Eye Institute
  • Casey Eye Institute

External person

Rachel C. Patel

  • Oregon Health and Science University
  • Oregon Health and Science University
  • Casey Eye Institute
  • Casey Eye Institute
  • Casey Eye Institute
  • University of Utah
  • University of Massachusetts Medical School
  • Casey Eye Institute

External person

Scot C. Leary

  • McGill University
  • Department of Human Genetics
  • University of Saskatchewan

External person

Samar H. Ibrahim

  • Mayo Clinic Rochester, MN
  • Division of Pediatric

External person

Henrietta D. Hyatt-Knorr

  • Office of Rare Diseases Research
  • National Institutes of Health

External person

Ehud Gazit

  • Tel Aviv University

External person

Amy Newell

  • Oregon Health and Science University
  • Department of Molecular and Medical Genetics
  • Department of Molecular and Medical Genetics
  • Clinical Cytogenetics Laboratory
  • Department of Biochemistry and Molecular Biology
  • Department of Molecular Medical Genetics
  • Department of Medicine

External person

Timothy W. Yu

  • Harvard University
  • Boston Children's Hospital

External person

Phyllis B. Acosta

  • Emory University

External person

Alejandro Dorenbaum

  • BioMarin Pharmaceutical Inc.

External person

Paige Kaplan

  • Children's Hospital of Philadelphia
  • University of Pennsylvania
  • University of Nebraska Medical Center
  • Department of Pediatrics
  • Department of Pediatrics
  • The Children's Hospital of Philadelphia

External person

Andrea M. Haqq

  • Duke University Medical Center
  • Div. of Endocrinology and Diabetes
  • CDW-5
  • University of Alberta
  • Duke University
  • Oregon Health and Science University
  • Department of Pediatrics
  • Sarah W. Stedman Nutrition and Metabolism Center
  • Department of Surgery
  • Division of Pediatric Endocrinology and Diabetes
  • Department of Pediatrics
  • Department of Pediatrics

External person

Kaleigh Whitehall

  • BioMarin Pharmaceutical Inc.

External person

Christine S. Chang

  • Agency for Healthcare Research and Quality
  • Center for Outcomes and Evidence

External person

Svenja Scharre

  • Heidelberg University 

External person

John H. Ferguson

  • National Institutes of Health
  • Office of Rare Diseases Research

External person

Anne Skalicky

  • Pharmaceutical Product Development

External person

Thomas Vescio

  • Horizon Therapeutics, Inc
  • Horizon Therapeutics plc

External person

Saba Sile

  • BioMarin Pharmaceutical Inc.

External person

D. Ney

  • University of Wisconsin-Madison
  • Univ. of Wisconsin-Madison
  • Nutritional Sciences
  • University of Wisconsin-Madison
  • Univ. of Wisconsin
  • Department of Nutritional Sciences
  • Department of Nutritional Sciences
  • Department of Nutritional Sciences
  • Department of Nutritional Sciences
  • Univ. of Wisconsin-Madison
  • Department of Nutritional Sciences

External person

Daniel F. Carlson

  • Recombinetics Inc

External person

Krista Redlinger-Grosse

  • University of Minnesota Twin Cities
  • Department of Pediatrics

External person

Arthur Yu

  • Genomics Section
  • Hawai'i Department of Health

External person

Heather Bujnicki

  • State University of New York at Buffalo
  • SUNY Buffalo
  • Department of Pediatrics

External person

Brendan Lanpher

  • Vanderbilt University Medical Center
  • VA Medical Center
  • Vanderbilt University
  • Mayo Clinic Rochester, MN

External person

François Maillot

  • Université de Tours

External person

Sarah J. Holden

  • Oregon Health and Science University

External person

Tiffany DeVine

  • Oregon Health and Science University
  • Oregon Health and Science University
  • Department of Molecular and Medical Genetics
  • Department of Molecular and Medical Genetics

External person

Rebekah Guthman

  • Department of Surgery
  • Mayo Clinic Rochester, MN
  • Department of Molecular Medicine

External person

Abby G. Ershow

  • National Institutes of Health
  • Blood Institute

External person

Brittany L. Freeman

  • Mayo Clinic Rochester, MN
  • Division of Pediatric

External person

Iris L. Rodenburg

  • University of Groningen

External person

Ines Müller

  • University Children's Hospital Heidelberg
  • Department of General Pediatrics
  • Heidelberg University 

External person

Sarah Rose

  • Oregon Health and Science University
  • PRA Health Sciences
  • BioMarin Pharmaceutical Inc.
  • Guy's and St Thomas' NHS Foundation Trust

