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Network

Desirée A. White

  • Department of Psychology
  • Washington University St. Louis
  • Department of Pediatrics
  • BRAINLab
  • Department of Psychology
  • Department of Psychology
  • Department of Psychology
  • University of Washington
  • Department of Psychology
  • Department of Pediatrics
  • Departments of Pediatrics and Anatomy and Neurobiology
  • Department of Pathology (Division of Neuropathology)
  • Program in Occupational Therapy
  • Department of Psychology
  • VA Medical Center
  • Departments of Pediatrics/Division of Pediatric Hematology/Oncology
  • Department of Psychology
  • Washington University
  • Washington university
  • Washington University

External person

Barbara K. Burton

  • Children's Memorial Hospital
  • Department of Pediatrics
  • Northwestern University
  • Department of Pediatrics
  • Division of Hematology
  • National Institutes of Health
  • Ann and Robert H. Lurie Children's Hospital
  • Division of Pulmonary and Critical Care
  • Division of Genetics

External person

Shawn E. Christ

  • Department of Psychological Sciences
  • University of Missouri
  • Department of Psychological Sciences
  • Washington University St. Louis
  • Department of Psychology
  • Department of Psychological Sciences
  • Department of Psychology
  • Thompson Center for Autism and Neurodevelopmental Disorders
  • Department of Psychological Sciences
  • Department of Psychology

External person

Robert Steiner

  • Department of Molecular and Medical Genetics
  • Department of Pediatrics
  • Marshfield Clinic
  • Oregon Health and Science University
  • Dept. of Ophthalmology/Visual Sci.
  • Washington University St. Louis
  • Departments of Pediatrics and Molecular and Medical Genetics
  • Shriners Hospitals for Children
  • Department of Pediatrics
  • Department of Surgery
  • University of Wisconsin-Madison
  • Department of Pediatrics
  • Department of Pediatrics
  • Departments of Pediatrics and Molecular and Medical Genetics
  • Department of Pediatrics

External person

Jerrel Rutlin

  • Department of Psychiatry
  • Washington University St. Louis
  • Division of Gastroenterology
  • Department of Radiology
  • Department of Biology
  • University of Puerto Rico
  • Department of Psychiatry
  • Mallinckrodt Institute of Radiology
  • Department of Radiology

External person

S. W. Cheung

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

External person

P. Stankiewicz

  • Department of Molecular and Human Genetics
  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • Institute of Mother and Child
  • Department of Molecular and Human Genetics
  • Department of Medical Genetics
  • Molecular and Human Genetics
  • Baylor Genetics
  • Department of Medical Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Baylor Genetics, LLC

External person

Linda P. Manwaring

  • Department of Pediatrics
  • Washington University St. Louis
  • Department of Pediatrics
  • Division of Laboratory and Genomic medicine
  • Department of Pediatrics
  • Department of Pediatrics

External person

Joan C. Marini

  • National Institutes of Health
  • Heritable Disorders Branch
  • Human Genetics Branch
  • Rehabilitation Medicine Department
  • Bone and Extracellular Matrix Branch
  • Unit on Connective Tissue Disorders

External person

Gijs Van Haaften

  • Department of Genetics
  • Utrecht University
  • Department of Medical Genetics
  • Washington University St. Louis
  • Departments of Chemistry and Molecular Biology and Pharmacology and Cell Biology and Physiology
  • Department of Genetics
  • Center for Molecular Medicine

External person

Carlos A. Bacino

  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Model Organism Screening Center
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • BCM
  • BCM
  • Texas Children's Hospital Center for Vaccine Development

External person

Beth A. Kozel

  • National Institutes of Health
  • Department of Pediatrics
  • Washington University St. Louis
  • Department of Pediatrics
  • Department of Cell Biology
  • Dept. of Cell Biology and Physiology
  • Dept. of Cell Biology and Physiology
  • Division of Laboratory and Genomic medicine
  • Center for Investigation of Membrane Excitability Diseases
  • Division of Oncology
  • Departments of Pediatrics and Genetics
  • Current Affiliation
  • Division of Genetics and Genomic Medicine
  • Department of Cell Biology and Physiology
  • Department of Cell Biology and Physiology

External person

Alejandro Dorenbaum

  • BioMarin Pharmaceutical Inc.
  • Genentech Incorporated

External person

Mieke M. Van Haelst

  • Department of Clinical Genetics
  • Vrije Universiteit Amsterdam
  • University of Amsterdam
  • Department of Clinical Genetics
  • Department of Genetics
  • Utrecht University
  • Department of Clinical Genetics

External person

Jonathan A. Bernstein

  • National Institutes of Health
  • Stanford University
  • Division of Stem Cell Transplantation and Regenerative Medicine
  • Center for Undiagnosed Diseases
  • Department of Pediatrics
  • Stanford

External person

Anna Hood

  • Department of Psychology
  • Washington University St. Louis
  • BRAINLab
  • Cincinnati Children's Hospital Medical Center
  • University College London

External person

MARY BETH LEWIS

  • Human Genetics Branch
  • National Institutes of Health
  • Unit on Connective Tissue Disorders

External person

Wendy K. Chung

  • Columbia University
  • Membership of the SPARK Consortium Members is Provided in the Acknowledgements
  • Simons Foundation
  • The Pediatric Neuromuscular Clinical Research Network

External person

A. Patel

  • Department of Molecular and Human Genetics
  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Medical Genetics Laboratories
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Texas Children's Hospital Center for Vaccine Development

External person

Shashikant Kulkarni

  • Edward Mallinckrodt Departments of Pediatrics and Pharmacology
  • Department of Pathology and Immunology
  • Washington University St. Louis
  • Department of Pathology and Immunology
  • Department of Genomics and Pathology Services
  • Department of Pathology
  • Department of Genetics
  • Department of Pediatrics
  • Department of Genetics
  • Department of Genetics
  • Department of Pathology and Immunology
  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • Department of Pathology and Immunology
  • Genome Center
  • Association for Molecular Pathology
  • Interpretation of Sequence Variants in Somatic Conditions Working Group of the Clinical Practice Committee
  • Baylor Genetics
  • Department of Pediatrics
  • Department of Molecular and Human Genetics
  • Departments of Pathology and Immunology
  • Department of Pathology and Immunology
  • Division of Oncology
  • Divisions of Critical Care and Cardiology
  • Department of Pathology and Immunology
  • Department of Genetics
  • Department of Pathology and Immunology
  • Department of Pathology and Immunology, Department of Pediatrics, Department of Genetics
  • Department of Pathology and Immunology, Department of Pediatrics, Department of Genetics
  • Dan L. Duncan Cancer Center
  • Department of Pediatrics
  • Alvin J. Siteman Cancer Center
  • Neuropathology Division
  • Department of Genetics
  • Department of Pathology and Immunology, Department of Pediatrics, Department of Genetics
  • Department of Pathology and Immunology, Department of Pediatrics, Department of Genetics
  • Department of Pathology and Immunology
  • Department of Pediatrics
  • Department of Genetics
  • Department of Genetics
  • Baylor Genetics, LLC
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Division of Laboratory and Genomic medicine
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Pathology and Immunology
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Texas Children's Hospital Center for Vaccine Development

External person

Chin To Fong

  • Clinic of Inherited Metabolic Disease
  • University of Rochester
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Pediatrics
  • Departments of Pediatrics and of Medicine

External person

Jill A. Rosenfeld

  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • Molecular and Human Genetics
  • Signature Genomic Laboratories
  • PerkinElmer, Inc.
  • National Institutes of Health
  • Signature Genomic Laboratories
  • Model Organism Screening Center
  • Human Genome Sequencing Center
  • Baylor Genetics
  • Signature Genomic Laboratories, LLC
  • Department of Molecular and Human Genetics
  • Baylor Genetics, LLC
  • BCM
  • BCM

External person

Mark Lipson

  • Kaiser Permanente
  • Medical Genetics
  • Department of Genetics

External person

Edwin P. Kirk

  • School of Women's and Children's Health
  • University of New South Wales
  • Dept of Medical Genetics
  • Centre for Clinical Genetics
  • School of Women's and Children's
  • Sydney Children's Hospital
  • New South Wales Ministry of Health
  • Sydney Children's Hospital
  • Prince of Wales Hospital
  • New South Wales Health Pathology Genomic Laboratory
  • School of Women's and Children's Health
  • New South Wales Department Of Health

External person

Cary O. Harding

  • Oregon Health and Science University

External person

Helen I. Roessler

  • Washington University St. Louis
  • Departments of Chemistry and Molecular Biology and Pharmacology and Cell Biology and Physiology
  • Department of Genetics
  • Utrecht University
  • Center for Molecular Medicine

External person

Marilyn C. Jones

  • Department of Pediatrics
  • University of California at San Diego
  • Rady Children's Hospital
  • Department of Pediatrics

External person

H. Van Esch

  • Center for Human Genetics
  • KU Leuven
  • Gene Transfer Laboratory

External person

Jerry Vockley

  • University of Pittsburgh
  • Mayo Clinic Rochester, MN
  • Department of Medical Genetics
  • School of Medicine

External person

Gary Gottesman

  • Department of Medical Genetics
  • Saint Louis University
  • Center for Metabolic Bone Disease and Molecular Research
  • Shriners Hospitals for Children
  • Center for Metabolic Bone Disease and Molecular Research
  • Shriners Hospital for Children
  • Division of Medical Genetics
  • Shriners Hospital for Children
  • Center for Metabolic Bone Disease and Molecular Research
  • Washington University St. Louis
  • Division of Medical Genetics
  • Metabolic Research Unit
  • Metabolic Research Unit
  • Division of Bone and Mineral Diseases
  • Department of Pediatrics
  • National Institutes of Health
  • Human Genetics Branch
  • Unit on Connective Tissue Disorders
  • Metabolic Research Unit
  • Division of Medical Genetics

External person

Katherine M. Christensen

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

External person

George E. Hoganson

  • Department of Pediatrics
  • University of Illinois at Chicago

External person

Michael J. Bamshad

  • Department of Genome Sciences
  • University of Washington
  • Division of Genetic Medicine
  • Children's Hospital and Regional Medical Center Seattle
  • Department of Pediatrics
  • Department of Pediatrics
  • PNW Research Station
  • Brotman Baty Institute for Precision Medicine

