Joel Charrow

  • 6567 Citations
1978 …2019
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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

Weinreb, Neal J.

  • 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

Kaplan, Paige

  • 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

Pastores, Gregory

  • 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

Scott, C. Ronald

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

External person

Rosenbloom, Barry E.

  • 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

Wappner, Rebecca S.

  • 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

Grabowski, G. A.

  • 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

External person

Wilcox, William R.

  • 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

Waldek, S.

  • 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

Germain, Dominique P.

  • 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

Kishnani, Priya

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

External person

Warnock, David G.

  • 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

External person

Gutmann, David H.

  • 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

Burrow, Thomas Andrew

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

External person

Hollak, Carla

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

External person

Greenwald, Mark J.

  • Children's Memorial Hospital
  • Children's Hospital and Regional Medical Center Seattle
  • 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

Vom Dahl, Stephan

  • University College London
  • University of Cologne
  • St. Franziskus-Hospital Koln
  • Metabolic Unit
  • Klinik für Innere Medizin

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

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

Wisch, J. S.

  • Partners HealthCare
  • University of Pennsylvania
  • Department of Hematology

External person

Longo, Nicola

  • 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

Hopkin, Robert J.

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

External person

Esplin, J.

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

External person

Esterly, Nancy Burton

  • 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

Banikazemi, Maryam

  • 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

Balwani, Manisha

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

External person

Balkin, Nancy

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

External person

Cohen, M. M.

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

External person

Harmatz, Paul

  • 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

Nye, Jeffrey S.

  • Pfizer
  • Johnson & Johnson
  • 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
  • Duke University Medical Center
  • Center for Human Genetics
  • Department of Pathology

External person

Cole, J. Alexander

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

External person

Massella, Laura

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

External person

Hendson, Glenda

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

External person

Angle, Brad

  • Michael Reese Hospital
  • Children's Memorial Hospital
  • University of Louisville
  • Northwestern University
  • University of Illinois at Chicago
  • Division of Genetics
  • Ann and Robert H. Lurie Children's Hospital of Chicago
  • Child Evaluation Center
  • Weisskopf Child Evaluation Center
  • Department of Pediatrics
  • Division of Emergency Medicine
  • Weisskopf Child Evaluation Center
  • Department of Pediatrics
  • Bone Marrow Transplant Program
  • Department of Pediatrics
  • Division of Genetics
  • Division of Genetics Birth Defects & Metabolism
  • Division of Genetics, Birth Defects and Metabolism
  • Department of Pediatrics
  • Department of Pediatrics
  • Chicago College of Medicine

External person

Gaemers, Sebastiaan J.M.

  • Genzyme Corporation

External person

Keller, Kory

  • 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

External person

Boerkoel, Cornelius F.

  • National Institutes of Health, Bethesda
  • 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

Vellodi, Ashok

  • 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

External person

Packman, Seymour

  • 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

Pena, Loren

  • University of Chicago
  • University of Illinois at Chicago
  • Northwestern University
  • National Institutes of Health, Bethesda
  • 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

Ferner, Rosalie E.

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

External person

Kishnani, Priya S.

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

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

Crombez, Eric A.

  • University of California at Los Angeles
  • Shire Human Genetic Therapies
  • 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

Morimoto, Marie

  • 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

Martins, Ana Maria

  • 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

External person

Bonneau, Dominique

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

External person

Bichet, D. G.

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

External person

Hughes, Derralynn A.

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

External person

Lukina, Elena

  • Hematology Research Center
  • Russian Academy of Medical Sciences

External person

Andria, Generoso

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

External person

Smith, Laurie

  • 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

Eng, Christine M.

  • Baylor College of Medicine
  • National Institutes of Health, Bethesda
  • 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

External person

Cabrera, Gustavo

  • Grupo Medico Del Viso
  • Centro Cardiovascular Bolivar

External person

Peterschmitt, M. Judith

  • Genzyme Corporation

External person

Tylki-Szymańska, Anna

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

External person

Zonana, Jonathan

  • 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

External person

Ardern-Holmes, Simone L.