External person

Lital Adler

  • Weizmann Institute of Science

External person

Gregory M. Rice

  • University of Wisconsin-Madison

External person

Kaatje Meeuws

  • Oregon Health and Science University
  • Oregon Health and Science University
  • General Clinical Research Center
  • Section of Clinical Nutrition
  • Department of Medicine
  • Center for the Study of Weight Regulation
  • Department of Medicine
  • Division of Endocrinology, Diabetes and Clinical Nutrition

External person

Barbara K. Burton

  • Children's Memorial Hospital

External person

Suyash Prasad

  • BioMarin Pharmaceutical Inc.
  • Genzyme Therapeutics Ltd

External person

Mitzie L. Grant

  • St. Christopher's Hospital for Children Philadelphia
  • St. Christopher's Hospital for Children
  • Drexel University

External person

Yue Yu

  • Mayo Clinic Rochester, MN

External person

Naomi Kondo

  • Gifu University
  • Department of Pediatrics

External person

Julia M. Jordan

  • Oregon Health and Science University
  • Oregon Health and Science University
  • Section of Clinical Nutrition
  • Medicine

External person

Zhiyv Niu

  • Baylor College of Medicine
  • Baylor Miraca Genetics Laboratories
  • Department of Molecular and Human Genetics
  • Whole Genome Laboratory
  • University of Pennsylvania
  • Mayo Clinic Rochester, MN

External person

Peter W. Stacpoole

  • University of Florida
  • Div. of Endocrinology and Metabolism
  • Dept. of Biochem./Molecular Biology
  • Department of Biochemistry and Molecular Biology
  • Division of Hematology and Oncology

External person

Ece Kucuksayrac

  • BioMarin Pharmaceutical Inc.

External person

J. P. Osborne

  • Royal United Hospital
  • Bath Unit for Paediatrics Res.
  • Royal United Hospitals Bath NHS Foundation Trust

External person

Gert Fricker

  • University of Heidelberg
  • Heidelberg University 
  • Abteilung Pharmazeutische Technologie und Pharmakologie Im Neuenheimer
  • Institute of Pharmacy and Molecular Biotechnology

External person

J. P. Atkinson

  • Washington University St. Louis
  • Washington University School of Medicine
  • University of North Carolina
  • Campus Box 8045
  • University of North Carolina at Chapel Hill
  • Department of Internal Medicine
  • Department of Cell and Molecular Physiology
  • Division of Oncology

External person

Adrijan Sarajlija

  • University of Belgrade

External person

Sydney Weber Boutros

  • Department of Behavioral Neuroscience
  • Oregon Health and Science University
  • Behavioral Neuroscience
  • Boise State University

External person

Steven F. Dobrowolski

  • University of Pittsburgh

External person

Mahim Jain

  • Baylor College of Medicine
  • National Institutes of Health, Bethesda
  • Model Organism Screening Center
  • Kennedy Krieger Institute
  • Department of Molecular and Human Genetics
  • Department of Bone and Osteogenesis Imperfecta
  • Shriners Hospitals for Children
  • University of Oxford
  • National Institutes of Health

External person

Xinjian Wang

  • Cincinnati Children's Hospital Medical Center
  • Division of Human Genetics

External person

Areeg H. El-Gharbawy

  • Cedars-Sinai Medical Center
  • University of Pittsburgh
  • Medical Genetics Institute
  • Faculty of Medicine
  • Cairo University
  • Department of Pediatrics
  • Division of Medical Genetics

External person

Andrew A. Morris

  • Manchester University NHS Foundation Trust
  • University of Manchester
  • Imperial College Healthcare NHS Trust

External person

Christineh N. Sarkissian

  • McGill University
  • Department of Biology

External person

James P. DeLany

  • University of Pittsburgh
  • Translational Research Institute

External person

Lee Jun C Wong

  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • Department of Human and Molecular Genetics
  • Department of Molecular and Human Genetics
  • Biochemical Genetics Laboratory
  • Institute for Molecular Genetics

External person

Elizabeth Wagner

  • University of Wisconsin-Madison
  • Department of Pediatrics

External person

Thomas D. Franklin

  • National PKU Alliance

External person

Joseph S. Chan

  • Oregon Health and Science University
  • Department of Molecular and Medical Genetics

External person

S. R. Davidson

  • Biochemical Genetics Program

External person

John A. Phillips

  • Vanderbilt University

External person

Marinee K. Chuah

  • University of Leuven
  • KU Leuven
  • Department of Gene Therapy and Regenerative Medicine
  • Free Universities of Brussels
  • Department of Cardiovascular Sciences

External person

Douglas R. Kern

  • Recombinetics Inc

External person

David T. Madden

  • BioMarin Pharmaceutical Inc.