External person

J. R. Lupski

  • Department of Pediatrics
  • Baylor College of Medicine
  • Texas Children's Hospital
  • Human Genome Sequencing Center
  • Department of Pediatrics
  • Department of Molecular and Human Genetics
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Dept. of Molec. and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Genetics
  • Texas Children's Hospital
  • Texas Children's Hospital Center for Vaccine Development

External person

Eva Morava

  • Department of Pediatrics
  • Radboud University Nijmegen
  • Department of Medical Genetics
  • University of Pecs
  • Division of Nephrology
  • Mayo Clinic Rochester, MN

External person

Nine V.A.M. Knoers

  • Department of Genetics
  • Utrecht University
  • University of Groningen
  • Department of Genetics
  • Department of Human Genetics
  • Radboud University Nijmegen

External person

Seema R. Lalani

  • Baylor College of Medicine
  • Departments of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Molecular and Human Genetics
  • National Institutes of Health
  • Model Organism Screening Center
  • Department of Molecular and Human Genetics
  • Human Genome Sequencing Center
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • BCM
  • BCM
  • Texas Children's Hospital Center for Vaccine Development

External person

Sha Tang

  • Division of Clinical Genomics
  • Ambry Genetics
  • Division of Clinical Genomics
  • Department of Clinical Genomics
  • Ambry Genetics
  • Division of Clinical Genomics
  • Department of Clinical Genomics

External person

Jerome L. Gorski

  • Departments of Child Health and Pathology and Anatomical Sciences
  • University of Missouri
  • Division of Medical Genetics
  • Division of Cardiology
  • University of Michigan, Ann Arbor
  • Department of Child Health
  • Department of Child Health
  • Department of Child Health
  • Department of Pathology & Anatomical Sciences

External person

Bregje Van Bon

  • Department of Human Genetics
  • Radboud University Nijmegen
  • Department of Human Genetics

External person

Khaja Basheeruddin

  • Illinois Department of Public Health

External person

Nicola Longo

  • Medical Genetics and Pediatrics
  • University of Utah
  • Department of Pediatrics

External person

Zoë W. Hawks

  • BRAINLab
  • Washington University St. Louis

External person

Deborah Nickerson

  • University of Washington
  • Department of Genome Sciences
  • Department of Genome Sciences
  • University of Washington
  • PNW Research Station
  • Brotman Baty Institute for Precision Medicine
  • Northwest Genomics Center
  • Children's Hospital and Regional Medical Center Seattle

External person

Marisa V. Andrews

  • Edward Mallinckrodt Department of Pediatrics
  • Washington University St. Louis
  • Department of Pediatrics
  • Baylor College of Medicine
  • Human Genome Sequencing Center

External person

Fernando Scaglia

  • Baylor College of Medicine
  • Chinese University of Hong Kong
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Dept. of Molec. and Human Genetics
  • Texas Children's Hospital Center for Vaccine Development

External person

Maximilian Muenke

  • National Institutes of Health
  • Medical Genetics Branch
  • Medical Genetics Branch
  • Medical Genetics Branch

External person

Heather Shryock

  • Illinois Department of Public Health

External person

Jean P. Pfotenhauer

  • Vanderbilt University
  • Department of Pediatrics
  • Department of Pediatrics

External person

Jane Juusola

  • GeneDX Inc

External person

William R. Wilcox

  • Ahmanson Department of Pediatrics
  • Department of Pediatrics
  • University of California at Los Angeles
  • Cedars-Sinai Medical Center
  • Med. Genetics Birth Defects Center
  • Department of Human Genetics
  • International Skeletal Dysplasia Registry
  • Emory University
  • Division of Medical Genetics
  • Department of Human Genetics
  • Department of Human Genetics

External person

Stephen R. Braddock

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

External person

Katelyn Payne

  • Riley Hospital for Children
  • Indiana University-Purdue University Indianapolis
  • Department of Neurology
  • Indiana University Health
  • Indiana University Bloomington

External person

Jo Ann V. Antenor-Dorsey

  • Division of Gastroenterology
  • Washington University St. Louis
  • Department of Anatomy and Neurobiology
  • Department of Psychiatry
  • Dept. of Anatomy and Neurobiology
  • Department of Psychiatry

External person

Erich Roessler

  • National Institutes of Health
  • Medical Genetics Branch
  • Medical Genetics Branch
  • Medical Genetics Branch

External person

Brendan H. Lee

  • Department of Molecular and Human Genetics
  • Baylor College of Medicine
  • Howard Hughes Medical Institute
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Dept. of Molec. and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Pediatrics
  • Department of Molecular and Human Genetics
  • Human Genome Sequencing Center
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • BCM
  • BCM
  • National Institutes of Health
  • Texas Children's Hospital Center for Vaccine Development

External person

Daniel J. Wegner

  • Edward Mallinckrodt Departments of Pediatrics and Pharmacology
  • Washington University St. Louis
  • Division of Newborn Medicine
  • Edward Mallinckrodt Department of Pediatrics
  • Department of Pediatrics
  • Department of Pediatrics
  • University of Washington
  • Department of Pediatrics
  • Division of Neonatology
  • Washington university
  • Edward Mallinckrodt Department of Pediatrics

External person

Kenneth Huttner

  • Edimer Pharmaceuticals
  • Novartis/NIBR/NIDU

External person

B. D. Solomon

  • Medical Genetics Branch
  • Medical Genetics Branch
  • National Institutes of Health
  • Inova Health System
  • Division of Medical Genomics
  • Department of Pediatrics
  • GeneDX Inc

External person

Ophir Klein

  • University of California at San Francisco
  • Division of Orthodontics
  • Center for Craniofacial Anomalies
  • Department of Laboratory Medicine & Institute for Human Genetics
  • Program in Craniofacial and Mesenchymal Biology

External person

Conor McClenaghan

  • Washington University St. Louis
  • Departments of Chemistry and Molecular Biology and Pharmacology and Cell Biology and Physiology
  • Department of Cell Biology and Physiology
  • Cell Biology and Physiology
  • Departments of
  • Center for the Investigation of Membrane Excitability Diseases
  • Dept. of Cell Biology and Physiology
  • Center for Investigation of Membrane Excitability Diseases
  • Department of Cell Biology and Physiology
  • From the Department of Cell Biology and Physiology
  • Cell Biology and Physiology
  • Center for the Investigation of Membrane Excitability Diseases (CIMED)
  • Department of Cell Biology and Physiology
  • Department of Cell Biology

External person

Suneeta Madan-Khetarpal

  • Department of Medical Genetics
  • University of Pittsburgh
  • Baylor College of Medicine
  • Human Genome Sequencing Center

External person

Stephen P. Robertson

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

External person

Rong Shao

  • Illinois Department of Public Health

External person

Ayman W. El-Hattab

  • Division of Medical Genetics
  • University of Missouri
  • Department of Pediatrics
  • King Saud bin Abdulaziz University for Health Sciences
  • Division of Clinical Genetics and Metabolic Disorders
  • Tawam Hospital
  • Department of Child Health

External person

Bertrand Isidor

  • Department of Medical Genetics
  • Université de Nantes
  • Service de Génétique Médicale
  • Clinical Genetics Unit
  • CHU de Nantes
  • Nantes University Hospital

External person

Hussam Al-Kateb

  • Department of Pathology and Immunology
  • Washington University St. Louis
  • Genomic and Pathology Service
  • Department of Pathology and Immunology
  • Department of Pathology and Immunology
  • Cincinnati Children's Hospital Medical Center
  • Department of Genomics and Pathology Services

External person

Jennifer E. Posey

  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • National Institutes of Health
  • Model Organism Screening Center
  • Human Genome Sequencing Center
  • BCM
  • BCM

External person

Alexander Hoischen

  • Center for Medical Genetics and Molecular Medicine
  • Department of Human Genetics
  • University of Bergen
  • Radboud University Nijmegen
  • Department of Human Genetics
  • National Institutes of Health
  • Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI)

External person

Julie Fleischer

  • Southern Illinois University
  • Department of Pediatrics
  • Washington University St. Louis
  • Department of Pediatrics

External person

Stephen R.F. Twigg

  • Clinical Genetics Group
  • University of Oxford

External person

Ellen S. Regalado

  • Department of Internal Medicine
  • University of Texas Health Science Center at Houston
  • Department of Internal Medicine
  • Department of Internal Medicine and Neurosurgery
  • Division of Clinical and Translational Sciences
  • Department of Internal Medicine
  • Division of Medical Genetics
  • University of Texas at Houston Health Science Centre
  • University of Texas at Austin

External person

Heather Bausell

  • Division of Clinical Nutrition/Genetics
  • Children's Memorial Hospital
  • Division of Hematology

External person

Kristian Tveten

  • Department of Medical Genetics
  • Sykehuset Telemark

External person

Michael J. Bamshad

  • University of Washington
  • Department of Genome Sciences
  • Department of Pediatrics
  • University of Utah
  • Department of Genome Sciences
  • Children's Hospital and Regional Medical Center Seattle
  • Division of Genetic Medicine
  • Department of Pediatrics
  • Brotman Baty Institute for Precision Medicine

External person

Keita Uchida

  • Washington University St. Louis
  • Department of Cell Biology and Physiology
  • Division of Oncology
  • Department of Cell Biology and Physiology
  • Center for Membrane Excitability
  • Department of Cell Biology and Physiology
  • Center for Investigation of Membrane Excitability Diseases

External person

J. M. Opitz

  • Department of Pathology
  • University of Wisconsin-Madison

External person

Gert Mortier

  • Center for Human Genetics
  • Ghent University
  • University of Antwerp
  • Department of Medical Genetics

External person

Giuseppe Zampino

  • Istituto di Pediatria
  • Catholic University of the Sacred Heart
  • Center for Rare Disease and Congenital Defects
  • Fondazione Policlinico Universitario Agostino Gemelli IRCCS

External person

Tjitske Kleefstra

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

External person

Ingrid Scurr

  • Department of Clinical Genetics
  • University Hospitals Bristol and Weston NHS Foundation Trust
  • Bristol Genetics Service (Avon
  • Department of Clinical Genetics
  • University of Bristol
  • University Hospitals
  • University Hospitals Bristol NHS Foundation Trust

External person

M. P. Pietryga

  • Department of Molecular and Human Genetics
  • Nationwide Children’s Hospital
  • Baylor College of Medicine
  • Department of Molecular and Human Genetics