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

External person

Stajić, Nataša

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

External person

Deschenes, Georges

  • Hôpital Robert Debré AP-HP
  • Département de Pédiatrie

External person

Guffon, Nathalie

  • 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

External person

Stein, Anja

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

External person

Wanner, Christoph

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

External person

Jovanovic, Ana

  • Christie NHS Foundation Trust
  • Department of Endocrinology and Metabolic Medicine
  • National Health Service

External person

Lee, Hak Myung

  • Wright State University
  • Shire
  • Department of Biomedical

External person

Dulisse, B.

  • RTI International
  • Genzyme Corporation

External person

Lemay, Roberta

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

External person

Parham, David M.

  • 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

Levtchenko, Elena

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

External person

Lewis, David B.

  • 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

External person

Fründ, Stefan

  • University of Münster
  • Department of General Pediatrics

External person

Ortiz, Alberto

  • 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

Bassuk, Alexander

  • 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

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

Finegold, David

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

External person

Patel, Trusha T.

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

External person

Freisens, Selena

  • Genzyme Corporation

External person

Bostwick, Bret

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

External person

Cahan, Frederick M.

  • 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

Dasouki, Majed

  • University of Kansas
  • Department of Urology

External person

Fernhoff, Paul

  • Emory University

External person

Rhead, William J.

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

External person

Cox, Timothy M.

  • University of Cambridge
  • Department of Medicine

External person

Patel, Zabin S.

  • Northwestern University
  • Department of Medical Social Sciences

External person

Hummel, Trent

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

External person

Bokenkamp, Arend

  • 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

Ullrich, Nicole J.

  • 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

Patel, Manesh R.

  • 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
  • Duke University Medical Center

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

Amalfitano, Andrea

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

External person

Hayes, Erin A.

  • 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

Kobelka, Christine

  • Kaiser Permanente
  • Kaiser Permanente
  • Genetics Department

External person

Hargrave, Darren R.

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

External person

Rosenbaum, Hanna

  • Rambam Health Care Campus Israel

External person

Mardach, Rebecca

  • 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

Hadjiev, Evgueniy

  • University Hospital Alexandrovska

External person

Phillips, John A.

  • VA Medical Center
  • Vanderbilt University
  • Duke University
  • National Institutes of Health, Bethesda
  • 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

Gormley, Andrew K.

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

External person

Desnick, Robert J.

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

External person

Mengel, Eugen

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

External person

Vockley, Jerry

  • 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

Morgan, Claire

  • Genzyme Corporation

External person

Petakov, Milan

  • University of Belgrade

External person

Tabori, Uri

  • 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

External person

Mehta, Atul B.

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

External person

Frange, Pierre

  • Université Paris 5
  • Pediatric Immunology and Hematology Unit

External person

Abiose, Ademola

  • North Ohio Heart Center

External person

El-Beshlawy, Amal

  • Pediatric Hematology
  • Cairo University

External person

Jalali, Ali

  • 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

McLeod, D. Ross

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

External person

Bogdanović, Radovan

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

External person

Mclone, David

  • Children's Memorial Hospital
  • Northwestern University
  • Ann and 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
  • Duke University Medical Center
  • 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

External person

Kirmani, Salman

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

External person

Hoffman, Robert O.

  • 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

Cochat, Pierre

  • 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

External person

Case, Laura E.

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

External person

Kim, Francine

  • 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

Rosenberg, Amy S.

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

External person

Campbell, Pauline E.

  • University College London
  • Plymouth Institute of Neuroscience

External person

Waldek, S.

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

External person

Harris, Chris M.

  • University College London
  • Plymouth Institute of Neuroscience

External person

Abichandani, R.