External person

Richard E. Rieselbach

  • University of Wisconsin-Madison
  • Section of Gastroenterology
  • Department of Medicine

External person

Julien Baruteau

  • University College London
  • UCL Institute of Child Health and Great Ormond Street Hospital for Children NHS Foundation Trust

External person

Anne Mahringer

  • University of Heidelberg
  • Heidelberg University 
  • Institute of Pharmacy and Molecular Biotechnology

External person

M. Lasarev

  • Lawrence Berkeley National Laboratory
  • Center for Research on Occupational and Environmental Toxicology
  • Portland VA Center for the Study of Chronic
  • Oregon Health and Science University
  • Oregon Hlth. and Sciences University
  • Oregon Health Sciences University
  • Oregon Health and Science University
  • University of Iowa
  • Oregon Institute of Occupational Health Sciences
  • Center for Research on Occupational and Environmental Toxicology
  • VA Medical Center
  • Columbia Center for the Study of Chronic, Comorbid Mental and Physical Disorders
  • Biostatistics and Design Program
  • Comorbid Physical and Mental Disorders
  • Oregon Hearing Research Center
  • Center for Research on Occupational and Environmental Toxicology and Department of Neurology
  • Departments of Public Health and Preventive Medicine
  • Methamphetamine Abuse Research Center

External person

Christel Gross

  • Department of Pediatrics
  • University of Florida

External person

Fred Lorey

  • Genetic Disease Screening Program, California Department of Public Health
  • California Department of Health Services

External person

Simon S. Gao

  • Oregon Health and Science University
  • Oregon Health and Science University
  • Casey Eye Institute
  • Oregon Health and Science University
  • Casey Eye Institute
  • Casey Eye Institute
  • Department of Surgery
  • Department of Ophthalmology
  • Genentech Incorporated
  • Casey Eye Institute
  • Department of Ophthalmology
  • Casey Eye Institute

External person

Gillian Shepherd

  • Cornell University

External person

T. Burlingame

  • Oregon Health Sciences University
  • University of Leon
  • Oregon Health and Science University
  • Department of Molecular and Medical Genetics
  • Department of Medical Genetics
  • Child Development/Rehab. Center

External person

Michael M. Tsoory

  • Weizmann Institute of Science
  • Behavioral and Physiological Phenotyping Unit

External person

P. Mantry

  • Liver Institute at Methodist Dallas Medical Center
  • Methodist Dallas Medical Center
  • Liver Institute at Methodist Dallas
  • Methodist Health System, Texas

External person

Charles Venditti

  • National Institutes of Health
  • National Institutes of Health

External person

Rashmi Gopal-Srivastava

  • National Institutes of Health
  • Office of Rare Diseases Research

External person

Johan L K Van Hove

  • University of Colorado Denver
  • KU Leuven
  • Clinical Genetics and Metabolism
  • Department of Pediatrics
  • Department of Pediatrics
  • Duke University
  • Department of Pediatrics
  • Department of Pediatrics
  • University of Colorado Anschutz Medical Campus
  • The Children's Hospital, Aurora
  • The Children's Hospital, Aurora
  • University of Colorado Department of Pediatrics

External person

Stephanie Deward

  • University of Pittsburgh
  • GeneDx
  • Division of Medical Genetics
  • GeneDX Inc
  • OPKO Health, Inc.

External person

Eugenio Montini

  • Oregon Health/Sciences University
  • San Raffaele-Telethon Institute for Gene Therapy
  • Oregon Health Science University
  • Inst. per la cura/la Ric. del Cancro
  • Ist. Per Ric. e la Cura del Cancro
  • Oregon Health Sciences University
  • Fondazione Telethon
  • IRCCS Fondazione del Piemonte per l'Oncologia - Candiolo (TO)
  • Oregon Health and Science University
  • Department of Molecular and Medical Genetics
  • Department of Molecular and Medicinal Genetics
  • Ist. Per Ric. e la Cura del Cancro
  • San Raffaele Institute

External person

Sonja A. Rasmussen

  • Centers for Disease Control and Prevention
  • University of Florida
  • Division of Genetics

External person

Qiang Yu

  • Boston University
  • Pulmonary Center

External person

Michaela Jaksch

  • Inst. Clin. Chem. Molec. Diagnostics
  • Institute of Clinical Chemistry, Molecular Diagnostics and Mitochondrial Genetics
  • Metabolic Dis. Ctr. Munich-Schwabing

External person

Amy C. Cunningham

  • Hayward Genetics Center
  • Tulane University
  • Hayward Genetics Center

External person

Stephan C.J. Huijbregts

  • Leiden University

External person

Alessio Cantore

  • Fondazione Telethon
  • Vita-Salute San Raffaele University
  • San Raffaele Institute

External person

Tiina K. Urv

  • Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health
  • National Institutes of Health
  • National Institutes of Health, Bethesda
  • Intellectual and Developmental Disabilities Branch

External person

Panagiota Tsikrika

  • University of Zurich
  • Division of Metabolism and Children's Research Centre (CRC)

External person

Álvaro Hermida

  • Santiago University Clinical Hospital
  • University of Santiago de Compostela

External person

Gillian E. Clague

  • BioMarin Pharmaceutical Inc.

