Joel Charrow

  • 6848 Citations
1978 …2020

Research output per year

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Network

Amy Paller

Person: Academic

Marilyn B Mets

  • Ophthalmology - Professor, Lillian Sherman Cowen Reiger and Harold L.S. Cowen Research Professorship in Pediatric Ophthalmology

Person: Academic

Sharon M Unti

Person: Academic

Conrad L Epting

Person: Academic

Cynthia V Stack

Person: Academic

John J Millichap

Person: Academic

Neal J. Weinreb

  • University of Pennsylvania
  • Fabry Disease Treatment Center
  • University Research Foundation for Lysosomal Storage Diseases
  • Univ. Res. Found. Lysosomal S.
  • International Collaborative Gaucher Group
  • Northwest Oncology Hematology Associates PA
  • University Hospitals
  • University Research Foundation for Lysosomal Storage Diseases
  • University Research Foundation
  • University of Miami
  • Fabry Disease Treatment Center
  • University Hospital
  • Department of Hematology
  • Lysosomal Storage Diseases Inc.
  • Northwest Oncol. Hematol. Associates
  • Department of Medicine
  • Departments of Human Genetics and Medicine (Hematology)
  • Inc

External person

Paige Kaplan

  • University of Pennsylvania
  • International Collaborative Gaucher Group
  • Division of Metabolism and Genetics
  • Lysosomal Center
  • Department of Pediatrics
  • Section of Metabolic Diseases
  • Department of Pediatrics
  • Department of Pediatrics

External person

Mistry, Pramod

  • Yale University
  • Icahn School of Medicine at Mount Sinai
  • International Collaborative Gaucher Group
  • Department of Medicine
  • Department of Medicine
  • Department of Medicine
  • Department of Genetics
  • Department of Internal Medicine
  • Department of Internal Medicine and Pediatrics

External person

Gregory Pastores

  • University College Dublin
  • New York University
  • Harvard University
  • International Collaborative Gaucher Group
  • Rare Disease Unit
  • Tufts University
  • Department of Neurology
  • Division of Nephrology
  • Department of Neurology
  • Department of Medicine/National Centre for Inherited Metabolic Disorders
  • Shire
  • Department of Neurology

External person

C. Ronald Scott

  • University of Washington
  • Seattle Children's Hospital
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Pediatrics

External person

Barry E. Rosenbloom

  • Cedars-Sinai Medical Center
  • International Collaborative Gaucher Group
  • Tower Hematology Oncology
  • Tower Oncology
  • Cedars-Sinai/Tower Hematology Oncology
  • Dept. of Hematology and Oncology
  • Cedars-Sinai Hospital
  • Dept. of Hematology and Oncology

External person

Andersson, Hans C.

  • Tulane University
  • American College of Medical Genetics
  • International Collaborative Gaucher Group
  • Human Genetics Program
  • School of Medicine
  • Human Genetics Program
  • Hayward Genetics Center
  • Human Genetics Program

External person

Rebecca S. Wappner

  • University of Pennsylvania
  • Indiana University-Purdue University Indianapolis
  • Indiana University Bloomington
  • Klinik F. Gastroenterologie
  • Depts. Pediat. Med. Molec. Genet.
  • Department of Medical and Molecular Genetics

External person

Kolodny, Edwin H.

  • New York University
  • International Collaborative Gaucher Group
  • University of North Carolina
  • Department of Neurology
  • Department of Neurology
  • Department of Neurology

External person

Zimran, Ari

  • Hebrew University of Jerusalem
  • Shaare Zedek Medical Center
  • Riley Hospital for Children
  • Depts. Pediat. Med. Molec. Genet.
  • Gaucher Clin. and Dept. of Medicine
  • Gaucher Clinic
  • Gaucher Clinic

External person

G. A. Grabowski

  • Cincinnati Children's Hospital Medical Center
  • University of Cincinnati
  • University of Maryland, Baltimore
  • Division and Program in Human Genetics
  • Division of Human Genetics
  • Division of Human Genetics
  • Department of Pediatrics
  • Department of Pediatrics
  • Children's Hospital Research Foundation

External person

William R. Wilcox

  • Cedars-Sinai Medical Center
  • Emory University
  • International Skeletal Dysplasia Reg
  • Division of Medical Genetics
  • Medical Genetics Institute
  • Department of Human Genetics
  • Department of Human Genetics
  • Division of Medical Genetics

External person

S. Waldek

  • Hope Hospital
  • University of Sunderland
  • Independent Consultant
  • Christie NHS Foundation Trust
  • National Health Service
  • Department of Lysosomal Storage Diseases
  • Department of Renal Medicine
  • Northern Care Alliance NHS Group

External person

Dominique P. Germain

  • Assistance publique – Hôpitaux de Paris
  • Université de Versailles
  • ComUE Paris-Saclay
  • Centre de Reference de la Maladie de Fabry et des Maladies Hereditaires du Tissu Conjonctif
  • Division of Medical Genetics
  • Université Paris-Saclay

External person

Priya Kishnani

  • Duke University
  • University of Pittsburgh
  • Room 237
  • Department of Pediatrics
  • Division Chief Medical Genetics
  • Division of Medical Genetics
  • Department of Pediatrics
  • Department of Pediatrics
  • Division of Medical Genetics

External person

David G. Warnock

  • University of Alabama at Birmingham
  • University of Alabama
  • Thomas Jefferson University
  • Washington University St. Louis
  • Winthrop University Hospital
  • Yeshiva University
  • University of California at Los Angeles
  • Indiana University-Purdue University Indianapolis
  • Northwest Kidney Centers
  • Houston Kidney Center
  • Rutgers - The State University of New Jersey, New Brunswick
  • Johns Hopkins University
  • Northwest Kidney Centers
  • Northwestern University
  • Watson Laboratories, Inc.
  • Cardiology Division
  • Division of Nephrology
  • Division of Nephrology
  • External Advisory Committee
  • Rutgers University

External person

David H. Gutmann

  • Children's Memorial Hospital
  • Washington University St. Louis
  • Box 8111
  • Departments of Neurology
  • University of Washington
  • Department of Neurology
  • School of Medicine
  • Department of Neurology
  • Neurofibromatosis Center
  • Department of Neurology
  • Department of Neurology
  • Neurofibromatosis Clinic
  • Cancer Genome Atlas Program Office
  • National Institutes of Health

External person

Thomas Andrew Burrow

  • Cincinnati Children's Hospital Medical Center
  • University of Arkansas for Medical Sciences
  • Division of Human Genetics
  • Arkansas Children's Hospital

External person

Carla Hollak

  • University of Amsterdam
  • Department of Hematology
  • Section of Geriatrics
  • Department of Hematology

External person

Mark J. Greenwald

  • Children's Memorial Hospital
  • Children's Hospital and Regional Medical Center Seattle
  • The University of Chicago
  • Northwestern University
  • L.V. Prasad Eye Institute India
  • Children's Hospital of Wisconsin
  • Medical College of Wisconsin
  • The Departments of Pediatrics
  • Division of Pediatric Ophthalmology
  • Division of Ophthalmology
  • Division of Ophthalmology
  • Department of Surgery
  • Department of Ophthalmology
  • Department of Pediatrics
  • Division of Dermatology
  • Department of Pediatrics
  • Division of Genetics
  • Department of General and Emergency Pediatrics
  • Cornea and Anterior Segment Service
  • Department of Ophthalmology
  • Department of Ophthalmology
  • Regional Medical Center

External person

Stephan Vom Dahl

  • University College London
  • University of Cologne
  • St. Franziskus-Hospital Koln
  • Metabolic Unit
  • Klinik für Innere Medizin
  • Great Ormond Street Hospital for Children NHS Trust

External person

Giraldo, Pilar

  • University of Zaragoza
  • Translational Research Unit
  • CIBER - Center for Biomedical Research Network
  • CIBER de Enfermedades Raras
  • Servicio de Hematologia
  • Grupo de Estudio de Enfermedades Hematologícas y Metabolicas
  • Medicina Metabólica Hereditaria

External person

Wisch, J. S.

  • Partners HealthCare
  • University of Pennsylvania
  • Department of Hematology

External person

Nicola Longo

  • University of Massachusetts Medical School
  • University of Utah
  • Emory University
  • King Edward Memorial Hospital India
  • Department of Pediatrics
  • Department of Pediatrics
  • Dept. Biochemistry Molecular Biology
  • Departments of Medical Genetics and Pediatrics
  • Department of Pediatrics
  • Pediatric Gastroenterology Department
  • Division of Medical Genetics
  • Department of Genetics

External person

Robert J. Hopkin

  • Cincinnati Children's Hospital Medical Center
  • University of Cincinnati
  • Division of Human Genetics
  • Department of Pediatrics
  • Division of Human Genetics
  • Drug Discovery Center
  • Department of Pediatrics

External person

Esplin, J.

  • University of Pennsylvania
  • University of Southern California
  • Department of Hematology

External person

Nancy Burton Esterly

  • The University of Chicago
  • Children's Memorial Hospital
  • Medical College of Wisconsin
  • University of California at San Francisco
  • Rady Children's Hospital
  • Washington University St. Louis
  • Children's Hospital of Wisconsin Wauwatosa
  • Northwestern University
  • Rush University
  • Children's Hospital of Wisconsin
  • Baylor College of Medicine
  • the Dermatology Associates
  • Harvard University
  • Bone Marrow Transplant Program
  • Department of Dermatology
  • Department of Pediatrics
  • Department of Dermatology
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Dermatology
  • Division of Dermatology
  • Division of Dermatology
  • Division of Dermatology
  • Department of Dermatology
  • Departments of Dermatology and Pediatrics
  • Division of Ophthalmology
  • Department of Ophthalmology
  • Division of Dermatology
  • Division of Genetics
  • Department of General and Emergency Pediatrics
  • Division of Dermatology
  • Division of Pediatrics
  • Department of Neurology
  • Department of Dermatology
  • Division of Dermatology
  • Department of Pediatrics
  • Department of Dermatology
  • Department of Pediatrics
  • the Department of Dermatology
  • Division of Pediatric Surgery
  • the Division of Dermatology
  • Departments of Dermatology and Pediatrics

External person

Elstein, Deborah

  • Hebrew University of Jerusalem
  • Shire
  • Shaare Zedek Medical Center
  • Gaucher Clinic

External person

Maryam Banikazemi

  • New York Presbyterian Hospital
  • New York University
  • Icahn School of Medicine at Mount Sinai
  • Department of Neurology and Pediatrics
  • Department of Genetics and Genomic Sciences

External person

Manisha Balwani

  • Icahn School of Medicine at Mount Sinai
  • Department of Genetics and Genomic Sciences

External person

Nancy Balkin

  • Children's Memorial Hospital
  • University of Maryland, Baltimore
  • Northwestern University
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Pediatrics

External person

M. M. Cohen

  • Children's Memorial Hospital
  • University of Maryland, Baltimore
  • Northwestern University
  • Department of Pediatrics

External person

Paul Harmatz

  • Kaiser Permanente
  • Children's Hospital Oakland Research Institute
  • University of California at San Francisco
  • Department of Pediatrics
  • Department of Gastroenterology
  • Department of Gastroenterology and Nutrition
  • Children's Hospital
  • Depts. of Pediatrics and Medicine

External person

Jeffrey S. Nye

  • Pfizer
  • Johnson & Johnson
  • The University of Chicago
  • Northwestern University
  • Duke University
  • NW University Medical Center
  • NW University Medical School
  • Pharmacia, Inc
  • Children's Memorial Hospital
  • NW University Medical School
  • Dept. of Molecular Pharmacology and Biological Chemistry
  • Pharmacia Corp.
  • Department of Pediatrics
  • Department of Molecular Pharmacology and Biological Chemistry
  • Department of Pediatrics
  • Department of Molecular Pharmacology
  • Northwestern Univ. Med. Sch.
  • Center for Human Genetics
  • NW University Medical School
  • Bone Marrow Transplant Program
  • Department of Molecular Pharmacology
  • Department of Molecular Pharmacology
  • Department of Pediatrics
  • Department of Pathology
  • Center for Human Genetics
  • Department of Pathology

External person

Cole, J. Alexander

  • Genzyme Corporation
  • Genzymea Sanofi Company
  • Biomedical Data Sciences and Informatics

External person

Laura Massella

  • IRCCS Ospedale pediatrico Bambino Gesù - Roma
  • Divison of Nephrology
  • Divison of Nephrology
  • Division of Nephrology

External person

Glenda Hendson

  • University of British Columbia
  • Rare Disease Foundation
  • Department of Anatomic Pathology
  • Department of Pathology
  • Department of Anatomic Pathology
  • Department of Pathology

External person

Gaemers, Sebastiaan J.M.