  • Genzyme Corporation
  • Shire

External person

Bilaniuk, Larissa T.

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

External person

Stenzel, Peter

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

External person

Baldellou, Antonio

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

External person

Cohen, Ian J.

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

External person

Mauer, Michael

  • University of Minnesota
  • Departments of Medicine and Pediatrics

External person

Semerci, C. Nur

  • Pamukkale University
  • Department of Medical Genetics

External person

Fenkçi, M. Semin

  • Cerrahi Hospital
  • Department of Internal Medicine

External person

Lücke, Thomas

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

External person

Packer, Roger J.

  • 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 Philadelsphia
  • 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
  • Duke University Medical Center

External person

Villalobos, Jacobo

  • Universidad Central de Venezuela

External person

Cox, Gerald F.

  • Editas
  • Genzyme Corporation
  • Editas Medicine

External person

Fisher, Michael J.

  • 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

Chen, Yuan Tsong

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

External person

Goker-Alpan, Ozlem

  • 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

External person

Fryssira, Helen

  • University of Athens
  • Athens University Medical School
  • Department of Medical Genetics
  • Department of Medical Genetics
  • Department of Medical Genetics

External person

Banugaria, Suhrad G.

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

External person

Milford, David V.

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

External person

Mackey, Joanne

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

External person

Balcer, Laura J.

  • 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

Linhart, Ales

  • Charles University
  • Department of Internal Medicine

External person

Bushinsky, David A.

  • Universidad Central de Venezuela
  • 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

External person

Najafian, Behzad

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

External person

Liu, Grant T.

  • 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
  • Scheie Eye Institute
  • Cole Eye Institute
  • Multiple Sclerosis Division
  • Alzheimer's Disease Center
  • Department of Ophthalmology
  • Wills Eye Hospital

External person

Nadler, H. L.

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

External person

Bouffet, Eric

  • 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

Silverman, B.

  • 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

External person

Kerstenetzky, Marcelo

  • Instituto de Medicina Integral Professor Fernando Figueira

External person

DeArmey, Stephanie M.

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

External person

Dragosky, Marta

  • IMAI-Research

External person

Ida, Hiroyuki

  • Jikei University
  • Department of Pediatrics

External person

Mayfield, Christy

  • Warren Clinic

External person

Asakura, Yumi

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

External person

Piersall, Linda

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

External person

Basiratnia, Mitra

  • Shiraz University of Medical Sciences
  • Department of Pediatric Nephrology

External person

Yu, Zhongxin

  • University of Oklahoma
  • Department of Pathology

External person

Robinow, M.

  • Children's Memorial Hospital
  • Division of Genetics

External person

Milleson, Christie

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

External person

Vasudevan, Pradeep

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

External person

Male, Alison

  • University College London
  • North East Thames Regional Genetics Service
  • Clinical Genetics Unit

External person

Skinner, Owen S.

  • 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

Sandu, Mariana

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

External person

Haan, E.

  • 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

External person

Gijsbers, Abril

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

External person

Lerut, Evelyne

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

External person

Hegwer, G.

  • 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

Bavdekar, Ashish

  • Emory University
  • Department of Ophthalmology

External person

Morse, Richard P.

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

External person

Veerling, Deborah L.

  • Duke University
  • Room 237

External person

Keppen, Laura Davis

  • Sanford Children's Specialty Clinic

External person

Fretzin, D. F.

  • Michael Reese Hospital
  • Children's Memorial Hospital
  • 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

Ben Yoseph, Y.

  • 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

Wand, Dorothea

  • Martin Luther University Halle-Wittenberg
  • Institut für Humangenetik

External person

Inui, K.

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

External person

Vedder, Anouk C.

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

External person

Kooy, R. Frank

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

External person

Batista, Julie L.