External person

John Gohagan

  • National Institutes of Health
  • Office of Disease Prevention

External person

Jim Pollaro

  • Oregon Health and Science University
  • Advanced Imaging Research Center
  • Department of Medicine

External person

Catherine W. Kaiser

  • Mayo Clinic Rochester, MN

External person

Shideh Mofidi

  • Maria Fareri Children's Hospital of Westchester Medical Center
  • Westchester Medical Center
  • New York Medical College

External person

Laura Konczal

  • Case Western Reserve University

External person

Gregory Clarke

  • Oregon Health and Science University
  • Department of Molecular and Medical Genetics

External person

Yasuhiro Ikeda

  • Mayo Clinic Rochester, MN
  • Department of Molecular Medicine

External person

Sven W. Sauer

  • University Children's Hospital
  • University Children's Hospital of Heidelberg
  • University Children's Hospital Heidelberg
  • Univ. Children's Hospital Heidelberg
  • Department of General Paediatrics
  • Department of General Pediatrics
  • Heidelberg University 
  • Department of General Pediatrics
  • Department of General Pediatrics

External person

Angeles Ruiz Gomez

  • Hospital Son Dureta

External person

Jerry R. Mendell

  • Department of Pediatrics, Ohio State University
  • Ohio State University
  • Center for Gene Therapy
  • Nationwide Children’s Hospital

External person

Melissa Sailer

  • Oregon Health and Science University

External person

Lynne Yao

  • U.S. Food and Drug Administration
  • United States Food and Drug Administration

External person

Zeji Du

  • Mayo Clinic Rochester, MN
  • William J. von Liebig Transplant Center
  • Department of Surgery

External person

Nikolas Boy

  • Heidelberg University 
  • Department of General Paediatrics
  • Centre for Pediatric and Adolescent Medicine

External person

Maja Djordjevic

  • University of Belgrade

External person

James Ver Hoeve

  • University of Wisconsin Medical School
  • University of Wisconsin-Madison
  • OSOD
  • OSOD
  • Department of Ophthalmology
  • Department of Visual Sciences
  • OSOD
  • OSOD
  • OSOD
  • OSOD
  • OSOD

External person

Patrice K. Held

  • Oregon Health and Science University
  • University of Wisconsin-Madison

External person

Anne Vonada

  • Oregon Health and Science University

External person

Don P. Wolf

  • Center for Embryonic Cell and Gene Therapy
  • Oregon Health and Science University
  • Division of Reproductive and Developmental Sciences
  • Dept. Obstet. - Gynecol. P.
  • Dept. of Obstetrics/Gynecology
  • Institut national de la santé et de la recherche médicale
  • Division of Reproductive Sciences
  • Department of Obstetrics and Gynecology
  • Dept. of Physiology and Pharmacology
  • Dept. of Physiology
  • Division of Reproductive Endocrinology and Infertility
  • Dept. of Physiology and Pharmacology, L334
  • Department of Obstetrics and Gynecology
  • Oregon Regional Primate Res. Center
  • Division of Gynecologic Oncology
  • University of Texas Health Science Center at San Antonio
  • Department of Physiology and Pharmacology
  • Dept. of Physiology
  • Department of Medicine
  • Oregon Stem Cell Center
  • Div. of Repro. Biology and Behavior
  • Department of Obstetrics
  • Health Sciences University
  • Department of Surgery
  • Department of Obstetrics
  • Departments of Obstetrics/Gynecology and Physiology/Pharmacology
  • CNRS, UMR 5308

External person

Georgianne Arnold

  • University of Pittsburgh

External person

Kathleen Delaney

  • BioMarin Pharmaceutical Inc.

External person

Amy Gaviglio

  • Minnesota Department of Health
  • Connectics Consulting

External person

Cristy A. Ku

  • West Virginia University
  • Oregon Health and Science University
  • Casey Eye Institute
  • Center for Neuroscience
  • Casey Eye Institute
  • Casey Eye Institute
  • Department of Ophthalmology
  • Casey Eye Institute
  • University of California at Davis

External person

Tevie Mehlman

  • Weizmann Institute of Science

External person

Raya Eilam

  • Weizmann Institute of Science

External person

Li Ding

  • Vanderbilt Children's Hospital
  • Vanderbilt University
  • Department of Pediatrics
  • Department of Pediatrics

External person

C. G. Green

  • University of Wisconsin-Madison
  • Division of Pediatric Critical Care Medicine

External person

Jeffrey Krischer

  • University of South Florida

External person

Susan M. Thompson

  • The Children's Hospital at Westmead
  • University of Sydney
  • The Children's Hospital at Westmead