  • Genzyme Corporation

External person

Kory Keller

  • Oregon Health and Science University
  • Oregon Institute on Disability and Development
  • Child Development and Rehabiliation Center
  • Child Development and Rehabilitation Center
  • Oregon Institute on Disability and Development
  • Child Development and Rehabiliation Center

External person

Sims, Katherine

  • Harvard University
  • Center for Human Genetic Research and Neurology Department
  • Department of Neurology
  • Center for Human Genetic Research and Department of Neurology
  • Department of Neurology
  • University of Pennsylvania

External person

Cornelius F. Boerkoel

  • National Institutes of Health
  • Rare Disease Foundation
  • University of British Columbia
  • Child and Family Research Institute, Canada
  • Provincial Medical Genetics Program
  • Department of Medical Genetics
  • Provincial Medical Genetics Program
  • Department of Medical Genetics
  • Department of Medical Genetics

External person

Ashok Vellodi

  • University College London
  • Children's Memorial Health Institute
  • University of Zaragoza
  • Metabolic Unit
  • Department of Metabolic Diseases
  • U. de Enferm. Metabólicas
  • Department of Metabolic Diseases
  • Great Ormond Street Hospital for Children NHS Trust

External person

Seymour Packman

  • University of California at San Francisco
  • University of California Office of the President
  • Department of Pediatrics
  • Mattel Children's Hospital
  • Division of Pediatrics

External person

Loren Pena

  • The University of Chicago
  • University of Illinois at Chicago
  • Northwestern University
  • National Institutes of Health
  • University of Pittsburgh
  • Duke University
  • Division of Medical Genetics
  • Department of Microbiology-Immunology
  • Department of Human Genetics
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Human Genetics
  • Department of Pediatrics
  • Department of Microbiology and Immunology
  • Department of Pediatrics Duke Health
  • Department of Pediatrics
  • University of Cincinnati
  • Department of Pediatrics

External person

Rosalie E. Ferner

  • King's College London
  • Guy's and St Thomas' NHS Foundation Trust
  • Department of Neurology
  • Department of Neurology
  • Department of Clinical Neurosciences
  • Neurofibromatosis Centre

External person

Manesh R. Patel

  • Duke University
  • Cardiothoracic Department
  • Society for Cardiovascular Angiography and Interventions Representative
  • Universitaria Pisana
  • Division of Cardiology
  • Division of Cardiovascular Medicine
  • Cardiothoracic Department
  • Division of Cardiology

External person

Priya S. Kishnani

  • Department of Pediatrics
  • Duke University
  • University of Pittsburgh
  • Division of Medical Genetics
  • Department of Pediatrics
  • Department of Pediatrics

External person

Fraga, Cristina

  • HDES Hospital

External person

Shankar, Suma P.

  • University of Iowa
  • Emory University
  • University College Dublin
  • Department of Ophthalmology and Visual Sciences
  • Departments of Human Genetics and Ophthalmology
  • Department of Human Genetics
  • Department of Medicine/National Centre for Inherited Metabolic Disorders
  • Department of Ophthalmology
  • Department of Human Genetics

External person

Nicholls, Kathy

  • University of Texas Southwestern Medical Center
  • Royal Melbourne Hospital
  • Reservoir Private Hospital

External person

Eric A. Crombez

  • University of California at Los Angeles
  • Shire Human Genetic Therapies, Inc.
  • Biostatistics and Statistical Programming Department
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Shire
  • Department of Pediatrics
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Rare Disease Unit, Shire
  • Shire
  • Rare Disease Unit

External person

Marie Morimoto

  • University of British Columbia
  • Rare Disease Foundation
  • Child and Family Research Institute, Canada
  • Provincial Medical Genetics Program
  • Department of Medical Genetics
  • Department of Medical Genetics
  • Department of Medical Genetics

External person

Ana Maria Martins

  • Universidade Federal de São Paulo
  • Reference Center for Inborn Errors of Metabolism
  • Department of Pediatrics

External person

Goldblatt, Jack

  • Charité – Universitätsmedizin Berlin
  • University of Western Australia
  • King Edward Memorial Hospital for Women
  • Genetic Serv. of Western Australia
  • Genetic Services and Familial Cancer Program of Western Australia
  • Genetic Services of WA
  • King Edward Memorial Hospital for Women

External person

Dominique Bonneau

  • Université d'Angers
  • Département de Génétique
  • Département de Génétique
  • Département de Biochimie et Génétique
  • Service de Génétique Médicale
  • Université de Nantes
  • Nantes University Hospital

External person

D. G. Bichet

  • University of Montreal
  • Clinical Research Division
  • Départements de Médecine
  • Division of Nephrology

External person

Derralynn A. Hughes

  • Christie NHS Foundation Trust
  • University College London
  • National Health Service
  • Department of Haematology
  • Department of Haematology
  • Royal Free Hospital
  • Department of Academic Haematology
  • Royal Free London NHS Trust

External person

Elena Lukina

  • Hematology Research Center
  • Russian Academy of Medical Sciences

External person

Generoso Andria

  • University of Naples Federico II
  • Medical Genetics
  • Department of Paediatrics

External person

Laurie Smith

  • Children's Mercy Hospitals and Clinics
  • Center for Pediatric Genomic Medicine
  • Center for Pediatric Genomic Medicine
  • Division of Clinical Genetics

External person

Prakesh-Cheng, Ainu

  • Icahn School of Medicine at Mount Sinai
  • Department of Genetics
  • Department of Genetics

External person

Christine M. Eng

  • Baylor College of Medicine
  • National Institutes of Health
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Baylor Miraca Genetics Laboratories
  • Baylor Miraca Genetics Laboratories, LLC
  • Baylor Genetics, LLC

External person

Gustavo Cabrera

  • Grupo Medico Del Viso
  • Centro Cardiovascular Bolivar

External person

Peterschmitt, M. Judith

  • Genzyme Corporation

External person

Anna Tylki-Szymańska

  • Children's Memorial Health Institute
  • Department of Metabolic Diseases
  • Department of Pediatric Nutrition and Metabolic Diseases
  • Department of Metabolic Diseases

External person

Jonathan Zonana

  • Oregon Health and Science University
  • Oregon Institute on Disability and Development
  • Child Development and Rehabiliation Center
  • Child Development and Rehabilitation Center
  • Oregon Institute on Disability and Development
  • Department of Molecular and Medical Genetics
  • Child Development and Rehabiliation Center

External person

Simone L. Ardern-Holmes

  • University of Sydney
  • Department of Neurology
  • Department of Neurology

External person

Nataša Stajić

  • Institute of Mother and Child Healthcare of Serbia
  • Institute of Mother and Child Healthcare

External person

Georges Deschenes

  • Hôpital Robert Debré AP-HP
  • Département de Pédiatrie

External person

Nathalie Guffon

  • Hospices civils de Lyon
  • Hôpital Édouard Herriot
  • Centre de référence des maladies héréditaires du métabolisme
  • HÔpital Femme Mère Enfant
  • Ĥopital Femme Mére Enfants
  • Hôpital Femme Mère Enfant
  • Hôpital Femme Mère Enfant
  • Centre de référence des maladies héréditaires du metabolism
  • Centre de Référence des Maladies Héréditaires du Métabolisme
  • Hôpital Femme Mère Enfant

External person

Anja Stein

  • University of Duisburg-Essen
  • Department of Pediatrics
  • Department of Neonatology

External person

Ana Jovanovic

  • Christie NHS Foundation Trust
  • Department of Endocrinology and Metabolic Medicine
  • National Health Service
  • Northern Care Alliance NHS Group

External person

Lee, Hak Myung

  • Wright State University
  • Shire
  • Department of Biomedical

External person

B. Dulisse

  • RTI International
  • Genzyme Corporation
  • RTI International

External person

Roberta Lemay

  • Genzyme Corporation
  • Sanofi Genzyme
  • a Sanofi company
  • Strategic Epidemiology & Biostatistics
  • Strategic Epidemiology & Biostatistics

External person

David M. Parham

  • University of Arkansas for Medical Sciences
  • University of Arkansas Little Rock
  • University of Oklahoma
  • University of Southern California
  • University of Texas MD Anderson Cancer Center
  • Dell
  • Children's Memorial Hospital
  • University of Nebraska
  • Cincinnati Children's Hospital Medical Center
  • University of Missouri
  • Department of Pathology
  • Children's Ambulatory Blood and Cancer Center
  • Medical Center
  • Children's Hospital
  • School of Medicine
  • School of Medicine
  • Medical Center
  • Department of Pediatric Pathology
  • Department of Pathology
  • Department of Pathology
  • Department of Hematology/Oncology
  • University of Texas Southwestern Medical Center
  • University of Nebraska Omaha
  • University of Nebraska-Lincoln

External person

Elena Levtchenko

  • KU Leuven
  • Department of Pediatric Nephrology
  • Department of Pediatric Nephrology and Growth and Regeneration
  • Department of Development and Regeneration

External person

David B. Lewis

  • Virginia Mason Medical Center
  • Stanford University
  • University of Washington
  • Div. Immunol. and Transplant. Biol.
  • Department of Pediatrics
  • Department of Immunology
  • PANS Clinic and Research Program
  • Division of Allergy

External person

Stefan Fründ

  • University of Münster
  • Department of General Pediatrics

External person

Alberto Ortiz

  • Universidad Autónoma de Madrid
  • Vanderbilt University
  • Laboratorio de Nefrología
  • IISFundacion Jimenez Diaz
  • University of Pennsylvania
  • IISFundacion Jimenez Diaz
  • Laboratorio de Nefrología
  • Department of Medicine
  • Division of Nephrology and Hypertension
  • Penn Center for Molecular Studies of Kidney Disease
  • Department of Medicine
  • Unidad de Dialisis
  • Unidad de Dialisis

External person

Alexander Bassuk

  • Children's Memorial Hospital
  • NW University Medical School
  • University of Iowa
  • Northwestern University
  • Northwestern University, Feinberg School of Medicine
  • NW Univ. Feinberg Sch. of Medicine
  • Department of Neurology
  • Bone Marrow Transplant Program
  • Division of Neurology
  • Department of Pediatrics
  • Department of Neurology
  • Department of Pediatrics
  • Interdisciplinary Graduate Program in Genetics
  • Department of Neurology
  • Interdisciplinary Graduate Program in Molecular and Cellular Biology
  • Department of Neurology
  • Departments of Pediatrics and Neurology
  • Departments of Pediatrics
  • Interdisciplinary Graduate Program of Neuroscience
  • Dept. of Pediat./Division of Neurol.
  • Departments of Pediatrics and Neurology
  • Departments of Pediatrics

External person

Danda, Sumita

  • Christian Medical College

External person

Kacena, Katherine

  • Molecular Insight Pharmaceuticals Inc.
  • Genzyme Corporation

External person

Mankin, Henry J.

  • Harvard University
  • Orthopedic Oncology Service

External person

David Finegold

  • University of Pittsburgh
  • Department of Pediatrics
  • Department of Psychiatry at the Western Psychiatric Institute

External person

Trusha T. Patel

  • Duke University
  • Department of Pediatrics
  • Department of Pediatrics

External person

Freisens, Selena

  • Genzyme Corporation

External person

Bret Bostwick

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

External person

Frederick M. Cahan

  • The University of Chicago
  • Children's Memorial Hospital
  • Northwestern University
  • Bone Marrow Transplant Program
  • Department of Dermatology
  • Department of Pediatrics

External person

Loguidice, Michael

  • University of Pennsylvania
  • Departments of Neurology and Ophthalmology
  • Division of Neuro-Ophthalmology

External person

Nash, Claudia

  • Illinois Department of Public Health

External person

Majed Dasouki

  • University of Kansas
  • Department of Urology

External person

Paul Fernhoff

  • Emory University

External person

William J. Rhead

  • Children's Hospital of Wisconsin Wauwatosa
  • University of Iowa
  • University of Pittsburgh
  • Medical College of Wisconsin
  • Department of Pediatrics
  • Division of Medical Genetics
  • Departments of Pediatrics

External person

Timothy M. Cox

  • University of Cambridge
  • Department of Medicine

External person

Zabin S. Patel

  • Northwestern University
  • Department of Medical Social Sciences

External person

Trent Hummel

  • Cincinnati Children's Hospital Medical Center
  • Division of Oncology
  • Division of Hematology and Oncology
  • Brain Tumor Center

External person

Arend Bokenkamp

  • Vrije Universiteit Amsterdam
  • Northwestern University
  • Department of Pediatric Nephrology
  • Department of Pediatrics

External person

Drelichman, Guillermo

  • Hospital de Niños Dr. Ricardo Gutiérrez

External person

Gribble, T. J.