  • Genzyme Corporation

External person

D'Agostino McGowan, Lucy

  • Washington University St. Louis
  • Department of Neurology

External person

McCabe, E. R G

  • Children's Memorial Hospital

External person

Weidemann, Frank

  • University of Würzburg

External person

Bengur, A. Resai

  • Duke University
  • Room 237

External person

Hashimoto, T.

  • Cancer Research UK
  • 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

Pandya, Arti

  • 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

Tan, Perciliz L.

  • Department of Cell Biology
  • Duke University
  • Duke University Medical Center
  • 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

External person

Nobili, F.

  • Université de Franche-Comté

External person

Beitner-Johnson, Dana

  • Genzyme Corporation
  • Biomedical Data Sciences and Informatics

External person

Haverfield, Eden

  • GeneDx
  • GeneDx
  • Department of Human Genetics
  • University of Chicago
  • Department of Human Genetics

External person

Lockhart, David J.

  • Ambit Biosciences
  • 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

External person

Hahn, Sihoun

  • 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

Van Esch, Hilde

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

External person

Thomas, Christie P.

  • 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

Oberndorff, Karin

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

External person

Starr, J.

  • University of California at Irvine

External person

Taha, Doris

  • Cape Breton Regional Hospital

External person

Lose, Edward J.

  • University of Alabama at Birmingham
  • Department of Genetics

External person

Ward, Kenneth

  • 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

External person

Sentongo, Timothy A.

  • 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

Labarthe, Francois

  • Université de Tours

External person

Mcdonald, Marie T.

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

External person

Mehta, Sarju

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

External person

Majumder, Nilanjana

  • University of Pittsburgh

External person

McCarthy, John

  • Institute of Human Genetics
  • University of Cologne

External person

Marsden, Deborah

  • Harvard University
  • Ultragenyx Pharmaceutical Inc.
  • Ultragenyx Pharmaceutical Inc.

External person

Abdenur, Jose E.

  • University of California at Irvine

External person

Baldwin, Virginia

  • 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

Petros, Michael

  • University of Illinois at Chicago
  • School of Public Health

External person

Mukhopadhyay, Abhishek

  • 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

Ormond, K. E.

  • Northwestern University
  • Stanford University
  • 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

Sullivan, Jennifer A.

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

External person

Romano, Corrado

  • 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

Khan, Sophia

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

External person

Curran, John

  • 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

External person

Bonnaure-Mallet, M.

  • Université européenne de Bretagne

External person

Bossen, Edward H.

  • 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

Speer, Marcy C.

  • 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
  • Duke University Medical Center
  • 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

Olney, A. H.

  • 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

Buck, Anna

  • Hannover Medical School

External person

Theroux, Mary

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

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

Lacassie, Yves

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

External person

McVie-Wylie, Alison

  • 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

Clancy, John P.

  • Cincinnati Children's Hospital Medical Center
  • University of Alabama at Birmingham
  • University of Cincinnati
  • Department of Pediatrics
  • Department of Pediatrics
  • Cincinnati Children's Hopsital Medical Center
  • Department of Pediatrics
  • Department of Pediatrics
  • Cincinnati Children’s Hospital Medical Center
  • 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

Thormann, Kimberly

  • 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

External person

Cherukuri, Anu

  • BioMarin Pharmaceutical

External person

Joseph, Mark

  • Phoenix Children's Hospital
  • Department of Pediatric Nephrology

External person

Gendronneau, M.

  • Université européenne de Bretagne

External person

Breunig, F.

  • University of Würzburg

External person

Snijders Blok, Lot

  • Radboud University Nijmegen
  • Department of Human Genetics

External person

Tuffaha, A.

  • 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

Strauss, Kevin A.

  • Marshall University
  • Clinic for Special Children

External person

Offiah, Amaka C.

  • 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

External person

Stepensky, Polina

  • 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

Amartino, H.

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

External person

Dehaai, K. A.

  • University of Nebraska Medical Center
  • Department of Pediatrics

External person

Feliciani, C.