External person

Enid Gilbert-Barness

  • Department of Pathology
  • University of South Florida
  • Department of Pathology
  • University of Wisconsin-Madison

External person

Arie van Haeringen

  • Leiden University
  • Department of Clinical Genetics

External person

Chad Shaw

  • Department of Medicine
  • Dan L Duncan Cancer Center
  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Baylor Genetics
  • Department of Molecular and Human Genetics
  • Baylor Genetics, LLC

External person

Alex R. Paciorkowski

  • Departments of Neurology
  • Center for Neural Development and Disease
  • University of Rochester
  • Department of Neurology
  • University of Washington
  • Department of Pediatrics
  • Department of Neurology
  • Department of Biomedical Genetics
  • Children's Hospital and Regional Medical Center Seattle
  • Department of Neurology
  • Division of Critical Care Medicine
  • Washington University St. Louis
  • Department of Neurology
  • Department of Neurology, U Rochester
  • Department of Neurology
  • Center for Integrative Brain Research
  • Department of Neurology

External person

Zeynep H. Coban Akdemir

  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • Baylor-Hopkins Center for Mendelian Genomics
  • Human Genome Sequencing Center

External person

Barbara A. Zehnbauer

  • Department of Pathology
  • Washington University St. Louis
  • Department of Pediatrics (Zehnbauer)
  • Department of Pathology and Immunology
  • Department of Pathology and Immunology
  • Division of Urologic Surgery
  • Department of Pediatrics
  • Department of Pathology
  • Department of Pathology
  • Core Laboratory
  • Departments of Pediatrics and Pathology and Immunology
  • Centers for Disease Control and Prevention
  • Emory University
  • Department of Pathology
  • Department of Pathology
  • Department of Pediatrics
  • Molecular Diagnostics Laboratory
  • Department of Pathology
  • Laboratory Practice Evaluation and Genomics Branch
  • Department of Immunology and Pathology
  • Division of Laboratory Science and Standards
  • Department of Pediatrics
  • Washington Univ. School of Medicine
  • Department of Pediatrics
  • Neuropathology Division
  • Department of Pediatrics

External person

A. Sommer

  • Nationwide Children’s Hospital
  • Children’s Hospital

External person

Joseph Shen

  • Chinese Academy of Medical Sciences
  • Department of Orthopedic Surgery
  • Department of Medical Genetics and Metabolism
  • Children's Hospital of Central California
  • Department of Molecular and Human Genetics
  • Baylor College of Medicine
  • Peking Union Medical College

External person

Hai Xia Zhang

  • Department of Cell Biology and Physiology
  • Washington University St. Louis
  • Division of Oncology
  • Department of Cell Biology and Physiology
  • Department of Cell Biology and Physiology
  • Center for Investigation of Membrane Excitability Diseases
  • Center for Membrane Excitability
  • Cell Biology and Physiology
  • Dept. of Cell Biology and Physiology
  • Dept. of Cell Biology and Physiology
  • Cell Biology and Physiology
  • Departments of
  • Center for the Investigation of Membrane Excitability Diseases

External person

Ann Haskins Olney

  • University of Nebraska Medical Center

External person

Sung Hae L. Kang

  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • Minneapolis Heart Institute
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics

External person

Louanne Hudgins

  • Stanford University
  • Division of Stem Cell Transplantation and Regenerative Medicine
  • Baylor College of Medicine
  • Human Genome Sequencing Center

External person

Katherine B. Bosanko

  • Section of Genetics and Metabolism
  • University of Arkansas for Medical Sciences
  • Division of Pediatric Pulmonary and Sleep Medicine
  • University of Arkansas for Medical Sciences

External person

Marisa Vineyard

  • Department of Pediatrics
  • Washington University St. Louis
  • Departments of Pediatrics and Genetics
  • Department of Pediatrics

External person

Benjamin Cogné

  • Department of Medical Genetics
  • Université de Nantes
  • Institut national de la santé et de la recherche médicale
  • Service de Génétique Médicale
  • CNRS
  • CHU de Nantes
  • Nantes University Hospital

External person

Kathleen A. Leppig

  • Kaiser Permanente
  • Genetic Services
  • Group Health Cooperative

External person

Elizabeth Roeder

  • Children's Hospital of San Antonio
  • University of Texas Health Science Center at San Antonio
  • Department of Pediatrics
  • Department of Pediatrics
  • University of California at San Francisco
  • Prenatal Detection Unit
  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • Department of Pediatrics

External person

Heather C. Mefford

  • University of Washington
  • Department of Pediatrics
  • Department of Genome Sciences
  • Division of Genetic Medicine
  • Division of Genetic Medicine
  • Children's Hospital and Regional Medical Center Seattle
  • Department of Pediatrics
  • Brotman Baty Institute for Precision Medicine

External person

Christine Bodemer

  • Université Paris 5
  • Department of Dermatology
  • Université de Paris
  • Imagine Institute

External person

Thomas Besnard

  • Service de Génétique Médicale
  • Université de Nantes
  • CHU de Nantes
  • Nantes University Hospital

External person

Mauricio Delgado

  • Scottish Rite Hospital for Children
  • University of Texas Southwestern Medical Center
  • Department of Neurology
  • Department of Pediatrics and Neurology and Neurotherapeutics
  • Department of Neurology
  • University of Texas at Dallas
  • Department of Neurology and Neurotherapeutics

External person

Olaf A. Bodamer

  • University of Miami
  • Division of Genetics and Genomics
  • Harvard University

External person

Deborah Krakow

  • Orthopaedic Institute for Children
  • Department of Human Genetics
  • Department of Orthopaedic Surgery
  • Department of Obstetrics and Gynecology
  • University of California at Los Angeles
  • International Skeletal Dysplasia Registry
  • Department of Orthopaedic Surgery
  • Department of Human Genetics
  • Department of Obstetrics and Gynecology
  • Cedars-Sinai Medical Center
  • Department of Human Genetics
  • Medical Genetics Institute

External person

E. E. Palmer

  • GOLD (Genetics of Learning and Disability) Service
  • Hunter Health
  • School of Women's and Children's Health
  • University of New South Wales
  • Genetics of Learning Disability Service
  • Sydney Children's Hospital
  • Sydney Children's Hospital
  • Garvan Institute of Medical Research
  • Genetics of Learning Disability Service
  • School of Women's and Children's Health

External person

Jennifer L. Kussmann

  • Division of Medical Genetics
  • University of Missouri
  • Department of Child Health
  • Department of Child Health

External person

Florence Petit

  • Service de Génétique Clinique
  • Universite de Lille 2
  • Université de Lille

External person

Dawn S. Peck

  • Division of Medical Genetics
  • University of Missouri
  • Department of Child Health
  • Department of Child Health

External person

Darius J. Adams

  • Pediatric Genetics Group
  • Albany Medical College
  • Division of Hematology
  • Children's Memorial Hospital
  • Atlantic Health

External person

Andrzej Milanowski

  • Institute of Mother and Child

External person

John B. Moeschler

  • Dartmouth College
  • Department of Pediatrics
  • Dartmouth-Hitchcock Medical Center

External person

Sarah F. Smithson

  • Department of Clinical Genetics
  • University Hospitals Bristol and Weston NHS Foundation Trust
  • Bristol Genetics Service (Avon
  • Department of Clinical Genetics
  • University of Bristol
  • University Hospitals
  • University Hospitals Bristol NHS Foundation Trust

External person

Elizabeth J. Bhoj

  • University of Pennsylvania
  • Division of Human Genetics
  • Center for Applied Genomics
  • Clinical Genetics Department

External person

A. Luisiri

  • Washington University St. Louis
  • Washington University School of Medicine
  • Saint Louis University
  • Division of Pediatric Surgery

External person

Friedrich Trefz

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

External person

John I. Malone

  • Department of Pediatrics
  • University of South Florida
  • University of Tennessee System
  • Division of Hematology
  • Children's Memorial Hospital
  • Diabetes Center
  • University of Tennessee, Knoxville
  • University of South
  • University of Tennessee

External person

M. Lance Cooper

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

External person

Rachel Hickey

  • Children's Memorial Hospital
  • Division of Hematology

External person

DANIEL H. COHN

  • Departments of Pathology
  • University of Washington
  • University of California at Los Angeles
  • Cell
  • Department of Orthopaedic Surgery
  • Department of Molecular
  • Cardiovascular Health Research Unit
  • Orthopaedic Institute for Children
  • Department of Orthopaedic Surgery
  • Department of Molecular
  • International Skeletal Dysplasia Registry
  • Department of Molecular, Cell and Developmental Biology
  • Department of Pediatrics
  • Division of Medical Genetics
  • Cedars-Sinai Medical Center
  • Division of Cardiology
  • Department of Human Genetics
  • Medical Genetics Institute

External person

Raoul C.M. Hennekam

  • University of Amsterdam
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Paediatrics and Translational Genetics
  • Division Emma Children's Hospital
  • Division Emma Children's Hospital

External person

R. I. Kelley

  • University of Pennsylvania
  • Biochemical Genetics Laboratory
  • Kennedy Krieger Institute
  • Department of Pediatrics
  • Johns Hopkins University
  • Department of Pediatrics

External person

Amber Begtrup

  • GeneDX Inc

External person

Kathleen Shields

  • Washington University St. Louis

External person

Nancy Clegg

  • Scottish Rite Hospital for Children
  • University of Texas at Dallas

External person

Bert B.A. de Vries

  • Department of Human Genetics
  • Radboud University Nijmegen
  • Department of Human Genetics
  • Donders Institute for Brain
  • Department of Human Genetics and Donders Centre for Neuroscience
  • Department of Cognitive Neuroscience

External person

Susan M. Hiatt

  • HudsonAlpha Institute for Biotechnology

External person

Gabriel C. Araujo

  • Department of Psychology
  • Washington University St. Louis
  • Department of Psychology
  • University of Washington
  • Department of Psychology
  • Washington University

External person

Sébastien Küry

  • CHU de Nantes
  • Université de Nantes
  • L'institut du Thorax
  • Cancer Council Victoria
  • Nantes University Hospital