  • University of New Mexico
  • University of Pennsylvania
  • Department of Pediatrics

External person

Nicole J. Ullrich

  • University of Texas Southwestern Medical Center
  • Harvard University
  • Dana-Farber Cancer Institute
  • Department of Neurology
  • Pediatric Neuro-Oncology
  • Division of Neuroscience and Behavioral Neurology
  • Department of Neurology
  • Department of Neurology
  • Department of Neurology

External person

Baris, Hagit

  • Harvard University
  • Division of Genetics
  • Technion-Israel Institute of Technology
  • The Genetics Institute

External person

Scott, C. R.

  • University of Washington
  • Department of Pediatrics

External person

Andrea Amalfitano

  • Michigan State University
  • Duke University
  • Room 237
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Microbiology and Molecular Genetics
  • Department of Pediatrics

External person

Erin A. Hayes

  • Children's Memorial Hospital
  • Northwestern University
  • Department of Molecular Pharmacology
  • Department of Molecular Pharmacology and Biological Chemistry
  • Division of Neurosurgery
  • Laboratory for Oculo-Cerebrospinal Investigation
  • Department of Molecular Pharmacology

External person

Christine Kobelka

  • Kaiser Permanente
  • Kaiser Permanente
  • Genetics Department

External person

Darren R. Hargrave

  • University College London
  • Royal Marsden Hospital London
  • Royal Marsden Hospital, Sutton
  • Paediatric Oncology Unit
  • Neuro-oncology and Experimental Therapeutics
  • Royal Marsden NHS Foundation Trust
  • Great Ormond Street Hospital for Children NHS Trust

External person

Rosenbaum, Hanna

  • Rambam Health Care Campus Israel

External person

Rebecca Mardach

  • Kaiser Permanente
  • University of Utah
  • Regional Metabolic Services
  • Regional Metabolic Service
  • Department of Pediatrics

External person

Hangartner, Thomas N.

  • Wright State University
  • Children's Hospital Oakland Research Institute
  • University of California at San Francisco
  • Department of Biomedical
  • Department of Gastroenterology

External person

Barranger, John A.

  • University of Pittsburgh

External person

Heather Shryock

  • Illinois Department of Public Health

External person

Hadjiev, Evgueniy

  • University Hospital Alexandrovska

External person

John A. Phillips

  • VA Medical Center
  • Vanderbilt University
  • Duke University
  • National Institutes of Health
  • Room 237
  • Department of Pediatrics
  • Department of Pediatrics

External person

Underhill, Lisa H.

  • Genzyme Corporation

External person

Turkia, Hadhami Ben

  • Tunis-El Manar University

External person

Andrew K. Gormley

  • University of Oklahoma
  • Department of Pediatrics
  • Department of Pediatrics

External person

Robert J. Desnick

  • Icahn School of Medicine at Mount Sinai
  • Mt. Sinai School of Medicine
  • Department of Human Genetics
  • Department of Genetics and Genomic Sciences

External person

Eugen Mengel

  • Johannes Gutenberg University Mainz
  • Children's Hospital
  • Department of Pediatric and Adolescent Medicine, Villa Metabolica

External person

Jerry Vockley

  • University of Pittsburgh
  • American College of Medical Genetics
  • Cancer Institute
  • Department of Pediatrics
  • Division of Medical Genetics
  • Department of Human Genetics
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Human Genetics

External person

Claire Morgan

  • Genzyme Corporation

External person

Petakov, Milan

  • University of Belgrade

External person

Uri Tabori

  • University of Toronto
  • St. Jude Children Research Hospital
  • Division of Haematology/Oncology
  • Department of Haematology and Oncology
  • Arthur and Sonia Labatt Brain Tumour Research Centre
  • Arthur and Sonia Labatt Brain Tumor Research Center
  • Division of Hematology/Oncology
  • Division of Haematoloty/Oncology
  • Paediatric Neuro-Oncology Program
  • Program in Genetics/Genomic Biology
  • Department of Laboratory Medicine and Pathobiology
  • Department of Oncology
  • Division of Neurosurgery
  • Division of Neurology
  • Princess Margaret Cancer Centre

External person

Mehta, Atul B.

  • University College London
  • Department of Haematology
  • Department of Haematology

External person

Pierre Frange

  • Université Paris 5
  • Pediatric Immunology and Hematology Unit

External person

Ademola Abiose

  • North Ohio Heart Center

External person

Amal El-Beshlawy

  • Pediatric Hematology
  • Cairo University

External person

Ali Jalali

  • The University of Chicago
  • Northwestern University
  • Baylor College of Medicine
  • Department of Neurology
  • Department of Neurology
  • Department of Neurology
  • Department of Neurology
  • Department of Neurosurgery
  • NW Univ.'s Feinberg Sch. of Medicine

External person

D. Ross McLeod

  • University of Calgary
  • Alberta Children's Hospital
  • Department of Medical Genetics
  • Department of Medical Genetics
  • Department of Medical Genetics

External person

Radovan Bogdanović

  • Institute of Mother and Child Healthcare of Serbia
  • Institute of Mother and Child Healthcare

External person

David Mclone

  • Children's Memorial Hospital
  • Northwestern University
  • Ann & Robert H. Lurie Children's Hospital of Chicago
  • Temple University
  • Laboratory for Oculo-Cerebrospinal Investigation
  • NW University Medical School
  • Department of Pathology
  • Department of Neurosurgery
  • Division of Neurosurgery
  • Loyola University Chicago
  • Section of Pediatric Neurosurgery
  • Division of Pediatric Neurosurgery
  • Division of Neurosurgery
  • Division of Pediatric Neurosurgery
  • Department of Anatomy
  • Cornell University
  • Sydney Children's Hospital
  • Div.of Neurological Surgery
  • Case Western Reserve University
  • Lab. for Oculo-cerebrospinal Invest.
  • Department of Neurosurgery
  • Department of Neurosurgery
  • Laboratory for Neural Tube Research
  • Children's Memorial Research Center
  • Division of Neurological Surgery
  • Division of Neurological Surgery
  • Department of Pediatric Urology
  • Division of Pediatric Neurosurgery and Division of Neuroradiology
  • Developmental Biology Program
  • Surgical Outcomes and Quality Improvement Center (SOQIC)
  • Department of Neurosurgery
  • Division of Pediatric Neurosurgery
  • Parkside Center
  • Pediatric Neurosurgery
  • North Shore Neurosurgeons
  • Medical School
  • Feinberg School of Medicine
  • Department of Pediatrics
  • Department of Neurological Surgery
  • Division of Urology
  • Children's Mem. Inst. Educ. and Res.
  • Pediatric Brain Tumor Research Program
  • Department of Pediatrics
  • Pediatric Neurosurgery
  • Children's Hospital Denver
  • Department of Surgery
  • University of Washington
  • Department of Biostructure
  • Department of Psychology
  • Departments of Orthopaedic Surgery and Neurological Surgery
  • Department of Pediatrics-Neurology
  • Division of Neurosurgery
  • Children's National Medical Center
  • Department of Neurosurgery
  • Department of Neurological Surgery
  • Medical School
  • Division of Urology
  • Laboratory of Developmental Neurobiology
  • Division of Neuroimaging
  • Department of Neurological Surgery
  • Children's Memorial Hospital
  • Department of Pediatric Neurosurgery
  • NW University Medical School
  • Lurie Children' Hospital
  • Duke University
  • Department of Neurosurgery
  • Divisions of Neuroradiology
  • Department of Neurological Surgery
  • Spina Bifida Center
  • Developmental Biology Program
  • Laboratory for Oculo-Cerebrospinal Investigation
  • Mary Ann and J. Milburn Smith Child Health Research Program
  • Children's Hospital of Buffalo
  • Department of Radiology
  • Baptist Hospital of Miami
  • Department of Neurosurgery

External person

Salman Kirmani

  • Mayo Clinic Rochester, MN
  • Department of Medical Genetics
  • Department of Medical Genetics

External person

Robert O. Hoffman

  • University of Utah
  • University of Sydney
  • Department of Ophthalmology and Visual Sciences

External person

Nedd, Khan

  • Infusion Associates

External person

Maison-Blanche, Pierre

  • Université Paris 7
  • Cardiology Unit

External person

Pierre Cochat

  • Hospices civils de Lyon
  • Universite Claude Bernard Lyon 1
  • Institut national de la santé et de la recherche médicale
  • CNRS-IN2P3, Institut de Physique Nucléaire de Lyon
  • Pediatric Service
  • Service de Pe ́diatrie
  • Université de Lyon

External person

Laura E. Case

  • Duke University
  • Room 237
  • Dept. of Comm. and Family Medicine
  • Dept. of Comm. and Family Medicine

External person

Francine Kim

  • Children's Memorial Hospital
  • Northwestern University
  • Division of Diagnostic Imaging
  • Department of Pediatrics
  • Department of Medical Imaging
  • Department of Medical Imaging
  • Department of Medical Imaging
  • Department of Pediatrics

External person

Amy S. Rosenberg

  • United States Food and Drug Administration
  • Division of Therapeutic Proteins
  • Division of Therapeutic Proteins

External person

S. Waldek

  • University of Sunderland
  • Independent Consultant
  • Christie NHS Foundation Trust
  • Hope Hospital

External person

Chris M. Harris

  • University College London
  • Plymouth Institute of Neuroscience
  • Great Ormond Street Hospital for Children NHS Trust

External person

R. Abichandani

  • Genzyme Corporation
  • Shire

External person

Larissa T. Bilaniuk

  • University of Pennsylvania
  • Department of Radiology
  • Department of Radiology
  • Children’s Hospital of Philadelphia
  • Department of Radiology
  • Section of Neuroradiology

External person

Rong Shao

  • Illinois Department of Public Health

External person

Peter Stenzel

  • Oregon Health and Science University
  • Department of Dermatology
  • Department of Pathology

External person

Antonio Baldellou

  • University of Zaragoza
  • U. de Enferm. Metabólicas
  • Department of Pediatrics

External person

Ian J. Cohen

  • Tel Aviv University
  • Dept. of Paediatr. Haematol. Oncol.
  • Dept. of Pediat. Hematology Oncology

External person

Michael Mauer

  • University of Minnesota
  • Departments of Medicine and Pediatrics
  • Department of Pediatrics

External person

C. Nur Semerci

  • Pamukkale University
  • Department of Medical Genetics

External person

M. Semin Fenkçi

  • Cerrahi Hospital
  • Department of Internal Medicine

External person

Thomas Lücke

  • Ruhr University Bochum
  • Department of Neuropediatrics
  • Department of Neuropediatrics
  • Kiel University

External person

Roger J. Packer

  • Children's National Health System
  • Washington University St. Louis
  • Children's National Medical Center
  • University of Pennsylvania
  • Duke University
  • George Washington University
  • Memorial Sloan-Kettering Cancer Center
  • Brain Tumor Institute, Center for Neuroscience and Behavioral Medicine, Children’s National Health System
  • Georgetown University
  • Children's National Hospital
  • Children’s Hospital of Philadelphia
  • Brain Tumor Institute
  • Department of Neurology
  • Center for Neuroscience and Behavioral Medicine
  • Department of Neurosurgery
  • Division of Oncology
  • Brain Tumor Institute
  • Children's National
  • Department of Neurology and Center for Neuroscience Research
  • Division of Neurology
  • Multiple Sclerosis Division
  • Gilbert Family Neurofibromatosis Institute
  • Center for Neuroscience and Behavioral Medicine
  • Department of Neurology

External person

Villalobos, Jacobo

  • Universidad Central de Venezuela

External person

Cox, Gerald F.