External person

Junwei Gao

  • OR Health and Science University
  • Oregon Health and Science University
  • Departments of Medicine and Cell and Developmental Biology
  • Department of Cell and Developmental Biology
  • Department of Cell and Developmental Biology
  • Department of Cell and Developmental Biology
  • Department of Cell and Developmental Biology

External person

Ilona Ginevic

  • Icahn School of Medicine at Mount Sinai

External person

Jacqueline K. Ng

  • Oregon Health and Science University
  • Oregon Health and Science University
  • Department of Ophthalmology
  • Department of Ophthalmology
  • Casey Eye Institute

External person

R. Banerjee

  • University of Nebraska
  • Department of Biochemistry
  • University of Nebraska-Lincoln

External person

J. B. Arnoux

  • Université Paris 5
  • Reference Center for Inherited Metabolic Diseases
  • Assistance PubliqueHôpitaux de Paris
  • Université Paris Cité

External person

Lata S. Nerurkar

  • Office of Rare Diseases Research
  • National Institutes of Health

External person

Linda de Meirleir

  • Vrije Universiteit Brussel

External person

Jeffrey P. Brosco

  • University of Miami Mailman Center for Child Development
  • University of Miami

External person

Sarah Rose

  • Oregon Health and Science University
  • PRA Health Sciences

External person

Michael Martinez

  • Oregon Health and Science University

External person

Stephanie Birch

  • Alaska Division of Public Health
  • Alaska Division of Public Health

External person

N. Dorrani

  • University of California at Los Angeles
  • University of California
  • UCLA Geffen School of Medicine
  • National Institutes of Health, Bethesda
  • Department of Human Genetics
  • Department of Human Genetics
  • National Institutes of Health

External person

Mark Walterfang

  • University of South Florida
  • University of Melbourne
  • University Medical Center Hamburg-Eppendorf
  • University of Hamburg

External person

V. Abadie

  • Enfants Malades Pediatrie Generale
  • Université Paris 5
  • Université Paris Cité

External person

Mina Ryten

  • University College London
  • Queen Mary University of London
  • Guy's and St Thomas' NHS Foundation Trust
  • UCL Institute of Child Health and Great Ormond Street Hospital for Children NHS Foundation Trust

External person

Edward D. Esplin

  • Stanford University
  • Invitae Corporation

External person

Ann Catrin Druck

  • Heidelberg University 

External person

Sandesh Sreenath-Nagamani

  • Baylor College of Medicine

External person

Markey C. McNutt

  • University of Texas Southwestern Medical Center

External person

Erland Arning

  • Baylor Health Care System
  • Oregon Health and Science University

External person

Belén Pérez

  • Centro de Biología Molecular Severo Ochoa, UAM-CSIC, Universidad Autónoma de Madrid
  • Universidad Autónoma de Madrid
  • Ctr. of Molec. Biology Evero Ochoa

External person

Debra Freedenberg

  • Vanderbilt University
  • Genetics Institute of Austin
  • Texas Department of State Health Services
  • Department of Pediatrics
  • Division of Medical Genetics
  • Department of Pediatrics
  • Texas Department of State Health Services

External person

Carl R. Pelz

  • Oregon Health and Sciences University
  • Department of Pediatrics, Oregon Health and Science University
  • Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science Center
  • Oregon Health and Science University
  • Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science Center
  • University of Dundee
  • Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science Center
  • Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science Center
  • Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science Center
  • Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science Center
  • Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science Center
  • Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science Center
  • Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science Center
  • Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science Center
  • Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science Center
  • Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science Center
  • Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science Center
  • Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science Center
  • Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science Center
  • Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science Center
  • Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science Center
  • Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science Center
  • Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science Center
  • Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science Center
  • Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science Center
  • Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science Center
  • Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science Center
  • Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science Center
  • Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science Center
  • Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science Center
  • Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science Center
  • Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science Center
  • Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science Center
  • Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science Center
  • Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science Center
  • Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science Center
  • Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science Center
  • Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science Center
  • Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science Center
  • Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science Center
  • Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science Center
  • Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science Center
  • Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science Center
  • Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science Center
  • Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science Center
  • Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science Center
  • Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science Center
  • Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science Center
  • Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science Center
  • Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science Center
  • Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science Center
  • Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science Center
  • Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science Center
  • Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science Center
  • Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science Center
  • Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science Center
  • Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science Center
  • Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science Center
  • Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science Center
  • Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science Center
  • Department of Pediatrics
  • Brenden-Colson Center for Pancreatic Care
  • Computational Biology
  • Department of Molecular and Medical Genetics
  • The Oregon Stem Cell Center
  • Division of Bioinformatics and Computational Biology
  • Department of Pediatrics
  • Biomedical Research
  • Centre for Gene Regulation and Expression
  • Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science Center
  • Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science Center
  • Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science Center
  • Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science Center
  • Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science Center
  • Oregon Stem Cell Center

External person

Adrienne L. Watson

  • Recombinetics Inc

External person

Drew G. Levy

  • BioMarin Pharmaceutical Inc.