  • University of Parma
  • Dermatology Unit

External person

Kleefstra, Tjitske

  • 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

Strauss, Lewis C.

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

External person

Jayaram, Kala

  • BioMarin Pharmaceutical

External person

McCracken, E.

  • University of Pittsburgh

External person

Wang, R.

  • University of California at Irvine

External person

Pynoos, Robert S.

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

External person

Das, Stuti

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

External person

Wissink-Lindhout, Willemijn

  • Radboud University Nijmegen
  • Department of Human Genetics

External person

Ulm, Elizabeth

  • 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

Cormier-Daire, Valerie

  • Université Paris 5
  • Département de Génétique
  • APHP

External person

Coppinger, Justine

  • Signature Genomic Laboratories
  • Spokane

External person

Rotstein, Amichay

  • 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

Shoemaker, Lawrence

  • University of Louisville
  • Department of Pediatrics

External person

Van der Ploeg, Ans T.

  • 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

Zhang, Lin

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

External person

Shryock, Heather

  • Illinois Department of Public Health

External person

Spranger, J.

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

External person

Kini, Usha

  • 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

Schaaf, Christian P.

  • 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

Johnson, F.

  • Amicus Therapeutics

External person

Pastores, Gregory M.

  • University College Dublin

External person

He, Miao

  • University of Pittsburgh

External person

Spencer, Andrew

  • Jacobi Medical Center
  • Human Genetics Laboratory

External person

Schwake, Michael

  • 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

Bienek, Melanie

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

External person

Madsen, Erik

  • Duke University
  • Department of Cell Biology
  • Duke University Medical Center
  • Department of Cell Biology

External person

Kantola, Ilkka

  • University of Turku
  • Department of Medicine

External person

Nakagawa, Sachiko

  • Jacobi Medical Center
  • Human Genetics Laboratory

External person

Pires, Ricardo

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

External person

Wang, Raymond Y.

  • University of California at Irvine
  • CHOC Children's Specialists

External person

Remis, Jonathan

  • 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

Stewart, Julie F.

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

External person

Fryer, Alan

  • Liverpool Women's Hospital
  • Department of Clinical Genetics

External person

Gribetz, Donald

  • City University of New York
  • Department of Pediatrics

External person

Sillence, D. O.

  • 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

Waggoner, Darrell

  • University of Chicago
  • Department of Pediatrics

External person

Wang, Nan

  • 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

Skerlj, Renato

  • Lysosomal Therapeutics Inc.

External person

Weinkauf, Justin G.

  • University of Alberta
  • Department of Medicine

External person

Rehder, Catherine W.

  • Duke University
  • Clinical Molecular Diagnostic Laboratories

External person

Aleck, Kirk

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

External person

Schaefer, G. Bradley

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

External person

Eichler, Evan E.

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

External person

Dizikes, George

  • Tennessee Department of Health
  • Illinois Department of Public Health

External person

Azzam, R. K.

  • Children's Memorial Hospital
  • 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

Ross, J.

  • 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

Vaughn, Daleik

  • Virginia Commonwealth University
  • Department of Human Genetics

External person

Moser, Hugo W.

  • 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

Skuban, N.

  • Amicus Therapeutics

External person

Jackson, Leslie L.

  • University of Alabama at Birmingham
  • Cardiology Division

External person

Sharaf El Din, U.

  • Cairo University

External person

King, Allison

  • 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

Davis, Amira

  • Children's Hospital and Regional Medical Center Seattle

External person

Nobili, François

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

External person

Shaffer, Lisa G.

  • 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

Clemens, Paula R.

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

External person

Chung, W. K.

  • 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

Sullivan, Joe

  • Northwestern University

External person

Watkins, Paul A.

  • 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

Van Bon, Bregje W M

  • 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

Brunner, Han

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

External person

Rech, Megan

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

External person

Lamfers, Petra

  • Mercy Pediatrics and Adolescent Clinic

External person

Ware, Russell E.