  • Editas
  • Genzyme Corporation
  • Editas Medicine

External person

Michael J. Fisher

  • University of Pennsylvania
  • University of Texas Southwestern Medical Center
  • University of Sydney
  • Department of Pediatrics
  • Department of Pediatrics
  • Division of Oncology
  • Department of Oncology
  • Department of Pediatric Oncology
  • Division of Oncology
  • Washington University St. Louis
  • Department of Pediatrics
  • The Division of Oncology

External person

Yuan Tsong Chen

  • Academia Sinica Taiwan
  • Duke University
  • Academia Sinica - Institute of Biomedical Sciences
  • Room 237
  • Academia Sinica
  • Department of Pediatrics
  • Department of Pediatrics
  • Institute of Biomedical Sciences

External person

Ozlem Goker-Alpan

  • LLC
  • O and O Alpan
  • O and O Alpan
  • O and O Alpan
  • O and O Alpan
  • O and O Alpan
  • O and O Alpan
  • O and O Alpan
  • O and O Alpan
  • O and O Alpan
  • O and O Alpan
  • O and O Alpan
  • O and O Alpan
  • O and O Alpan
  • O and O Alpan
  • Lysosomal Disorders Unit
  • O and O Alpan
  • O and O Alpan
  • O and O Alpan
  • O and O Alpan
  • O and O Alpan
  • O and O Alpan
  • O and O Alpan
  • O and O Alpan
  • O and O Alpan
  • O and O Alpan
  • O and O Alpan
  • O and O Alpan
  • O and O Alpan
  • O and O Alpan
  • O and O Alpan
  • O and O Alpan
  • O and O Alpan
  • O and O Alpan
  • O and O Alpan
  • O and O Alpan
  • O and O Alpan
  • Lysosomal Storage Disorders Section
  • O and O Alpan
  • O and O Alpan
  • O and O Alpan
  • O and O Alpan
  • O and O Alpan
  • O and O Alpan
  • O and O Alpan
  • O and O Alpan
  • O and O Alpan
  • O and O Alpan
  • O and O Alpan

External person

Helen Fryssira

  • National and Kapodistrian University of Athens
  • Athens University Medical School
  • Department of Medical Genetics
  • Department of Medical Genetics
  • Department of Medical Genetics

External person

Suhrad G. Banugaria

  • Duke University
  • Department of Pediatrics
  • Department of Pediatrics

External person

David V. Milford

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

External person

Joanne Mackey

  • Duke University
  • Room 237
  • Center for Human Genetics
  • Department of Pediatrics
  • Center for Human Genetics
  • Department of Pediatrics

External person

Laura J. Balcer

  • Yeshiva University
  • University of Pennsylvania
  • Department of Neurology
  • 3 East Gates Building
  • Division of Neuro-Ophthalmology
  • Cleveland Clinic Foundation
  • Scheie Eye Institute
  • Department of Neurology
  • Division of Neuro-Ophthalmology
  • Division of Neuro-Ophthalmology
  • Departments of Neurology and Ophthalmology
  • Department of Epidemiology
  • Department of Epidemiology
  • Department of Neurosensory Sciences
  • Department of Neurology
  • Division of Neuro-Ophthalmology
  • Division of Neuro-ophthalmology
  • Department of Epidemiology
  • Department of Neurology
  • Department of Ophthalmology
  • Cole Eye Institute
  • Department of Neurology and Ophthalmology
  • Alzheimer's Disease Center
  • Department of Ophthalmology
  • Center for Biomedical Imaging
  • New York University

External person

Khaja Basheeruddin

  • Illinois Department of Public Health

External person

Dorothy K. Grange

  • Washington University St. Louis
  • Children's Memorial Hospital
  • Bone Marrow Transplant Program
  • School of Medicine
  • Division of Genetics and Genomic Medicine
  • Edward Mallinckrodt Department of Pediatrics
  • Department of Pediatrics
  • Department of Pediatrics

External person

Victoria R. Sanders

  • Division of Genetics, Birth Defects and Metabolism
  • Children's Memorial Hospital
  • Division of Genetics
  • Northwestern University
  • Department of Pediatrics

External person

Ales Linhart

  • Charles University
  • Department of Internal Medicine

External person

David A. Bushinsky

  • Universidad Central de Venezuela
  • The University of Chicago
  • University of Rochester
  • Chase Farm Hospital
  • SUNY Upstate Medical University
  • Imperial College London
  • Middlesex Hospital London
  • Michael Reese Hospital
  • Nephrology Division
  • Department of Medicine
  • Department of Medicine
  • Reingold ECG Center
  • Department of Medicine
  • Department of Nephrology
  • Department of Chemical Pathology
  • Division of Nephrology
  • Department of Medicine and Pharmacology and Physiology
  • Division of Behavioral and Psychosocial Medicine
  • Departments of Medicine
  • Department of Pediatrics
  • Department of Medicine
  • Imperial College Healthcare NHS Trust

External person

Behzad Najafian

  • University of Washington
  • Department of Pathology
  • Department of Pathology
  • University of Minnesota

External person

Grant T. Liu

  • Yeshiva University
  • University of Pennsylvania
  • Department of Ophthalmology
  • Dept. Ophthalmol.; Children's H.
  • Cleveland Clinic Foundation
  • Scheie Eye Institute
  • Department of Neurology
  • Division of Neuro-Ophthalmology
  • Division of Neuro-ophthalmology
  • Departments of Neurology and Ophthalmology
  • Neuro-Ophthalmology Service
  • Department of Ophthalmology
  • Department of Ophthalmology
  • Department of Neurosensory Sciences
  • Department of Neurology
  • Division of Neuro-Ophthalmology
  • Division of Neuro-Ophthalmology
  • Department of Neurology
  • Department of Ophthalmology
  • Neuro-Ophthalmology Service
  • Division of Neuro-Ophthalmology
  • Cole Eye Institute
  • Multiple Sclerosis Division
  • Alzheimer's Disease Center
  • Department of Ophthalmology
  • Wills Eye Hospital
  • Hospital of the University of Pennsylvania

External person

H. L. Nadler

  • Wake Forest University
  • Children's Memorial Hospital
  • Northwestern University

External person

Yumi Asakura

  • Kanagawa Children's Medical Center
  • Department of Endocrinology and Metabolism

External person

Stephen Braddock

  • University of Virginia
  • Saint Louis University
  • Department of Pediatrics
  • Department of Pediatrics
  • Cardinal Glennon Children's Medical Center
  • SSM Health Cardinal Glennon Children's Medical Center

External person

Pauline E. Campbell

  • Great Ormond Street Hospital for Children NHS Trust

External person

Eric Bouffet

  • Division of Haematology/Oncology
  • University of Toronto
  • Division of Oncology
  • Brain Tumour Program, Haematology and Oncology
  • Division of Hematology/Oncology
  • Arthur and Sonia Labatt Brain Tumour Research Centre
  • Division of Neurology
  • Center for Cancer and Immunology Research
  • Department of Haematology and Oncology
  • Division of Neurosurgery
  • Division of Hematology-Oncology
  • Department of Pediatrics
  • Paediatric Neuro-Oncology Program
  • Division of Haematoloty/Oncology

External person

B. Silverman

  • University of Texas MD Anderson Cancer Center
  • Children's Memorial Hospital
  • Northwestern University
  • Alkermes Inc
  • Ajou University
  • Section of Endocrinology
  • Bone Marrow Transplant Program
  • Division of Endocrinology
  • Department of Diabetes in Pregnancy Center
  • Department of Pediatrics
  • Division of Endocrinology
  • Division of Endocrinology
  • Department of Medicine and Pediatrics
  • Department of Preventive Medicine
  • Division of Endocrinology
  • Division of General Academic Pediatrics
  • Division of Endocrinology, Metabolism and Molecular Medicine
  • Children's Memorial Inst. Educ. Res.
  • Department of Pediatrics
  • Department of Anesthesiology
  • Division of Pediatric Endocrinology
  • Department of Endocrinology

External person

Marcelo Kerstenetzky

  • Instituto de Medicina Integral Professor Fernando Figueira
  • Instituto Materno Infantil de Pernambuco

External person

Stephanie M. DeArmey

  • Duke University
  • Department of Pediatrics
  • Department of Pediatrics

External person

Dragosky, Marta

  • IMAI-Research

External person

Ida, Hiroyuki

  • Jikei University
  • Department of Pediatrics

External person

Christy Mayfield

  • Warren Clinic
  • Saint Francis Health System

External person

George E. Hoganson

  • Department of Veterans Affairs
  • University of Illinois at Urbana-Champaign
  • University of Illinois at Chicago
  • University of Wisconsin-Madison
  • University of Pittsburgh
  • Duke University
  • Room 237
  • Metabolic and Lipid Research Laboratory
  • Department of Neurology and Pediatrics
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Pediatrics
  • Advocate Children's Hospital
  • Department of Pediatrics
  • University of Illinois at Chicago College of Medicine
  • University of Illinois

External person

Linda Piersall

  • Washington University St. Louis
  • Department of Pediatrics
  • Division of Pediatric Genetics

External person

Mitra Basiratnia

  • Shiraz University of Medical Sciences
  • Department of Pediatric Nephrology

External person

Zhongxin Yu

  • University of Oklahoma
  • Department of Pathology

External person

Robinow, M.

  • Children's Memorial Hospital
  • Division of Genetics

External person

Egidio Spinelli

  • Ann & Robert H. Lurie Children's Hospital of Chicago
  • Children's Memorial Hospital
  • Epilepsy Center and Division of Neurology
  • Northwestern University

External person

Christie Milleson

  • Duke University
  • Department of Pediatrics
  • Department of Pediatrics

External person

Altamura, Davide

  • National Research Council of Italy

External person

Pradeep Vasudevan

  • Leicester Royal Infirmary
  • Department of Clinical Genetics
  • University Hospitals of Leicester NHS Trust

External person

Alison Male

  • University College London
  • North East Thames Regional Genetics Service
  • Clinical Genetics Unit
  • Great Ormond Street Hospital for Children NHS Trust

External person

Owen S. Skinner

  • Proteomics Center of Excellence
  • Northwestern University
  • Departments of Molecular Biosciences and of Chemistry
  • Department of Chemistry
  • Department of Chemistry
  • Departments of Chemistry
  • Department of Chemistry
  • Departments of Chemistry and Molecular Biosciences and the Proteomics Center of Excellence
  • Department of Chemistry
  • Department of Molecular Biosciences
  • Department of Chemistry
  • Department of Chemistry and Molecular Biosciences

External person

Mariana Sandu

  • Northwestern University
  • Children's Memorial Hosipital
  • Children's Memorial Hospital
  • Division of Ophthalmology
  • Surgical Outcomes and Quality Improvement Center (SOQIC)

External person

E. Haan

  • University of Adelaide
  • South Australian Clinical Genetics Service
  • King's College London
  • Women's and Children's Hospital Adelaide
  • SA Pathology
  • SA Pathology
  • School of Paediatrics and Reproductive Health
  • South Australian Clinical Genetics Service
  • Department of Paediatrics
  • Department of Medical Genetics
  • Robinson Research Institute
  • Adelaide Medical School and the Robinson Research Institute
  • Royal Adelaide Hospital
  • Faculty of Health and Medical Sciences

External person

Gijsbers, Abril

  • Universidad Nacional Autonoma de Mexico
  • Departamento de Química de Biomacromoléculas

External person

Evelyne Lerut

  • KU Leuven
  • Department of Pathology
  • Department of Nephrology and Renal Transplantation

External person

G. Hegwer

  • Northwestern University
  • Center for Genetic Medicine and Graduate Program in Genetic Counseling

External person

Bjartmar, Carl

  • Genzyme Corporation
  • Wilson Therapeutics AB

External person

Unger, F. M.