External person

Catherine L. Gallagher

  • University of Wisconsin-Madison
  • Department of Neurology

External person

Timothy R. DeGrado

  • Mayo Clinic Rochester, MN
  • Department of Radiology

External person

André L. Santos Pessoa

  • Universidade Estadual do Ceará

External person

Friederike Epp

  • Heidelberg University 

External person

O. A. Bodamer

  • Medizinische Universität Wien
  • University of Miami Miller School of Medicine
  • Medical University of Vienna
  • University of Miami
  • Harvard University
  • Division of Genetics and Genomics
  • Boston Children's Hospital

External person

Chak Sum Ho

  • Histocompatibility Laboratory
  • Gift of Hope Organ & Tissue Donor Network

External person

Nida Wongchaisuwat

  • Oregon Health and Science University
  • Mahidol University

External person

J. Bartley

  • Long Beach Memorial Medical Center

External person

Laura Gandolfo

  • University of South Florida

External person

Erin L. MacLeod

  • University of Wisconsin-Madison
  • Children's National Medical Center

External person

Keiko Murase

  • Gifu University
  • Department of Pediatrics

External person

Melissa Wasserstein

  • Mount Sinai School of Medicine
  • Icahn School of Medicine at Mount Sinai
  • Yeshiva University
  • The University Hospital for Albert Einstein College of Medicine

External person

William Packwood

  • Oregon Health and Science University
  • Knight Cardiovascular Institute
  • Oregon Health and Science University
  • Cardiovascular Division
  • Knight Cardiovascular Institute
  • Knight Cardiovascular Institute
  • Portland VA Medical Center

External person

James Gibson

  • University of Texas Health Science Center at San Antonio
  • Clinical Genetics
  • Department of Pediatrics

External person

Hye Seung Lee

  • University of South Florida
  • Data Management and Coordinating Center
  • Pediatrics Epidemiology Center

External person

Kenneth J. Mack

  • University of Wisconsin-Madison
  • Department of Neurology

External person

Rachel Richesson

  • University of Michigan, Ann Arbor

External person

Massimo Pandolfo

  • Oregon Health and Science University
  • Department of Molecular and Medical Genetics
  • University of Montreal
  • Centre Hospitalier de l'Université de Montréal Research Center
  • Université de Montréal

External person

Anita MacDonald

  • Birmingham Women's and Children's NHS Foundation Trust

External person

Christine M. Mueller

  • U.S. Food and Drug Administration
  • United States Food and Drug Administration
  • Office of Orphan Products Development

External person

Juxing Chen

  • Oregon Health Sciences Center
  • Oregon Health and Science University
  • Departments of Medicine and Cell and Developmental Biology
  • Department of Cell and Developmental Biology
  • Department of Cell and Developmental Biology
  • Department of Cell and Developmental Biology
  • Department of Cell and Developmental Biology
  • Departments of Physiology and Pharmacology and Cell and Developmental Biology
  • Dept. of Cell and Devmtl. Biology
  • Department of Cell Biology
  • Novus International

External person

Joshua Lilienstein

  • BioMarin Pharmaceutical Inc.

External person

D. C. Rockey

  • Medical University of South Carolina
  • American Gastroenterological Association
  • Department of Medicine
  • University of Texas Southwestern Medical Center
  • Department of Internal Medicine
  • Outhwestern Medical Center

External person

Ulrike Mütze

  • Heidelberg University 

External person

D. Karall

  • Innsbruck Medical University
  • Innsbruck Medical University
  • University of Innsbruck
  • Department of Pediatrics IV
  • Clinic for Paediatrics I
  • Clinic for Pediatrics I

External person

Karen Regan

  • National Institutes of Health
  • Office of Dietary Supplements
  • Division of Nutrition Research Coordination

External person

Amy Koski

  • Oregon Health and Science University
  • Center for Embryonic Cell and Gene Therapy
  • Division of Reproductive and Developmental Sciences

External person

Anahita Rassi

  • University of Zurich
  • Department of Pediatrics

External person

Alejandro Cisterna Garcia

  • University of Murcia

External person

Michael Lasarev

  • Oregon Health and Science University
  • Oregon Institute of Occupational Health Sciences
  • Center for Research on Occupational and Environmental Toxicology
  • Center for the Study of Chronic
  • Portland VA Medical Center
  • Life Sciences Division
  • Lawrence Berkeley National Laboratory
  • Center for Research on Occupational and Environmental Toxicology
  • Portland VA Center for the Study of Chronic
  • Comorbid Physical and Mental Disorders
  • Oregon Hearing Research Center
  • Center for Research on Occupational and Environmental Toxicology and Department of Neurology
  • Department of Public Health and Preventive Medicine
  • Methamphetamine Abuse Research Center
  • University of Iowa
  • University of Wisconsin-Madison