  • 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

Gross, Susan

  • 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

External person

Colin, Estelle

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

External person

Barohn, R. J.

  • 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

External person

Friedman, J. M.

  • University of Texas Southwestern Medical Center
  • Children's Memorial Hospital
  • Shinshu University
  • Northwestern University
  • University of Texas at Austin
  • University of Cincinnati
  • University of Southern California
  • Division of Clinical Genetics
  • Johns Hopkins University
  • University of British Columbia
  • Division of Clinical Genetics
  • Departments of Pathology and Pediatrics
  • Departments of Surgery and Pediatrics
  • Division of Clinical Genetics
  • Dept. of Obstetrics and Gynecology
  • Department of Obstetrics and Gynecology
  • Bone Marrow Transplant Program
  • Department of Biochemistry
  • The Kennedy Institute
  • Department of Pediatrics
  • Division of Genetics
  • 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

Parker, Michael J.

  • Sheffield Children's Hospital
  • Sheffield Clinical Genetics Service

External person

Smith, Wendy

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

External person

Nance, Walter E.

  • 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

External person

Finkel, R. S.

  • 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

External person

Nguyen, Pamela H.

  • 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

Natowicz, Marvin

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

External person

Mrosek, Michael

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

External person

Racher, Hilary

  • University of Calgary
  • Department of Medical Genetics

External person

Pensler, Jay M.

  • 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.

External person

Heisel-Kurth, Margaret

  • Children's Hospital of Minnesota

External person

Kruer, Michael C.

  • 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

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

West, Michael L.

  • Dalhousie University
  • Division of Cardiology

External person

Elpeleg, Orly

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

External person

Politei, Juan

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

External person

Hoganson, George E.

  • Room 237
  • Duke University
  • Department of Pediatrics
  • University of Illinois at Chicago
  • University of Pittsburgh
  • Department of Pediatrics

External person

Torra, R.

  • Autonomous University of Barcelona

External person

Rinaldo, P.

  • 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

Maruti, Sonia S.

  • Genzyme Corporation

External person

Stephan, Dietrich A.

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

External person

Chan, Ming Liang

  • BioMarin Pharmaceutical

External person

Savarirayan, Ravi

  • University of Melbourne

External person

Stumpel, Connie

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

External person

Arjunan, Aishwarya

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

External person

Helsmoortel, Céline

  • University of Antwerp
  • Department of Medical Genetics

External person

Lebow, Johannah

  • Yeshiva University
  • Genetics Division

External person

Bacino, Carlos A.

  • 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

External person

Fox, Joyce

  • 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

External person

Schuurs-Hoeijmakers, Janneke

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

External person

Tortorelli, Silvia

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

External person

Mack, Cara L.

  • 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

Pfundt, Rolph

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

External person

Patel, M. R.

  • Duke University
  • Duke University Medical Center
  • Division of Cardiovascular Medicine

External person

Kirk, J.

  • Amicus Therapeutics

External person

Loew, Thomas

  • University of Iowa

External person

Lupo, Philip J.

  • Baylor College of Medicine
  • Renal Section

External person

Krapp, Stephan

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

External person

Hoefler, Sigrid

  • 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

Schneider, Adele

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

External person

Whitley, Chester B.

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

External person

Raiman, Julian

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

External person

Schiffmann, Raphael

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

External person

Casey, Robin

  • Alberta Children's Hospital

External person

Shao, Rong

  • Illinois Department of Public Health

External person

Bautista-Santos, Arnulfo

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

External person

Clewing, J. Marietta

  • 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

Harris, Catharine

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

External person

Pestronk, Alan

  • 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

Wenger, D. A.

  • 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

External person

Barth, J.

  • Amicus Therapeutics
  • PTC Therapeutics
  • PTC Therapeutics

External person

Rutledge, Lane

  • 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

Brigatti, Karlla W.