  • Children's Memorial Hospital
  • Division of Genetics

External person

Mellgard, Björn

  • Shire
  • Shire

External person

Bavdekar, Ashish

  • Emory University
  • Department of Ophthalmology

External person

Richard P. Morse

  • Dartmouth College
  • Duke University
  • Department of Pediatrics
  • Departments of Pediatrics and Neurology
  • Department of Pediatrics
  • Room 237

External person

Deborah L. Veerling

  • Duke University
  • Room 237

External person

Laura Davis Keppen

  • Sanford Children's Specialty Clinic

External person

D. F. Fretzin

  • Michael Reese Hospital
  • Children's Memorial Hospital
  • The University of Chicago
  • Department of Pathology
  • Department of Medicine (Dermatology and Hematology) and the Department of Pathology
  • Department of Pathology
  • Department of Pathology

External person

Y. Ben Yoseph

  • Wayne State University
  • Children's Memorial Hospital
  • Northwestern University
  • Department of Pediatrics
  • Bone Marrow Transplant Program

External person

Jensen, Corinna

  • Max Planck Institute for Molecular Genetics
  • Department of Human Genetics

External person

Nevins, Mary

  • Adirondack Pediatrics PC

External person

Christoph Wanner

  • University of Würzburg
  • Department of Medicine
  • Department of Nephrology
  • Division of Nephrology

External person

Dorothea Wand

  • Martin Luther University Halle-Wittenberg
  • Institut für Humangenetik

External person

K. Inui

  • Northwestern University
  • University of Colorado Denver
  • Provost's Office

External person

Day, Jonathan

  • Bio-Marin

External person

Anouk C. Vedder

  • University of Amsterdam
  • Department of Internal Medicine, Endocrinology and Metabolism

External person

R. Frank Kooy

  • University of Antwerp
  • Department of Medical Genetics
  • Medical Genetics

External person

Batista, Julie L.

  • Genzyme Corporation

External person

Lucy D'Agostino McGowan

  • Washington University St. Louis
  • Department of Neurology

External person

Weidemann, Frank

  • University of Würzburg

External person

A. Resai Bengur

  • Duke University
  • Room 237

External person

T. Hashimoto

  • Cancer Research UK
  • The University of Chicago
  • Northwestern University
  • Tokyo Electric Power
  • Shinshu University
  • Johns Hopkins University
  • University of British Columbia
  • Children's Memorial Hospital
  • University of Montreal
  • Department of Biochemistry
  • Department of Pathology
  • Department of Pathology
  • Department of Pathology
  • The Kennedy Institute
  • Department of Pediatrics
  • Division of Genetics
  • Bone Marrow Transplant Program
  • Department of Neurology
  • Department of Pathology and Genetics
  • British Columbia Children's Hospital
  • Department of Pathology
  • Department of Pathology and Genetics
  • Department of Pediatrics
  • Dept. of Neurology

External person

Eswara, M.

  • Sutter Heart Institute

External person

Innes, A. Micheil

  • University of Calgary
  • Department of Medical Genetics
  • Department of Medical Genetics

External person

Fairley, C.

  • Children's Memorial Hospital
  • Chicago Center for Jewish Genetic Disorders
  • Bone Marrow Transplant Program

External person

Méndez-Godoy, Alfonso

  • Universidad Nacional Autonoma de Mexico
  • Departamento de Química de Biomacromoléculas

External person

Arti Pandya

  • Virginia Commonwealth University
  • Department of Human and Molecular Genetics
  • Department of Human Genetics
  • Department of Pediatrics
  • Department of Human Genetics
  • Department of Human Genetics

External person

Perciliz L. Tan

  • Department of Cell Biology
  • Duke University
  • Department of Cell Biology
  • Johns Hopkins University
  • Center for Pediatric Surgical Clinical Trials and Outcomes Research
  • McKusick-Nathans Institute of Genetic Medicine
  • Department of Ophthalmology
  • Department of Cell Biology
  • Department of Pediatrics
  • School of Medicine
  • Department of Ophthalmology
  • McKusick-Nathans Institute of Genetic Medicine
  • Department of Pediatrics
  • Department of Ophthalmology
  • Rescindo Therapeutics

External person

Nobili, F.

  • Université de Franche-Comté

External person

Beitner-Johnson, Dana

  • Genzyme Corporation
  • Biomedical Data Sciences and Informatics

External person

Eden Haverfield

  • GeneDx
  • GeneDx
  • Department of Human Genetics
  • The University of Chicago
  • Department of Human Genetics
  • GeneDX Inc

External person

David J. Lockhart

  • Ambit Biosciences Corporation
  • TranscripTx
  • TranscripTx
  • OrPhi Therapeutics
  • TranscripTx
  • TranscripTx
  • TranscripTx
  • TranscripTx
  • TranscripTx
  • TranscripTx
  • TranscripTx
  • TranscripTx
  • TranscripTx
  • TranscripTx
  • TranscripTx
  • TranscripTx
  • TranscripTx
  • TranscripTx
  • TranscripTx
  • TranscripTx
  • TranscripTx
  • TranscripTx
  • TranscripTx
  • TranscripTx
  • TranscripTx
  • TranscripTx
  • TranscripTx
  • TranscripTx
  • TranscripTx
  • TranscripTx
  • TranscripTx
  • TranscripTx
  • TranscripTx
  • TranscripTx
  • TranscripTx
  • TranscripTx
  • TranscripTx
  • TranscripTx
  • TranscripTx
  • TranscripTx
  • TranscripTx
  • TranscripTx
  • TranscripTx
  • TranscripTx
  • TranscripTx
  • TranscripTx
  • TranscripTx
  • TranscripTx

External person

Sihoun Hahn

  • Mayo College of Medicine
  • Mayo Clinic Rochester, MN
  • Mayo Clinic College of Medicine
  • Department of Medical Genetics
  • Experimental Pathology and Laboratory Medicine
  • Department of Medical Genetics
  • Dept. of Pediat. and Adol. Medicine

External person

Vermeer, Sascha

  • University of Groningen
  • Department of Genetics

External person

Hilde Van Esch

  • KU Leuven
  • Center for Human Genetics
  • Center for Human Genetics
  • Centre for Human Genetics
  • KU Leuven
  • Center for Human Genetics

External person

Christie P. Thomas

  • University of Iowa
  • VA Medical Center
  • Graduate Program in Molecular and Cellular Biology
  • Department of General Internal Medicine
  • Departments of Pediatrics and Internal Medicine
  • Iowa Institute of Human Genetics

External person

Karin Oberndorff

  • Atrium-Orbis Medical Center
  • National Institutes of Health
  • Zuyderland Medical Center
  • Department of Pediatrics
  • Department of Pediatrics

External person

Starr, J.

  • University of California at Irvine

External person

Doris Taha

  • Cape Breton Regional Hospital

External person

Lose, Edward J.

  • University of Alabama at Birmingham
  • Department of Genetics

External person

Kenneth Ward

  • University of Hawaii at Mānoa
  • Children's Memorial Hospital
  • Department of Obstetrics
  • Division of Genetics

External person

Baralle, Diana

  • University of Southampton
  • Human Development and Health
  • Human Development and Health

External person

Kline, Antonie D.

  • Greater Baltimore Medical Center
  • Harvey Institute of Human Genetics
  • Harvey Institute for Human Genetics
  • Greater Baltimore Medical Center

External person

Timothy A. Sentongo

  • The University of Chicago
  • Children's Memorial Hospital
  • Northwestern University
  • Department of Pediatrics
  • Department of Pediatrics
  • Dept. Gastroenterol. Hepatol./Nutr.
  • Division of Gastroenterology, Hepatology and Nutrition
  • Division of Gastroenterology
  • Department of Pediatric Nutrition Support, GI, Hepatology and Nutrition
  • Children’s Hospital
  • Department of Pediatrics
  • Department of Pediatric Nutrition Support, GI, Hepatology and Nutrition
  • Division of Gastroenterology, Hepatology and Nutrition

External person

Sánchez-Puig, Nuria

  • Universidad Nacional Autonoma de Mexico
  • Departamento de Química de Biomacromoléculas

External person

Francois Labarthe

  • Université de Tours

External person

Marie T. Mcdonald

  • Duke University
  • Division of Medical Genetics
  • Department of Pediatrics
  • Division of Medical Genetics
  • Department of Pediatrics

External person

Mehta, Sarju

  • Addenbrooke's Hospital
  • Department of Medical Genetics
  • East Anglian Regional Genetics Service

External person

McCarthy, John

  • Institute of Human Genetics
  • University of Cologne

External person

Deborah Marsden

  • Harvard University
  • Ultragenyx Pharmaceutical Inc.

External person

Jose E. Abdenur

  • University of California at Irvine

External person

Virginia Baldwin

  • Shinshu University
  • Johns Hopkins University
  • University of British Columbia
  • Children's Memorial Hospital
  • Northwestern University
  • Department of Biochemistry
  • The Kennedy Institute
  • Department of Pediatrics
  • Division of Genetics
  • Bone Marrow Transplant Program
  • Department of Neurology
  • Department of Pathology and Genetics
  • British Columbia Children's Hospital
  • Department of Pathology and Genetics
  • Department of Pediatrics
  • Dept. of Neurology

External person

Gu, Xuefan

  • Shanghai Jiao Tong University

External person

Michael Petros

  • University of Illinois at Chicago
  • School of Public Health

External person

Abhishek Mukhopadhyay

  • The University of Chicago
  • Northwestern University
  • Harvard University
  • Department of Neurology
  • Department of Neurology
  • Department of Neurology
  • Department of Genetics
  • Department of Neurology
  • NW Univ.'s Feinberg Sch. of Medicine

External person

K. E. Ormond

  • Northwestern University
  • Stanford University
  • The University of Chicago
  • Center for Genetic Medicine and Graduate Program in Genetic Counseling
  • Division of Hematology/Oncology
  • Dept. of Obstetrics and Gynecology
  • Dept. of Medicine
  • Center for Genetic Medicine
  • Department of Genetics
  • Department of Genetics and Stanford Center for Biomedical Ethics
  • Department of Medicine
  • Department of Obstetrics/Gynecology
  • Department of Obstetrics and Gynecology

External person

Myers, Angela

  • Sanford Children's Specialty Clinic

External person

Jennifer A. Sullivan

  • Duke University
  • National Institutes of Health
  • Room 237
  • Department of Pediatrics
  • Department of Pediatrics

External person

Corrado Romano

  • IRCCS Associazione Oasi Maria Santissima
  • IRCCS Oasi Maria SS. - Troina (EN)
  • Pediatrics and Medical Genetics

External person

Spigelman, Zachary

  • Parker Hill Oncology and Hematology

External person

Sophia Khan

  • Northwestern University
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Pediatrics

External person

John Curran

  • Children's Memorial Hospital
  • Northwestern University
  • University of California at Los Angeles
  • Department of Medical Imaging
  • Department of Medical Imaging
  • Division of Neuroradiology
  • Department of Pediatrics
  • Children's Memorial Medical Center
  • Department of Pediatrics
  • Pediatric Radiology
  • Feinberg School of Medicine

External person

Richard Dineen

  • University of Illinois at Chicago
  • Department of Pediatrics

External person

M. Bonnaure-Mallet

  • Université européenne de Bretagne

External person

Edward H. Bossen

  • Duke University
  • Room 237

External person

Smeets, Eric

  • Maastricht University
  • Department of Clinical Genetics
  • Department of Clinical Genetics

External person

Laney, Dawn A.

  • Emory University
  • Department of Human Genetics

External person

J. M. Friedman

  • Shinshu University
  • University of British Columbia
  • Northwestern University
  • Johns Hopkins University
  • Children's Memorial Hospital

External person

Marcy C. Speer

  • Duke University
  • Department of Genetics, Hospital for Sick Children
  • University of Cape Town
  • Center for Human Genetics
  • Division of Neurology
  • Divisions of Cardiol. and Nephrology
  • Center for Human Genetics
  • Center for Human Genetics
  • Division of Gastroenterology
  • Division of Neurology
  • Center for Human Genetics
  • Division of Neurology
  • Divisions of Cardiol. and Nephrology
  • University of Toronto
  • The Joseph and Kathleen Bryan Alzheimer's Disease Research Center

External person

Barlow, C.

  • University of Michigan, Ann Arbor
  • Salk Institute for Biological Studies
  • The Parkinson's Institute

External person

A. H. Olney

  • University of Nebraska Medical Center
  • Department of Pediatrics

External person

Craig, David W.