External person

Pranesh Chakraborty

  • University of Ottawa
  • Department of Pediatrics

External person

M. Ghabril

  • Indiana University Bloomington
  • Gastroenterology and Hepatology
  • Indiana University-Purdue University Indianapolis

External person

James E. Fisher

  • Mayo Clinic Rochester, MN
  • Mayo Medical Center
  • Department of Surgery

External person

Michael K. O'Connor

  • Mayo Clinic Rochester, MN

External person

Tomohiro Hori

  • Gifu University
  • Department of Pediatrics

External person

Gabriella Pridjian

  • Hayward Genetics Center
  • Tulane University
  • Hayward Genetics Center

External person

Martin Joyce-Brady

  • Boston University
  • Pulmonary Center

External person

Thierry Vandendriessche

  • University of Leuven
  • KU Leuven
  • Department of Gene Therapy and Regenerative Medicine
  • Free Universities of Brussels
  • Department of Cardiovascular Sciences

External person

Mary Lou Lindegren

  • Vanderbilt University

External person

Donald G. Musson

  • BioMarin Pharmaceutical Inc.

External person

Stacey M. LaVoie

  • Department of Pediatrics
  • Oregon Health and Science University

External person

Allan M. Lund

  • University of Copenhagen

External person

Rima Izem

  • George Washington University
  • Children's National Medical Center

External person

Dahlia Wafai

  • Oregon Health and Science University

External person

Lori G. Hillin

  • Mayo Clinic Rochester, MN

External person

Nancy Braverman

  • Johns Hopkins Medical Center Baltimore
  • McGill University and the Montreal Children's Hospital Research Institute
  • Johns Hopkins University
  • Laurentian University
  • University of Montreal
  • Department of Pediatrics
  • Department of Human Genetics and Pediatrics
  • McGill University
  • McGill University
  • Department of Pediatrics

External person

Uma M. Reddy

  • Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health
  • Jefferson Medical College of the Thomas Jefferson University
  • Harvard Vanguard Medical Association
  • Eunice Kennedy Shriver National Institute of Child Health and Human Development
  • Uniformed Services University of the Health Sciences
  • National Institutes of Health
  • Thomas Jefferson University
  • University of Alabama at Birmingham
  • Brown University
  • University of Texas Health Science Center at Houston
  • Northwestern University
  • Case Western Reserve University
  • Columbia University
  • University of Utah
  • University of North Carolina at Chapel Hill
  • University of Texas Southwestern Medical Center
  • University of Pittsburgh
  • Ohio State University
  • University of Texas Medical Branch at Galveston
  • Wayne State University
  • Oregon Health and Science University
  • George Washington University
  • Pregnancy and Perinatology Branch
  • Department of Obstetrics and Gynecology
  • Karolinska Institutet
  • Department of Health and Human
  • Tel Aviv Sourasky Medical Center
  • University of Cambridge
  • University of Groningen
  • Drexel University
  • University of Wisconsin-Madison
  • West Midlands Perinatal Institute
  • National Institutes of Health, Bethesda
  • Department of Obstetrics and Gynecology
  • Departments of Obstetrics and Gynecology
  • University of Texas at Austin
  • RTI International
  • Department of Obstetrics and Gynecology
  • University of Texas Health Science Center at San Antonio
  • Emory University
  • University of Virginia
  • Pregnancy and Perinatal Branch
  • Department of Obstetrics and Gynecology
  • Warren Alpert Medical School of Brown University
  • Eunice Kennedy Shriver National Institute
  • Yale University
  • Memorial Hermann Healthcare System

External person

Jana Heringer

  • University Hospital Heidelberg
  • Department of General Pediatrics
  • Heidelberg University 
  • Department of General Paediatrics

External person

Sonia Garcia Ruiz

  • University College London

External person

James WeisfeldAdams

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

External person

Curt Scharfe

  • Yale University

External person

Brad R. Beinlich

  • University of Wisconsin-Madison
  • Department of Neurology

External person

Sean M. Oakes

  • Boston University
  • Pulmonary Center

External person

E. Gilbert-Barness

  • University of South Florida

External person

Diane M. Korngiebel

  • University of Washington
  • Department of Biomedical Informatics and Medical Education

External person

Ruby E. Perez

  • Department of Behavioral Neuroscience
  • Oregon Health and Science University

External person

Tomonari Hayama

  • Oregon Health and Science University
  • Center for Embryonic Cell and Gene Therapy
  • Division of Reproductive and Developmental Sciences
  • Center for Embryonic Cell and Gene Therapy

External person

Anne Dee

  • BioMarin Pharmaceutical Inc.