External person

Alison M. Elliott

  • University of British Columbia

External person

Gerard T. Berry

  • Harvard University
  • Department of Pediatrics
  • Harvard

External person

Jacqueline R. Batanian

  • Saint Louis University
  • Department of Pathology
  • Department of Pediatrics
  • Molecular Cytogenetics Laboratory
  • Washington University St. Louis
  • Departments of Pathology
  • Pediatrics
  • Department of Pediatrics
  • Cardinal Glennon Children's Hospital
  • Molecular Cytogenetics Laboratory
  • Department of Pediatrics
  • Molecular Cytogenetics Laboratory
  • Division of Medical Genetics
  • Department of Pathology
  • Pediatrics
  • Cardinal Glennon Children’s Hospital
  • Department of Pediatrics

External person

Ralph S. Lachman

  • Ahmanson Department of Pediatrics
  • Department of Pediatrics
  • Department of Radiology
  • University of California at Los Angeles
  • Cedars-Sinai Medical Center
  • AP-HP, Department of Genetics
  • Université Paris 5
  • Stanford University
  • International Skeletal Dysplasia Registry
  • Department of Radiology
  • Université de Paris

External person

Hartmut Engels

  • University of Bonn

External person

Chester B. Whitley

  • University of Minnesota Twin Cities
  • Department of Pediatrics
  • Molecular
  • Department of Pediatrics
  • Department of Genetics, Cell Biology and Development

External person

Anita E. Beck

  • University of Washington
  • Division of Genetic Medicine
  • Children's Hospital and Regional Medical Center Seattle
  • Department of Pediatrics
  • Department of Pediatrics
  • PNW Research Station

External person

Carol L. Clericuzio

  • University of New Mexico
  • Department of Pediatrics
  • Department of Genetics
  • Division of Clinical Genetics/Dysmorphology

External person

Wendy E. Smith

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

External person

Yaping Yang

  • National Institutes of Health
  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • Model Organism Screening Center
  • Baylor Genetics
  • Human Genome Sequencing Center
  • Baylor Genetics Laboratories
  • Baylor Genetics, LLC

External person

Daniel Groepper

  • Southern Illinois University
  • Department of Pediatrics

External person

J. Boyle

  • GOLD (Genetics of Learning and Disability) Service
  • Hunter Health
  • Genetics of Learning Disability Service

External person

Denise Horn

  • Institute for Medical Genetics and Human Genetics
  • Charité – Universitätsmedizin Berlin
  • Institut für Humangenetik
  • Humboldt University of Berlin

External person

John R. Østergaard

  • Department of Paediatrics
  • Aarhus University
  • Aarhus University Hospital Skejby

External person

Zhishuo Ou

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

External person

Michael R. DeBaun

  • Dept. of Pediat. and Biostatistics
  • Patient Oriented Research Unit
  • Washington University St. Louis
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Neurology
  • Vanderbilt University
  • Departments of Pediatrics and Medicine
  • Division of Hematology
  • Pediatrics
  • Department of Pediatrics
  • Departments of Neurology, Pediatrics and Radiology
  • Department of Pediatrics
  • Division of Geriatrics and Nutritional Science
  • Division of Genetics
  • Departments of Pediatrics/Division of Pediatric Hematology/Oncology
  • Department of Pediatrics
  • Genetic Epidemiology Branch
  • National Institutes of Health
  • Department of Medicine and Neurology
  • Department of Pediatrics
  • Washington Univ. School of Medicine
  • Department of Pediatrics
  • Division of Urologic Surgery
  • School of Medicine
  • Division of Hematology and Oncology
  • Division of Hematology/Oncology, and Neurology
  • Pediatric Hematology and Oncology
  • Pediatric Pediatric Hematology and Oncology
  • Department of Biostatistics
  • Program in Occupational Therapy
  • Pediatrics
  • University of Washington
  • Division of Oncology
  • Dept. of Obstetrics and Gynecology
  • Division of Biostatistics
  • Department of Pediatrics
  • Department of Pediatrics
  • Division of Newborn Medicine
  • Washington Univ. Sch. Med. St. Louis
  • Department of Neurology
  • Department of Pediatrics
  • Division of Hematology/Oncology Department of Medicine
  • Departments of Pediatrics
  • Division of Hematology and Oncology
  • Departments of Radiology and Pediatrics
  • Department of Pediatrics
  • Departments of Medicine and Pediatrics
  • APS Council
  • School of Dental Medicine

External person

Gaëtan Lesca

  • Hospices civils de Lyon
  • Universite Claude Bernard Lyon 1
  • Université de Lyon
  • Department of Medical Genetics
  • Institut national de la santé et de la recherche médicale
  • Centre de Recherche en Neurosciences de Lyon
  • Lyon University Hospital
  • CHU-Lyon Sud

External person

Katherine L. Helbig

  • Division of Clinical Genomics
  • Ambry Genetics
  • Division of Clinical Genomics
  • University of Pennsylvania
  • Division of Neurology
  • Ambry Genetics
  • Division of Clinical Genomics

External person

Nicola Brunetti-Pierri

  • Washington University St. Louis
  • Department of Pediatrics
  • Department of Pediatrics
  • University of Naples Federico II
  • Department of Molecular and Human Genetics
  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Translational Medicine
  • Fondazione Telethon
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Texas Children's Hospital Center for Vaccine Development

External person

Sandra Peacock

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

External person

Catherine E. Cottrell

  • Department of Pathology and Immunology
  • Washington University St. Louis
  • Departments of Surgery and Immunology
  • Institute for Genomic Medicine
  • Nationwide Children’s Hospital
  • Department of Pathology and Immunology
  • Department of Genetics
  • Department of Genetics
  • Department of Pathology and Immunology
  • Genomics and Pathology Services
  • Institute for Genomic Medicine
  • Ohio State University
  • Department of Pathology
  • Department of Pathology and Immunology
  • Departments of Pathology and Immunology
  • Department of Pathology and Immunology

External person

Laura Mazzanti

  • Department of Pediatrics
  • University of Bologna
  • Azienda Ospedaliero-Universitaria di Bologna Policlinico S. Orsola – Malpighi

External person

Kayt D. Marra

  • Pediatric Genetics Group
  • Albany Medical College
  • Division of Hematology
  • Children's Memorial Hospital

External person

David B. Flannery

  • Georgia Prevention Institute
  • Medical College of Georgia
  • Augusta University

External person

Neil Kirby

  • Edimer Pharmaceuticals

External person

Megan T. Cho

  • GeneDX Inc
  • National Institutes of Health
  • Columbia University
  • Department of Pediatrics
  • New York University
  • Department of Pediatrics

External person

John W. Belmont

  • Human Genome Sequencing Center
  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Human Genome Sequencing Center
  • Department of Molecular and Human Genetics
  • Texas Children's Hospital Center for Vaccine Development

External person

Erin Torti

  • Department of Pediatrics
  • Saint Louis University
  • GeneDX Inc

External person

Dong H. Kim

  • Department of Neurosurgery
  • University of Texas Health Science Center at Houston
  • Department of Neurosurgery
  • Department of Internal Medicine and Neurosurgery
  • Department of Neurosurgery
  • Harvard University

External person

Weihong Jin

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

External person

Pengfei Liu

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

External person

Cynthia J. Curry

  • Genetic Medicine
  • University of California at San Francisco
  • Department of Genetic Medicine
  • Valley Children's Hospital/UCSF
  • Genetic Medicine
  • University of California Office of the President
  • Departments of Medical Genetics and Cytogenetics
  • University of California at San Francisco Medical Education Program
  • Departments of Medical Genetics and Cytogenetics
  • Oregon Health and Science University
  • University of California at Los Angeles
  • Imperial Cancer Research Fund
  • Department of Pediatrics
  • Valley Children's Hospital - Fresno County
  • Genetic Medicine
  • University of California
  • University of California at San Francisco Medical Education Program
  • University of California at Berkeley
  • Genetic Medicine Central California
  • University of California

External person

Kwame Anyane-Yeboa

  • Columbia University
  • Department of Pediatrics
  • New York University
  • Department of Pediatrics

External person

Elise Fiala

  • Department of Pediatrics
  • Washington University St. Louis

External person

Constantine A. Stratakis

  • National Institutes of Health

External person

Stephanie E. Vallee

  • Dartmouth College
  • Dartmouth-Hitchcock Medical Center

External person

Mathilde Nizon

  • Université de Nantes
  • Service de Génétique Médicale
  • CNRS
  • CHU de Nantes
  • Nantes University Hospital

External person

Kathleen T. Swan

  • University of South Florida
  • Division of Hematology
  • Children's Memorial Hospital

External person

Ganka Douglas

  • GeneDX Inc

External person

David S. Brink

  • Departments of Pathology and Pediatrics
  • Department of Pediatric Pathology
  • SSM Health Cardinal Glennon Children's Medical Center
  • Saint Louis University
  • Division of Pediatric Surgery

External person

Robert J. Hopkin

  • Department of Pediatrics
  • University of Cincinnati
  • Cincinnati Children's Hospital Medical Center
  • Cincinnati Children's Hospital
  • Division of Human Genetics
  • The Lipid Research Clinic
  • Division of Human Genetics
  • Division of Developmental Biology

External person

Mary Beth Dinulos

  • Div. of Genet. and Child Development
  • Children's Hospital at Dartmouth
  • Dartmouth College
  • Pediatrics and Pathology Department
  • Geisel School of Medicine at Dartmouth
  • Div. of Genet. and Child Development
  • Children's Hospital at Dartmouth

External person

Julia B. Hennermann

  • Charité – Universitätsmedizin Berlin

External person

Paul Mark

  • Spectrum Health

External person

Mark D. Levin

  • Department of Pediatrics
  • Washington University St. Louis
  • Division of Oncology
  • Department of Pediatrics
  • National Institutes of Health
  • Center for Investigation of Membrane Excitability Diseases
  • Department of Pediatrics

External person

Laurie Sprietsma

  • Division of Laboratory and Genomic medicine
  • Washington University St. Louis
  • Department of Pediatrics
  • Division of Hematology
  • Children's Memorial Hospital
  • Department of Pediatrics
  • Division of Genetics and Genomic Medicine

External person

H. Schneider

  • Molecular Genetics Section
  • Imperial College London
  • Department of Pediatrics
  • Friedrich-Alexander University Erlangen-Nürnberg

External person

Margaret P. Adam

  • Division of Genetic Medicine
  • University of Washington
  • Children's Hospital and Regional Medical Center Seattle
  • Department of Pediatrics
  • PNW Research Station