  • Translational Genomics Research Institute

External person

Henderson, Alex

  • Newcastle upon Tyne Hospitals NHS Foundation Trust
  • Newcastle University
  • Northern Genetics Service
  • Northern Regional Genetics Service

External person

Raymond A. Wang

  • University of California at Irvine

External person

Anna Buck

  • Hannover Medical School

External person

Mary Theroux

  • Alfred I. duPont Hospital for Children
  • Department of Anesthesiology and Critical Care
  • Thomas Jefferson University

External person

Vreeburg, Maaike

  • Maastricht UMC+
  • Maastricht University
  • Department of Clinical Genetics

External person

Feldt-Rasmussen, U.

  • University of Copenhagen
  • Department of Medical Endocrinology

External person

Keep, Rosanne

  • Abington Reproductive Medicine

External person

Chacón-Flores, Montserrat

  • Universidad Nacional Autonoma de Mexico
  • Departamento de Química de Biomacromoléculas

External person

Diaz, G. A.

  • Icahn School of Medicine at Mount Sinai

External person

Yves Lacassie

  • Louisiana State University Health Sciences Center
  • Children's Hospital of New Orleans
  • Children’s Hospital New Orleans

External person

Alison McVie-Wylie

  • Duke University
  • Room 237

External person

Barnett, Rebecca

  • Illinois Department of Public Health

External person

Reijnders, Margot R F

  • Radboud University Nijmegen
  • Donders Institute for Brain
  • Department of Human Genetics
  • Department of Clinical Genetics
  • Maastricht University

External person

John P. Clancy

  • Cincinnati Children's Hospital Medical Center
  • University of Alabama at Birmingham
  • University of Cincinnati
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Pediatrics
  • Loyola University Chicago
  • Dept. Cell Biol.
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Pediatrics

External person

Kimberly Thormann

  • Children's Memorial Hospital
  • Northwestern University
  • Division of Hematology/Oncology/Stem Cell Transplantation
  • Robert H. Lurie Comprehensive Cancer Center
  • Bone Marrow Transplant Program
  • Department of Pediatrics
  • Division of Hematology
  • Robert H. Lurie Comprehensive Cancer Center of Northwestern University
  • Robert H. Lurie Compreh. Cancer Ctr.

External person

Anu Cherukuri

  • BioMarin Pharmaceutical Inc.

External person

Mark Joseph

  • Phoenix Children's Hospital
  • Department of Pediatric Nephrology
  • Phoenix Children’s Hospital

External person

M. Gendronneau

  • Université européenne de Bretagne

External person

Nilanjana Majumder

  • University of Pittsburgh

External person

Breunig, F.

  • University of Würzburg

External person

Snijders Blok, Lot

  • Radboud University Nijmegen
  • Department of Human Genetics

External person

A. Tuffaha

  • University of Kansas
  • Department of Urology

External person

Roscioli, Tony

  • Genome. One
  • University of New South Wales
  • School of Women's and Children's Health
  • Department of Clinical Genetics
  • Sydney Children's Hospital
  • Centre for Clinical Genetics
  • Prince of Wales Clinical School

External person

Kevin A. Strauss

  • Marshall University
  • Clinic for Special Children
  • Clinic for Special Children
  • Franklin and Marshall College, Lancaster
  • Clinic for Special Children

External person

Amaka C. Offiah

  • Sheffield Children's Hospital
  • Sheffield Children's NHS Foundation Trust
  • University of Sheffield
  • Department of Radiology
  • Academic Unit of Child Health
  • Academic Unit of Child Health
  • Paediatric Musculoskeletal Imaging
  • Sheffield Children’s NHS Foundation Trust
  • Christie NHS Foundation Trust
  • Academic Unit of Child Health

External person

Polina Stepensky

  • Hebrew University of Jerusalem
  • Hadassah University Medical Centre
  • Departments of Pediatric Hematology-Oncology
  • Departments of Bone Marrow Transplantation and Cardiology
  • Department of Pediatric Hematology
  • Pediatric Hematology/Oncology Department

External person

H. Amartino

  • Hospital Aleman
  • Hospital Universitario Austral
  • Department of Pediatrics
  • Department of Child Neurology
  • Universidad Austral
  • Child Neurology Department
  • Hospital Alemán

External person

K. A. Dehaai

  • University of Nebraska Medical Center
  • Department of Pediatrics

External person

Feliciani, C.

  • University of Parma
  • Dermatology Unit

External person

Tjitske Kleefstra

  • Radboud University Nijmegen
  • Donders Institute for Brain
  • Department of Human Genetics

External person

Amendola, Michael

  • Department of Human Genetics
  • Virginia Commonwealth University

External person

Clarke, Joe T R

  • University of Toronto
  • Division of Clinical and Metabolic Genetics

External person

Lewis C. Strauss

  • The University of Chicago
  • Bristol-Myers Squibb
  • Johns Hopkins University
  • Division of Hematology and Oncology
  • Department of Pathology

External person

Kala Jayaram

  • BioMarin Pharmaceutical Inc.

External person

McCracken, E.

  • University of Pittsburgh

External person

Wang, R.

  • University of California at Irvine

External person

Robert S. Pynoos

  • City University of New York
  • Duke University
  • National Center for Child Traumatic Stress

External person

Stuti Das

  • Duke University
  • Department of Pediatrics
  • Department of Pediatrics

External person

Wissink-Lindhout, Willemijn

  • Radboud University Nijmegen
  • Department of Human Genetics

External person

Elizabeth Ulm

  • Cincinnati Children's Hospital Medical Center
  • Northwestern University
  • Center for Genetic Medicine

External person

Tinkle, Brad

  • Advocate Children's Hospital
  • Department of Genetics

External person

Sharif, S.

  • Imperial College London
  • Department of Medical Genetics
  • Imperial College Healthcare NHS Trust

External person

Abuzaitoun, Omar

  • Palestinian Authority
  • Palestinian Authority
  • Nablus Speciality Hospital

External person

Valerie Cormier-Daire

  • Université Paris 5
  • Département de Génétique
  • APHP
  • CNRS & Université Paris Descartes
  • Paris Descartes-Sorbonne Paris Cite University

External person

Coppinger, Justine

  • Signature Genomic Laboratories
  • Spokane

External person

Amichay Rotstein

  • Tel Aviv University
  • Schneider Childrens Medical Center Israel
  • Division of Pediatric Cardiology

External person

Phillips, Dawn

  • Genzyme Corporation

External person

Conway, R.

  • Children's Hospital of Michigan

External person

Lawrence Shoemaker

  • University of Louisville
  • Department of Pediatrics

External person

Rajeshree Govender

  • Department of Pediatrics and Child Health
  • University of KwaZulu-Natal

External person

Ans T. Van der Ploeg

  • Erasmus University Rotterdam
  • Erasmus MC – Sophia Children's Hospital
  • Department of Pediatrics
  • Centre for Lysosomal and Metabolic Diseases

External person

Eddin, Adeeb Naser

  • Hebrew University of Jerusalem
  • Department of Pediatric Hematology

External person

Bultas, Jan

  • Charles University
  • Second Department of Medicine

External person

Smiegel, Robert

  • Department of Social Pediatrics
  • Wrocław Medical University

External person

Norman, Jennifer

  • Integris Pediatric Neurology

External person

Renato Skerlj

  • Lysosomal Therapeutics Inc.

External person

Zhang, Lin

  • Bristol-Myers Squibb
  • Genzyme Corporation
  • University of Pittsburgh

External person

J. Spranger

  • Johannes Gutenberg University Mainz
  • Mayo Clinic Rochester, MN
  • Universitätskinderklinik
  • International Skeletal Dysplasia Reg
  • Department of Laboratory Medicine and Pathology
  • Children's Hospital
  • Universität Mainz

External person

Usha Kini

  • University of Oxford
  • Department of Clinical Genetics
  • Churchill Hospital

External person

Rump, Andreas

  • Technische Universität Dresden
  • Faculty of Medicine
  • Institute for Clinical Genetics

External person

Christian P. Schaaf

  • Center for Rare Diseases
  • Baylor College of Medicine
  • Institute of Human Genetics
  • Department of Molecular and Human Genetics
  • Center for Molecular Medicine
  • University of Cologne

External person

F. Johnson

  • Amicus Therapeutics, Inc.

External person

Pastores, Gregory M.

  • University College Dublin

External person

Spencer, Andrew

  • Jacobi Medical Center
  • Human Genetics Laboratory
  • Jacobi Medical Center

External person

Michael Schwake

  • Northwestern University
  • Bielefeld University
  • Kiel University
  • Biochemical Institute
  • Faculty of Chemistry/Biochemistry III
  • The Ken and Ruth Davee Department of Neurology
  • Department of Neurology
  • Department of Neurology
  • Department of Neurology
  • Biochemical Institute
  • Biochemie III
  • Department of Neurology
  • Department of Neurology

External person

Miao He

  • University of Pittsburgh

External person

Bienek, Melanie

  • Max Planck Institute for Molecular Genetics
  • Department of Human Genetics

External person

Jacqueline Wolak

  • Children's Memorial Hospital

External person

Erik Madsen

  • Duke University
  • Department of Cell Biology
  • Department of Cell Biology

External person

Ilkka Kantola

  • University of Turku
  • Department of Medicine

External person

Nakagawa, Sachiko

  • Jacobi Medical Center
  • Human Genetics Laboratory
  • Jacobi Medical Center

External person

Pires, Ricardo

  • Universidade Federal do Rio Grande do Sul
  • Servico de Genetica Medica

External person

Jonathan Remis

  • Northwestern University
  • Department of Molecular Biosciences
  • Departments of Molecular Biosciences and of Chemistry

External person

Solano, Martha L.

  • Universidad del Rosario
  • Department of Neuropediatrics

External person

Julie F. Stewart

  • Northwestern University
  • Department of Molecular Pharmacology and Biological Chemistry
  • Dept. of Molecular Pharmacology and Biological Chemistry

External person

Alan Fryer

  • Liverpool Women's Hospital
  • Department of Clinical Genetics
  • Liverpool Women's NHS Foundation Trust

External person

Donald Gribetz

  • City University of New York
  • Department of Pediatrics

External person

D. O. Sillence

  • Westmead Hospital
  • Johannes Gutenberg University Mainz
  • University of Sydney
  • Royal Children's Hospital
  • International Skeletal Dysplasia Reg
  • Department of Pediatrics
  • Department of Genetic Medicine

External person

Darrell Waggoner

  • The University of Chicago
  • Department of Pediatrics

External person

Nan Wang

  • Biostatistics and Statistical Programming Department, Shire
  • Shire
  • Biostatistics and Statistical Programming Department, Shire
  • Biostatistics and Statistical Programming Department, Shire
  • Biostatistics and Statistical Programming Department, Shire
  • Biostatistics and Statistical Programming Department, Shire
  • Biostatistics and Statistical Programming Department, Shire
  • Biostatistics and Statistical Programming Department, Shire
  • Biostatistics and Statistical Programming Department, Shire
  • Biostatistics and Statistical Programming Department, Shire
  • Biostatistics and Statistical Programming Department, Shire
  • Biostatistics and Statistical Programming Department, Shire
  • Biostatistics and Statistical Programming Department, Shire
  • Biostatistics and Statistical Programming Department, Shire
  • Biostatistics and Statistical Programming Department, Shire
  • Biostatistics and Statistical Programming Department, Shire
  • Biostatistics and Statistical Programming Department, Shire
  • Biostatistics and Statistical Programming Department, Shire
  • Biostatistics and Statistical Programming Department, Shire
  • Biostatistics and Statistical Programming Department, Shire
  • Biostatistics and Statistical Programming Department, Shire
  • Biostatistics and Statistical Programming Department, Shire
  • Biostatistics and Statistical Programming Department, Shire
  • Biostatistics and Statistical Programming Department, Shire
  • Biostatistics and Statistical Programming Department, Shire
  • Biostatistics and Statistical Programming Department, Shire
  • Biostatistics and Statistical Programming Department, Shire
  • Biostatistics and Statistical Programming Department, Shire
  • Biostatistics and Statistical Programming Department, Shire
  • Biostatistics and Statistical Programming Department, Shire
  • Biostatistics and Statistical Programming Department, Shire
  • Biostatistics and Statistical Programming Department, Shire
  • Biostatistics and Statistical Programming Department, Shire
  • Biostatistics and Statistical Programming Department, Shire
  • Biostatistics and Statistical Programming Department, Shire
  • Biostatistics and Statistical Programming Department, Shire
  • Biostatistics and Statistical Programming Department, Shire
  • Biostatistics and Statistical Programming Department, Shire
  • Biostatistics and Statistical Programming Department, Shire
  • Biostatistics and Statistical Programming Department, Shire
  • Shire
  • Biostatistics and Statistical Programming Department