External person

A. Messing

  • University of Wisconsin-Madison
  • Dept. of Pathobiological Sciences
  • Department of Neurology
  • University of Wisconsin-Madison
  • University of Pennsylvania
  • Department of Pathology and Laboratory Medicine

External person

D. Chang

  • University of Wisconsin-Madison
  • Biochemical Genetics Program

External person

J. Wolff

  • University of South Florida

External person

Richard G. Boles

  • University of Southern California
  • Department of Pediatrics

External person

F. Feillet

  • Hôpital d'Enfants
  • CHU de Nancy
  • Department of Pediatrics

External person

Danielle Black

  • University of Pittsburgh

External person

Karsten Wursthorn

  • Hannover Medical School
  • Hannover Medical School
  • Gastroenterology
  • Oregon Stem Cell Center
  • Oregon Health and Science University

External person

Lukkana Suksanpaisan

  • Imanis Life Sciences
  • Mayo Clinic Rochester, MN
  • Department of Radiology

External person

C. Norris

  • Hyperion Therapeutics

External person

M. R. Skeels

  • Oregon Health and Science University
  • Quest Diagnostics Incorporated
  • Oregon State Public Health Laboratory
  • Oregon State Public Health Laboratory
  • Department of Pediatrics
  • Department of Pediatrics
  • Northwest Regional Newborn Screening Program
  • Quest Diagnostics Incorporated

External person

Taosheng Huang

  • University of California
  • University of California at Irvine
  • Cincinnati Children's Hospital Medical Center
  • Division of Human Genetics
  • Department of Pediatrics

External person

Shiyu Luo

  • Division of Human Genetics
  • Cincinnati Children's Hospital Medical Center

External person

Sandra M. Sirrs

  • Vancouver General Hospital, University of British Columbia
  • University of British Columbia

External person

Shannon Babcock

  • Oregon Health and Science University

External person

Jacqueline H. Sanz

  • George Washington University
  • Children’s National Hospital

External person

Curtis R. Coughlin

  • University of Colorado Anschutz Medical Campus

External person

Jose E. Abdenur

  • Children's Hospital of Orange County
  • University of California at Irvine
  • Pediatrics
  • Department of Pediatrics
  • Division of Metabolic Disorders

External person

Stephanie Grünewald

  • Metabolic Unit Great Ormond Street Hospital and Institute for Child Health
  • University College London
  • The Metabolic Unit
  • UCL Institute of Child Health and Great Ormond Street Hospital for Children NHS Foundation Trust

External person

Brigitte Chabrol

  • Centre de Référence des Maladies Héréditaires du Métabolisme
  • Assistance publique - Hôpitaux de Marseille
  • Hôpital d'adultes de la Timone

External person

Philippe Campeau

  • George Washington University
  • Baylor College of Medicine
  • Department of Pediatrics
  • Department of Molecular and Human Genetics
  • University of Montreal
  • Department of Pediatrics
  • Department of Pediatrics
  • Université de Montréal

External person

Chris Mühlhausen

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

External person

L. Rien

  • Quest Diagnostics, Inc.
  • Oregon State Public Health Laboratory
  • Quest Diagnostics Incorporated
  • Oregon Health and Science University
  • Department of Pediatrics
  • Department of Pediatrics
  • Northwest Regional Newborn Screening Program
  • Quest Diagnostics Incorporated

External person

Yu Wen Hung

  • Oregon Health and Science University
  • Brooklyn Hospital Center
  • Department of Pediatrics
  • Department of Molecular and Medical Genetics
  • Brooklyn Hospital Center

External person

André L.Santos Pessoa

  • Albert Sabin Children’s Hospital
  • Universidade Estadual do Ceará

External person

Min Dong

  • Division of Clinical Pharmacology
  • University of Cincinnati

External person

Alejandro Dorenbaum

  • BioMarin Pharmaceutical Inc.

External person

Bret Goodpaster

  • University of Pittsburgh
  • Sanford Burnham Medical Research Institute
  • Sanford-Burnham Medical Research Institute
  • Florida Hospital
  • Department of Medicine
  • Translational Research Institute for Metabolism and Diabetes
  • Center for Research on Health Care
  • Division of Endocrinology and Metabolism
  • Sanford Burnham Prebys Medical Discovery Institute
  • AdventHealth Orlando

External person

Elisenda CortèsSaladefont

  • Hospital Sant Joan de Deu
  • University of Barcelona
  • CIBER - Center for Biomedical Research Network
  • Instituto de Salud Carlos III

External person

Steven Yannicelli

  • Nutricia North America
  • Medical and Scientific Affairs
  • MedImmune

External person

S. Milstien

  • National Institutes of Health
  • Laboratory of Neurochemistry

External person

Jodi D. Hoffman

  • Tufts-New England Medical Center
  • Tufts University
  • Division of Genetics
  • Tufts Medical Center

External person

John J. Mitchell

  • McGill University Health Center
  • McGill University

External person