  • Marshall University
  • Clinic for Special Children

External person

Tifft, Cynthia

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

Chakraborty, Pranesh

  • 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

External person

Oliveira, João P.

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

External person

Majure, Joseph M.

  • Duke University
  • Room 237

External person

Brugnara, Milena

  • University of Verona
  • Department of Paediatrics

External person

Xue, Yong

  • Genzyme Corporation

External person

Le Quan Sang, Kim Hanh

  • Université Paris 5

External person

Campbell, Ruth C.

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

External person

Desnick, Robert J.

  • 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

Palermo, Robert A.

  • Northwestern University
  • Division of Cardiology
  • Department of Pediatrics

External person

Linthorst, Gabor E.

  • University of Amsterdam
  • Department of Endocrinology and Metabolism

External person

DeFranco, C. L.

  • Wayne State University

External person

Wu, Yaoshi

  • Genzyme Corporation

External person

Buck, Anna

  • Hannover Medical School

External person

Plotkin, Horatio

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

External person

Cordeiro, Isabel

  • University of Lisbon
  • Serviço de Genética

External person

Govender, Rajeshree

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

External person

Litwack, Karen

  • Chicago Center for Jewish Genetic Disorders

External person

Loeys, Bart L.

  • 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

Yis, Uluc

  • Dokuz Eylul University
  • Department of Pediatrics

External person

Choi, Kunho

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

External person

McHugh, Kieran

  • University College London
  • Department of Radiology

External person

Legius, Eric

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

External person

Li, Jing

  • Genzyme Corporation

External person

Benjamin, E. R.

  • Amicus Therapeutics

External person

Jeha, George S.

  • BioMarin Pharmaceutical

External person

Collins, Nick

  • Counsyl
  • Department of Genetics
  • Counsyl, Inc.
  • Department of Genetics

External person

Juusola, Jane

  • GeneDx
  • GeneDx

External person

Parness-Yossifon, Reut

  • Children's Memorial Hospital
  • Kaplan Medical Center Israel
  • Northwestern University
  • Division of Ophthalmology
  • Division of Ophthalmology
  • Department of Ophthalmology
  • Department of Ophthalmology

External person

Hendriksz, Christian J.

  • University of Manchester
  • Birmingham Women's and Children's NHS Foundation Trust
  • National Health Service
  • Christie NHS Foundation Trust
  • Salford Royal Foundation NHS Trust Salford UK
  • Christie Hospital NHS Foundation Trust
  • University of Pretoria
  • The Mark Holland Metabolic Unit NW2
  • Department of Adult Inherited Metabolic Disorders
  • The Mark Holland Metabolic Unit
  • Department of Paediatrics and Child Health
  • Steve Biko Academic Hospital
  • Northern Care Alliance NHS Group

External person

Frawley, Geoff

  • Royal Children's Hospital
  • University of Melbourne
  • Murdoch Children's Research Institute
  • Department of Paediatrics
  • Department of Anaesthesia and Pain Management
  • Department of Anaesthesia and Pain Management
  • Department of Pediatrics
  • Melbourne School of Population and Global Health

External person

Ahmad, Ayesha

  • Children's Hospital of Michigan
  • University of Pittsburgh
  • University of Michigan, Ann Arbor
  • University of Michigan

External person

Nations, Sharon

  • University of Texas at Dallas
  • University of Texas Southwestern Medical Center
  • Department of Neurology and Neurotherapeutics

External person

Lee, Philip

  • University College London
  • Charles Dent Metabolic Unit

External person

Haude, Katrina M.

  • University of Rochester
  • GeneDx

External person

Shaw, Marie

  • Women's and Children's Hospital Adelaide
  • University of Adelaide
  • SA Pathology
  • SA Pathology
  • School of Paediatrics and Reproductive Health

External person

McLaughlin, Julie

  • Children's Medical Center
  • Division of Medical Genetics
  • Hillcrest HealthCare System

External person