External person

Justin G. Weinkauf

  • University of Alberta
  • Department of Medicine

External person

Catherine W. Rehder

  • Duke University
  • Clinical Molecular Diagnostic Laboratories

External person

Kirk Aleck

  • St. Joseph's Hospital and Medical Center
  • University of Pennsylvania
  • University of Arizona
  • Depts. of Pediatrics and Genet.
  • Phoenix Children's Hospital
  • Phoenix Children’s Hospital

External person

G. Bradley Schaefer

  • University of Arkansas for Medical Sciences
  • Duke University
  • Division of Medical Genetics
  • Division of Medical Genetics

External person

Evan E. Eichler

  • University of Washington
  • Howard Hughes Medical Institute
  • Division of Medical Genetics
  • University of Washington

External person

Dizikes, George

  • Tennessee Department of Health
  • Illinois Department of Public Health

External person

R. K. Azzam

  • Children's Memorial Hospital
  • The University of Chicago
  • Northwestern University
  • Department of Pediatrics
  • Division of Gastroenterology
  • Department of Pediatric Nutrition Support, GI, Hepatology and Nutrition
  • Department of Pediatrics
  • Department of Pediatric Nutrition Support, GI, Hepatology and Nutrition

External person

J. Ross

  • University of Rochester
  • Northwestern University
  • Department of Neurology
  • Department of Pediatrics
  • Department of Pediatrics

External person

Baradaran-Heravi, A.

  • University of British Columbia
  • Rare Disease Foundation
  • Department of Medical Genetics
  • Department of Medical Genetics
  • Child and Family Research Institute, Canada

External person

Giese, Sharon

  • Children's Memorial Hospital
  • Division of Plastic Surgery

External person

Julie Fleischer

  • Southern Illinois University
  • Department of Pediatrics

External person

Thomas Loew

  • University of Iowa

External person

Vaughn, Daleik

  • Virginia Commonwealth University
  • Department of Human Genetics

External person

Hugo W. Moser

  • Shinshu University
  • Johns Hopkins University
  • University of British Columbia
  • Children's Memorial Hospital
  • Northwestern University
  • Oncology Center's
  • Kennedy Krieger Institute
  • Oncology Center
  • Department of Neurology
  • Oncology Center's
  • Department of Biochemistry
  • The Kennedy Institute
  • Department of Pediatrics
  • Division of Genetics
  • Bone Marrow Transplant Program
  • Department of Neurology
  • Department of Pathology and Genetics
  • British Columbia Children's Hospital
  • Department of Pathology and Genetics
  • Department of Pediatrics
  • Dept. of Neurology

External person

N. Skuban

  • Amicus Therapeutics, Inc.

External person

Jackson, Leslie L.

  • University of Alabama at Birmingham
  • Cardiology Division

External person

U. Sharaf El Din

  • Cairo University

External person

Allison King

  • Washington University St. Louis
  • Siteman Cancer Center, Barnes-Jewish Hospital, Washington University School of Medicine
  • Department of Pediatrics
  • Program in Occupational Therapy and Department of Pediatrics Hematology Oncology
  • Program in Occupational Therapy
  • University of Washington
  • Siteman Cancer Center
  • Div. of Pediat. Hematol. and Oncol.

External person

Manara, Renzo

  • University of Salerno
  • Neuroradiology

External person

Barto, Heath

  • Children's Memorial Hospital
  • Division of Ophthalmology

External person

François Nobili

  • Hôpital Saint Jacques
  • Université de Franche-Comté
  • Service de Pédiatrie
  • Service de Néphrologie Pédiatrique

External person

Lisa G. Shaffer

  • Washington State University Spokane
  • PerkinElmer, Inc.
  • Genetic Veterinary Sciences, Inc.
  • Inc.
  • Signature Genomic Laboratories
  • Signature Genomic Laboratories, LLC
  • Spokane
  • Signature Genomic Laboratories
  • Signature Genomic Laboratories
  • Division of Cytogenetics
  • Hlth.

External person

Paula R. Clemens

  • VA Medical Center
  • University of Pittsburgh
  • Neurology Service
  • Neurology Service
  • Department of Neurology
  • Tel Aviv University
  • Departments of Neurology

External person

W. K. Chung

  • Columbia University
  • Department of Pediatrics
  • College of Physicians and Surgeons
  • Departments of Pediatrics and Medicine
  • Departments of Pediatrics and Medicine
  • Division of Molecular Genetics
  • Department of Medicine
  • Department of Pediatrics
  • Spinal Muscular Atrophy Foundation
  • Department of Pediatrics
  • New York University
  • Department of Medicine

External person

Joe Sullivan

  • Northwestern University

External person

Paul A. Watkins

  • Shinshu University
  • Johns Hopkins University
  • University of British Columbia
  • Children's Memorial Hospital
  • Northwestern University
  • Department of Biochemistry
  • The Kennedy Institute
  • Department of Pediatrics
  • Division of Genetics
  • Bone Marrow Transplant Program
  • Department of Neurology
  • Department of Pathology and Genetics
  • British Columbia Children's Hospital
  • Department of Pathology and Genetics
  • Department of Pediatrics
  • Dept. of Neurology

External person

Bregje W M Van Bon

  • Radboud University Nijmegen
  • University of Adelaide
  • SA Pathology
  • SA Pathology
  • Department of Human Genetics
  • School of Paediatrics and Reproductive Health
  • Department of Human Genetics
  • Donders Institute for Brain

External person

Han Brunner

  • Radboud University Nijmegen
  • Maastricht UMC+
  • Maastricht University
  • Department of Human Genetics
  • Department of Clinical Genetics
  • Department of Human Genetics

External person

Megan Rech

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

External person

Petra Lamfers

  • Mercy Pediatrics and Adolescent Clinic

External person

Russell E. Ware

  • Cincinnati Children's Hospital Medical Center
  • University of Pennsylvania
  • Baylor College of Medicine
  • Duke University
  • Room 237
  • Department of Pediatrics
  • Division of Hematology

External person

Susan Gross

  • University of Tennessee Health Science Center
  • Yeshiva University
  • Jacobi Medical Center
  • Department of Obstetrics and Gynecology
  • Division of Reproductive Genetics
  • Human Genetics Laboratory
  • Department of Obstetrics and Gynecology
  • Department of Obstetrics
  • Departments of Obstetrics
  • Jacobi Medical Center

External person

Estelle Colin

  • Université d'Angers
  • Department of Biochemistry and Genetics
  • Département de Biochimie et Génétique

External person

R. J. Barohn

  • University of Texas Health Science Center at San Antonio
  • University of Texas Southwestern Medical Center
  • University of Kansas
  • Children's Hospital Medical Center
  • University of Texas at San Antonio
  • Department of Neurology
  • Department of Pathology/Neuropathology
  • Department of Neurology
  • Department of Medicine
  • University of Kansas
  • Kansas University
  • Kansas University
  • Akron Children's Hospital

External person

Michael J. Parker

  • Sheffield Children's Hospital
  • Sheffield Clinical Genetics Service
  • Sheffield Children's NHS Foundation Trust

External person

Wendy Smith

  • Maine Medical Center
  • Duke University
  • American College of Medical Genetics

External person

Walter E. Nance

  • Virginia Commonwealth University
  • Louisiana State University Health Sciences Center
  • Bureau of Microbiological Science
  • Louisiana State University
  • Department of Human Genetics
  • Department of Pediatrics
  • Department of Biometry and Genetics
  • Bureau of Maternal and Child Health
  • Department of General Services
  • Biometry/Genetics Department
  • Department of Human Genetics
  • Department of Human Genetics
  • Department of Human Genetics
  • Departments of Human Genetics and Pediatrics
  • Department of Pediatrics
  • Bureau of Maternal and Child Health
  • Louisiana State University

External person

R. S. Finkel

  • University of Colorado Denver
  • University of Pennsylvania
  • Nemours
  • Nemours Children's Clinic
  • University of Central Florida
  • Division of Neurology
  • Department of Neurology and Pediatrics
  • Depts. of Pediatrics and Neurology
  • Department of Neurology
  • Department of Pediatrics
  • The Pediatric Neuromuscular Clinical Research Network
  • Departments of Neurology and Pediatrics
  • Tel Aviv University
  • University of Central Florida College of Medicine
  • St. Jude Children Research Hospital

External person

Pamela H. Nguyen

  • Children's Memorial Hospital
  • Northwestern University
  • Feinberg School of Medicine
  • Department of Pediatrics
  • Department of Neuroradiology
  • Department of Radiology
  • Department of Pediatrics

External person

Hoover-fong, Julie

  • Johns Hopkins University

External person

Marvin Natowicz

  • Cleveland Clinic Foundation
  • Pathology and Laboratory Medicine
  • Institutes of Pathology
  • Institutes of Genomic Medicine and Pathology

External person

Michael Mrosek

  • Proteros Biostructures GmbH
  • Proteros Biostructures GmbH
  • Proteros Biostructures GmbH

External person

Racher, Hilary

  • University of Calgary
  • Department of Medical Genetics

External person

Jay M. Pensler

  • Imperial College London
  • Children's Memorial Hospital
  • University of Louisville
  • University of Illinois at Chicago
  • Northwestern University
  • Division of Plastic Surgery
  • Division of Plastic Surgery
  • Divisions Plast. Surg. Neurosurg.
  • Division of Plastic Surgery
  • Department of Dermatology
  • Department of Surgery
  • Department of Surgery
  • Dermatology Department
  • Surgical Outcomes and Quality Improvement Center (SOQIC)
  • Division of Plastic Surgery and Mineral Metabolism Laboratory
  • Depts. of Radiol. and Plast. Surgery
  • Department of Dermatology
  • Department of Pediatrics
  • Div. Plast.
  • Imperial College Healthcare NHS Trust

External person

Heisel-Kurth, Margaret

  • Children's Hospital of Minnesota

External person

Michael C. Kruer

  • Sanford Children's Health Research Center
  • University of Arizona
  • Sanford Children's Specialty Clinic
  • Phoenix Children's Hospital
  • Sanford Children's Specialty Clinic
  • Department of Child Health
  • Pediatrics and Neurosciences
  • University of South Dakota
  • Department of Child Health
  • Phoenix Children’s Hospital
  • Department of Neurology

External person

Van gassen, Koen L.I.

  • Utrecht University
  • Department of Medical Genetics

External person

Matsuoka, Rumiko

  • Heart Institute of Japan
  • Tokyo Women's Medical University
  • Department of Pediatric Cardiology

External person

Manor, O.

  • University of Pennsylvania

External person

Shuen, C.

  • University of British Columbia
  • Rare Disease Foundation
  • Department of Medical Genetics
  • Department of Medical Genetics
  • Child and Family Research Institute, Canada

External person

Michael L. West

  • Dalhousie University
  • Division of Cardiology

External person

Katherine B. Sims

  • Harvard University
  • Department of Neurology

External person

Pamela Smith

  • Illinois Department of Public Health

External person

Orly Elpeleg

  • Hadassah University Medical Centre
  • Monique and Jacques Roboh Department of Genetic Research
  • Hebrew University of Jerusalem

External person

Juan Politei

  • Fundacion Para el Estudio de Enfermedades Neurometabolicas (FESEN)
  • Department of Neurology

External person

Rachel Hickey

  • Children's Memorial Hospital
  • Bone Marrow Transplant Program

External person

Torra, R.