External person

Eric A. Crombez

  • Department of Pediatrics
  • University of California at Los Angeles

External person

John A. Phillips

  • Department of Pediatrics
  • Vanderbilt University
  • Department of Pediatrics
  • Department of Pediatrics
  • National Institutes of Health
  • Department of Pediatrics
  • Department of Pediatrics
  • Division of Hematology/Oncology
  • Vanderbilt Clinic

External person

Dong chuan Guo

  • Department of Internal Medicine
  • University of Texas Health Science Center at Houston
  • Department of Internal Medicine
  • Department of Internal Medicine and Neurosurgery
  • Division of Clinical and Translational Sciences
  • Department of Internal Medicine
  • Department of Internal Medicine
  • Department of Internal Medicine

External person

Vishwanathan Hucthagowder

  • Department of Pathology and Immunology
  • Washington University St. Louis
  • Department of Pathology and Immunology
  • Inc.
  • Department of Pediatrics

External person

Joel Charrow

  • Department of Pediatrics
  • Division of Genetics
  • Children's Memorial Hospital
  • Northwestern University
  • Ann and Robert H. Lurie Children's Hospital
  • Neurofibromatosis Clinic
  • Division of Genetics
  • Division of Genetics
  • Ann and Robert H. Lurie Children's Hospital of Chicago
  • Division of Hematology

External person

William J. Craigen

  • Department of Molecular and Human Genetics
  • Baylor College of Medicine
  • National Institutes of Health
  • Department of Molecular and Human Genetics
  • Model Organism Screening Center
  • Baylor Genetics
  • Department of Molecular and Human Genetics
  • Department of Pediatrics
  • Department of Molecular and Human Genetics
  • Dept. of Molec. and Human Genetics
  • Baylor Genetics, LLC
  • BCM
  • BCM
  • Texas Children's Hospital Center for Vaccine Development

External person

Elaina Jurecki

  • BioMarin Pharmaceutical Inc.
  • Division of Hematology
  • Children's Memorial Hospital

External person

L. J. Wong

  • Department of Molecular and Human Genetics
  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • Department of Medical Genetics Laboratories
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Washington University St. Louis
  • Department of Pediatrics
  • Medical Genetics Laboratories
  • Baylor Genetics
  • Department of Molecular and Human Genetics
  • Baylor Genetics, LLC

External person

Jill Clayton-Smith

  • Manchester Centre for Genomic Medicine
  • University of Manchester
  • Imperial College Healthcare NHS Trust
  • St Mary's Hospital – Imperial College Healthcare NHS Trust

External person

Amber N. Pursley

  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Texas Children's Hospital Center for Vaccine Development

External person

John M. Graham

  • Ahmanson Department of Pediatrics
  • Department of Pediatrics
  • University of California at Los Angeles
  • Cedars-Sinai Medical Center
  • Medical Genetics Institute
  • Department of Pediatrics
  • Department of Pediatrics

External person

J. M. Friedman

  • University of British Columbia

External person

Lauren Hitchins

  • Children's Memorial Hospital
  • Northwestern University
  • Division of Hematology

External person

Jeroen Breckpot

  • KU Leuven
  • Gene Transfer Laboratory

External person

Koen L.I. van Gassen

  • Utrecht University
  • Department of Metabolic Diseases
  • Department of Genetics

External person

Heiko Reutter

  • Department of Neonatology
  • University of Bonn

External person

Ruth Newbury-Ecob

  • Department of Clinical Genetics
  • University Hospitals Bristol and Weston NHS Foundation Trust
  • Department of Clinical Genetics
  • University of Bristol
  • Clinical Genetics Service
  • University Hospitals Bristol NHS Foundation Trust

External person

Marianne McGuire

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

External person

Alain Verloes

  • Wallonia Centre for Human Genetics
  • University of Liege
  • CHU Sart Tilman

External person

R. A. Martin

  • Shire
  • Saint Louis University
  • Washington University St. Louis

External person

Ghayda M. Mirzaa

  • Department of Pediatrics
  • Center for Integrative Brain Research
  • Children's Hospital and Regional Medical Center Seattle
  • University of Washington
  • The University of Chicago
  • Department of Human Genetics
  • Cystic Fibrosis Foundation Therapeutics Development Network Coordinating Center
  • Department of Human Genetics
  • Seattle Children’s Research Institute
  • Center for Integrative Brain Research
  • Seattle Children's Research Institute
  • Center for Integrative Brain Research
  • Seattle Children’s Research Institute
  • Department of Pediatrics
  • Brotman Baty Institute for Precision Medicine
  • PNW Research Station

External person

Christine Weaver

  • Carle Clinic
  • University of Illinois at Chicago

External person

Ann S. Martin

  • Carolinas Medical Center

External person

Yaser I. Aljadhai

  • Department of Neuroimaging and Intervention
  • King Fahad Medical City

External person

Min Lee Yang

  • University of Michigan, Ann Arbor
  • Department of Internal Medicine
  • Howard Hughes Medical Institute

External person

Meghan Dumas

  • Maine Medical Center

External person

Susan Kenwrick

  • Cardiovascular Research Institute
  • University of California at San Francisco
  • Cambridge University Hospitals NHS Foundation Trust

External person

Stephen C. Groft

  • Office of Rare Diseases Research
  • National Institutes of Health
  • Office of Rare Diseases Research

External person

Eliana Kovitch

  • PANDA Neurology

External person

Samarth S. Bhatt

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

External person

Kathryn A. Miller

  • Imperial College London
  • Epidemiology and Biostatistics
  • Albany Medical College

External person

Marie T. McDonald

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

External person

Amal AlHashem

  • Department of Anatomy and Cell Biology
  • Alfaisal University

External person

Melissa A. Ploeg

  • ENCORE Center for Neurodevelopmental Disorders
  • Department of Neuroscience
  • Erasmus University Rotterdam

External person

Rebecca Archer

  • Department of Psychology
  • Washington University St. Louis

External person

Felix Marbach

  • Heidelberg University 

External person

Kusiel Perlman

  • University of Toronto

External person

Jessica Douglas

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

External person

Alan H. Beggs

  • Harvard University
  • National Institutes of Health
  • UDN Coordinating Center
  • Harvard

External person

Julian A. Martínez-Agosto

  • Division of Cardiology
  • University of California at Los Angeles
  • Department of Human Genetics
  • Department of Pediatrics
  • Department of Human Genetics
  • Division of Child and Adolescent Psychiatry
  • Departments of Human Genetics and Psychiatry

External person

O. M. Wilkie

  • University of Oxford

External person

Margaret J. McMillin

  • Division of Genetic Medicine
  • Children's Hospital and Regional Medical Center Seattle
  • University of Washington
  • Department of Pediatrics
  • Department of Pediatrics

External person

Uma M. Reddy

  • National Institutes of Health
  • Pregnancy and Perinatology Branch
  • Yale University
  • Thomas Jefferson University

External person

Jennifer E. Below

  • Vanderbilt University
  • University of Texas Health Science Center at Houston
  • Human Genetics Center
  • Harvard University
  • School of Public Health
  • Department of Epidemiology
  • Human Genetics Center
  • Department of Medical Genetics
  • Center for Quantitative Sciences
  • Department of Genome Sciences
  • University of Washington

External person

Kyle Retterer

  • GeneDX Inc

External person

Maria Nowacka

  • Institute of Mother and Child

External person

Kimberlee Matalon

  • University of Houston

External person

J. M. Goehringer

  • Autism and Developmental Medicine Institute
  • Geisinger Medical Center

External person

Anil K. Agarwal

  • Department of Internal Medicine
  • University of Texas Southwestern Medical Center
  • Department of Internal Medicine

External person

Alessandra d'Azzo

  • Howard Hughes Medical Institute
  • University of Tennessee Health Science Center
  • Ctr. of Genomics and Bioinformatics
  • St. Jude Children Research Hospital

External person

Xénia Latypova

  • Université de Nantes
  • Service de Génétique Médicale
  • CHU de Nantes
  • Nantes University Hospital

External person

Mingjin Li

  • BioMarin Pharmaceutical Inc.

External person

Catharine Harris

  • Division of Medical Genetics
  • University of Missouri at St. Louis
  • University of Missouri

External person

Silvia Maitz

  • Clinical Pediatric Genetics Unit
  • Azienda Ospedaliera San Gerardo Monza
  • University of Milan - Bicocca

External person

Alberto Fernández-Jaén

  • Hospital Universitario Quirón Madrid
  • Universidad Europea de Madrid

External person

Sander Pajusalu

  • Department of Clinical Genetics
  • Department of Clinical Genetics
  • University of Tartu
  • Department of Genetics
  • Yale University

External person

Nils Rahner

  • Heinrich Heine University Düsseldorf
  • Institute of Human Genetics
  • Medical Faculty

External person

Leena M. Ala-Kokko

  • Connective Tissue Gene Tests
  • Allegheny University Medical School
  • Center for Gene Therapy
  • Biocenter
  • University of Oulu

External person

Volkan Okur

  • Columbia University
  • Department of Pediatrics
  • New York University
  • Department of Pediatrics

External person

Rita Shiang

  • Department of Human Genetics
  • Virginia Commonwealth University

External person

Jessica L. Cohen-Pfeffer

  • BioMarin Pharmaceutical Inc.

External person

Jeffrey P. Brosco

  • University of Miami
  • Department of Pediatrics

External person

Panagiotis Katsonis

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

External person

R. Rodney Howell

  • University of Miami
  • Nicklaus Children's Hospital

External person

Bruce Gelb

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

External person

Vandana Shashi

  • Duke University
  • National Institutes of Health
  • Duke Hospital

External person

Julia Wang

  • Medical Scientist Training Program and Program in Developmental Biology
  • Baylor College of Medicine
  • BCM
  • Medical Scientist Training Program
  • Program in Developmental Biology

External person

Jean Michel Liet

  • Université de Nantes
  • CHU de Nantes
  • Nantes University Hospital

External person

Yufeng Huang

  • Molecular Cytogenetics Laboratory
  • Cardinal Glennon Children's Hospital
  • Cardinal Glennon Children’s Hospital
  • Molecular Cytogenetics Laboratory
  • Washington University St. Louis

External person

Grace J. Noh

  • Department of Pediatrics
  • Cedars-Sinai Medical Center

External person

Korbinian M. Riedhammer

  • Institute of Human Genetics
  • Technical University of Munich

External person

Alexandra Afenjar

  • Département de génétique médicale
  • Assistance publique – Hôpitaux de Paris
  • APHP
  • Centre de Référence Déficiences Intellectuelles de Causes Rares
  • Hôpital Armand Trousseau
  • GRC ConCer-LD
  • Département de génétique et embryologie médicale
  • Centre de Référence malformations et maladies congénitales du cervelet
  • Sorbonne Université
  • Hôpital Trousseau, CHU de Tours

External person

Bin Zhang

  • Department of Pathology and Immunology
  • Washington University St. Louis
  • University of Rochester

External person

A. Smith

  • Pacific Data Designs

External person

Christina Luedke

  • Division of Endocrinology
  • Harvard University

External person

Lise Larcher

  • AP-HP
  • Sorbonne Université

External person

H. Najmabadi

  • Genetics Research Center
  • University of Social Welfare and Rehabilitation Sciences

External person

Stefania Gimelli

  • University of Geneva
  • Service of Genetic Medicine

External person

Celeste Decker

  • BioMarin Pharmaceutical Inc.