  • Autonomous University of Barcelona

External person

P. Rinaldo

  • Children's Memorial Hospital
  • Mayo College of Medicine
  • Mayo Clinic Rochester, MN
  • McGill University
  • Mayo Clinic College of Medicine
  • Department of Medical Genetics
  • Department of Laboratory Medicine and Pathology
  • Dept. of Pediat. and Adol. Medicine
  • Department of Medicine

External person

Sonia S. Maruti

  • Genzyme Corporation

External person

Dietrich A. Stephan

  • Translational Genomics Research Institute
  • Children's Memorial Hospital
  • National Institutes of Health
  • Neurogenomics Division
  • Cancer Genetics Branch
  • Cancer Genetics Branch
  • Division of Immunology

External person

Ming Liang Chan

  • BioMarin Pharmaceutical Inc.

External person

Ravi Savarirayan

  • University of Melbourne

External person

Connie Stumpel

  • Maastricht UMC+
  • Maastricht University
  • National Institutes of Health
  • Department of Clinical Genetics
  • Department of Clinical Genetics and School for Oncology & Developmental Biology

External person

Aishwarya Arjunan

  • Children's Memorial Hospital
  • Chicago Center for Jewish Genetic Disorders
  • Division of Genetics

External person

Katherine M. Christensen

  • Saint Louis University
  • Cardinal Glennon Children's Medical Center
  • SSM Health Cardinal Glennon Children's Medical Center
  • Department of Pediatrics
  • University of Louisville

External person

Helsmoortel, Céline

  • University of Antwerp
  • Department of Medical Genetics

External person

Lebow, Johannah

  • Yeshiva University
  • Genetics Division

External person

Carlos A. Bacino

  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • Departments of Molecular and Human Genetics
  • Department of Pediatrics
  • Department of Molecular and Human Genetics
  • Baylor Genetics
  • Baylor Miraca Genetics Laboratories, LLC
  • Baylor Genetics, LLC

External person

Joyce Fox

  • Children's Medical Center
  • Steven and Alexandra Cohen Children's Medical Center of New York
  • Division of Medical Genetics
  • Division of Medical Genetics
  • Hillcrest HealthCare System
  • Cohen Children's Medical Center

External person

Janneke Schuurs-Hoeijmakers

  • Radboud University Nijmegen
  • Department of Human Genetics
  • Donders Institute for Brain

External person

Silvia Tortorelli

  • Mayo Clinic Rochester, MN
  • Experimental Pathology and Laboratory Medicine
  • Department of Medical Genetics

External person

Cara L. Mack

  • University of Colorado Denver
  • Children's Hospital Denver
  • Children's Memorial Hospital
  • Northwestern University
  • NW University Medical School
  • NW University Medical School
  • University of Colorado and Children's Hospital Colorado
  • University of Rochester
  • Department of Pediatrics
  • Bone Marrow Transplant Program
  • Surgical Outcomes and Quality Improvement Center (SOQIC)
  • Department of Surgery
  • Departments of Surgery and Pediatrics
  • Siragusa Transplantation Center
  • Digestive Health Institute
  • Department of Surgery
  • Section of Pediatric Gastroenterology, Hepatology and Nutrition
  • Division of Pediatric Gastroenterology, Hepatology and Nutrition
  • Dept. Gastroenterol. Hepatol./Nutr.
  • Department of Pediatrics
  • Provost's Office
  • Immunol./Interdepartmental I.

External person

Rolph Pfundt

  • Radboud University Nijmegen
  • Department of Human Genetics
  • Department of Human Genetics
  • Donders Institute for Brain

External person

J. Kirk

  • Amicus Therapeutics, Inc.

External person

Philip J. Lupo

  • Baylor College of Medicine
  • Renal Section

External person

Stephan Krapp

  • Proteros Biostructures GmbH
  • Proteros Biostructures GmbH
  • Proteros Biostructures GmbH

External person

Sigrid Hoefler

  • Shinshu University
  • Johns Hopkins University
  • University of British Columbia
  • Children's Memorial Hospital
  • Northwestern University
  • Department of Biochemistry
  • The Kennedy Institute
  • Department of Pediatrics
  • Division of Genetics
  • Bone Marrow Transplant Program
  • Department of Neurology
  • Department of Pathology and Genetics
  • British Columbia Children's Hospital
  • Department of Pathology and Genetics
  • Department of Pediatrics
  • Dept. of Neurology

External person

Adele Schneider

  • Yeshiva University
  • Einstein Medical Center
  • Genetics Division
  • Genetics Division

External person

Chester B. Whitley

  • University of Minnesota
  • Depts. of Hum. Genetics, N.
  • Gene Therapy Center
  • Department of Pediatrics

External person

Julian Raiman

  • University of Toronto
  • Birmingham Women's and Children's NHS Foundation Trust
  • Division of Clinical and Metabolic Genetics

External person

Raphael Schiffmann

  • Baylor University Medical Center at Dallas
  • National Institutes of Health
  • University of California at San Francisco
  • National Institute of Neurological Disorders and Stroke
  • Division of Pediatrics

External person

Casey, Robin

  • Alberta Children's Hospital

External person

Bautista-Santos, Arnulfo

  • Universidad Nacional Autonoma de Mexico
  • Departamento de Química de Biomacromoléculas

External person

J. Marietta Clewing

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

External person

Keating, Katherine

  • Children's Memorial Hospital
  • Division of Genetics

External person

Yagi, Hisato

  • Heart Institute of Japan

External person

Catharine Harris

  • University of Maryland, Baltimore
  • University of Illinois at Chicago

External person

Alan Pestronk

  • Washington University St. Louis
  • Johns Hopkins University
  • Department of Neurology
  • Department of Neurology
  • Department of Neurology
  • Department of Neurology
  • Department of Neurology
  • University of Washington
  • Department of Pathology and Immunology
  • Department of Neurology
  • School of Medicine

External person

Daniel Groepper

  • Southern Illinois University
  • Department of Pediatrics

External person

D. A. Wenger

  • Northwestern University
  • Thomas Jefferson University
  • University of Colorado Denver
  • Sidney Kimmel Medical Center
  • Provost's Office
  • Department of Medicine (Medical Genetics) and Biochemistry and Molecular Biology
  • Department of Medicine

External person

J. Barth

  • Amicus Therapeutics, Inc.
  • PTC Therapeutics
  • PTC Therapeutics

External person

Lane Rutledge

  • Johns Hopkins University
  • University of British Columbia
  • Children's Memorial Hospital
  • Northwestern University
  • Shinshu University
  • Department of Biochemistry
  • The Kennedy Institute
  • Department of Pediatrics
  • Division of Genetics
  • Bone Marrow Transplant Program
  • Department of Neurology
  • Department of Pathology and Genetics
  • British Columbia Children's Hospital
  • Department of Pathology and Genetics
  • Department of Pediatrics
  • Dept. of Neurology

External person

Peter Lansbury

  • Lysosomal Therapeutics Inc.

External person

Karlla W. Brigatti

  • Marshall University
  • Clinic for Special Children
  • Franklin and Marshall College, Lancaster
  • Clinic for Special Children

External person

Cynthia Tifft

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

External person

Fletcher, J.

  • Women's and Children's Hospital Adelaide

External person

Kunes, Yune

  • Bioanalytical and BioMarker Development, Shire
  • Bioanalytical and BioMarker Development, Shire
  • Bioanalytical and BioMarker Development, Shire
  • Bioanalytical and BioMarker Development, Shire
  • Bioanalytical and BioMarker Development, Shire
  • Bioanalytical and BioMarker Development, Shire
  • Bioanalytical and BioMarker Development, Shire
  • Bioanalytical and BioMarker Development, Shire
  • Bioanalytical and BioMarker Development, Shire
  • Bioanalytical and BioMarker Development, Shire
  • Bioanalytical and BioMarker Development, Shire
  • Bioanalytical and BioMarker Development, Shire
  • Bioanalytical and BioMarker Development, Shire
  • Bioanalytical and BioMarker Development, Shire
  • Bioanalytical and BioMarker Development, Shire
  • Bioanalytical and BioMarker Development, Shire
  • Bioanalytical and BioMarker Development, Shire
  • Bioanalytical and BioMarker Development, Shire
  • Bioanalytical and BioMarker Development, Shire
  • Bioanalytical and BioMarker Development, Shire
  • Bioanalytical and BioMarker Development, Shire
  • Bioanalytical and BioMarker Development, Shire
  • Bioanalytical and BioMarker Development, Shire
  • Bioanalytical and BioMarker Development, Shire
  • Bioanalytical and BioMarker Development, Shire
  • Bioanalytical and BioMarker Development, Shire
  • Bioanalytical and BioMarker Development, Shire
  • Bioanalytical and BioMarker Development, Shire
  • Bioanalytical and BioMarker Development, Shire
  • Bioanalytical and BioMarker Development, Shire
  • Bioanalytical and BioMarker Development, Shire
  • Bioanalytical and BioMarker Development, Shire
  • Bioanalytical and BioMarker Development, Shire
  • Bioanalytical and BioMarker Development, Shire
  • Bioanalytical and BioMarker Development, Shire
  • Bioanalytical and BioMarker Development, Shire
  • Bioanalytical and BioMarker Development, Shire
  • Bioanalytical and BioMarker Development, Shire
  • Bioanalytical and BioMarker Development, Shire
  • Bioanalytical and BioMarker Development
  • Shire

External person

Pranesh Chakraborty

  • University of Ottawa
  • Centre hospitalier pour enfants de l'est de l'Ontario
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Pediatrics
  • Newborn Screening Ontario

External person

Kimball, Amy

  • Greater Baltimore Medical Center
  • Harvey Institute for Human Genetics
  • Greater Baltimore Medical Center

External person

João P. Oliveira

  • University of Porto
  • Department of Genetics
  • I3S-Institute for Research and Innovation in Health
  • i3S-Instituto de Investigação e Inovação em Såude

External person

Joseph M. Majure

  • Duke University
  • Room 237

External person

Milena Brugnara

  • University of Verona
  • Department of Paediatrics

External person

Xue, Yong

  • Genzyme Corporation

External person

Kim Hanh Le Quan Sang

  • Université Paris 5
  • Paris Descartes-Sorbonne Paris Cite University

External person

Ruth C. Campbell

  • Medical University of South Carolina
  • Division of General Internal Medicine and Geriatrics

External person

Christoph Wanner

  • University of Würzburg
  • Department of Medicine
  • Division of Nephrology

External person

Robert J. Desnick

  • Icahn School of Medicine at Mount Sinai
  • Mt. Sinai School of Medicine
  • Department of Genetics and Genomic Sciences
  • Department of Pediatrics

External person

Khan, Aneal

  • Alberta Children's Hospital
  • University of Calgary
  • Department of Medical Genetics and Pediatrics

External person

Hoffman, Jodi

  • Tufts University

External person

Bratkovic, D.

  • Women's and Children's Hospital Adelaide
  • Metabolic Clinic

External person

Robert A. Palermo

  • Northwestern University
  • Division of Cardiology
  • Department of Pediatrics

External person

Gabor E. Linthorst

  • University of Amsterdam
  • Department of Endocrinology and Metabolism

External person

C. L. DeFranco

  • Wayne State University

External person

Wu, Yaoshi

  • Genzyme Corporation

External person

Anna Buck

  • Hannover Medical School

External person

Horatio Plotkin

  • University of Nebraska Medical Center
  • Genzyme Corporation
  • Children's Hospital

External person

Isabel Cordeiro

  • University of Lisbon
  • Serviço de Genética

External person

Amira Davis

  • Seattle Children's Hospital

External person

Litwack, Karen

  • Chicago Center for Jewish Genetic Disorders

External person

Bart L. Loeys

  • University of Antwerp
  • Ghent University
  • Department of Medical Genetics
  • Johns Hopkins University
  • McKusick-Nathans Institute of Genetic Medicine
  • GENOMED
  • Radboud University Nijmegen
  • Department of Human Genetics

External person

Uluc Yis

  • Dokuz Eylul University
  • Department of Pediatrics

External person

Jessica Giannelli

  • Children's Memorial Hospital

External person

Kunho Choi

  • University of British Columbia
  • Child and Family Research Institute, Canada
  • Department of Medical Genetics

External person

Kieran McHugh

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

External person

Eric Legius

  • KU Leuven
  • Department of Human Genetics
  • Laboratory for Molecular Oncology
  • Northwestern University
  • KU Leuven

External person

Li, Jing

  • Genzyme Corporation

External person

E. R. Benjamin

  • Amicus Therapeutics, Inc.

External person