External person

Susan Lansky-Shafer

  • Carle Clinic
  • University of Illinois at Chicago

External person

Tanya N. Nelson

  • University of British Columbia
  • Department of Medical Genetics
  • Department of Medical Genetics
  • Department of Medical Genetics

External person

John H. Ferguson

  • Office of Rare Diseases Research
  • National Institutes of Health
  • University Medical Center New Orleans
  • Section of Gynecologic Oncology
  • Division of Digestive Diseases and Nutrition

External person

Frédérique Béna

  • University of Geneva
  • Service of Genetic Medicine

External person

Cornelis Jakobs

  • Metabolic Unit
  • Vrije Universiteit Amsterdam

External person

Kathleen L. Berkner

  • Department of Molecular Cardiology
  • Case Western Reserve University

External person

Robert J. Gorlin

  • Department of Oral Biology and Genetics
  • University of Minnesota Twin Cities

External person

Andrzej A. Dlugosz

  • Department of Dermatology and Comprehensive Cancer Center
  • University of Michigan, Ann Arbor
  • Department of Dermatology
  • University of Michigan Hospitals

External person

Chirag Patel

  • Genetic Health Queensland
  • Royal Brisbane and Women's Hospital
  • West Midlands Regional Genetics Service
  • Birmingham Women's and Children's NHS Foundation Trust
  • Royal Brisbane and Women's Hospital

External person

Marco Seri

  • University of Bologna
  • Department of Medical and Surgical Sciences
  • Azienda Ospedaliero-Universitaria di Bologna Policlinico S. Orsola – Malpighi

External person

John Kendrick-Jones

  • Medical Research Council

External person

Valeria Orlando

  • IRCCS Ospedale pediatrico Bambino Gesù - Roma
  • Genetics and Rare Diseases Research Division

External person

Alexander A.L. Jorge

  • Unidade de Endocrinologia Do Desenvolvimento (LIM/42)
  • Universidade de São Paulo
  • University of Michigan, Ann Arbor
  • Howard Hughes Medical Institute
  • Unidade de Endocrinologia Genetica (LIM25)

External person

Emily Place

  • Ocular Genomics Institute
  • Harvard University

External person

Jessica Gardner

  • University of Cape Town

External person

C. Thorpe

  • Department of Pathology
  • Saint Louis University
  • Department of Pathology
  • St. Louis University School of Medicine
  • Department of Pathology
  • Department of Pathology

External person

Marie Vincent

  • Service de Génétique Médicale
  • Université de Nantes
  • CHU de Nantes
  • Nantes University Hospital

External person

F. Hennig

  • Research Group Development and Disease
  • Max Planck Institute for Molecular Genetics

External person

Claudia Nash

  • Illinois Department of Public Health

External person

Mattia Bosio

  • Centre for Genomic Regulation (CRG)
  • Pompeu Fabra University
  • The Barcelona Institute of Science and Technology
  • Barcelona Supercomputing Center

External person

Klaas J. Wierenga

  • Department of Pediatrics and
  • University of Oklahoma
  • Department of Pediatrics
  • Mayo Clinic Jacksonville, FL

External person

Gayle S. Patel

  • Clinical Genetics
  • Texas Oncology

External person

Melissa A. Parisi

  • National Institutes of Health

External person

David K. Manchester

  • Clinical Genetics and Metabolism
  • Children's Hospital
  • Clinical Genetics and Metabolism
  • Children's Hospital

External person

Jérémie Mortreux

  • Aix-Marseille Université

External person

Georgianne L. Arnold

  • Department of Pediatrics
  • University of Pittsburgh
  • Department of Pediatrics
  • University of Rochester

External person

Jochen K.M. Lennerz

  • Department of Pathology and Immunology
  • Department of Pathology
  • Harvard University
  • Washington University St. Louis
  • Departments of Surgery and Immunology
  • Cardiology
  • Ulm University
  • Institute of Pathology
  • Departments of Pathology and Immunology
  • Department of Pathology
  • Department of Cell Biology and Physiology
  • Neuropathology Division
  • Department of Pathology and Immunology
  • Division of Gastroenterology
  • Departments of Medicine, Pathology and Immunology, and Developmental Biology
  • Department of Pathology and Immunology

External person

Jillian S. Parboosingh

  • University of Calgary
  • Alberta Children’s Hospital Research Institute and Department of Medical Genetics
  • Department of Medical Genetics
  • Department of Medical Genetics
  • Department of Medical Genetics
  • Department of Medical Genetics
  • Department of Medical Genetics

External person

Sabrina S. Paulo

  • Pediatrics Department
  • Universidade de São Paulo

External person

B. Moghaddam

  • Division of Genetics
  • University of California at Davis
  • H. A. Chapman Institute
  • OK University Schusterman Center

External person

Florence Fellmann

  • Service de Génétique Médicale
  • University of Lausanne
  • Service of Medical Genetics

External person

S. C. Sreenath Nagamani

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

External person

Gregory M. Rice

  • University of Wisconsin-Madison

External person

David FitzPatrick

  • Med. Res. Cncl. Human Genetics Unit
  • University of Edinburgh
  • NHS Lothian
  • Wellcome Trust
  • Western General Hospital

External person

Julie Désir

  • Medical Genetics Department
  • Université libre de Bruxelles
  • Institut de Pathologie et de Génétique

External person

Renzo Guerrini

  • Paediatric Neurology
  • NEUROFARBA
  • University of Florence
  • IRCCS Fondazione Stella Maris - Calambrone (Pisa)
  • Azienda Ospedaliero Universitaria Meyer
  • Pediatric Neurology Unit and Laboratories
  • Children's Hospital
  • Pediatric Neurology
  • Children's Hospital Anna Meyer–University of Florence

External person

Jeffrey W. Delaney

  • Division of Cardiology
  • Children's Hospital and Medical Center
  • University of Nebraska Medical Center
  • Division of Cardiology
  • Children's Hospital and Medical Center of Omaha
  • Department of Pediatrics
  • Department of Pediatrics
  • Medical Center
  • Children's Hospital
  • Division of Pediatric Cardiology
  • University of Nebraska Omaha
  • Children's Hospital

External person

Marc S. Williams

  • Genomic Medicine Institute
  • Geisinger Medical Center
  • Geisinger

External person

Wenjuan Zhang

  • Department of Molecular
  • University of California at Los Angeles

External person

Anna F. Lee

  • Department of Pathology and Laboratory Medicine
  • University of British Columbia

External person

S. A. Skinner

  • Greenwood Genetics Center
  • J.C. Self Res. Inst. of Hum. Genet.
  • Membership of the SPARK Consortium Members is Provided in the Acknowledgements
  • Greenwood Genetic Center

External person

Jean Marie Saudubray

  • Department of Pediatrics
  • Université Paris 5
  • Université de Paris

External person

G. Vockley

  • University of Pittsburgh

External person

A. A. Keaton

  • Medical Genetics Branch
  • National Institutes of Health

External person

Megan K. Dishop

  • Department of Pathology and Laboratory Medicine
  • The Children's Hospital, Aurora
  • Department of Pathology and Laboratory Medicine
  • University of Colorado Denver
  • Department of Pathology
  • Baylor College of Medicine
  • Phoenix Children's Hospital
  • Pathology and Laboratory Medicine
  • University of Kentucky
  • Department of Pathology
  • Department of Pathology and Laboratory Medicine
  • Department of Pathology
  • Department of Pathology
  • Office of Graduate Medical Education
  • University of Colorado Anschutz Medical Campus
  • Texas Children's Hospital Center for Vaccine Development

External person

Cara Inglese

  • University of British Columbia

External person

Ryan F. Richholt

  • Translational Genomics Research Institute
  • Neurogenomics Division

External person

Marialetizia Motta

  • IRCCS Ospedale pediatrico Bambino Gesù - Roma

External person

Sandra Whalen

  • Unité Fonctionnelle de génétique clinique
  • Hôpital Armand Trousseau
  • Sorbonne Université

External person

David Chitayat

  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Pediatrics
  • Yeshiva University
  • University of Pennsylvania
  • St. Joseph's Hospital and Medical Center
  • Department of Pediatrics
  • Harvard University
  • University of British Columbia
  • Department of Obstetrics and Gynecology
  • Prenatal Diagnosis and Medical Genetics Program
  • University of Toronto
  • Division of Clinical and Metabolic Genetics

External person

S. M. Ware

  • Division of Molecular Cardiovascular Biology
  • Division of Human Genetics
  • Medical Center
  • Cincinnati Children's Hospital Medical Center
  • University of Cincinnati
  • Indiana University-Purdue University Indianapolis
  • Medical and Molecular Genetics
  • Indiana University Bloomington

External person

Fiona H. Levy

  • Division of Critical Care
  • Washington University St. Louis
  • Department of Pediatrics
  • Division of Oncology
  • Division of Critical Care Medicine

External person

Anna Lehman

  • University of British Columbia

External person

James M. Swanson

  • Child Development Center, Department of Pediatrics
  • University of California at Irvine
  • Department of Pediatrics

External person

Justyna A. Karolak

  • Department of Genetics and Pharmaceutical Microbiology
  • University of Medical Sciences Poznan
  • Baylor College of Medicine
  • Department of Molecular and Human Genetics

External person

Tabib Dabir

  • Belfast Health and Social Care Trust
  • City Hospital

External person

Kimberly N. Forlenza

  • Department of Orthopaedic Surgery
  • University of California at Los Angeles

External person

Daniel E. Pineda-Alvarez

  • Now at Invitae
  • GeneDX Inc
  • Medical Genetics Branch

External person

Bret L. Bostwick

  • Baylor College of Medicine

External person

Tina M. Bartell

  • Department of Genetics
  • Kaiser Permanente

External person

Frances J. Rohr

  • Harvard University

External person

U. Fischer

  • Department of Human Molecular Genetics
  • Max Planck Institute for Molecular Genetics
  • Research Group Development and Disease

External person

Jack C. Cheng

  • Department of Orthopaedics and Traumatology
  • Chinese University of Hong Kong
  • Department of Orthopaedics and Traumatology
  • University of Colorado Denver

External person

Olivier Pichon

  • Service de Génétique Médicale
  • Université de Nantes
  • CHU de Nantes
  • Nantes University Hospital

External person

Donna A. Wall

  • Manitoba Blood and Marrow Transplant Program
  • Saint Louis University
  • Washington University St. Louis
  • Washington University School of Medicine
  • University of Manitoba
  • Department of Pediatrics and Child Health
  • Cellular Therapy Laboratory
  • Department of Pathology
  • Division of Hematology/Oncology, and Neurology
  • Pediatric Hematology/Oncology
  • CureSearch

External person

Nancy Miller

  • Department of Orthopedics
  • University of Colorado Anschutz Medical Campus
  • Children’s Hospital of Colorado
  • Musculoskeletal Research Center
  • Department of Orthopaedic Surgery
  • University of Iowa
  • Spine Institute
  • Department of Orthopaedic Surgery
  • University of Colorado Denver
  • Department of Orthopaedic Surgery
  • Sports Medicine and Hip Preservation Service
  • Musculoskeletal Research Center
  • The Children's Hospital, Aurora

External person

Isabelle Olivos-Glander

  • National Institutes of Health

External person

Brigitte van Oirschot

  • Laboratory of Clinical Chemistry and Hematology
  • Utrecht University

External person

M. J. Bull

  • Indiana University-Purdue University Indianapolis
  • Department of Pediatrics
  • Riley Hospital for Children
  • Section of Developmental Pediatrics
  • Indiana University Bloomington

External person

Gajja S. Salomons

  • Metabolic Unit
  • Vrije Universiteit Amsterdam
  • University of Amsterdam

External person

Alexander Asamoah

  • Department of Pediatrics
  • University of Louisville

External person

Sandra M. Sirrs

  • University of British Columbia

External person

H. Stewart

  • Department of Clinical Genetics
  • Oxford University Hospitals NHS Foundation Trust
  • Berkshire Healthcare NHS. Foundation Trust
  • Oxford Centre for Genomic Medicine
  • Oxford Regional Genetics Service

External person

T. D. Challman

  • Autism and Developmental Medicine Institute
  • Geisinger Medical Center
  • Geisinger Autism and Developmental Medicine Institute

External person

Beth N. Ogata

  • University of Washington

External person

Leslie L. Harris

  • Department of Pediatrics
  • Baylor College of Medicine
  • Texas Children's Hospital Center for Vaccine Development

External person

Michele A. Lloyd-Puryear

  • Office of Dietary Supplements
  • National Institutes of Health

External person

Latrice Wysinger

  • The University of Chicago
  • Department of Human Genetics
  • Department of Human Genetics

External person

Emil Kakkis

  • BioMarin Pharmaceutical Inc.
  • Ultragenyx Pharmaceutical Inc.
  • Harbor-UCLA Res. Educ. Inst.
  • Division of Medical Genetics
  • Kakkis EveryLife Foundation
  • Department of Pediatrics
  • University of California at Los Angeles
  • Division of Medical Genetics

External person

Hans Hilger Ropers

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

External person

Bruno Dallapiccola

  • IRCCS Ospedale pediatrico Bambino Gesù - Roma
  • Genetics and Rare Diseases Research Division

External person

Cesare Rossi

  • Genetica Medica
  • University of Bologna
  • Azienda Ospedaliero-Universitaria di Bologna Policlinico S. Orsola – Malpighi

External person

Claudia G. Gonzaga-Jauregui

  • Regeneron Genetics Center
  • Regeneron Pharmaceuticals, Inc.
  • Baylor College of Medicine
  • Department of Molecular and Human Genetics

External person

Abhimanyu Garg

  • Department of Internal Medicine
  • University of Texas Southwestern Medical Center
  • Department of Internal Medicine

External person

Susan Sparks

  • University of Minnesota Twin Cities
  • Carolinas HealthCare System
  • Carolinas Medical Center
  • Levine Children's Hospital at Carolina Healthcare System

External person

Jeff L. Waugh

  • Department of Neurology
  • Department of Neurology
  • Harvard University
  • Division of Neuroscience
  • Department of Neurology
  • Pediatric Movement Disorders Clinic
  • Department of Pediatrics
  • Department of Neurology
  • University of Texas Southwestern Medical Center
  • Children's Hospital New Orleans

External person

Eyby Leon

  • Children's National Medical Center
  • Children's National Medical Center

External person

Bernard Thienpont

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

External person

Y. Zafer

  • Quest Diagnostics
  • Quest Diagnostics Incorporated

External person

Zeynep Tümer

  • Kennedy Center
  • Deparment of Clinical Medicine
  • Kennedy Institute - National Eye Clinic
  • University of Copenhagen
  • Department of Clinical Medicine

External person

Nicolas Joram

  • Université de Nantes
  • CHU de Nantes
  • Nantes University Hospital

External person

Marcia Ferguson

  • Harvey Institute for Human Genetics
  • Greater Baltimore Medical Center

External person

Denise K. Liberton

  • University of Calgary
  • Hotchkiss Brain Institute

External person

Szabolcs Szelinger

  • Translational Genomics Research Institute
  • Neurogenomics Division
  • Translation Genomic Research Institute
  • Division of Neurogenomics
  • TGen

External person

Nathaniel W. York

  • Center for Investigation of Membrane Excitability Diseases
  • Washington University St. Louis
  • Department of Cell Biology and Physiology
  • Department of Cell Biology and Physiology

External person

Kelly D. Farwell Hagman

  • Ambry Genetics
  • Ambry Genetics

External person

Albert David

  • Université de Nantes
  • Service de Génétique Médicale
  • CHU de Nantes
  • Nantes University Hospital

External person

Guntram Borck

  • Ulm University
  • Institute of Human Genetics
  • Institute of Human Genetics
  • University of Cologne
  • Institute of Human Genetics

External person

Tom J. Smith

  • Donald Danforth Plant Science Center
  • Department of Biological Sciences
  • Purdue University
  • Department of Biochemistry and Molecular Biology
  • University of Texas Medical Branch at Galveston

External person

Bruce Bennetts

  • Western Sydney Genetics Program
  • University of Sydney
  • Disciplines of Genetic Medicine and Pediatric and Child Health

External person

Lucy Park

  • Harvard-Forsyth Department of Oral Biology
  • Harvard University

External person

Andrew P. Feinberg

  • Institute of Genetic Medicine
  • Johns Hopkins University
  • Department of Medicine
  • Department of Biomedical Engineering
  • Center for Epigenetics
  • Department of Mental Health
  • Center for Epigenetics
  • Department of Medicine

External person

Heather N. Yeowell

  • Division of Dermatology
  • Duke University

External person

Luis F. Escobar

  • Ascension Health

External person

Jonathan S. Berg

  • Department of Genetics
  • Department of Medicine
  • University of North Carolina at Chapel Hill
  • Department of Genetics
  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Pediatrics

External person

Judith Bebchuk

  • Statistics Collaborative

External person

Alberto B. Burlina

  • Azienda Ospedaliera di Padova
  • University of Padua
  • Department of Pediatrics

External person

S. Bernes

  • Phoenix Children's Hospital
  • Department of Neurology

External person

Kathryn M. Camp

  • Office of Dietary Supplements
  • National Institutes of Health

External person

Floris C. Hofstede

  • Utrecht University
  • Department of Metabolic Diseases

External person

Anne Laure Mosca-Boidron

  • Université de Bourgogne
  • UF Innovation en diagnostic genomique des maladies rares

External person

Jason Pinner

  • Department of Molecular and Clinical Genetics
  • Royal Prince Alfred Hospital
  • Department of Medical Genomics

External person

Richard L. Heideman

  • Division of Hematology Oncology
  • University of New Mexico
  • Division of Neurooncology
  • St Judes Childrens Research Hospital

External person

Sau Wai Cheung

  • Department of Molecular and Human Genetics
  • Baylor College of Medicine
  • Medical Genetics Laboratories
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Texas Children's Hospital Center for Vaccine Development

External person

Victoria P. Dalzell

  • Maine Medical Partners

External person

Jerry Vockley

  • University of Pittsburgh

External person

Meghan C. Towne

  • Harvard University
  • Manton Center for Orphan Disease Research
  • Division of Genetics and Genomics
  • Ambry Genetics

External person

Gail E. Graham

  • Department of Genetics
  • University of Ottawa

External person

Moise Danielpour

  • Cedars-Sinai Medical Center
  • Division of Urology

External person

David J. Aughton

  • Department of Pediatrics
  • William Beaumont Hospital

External person

Heidi Christ-Schmidt

  • Statistics Collaborative

External person

Anne Chun Hui Tsai

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

External person

C. P. Schaaf

  • Baylor College of Medicine
  • Jan and Dan Duncan Neurological Research Institute
  • Department of Molecular and Human Genetics
  • Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Center for Molecular Medicine Cologne
  • University of Cologne
  • Institute of Human Genetics
  • Center for Rare Diseases
  • Heidelberg University 
  • Texas Children's Hospital Center for Vaccine Development

External person

Andrew J. Gifford

  • Department of Anatomical Pathology
  • School of Women's and Children's Health
  • Prince of Wales Hospital
  • University of New South Wales

External person

James T. Bennett

  • University of Washington
  • Department of Pediatrics
  • Department of Pediatrics
  • PNW Research Station

External person

André Reis

  • Institute of Human Genetics
  • Friedrich-Alexander University Erlangen-Nürnberg

External person

Merlin G. Butler

  • Departments of Psychiatry and Behavioral Sciences and Pediatrics
  • University of Kansas

External person

Jessica Tusi

  • Baylor College of Medicine
  • Human Genome Sequencing Center

External person

Alan Ma

  • University of Sydney
  • Sydney Children's Hospital

External person

Valérie Layet

  • Groupe Hospitalier du Havre

External person

Carsten G. Bönnemann

  • Division of Neurology
  • Children's Hospital of Philadelphia
  • University of Pennsylvania
  • National Institutes of Health
  • Department of Neurology
  • Neuromuscular and Neurogenetic Disorders of Childhood Section
  • Division of Neurology
  • Division of Neurology
  • Division of Neurology
  • Departments of Neurology and Pediatrics

External person

Andreja Škofljanec

  • Department of Paediatric Intensive Care
  • University of Ljubljana

External person

Robert J. Lipinski

  • Department of Comparative Biosciences
  • University of Wisconsin-Madison
  • Department of Comparative Biosciences

External person

Saba Sile

  • BioMarin Pharmaceutical Inc.

External person

Jarmo Jääskeläinen

  • Department of Pediatrics
  • University of Eastern Finland

External person

Dov B. Lerman-Sinkoff

  • BRAINLab
  • Washington University St. Louis
  • Department of Biomedical Engineering
  • Medical Scientist Training Program

External person

Daniel J. Gruskin

  • Emory University

External person

Stephan J. Sanders

  • Program on Neurogenetics
  • Department of Genetics
  • Department of Psychiatry
  • Yale University
  • Department of Psychiatry
  • University of Pittsburgh
  • University of California at San Francisco
  • Psychiatry
  • Department of Psychiatry
  • Department of Genetics
  • Child Study Center
  • University of California at Los Angeles

External person

Mathula Thangarajh

  • Department of Neurology
  • Washington University St. Louis
  • Children's National Medical Center
  • Queen Silvia Children's Hospital
  • Department of Neurology
  • Departments of Pediatrics and Neurology
  • Department of Neurology
  • Division of Neurology
  • Children's National Medical Center

External person

Simone Martinelli

  • Department of Hematology, Oncology and Molecular Medicine
  • Istituto Superiore di Sanita

External person

Yvan Campos

  • Howard Hughes Medical Institute
  • University of Tennessee Health Science Center
  • Ctr. of Genomics and Bioinformatics
  • St. Jude Children Research Hospital

External person

K. Kahrizi

  • Genetics Research Center
  • University of Social Welfare and Rehabilitation Sciences

External person

Roberto Mendoza-Londono

  • Division of Clinical and Metabolic Genetics
  • University of Toronto
  • Department of Pediatrics
  • Genetics and Genome Biology

External person

Alanna F. Bree

  • Scientific Advisory Council for the National Foundation for Ectodermal Dysplasias

External person

Bradford L. Therrell

  • National Newborn Screening and Genetics Resource Center
  • University of Texas Health Science Center at San Antonio
  • Department of Pediatrics

External person

Steven M. Lorch

  • Washington University St. Louis
  • Department of Pediatrics

External person

Maria Orsaria

  • Institute of Hygiene and Epidemiology
  • University of Udine

External person

Ladonna L. Immken

  • Clinical Genetics
  • Dell Children's Medical Center of Central Texas
  • Specially for Children
  • Department of Clinical and Metabolic Genetics

External person

L. C. Walker

  • Division of Dermatology
  • Duke University

External person

Janet Thomas

  • University of Colorado Denver

External person

Alice F. Goodwin

  • Program in Craniofacial and Mesenchymal Biology
  • University of California at San Francisco

External person

Timothy J. Maarup

  • Department of Pediatrics
  • University of California at Los Angeles
  • Department of Genetics
  • Kaiser Permanente

External person

Douglas Moeckel

  • Washington University St. Louis
  • Department of Internal Medicine
  • Neonatal-Perinatal Medicine

External person

Mark C. Hannibal

  • Div. of Genet. and Devmtl. Medicine
  • University of Michigan, Ann Arbor
  • Department of Pediatrics and Communicable Diseases
  • Division of Genetic Medicine
  • University of Washington
  • Div. of Genet. and Devmtl. Medicine

External person

Shalini Jhangiani

  • Baylor College of Medicine
  • Human Genome Sequencing Center
  • Department of Molecular and Human Genetics
  • Dept. of Molec. and Human Genetics

External person

Michael Regnier

  • Center for Cardiovascular Biology
  • Department of Bioengineering
  • Institute for Stem Cell and Regenerative Medicine
  • University of Washington

External person

Eissa A. Faqeih

  • Section of Medical Genetics
  • King Fahad Medical City
  • Children's Specialist Hospital
  • Section of Medical Genetics

External person

Cornelius F. Boerkoel

  • Department of Medical Genetics
  • University of British Columbia

External person

Jenny C. Taylor

  • Oxford Biomedical Research Centre
  • National Institute for Health Research (NIHR)
  • University of Oxford
  • Comprehensive Biomedical Research Centre
  • National Institute for Health Research

External person

Mónica Martínez-García

  • Medical Department

External person

Rebecca Willaert

  • GeneDX Inc
  • Baylor Genetics, LLC

External person

Karin Writzl

  • Clinical Institute of Medical Genetics
  • University of Ljubljana

External person

Giovanni Neri

  • Instituto di Genetica Medica
  • Catholic University of the Sacred Heart

External person

D. D.D. Study

  • Wellcome Sanger Institute

External person

Eduard A. Struys

  • Metabolic Unit
  • Vrije Universiteit Amsterdam

External person

M. Rossi

  • Institut national de la santé et de la recherche médicale
  • Centre de Recherche en Neurosciences de Lyon

External person

Chao Xing

  • McDermott Center for Human Growth and Development
  • University of Texas Southwestern Medical Center

External person

Vipulkumar Patel

  • Baylor Genetics
  • Baylor Genetics, LLC

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Shoji Watanabe

  • Harvard-Forsyth Department of Oral Biology
  • Department of Plastic and Reconstructive Surgery
  • Showa University
  • Harvard University

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Indira P. Jevaji

  • National Institutes of Health
  • Office of Research on Women's Health (ORWH)

External person

D. Lacombe

  • Groupe hospitalier Pellegrin

External person

Margot A. Cousin

  • Mayo Clinic Rochester, MN
  • Center for Individualized Medicine
  • Department of Health Sciences Research

External person

Yung Zhu

  • New South Wales Ministry of Health
  • New South Wales Department Of Health

External person

Michael T. Geragthy

  • University of Ottawa

External person

Julia Metreau

  • Assistance publique – Hôpitaux de Paris

External person

Joseph F. Maher

  • Center for Human Genetics
  • University of Texas Southwestern Medical Center

External person

Nikolaos Settas

  • National Institutes of Health

External person

Brad Tinkle

  • Department of Genetics
  • Advocate Children's Hospital

External person

Melissa Lees

  • North East Thames Regional Genetics Service
  • University College London

External person

Betty Y.L. Hsu

  • University of Pennsylvania

External person

Snehlata Oberoi

  • Program in Craniofacial and Mesenchymal Biology
  • Center for Craniofacial Anomalies
  • University of California at San Francisco

External person

Marshall Summar

  • Vanderbilt University
  • Department of Pediatrics
  • Children's National Medical Center
  • Children's National Medical Center
  • Genetics and Metabolism
  • Center for Human Genetics Research
  • Children's National Medical Center
  • Division of Genetics and Metabolism

External person

Nathaniel H. Robin

  • Center for Human Genetics
  • University of Pennsylvania
  • Case Western Reserve University
  • Division of Human and Molecular Genetics
  • University of Alabama at Birmingham
  • Division of Medical Genetics
  • Department of Genetics

External person

Sayed Naqvi

  • Department of Neurology
  • Miami Children's Hospital

External person

Patricia Fergelot

  • CHU de Bordeaux
  • Université de Rennes 1
  • UMR 6290

External person

Herman Hamersma

  • Department of Human Genetics
  • University of Cape Town

External person

Linda Pons

  • Université de Lyon

External person

Dennis W. Bartholomew

  • Nationwide Children’s Hospital

External person

Mohammed A. Saleh

  • Section of Medical Genetics
  • King Fahad Medical City

External person

Francjan van Spronsen

  • University of Groningen

External person

A. Micheil Innes

  • Department of Medical Genetics
  • University of Calgary

External person

Laura Jenkins

  • University of Pittsburgh

External person

Antonie D. Kline

  • Division of Medical Genetics
  • Thomas Jefferson University
  • Greater Baltimore Medical Center
  • Harvey Institute for Human Genetics

External person

Janice L. Smith

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

External person

Karen H. Ørstavik

  • Institute Group of Clinical Medicine
  • University of Oslo

External person

Eva H. Brilstra

  • Department of Genetics
  • Utrecht University

External person

Laura M. Amendola

  • Division of Medical Genetics
  • University of Washington
  • PNW Research Station

External person

Steven Yannicelli

  • Nutricia North America

External person

Marieke F. van Dooren

  • Erasmus University Rotterdam

External person

Jennifer J. Johnston

  • National Institutes of Health

External person

George Dizikes

  • Tennessee Department of Health
  • Illinois Department of Public Health

External person

Linda Ramsdell

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

External person

Xiaofei Song

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

External person

Francina Munell

  • Neuromuscular Unit
  • Autonomous University of Barcelona
  • Department of Pediatric Neurology
  • Vall d'Hebron Research Institute

External person

Seth I. Berger

  • George Washington University
  • National Institutes of Health
  • Children's National Medical Center
  • Medical Genetics Branch

External person

Gill Bejerano

  • Stanford University
  • Center for Biomolecular Science and Engineering
  • University of California at Santa Cruz
  • Stanford

External person

Polly Irwin

  • Cleveland Clinic Foundation

External person

Carolyn M. Lovell

  • Georgia Prevention Institute
  • Medical College of Georgia
  • Augusta University

External person

B. M. Faux

  • United States Army
  • Department of Pediatrics

External person

Øystein Lunde Holla

  • Department of Medical Genetics
  • Sykehuset Telemark

External person

Ben Distel

  • ENCORE Center for Neurodevelopmental Disorders
  • University of Amsterdam
  • Department of Neuroscience
  • Erasmus University Rotterdam
  • Department of Medical Biochemistry
  • Department of Medical Biochemistry

External person

Kenneth Lieberman

  • Rutgers - The State University of New Jersey, Newark

External person

Erika Wesonga

  • BRAINLab
  • Washington University St. Louis

External person

B. H. Graham

  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • Molecular and Human Genetics
  • National Institutes of Health
  • Department of Molecular and Human Genetics
  • Model Organism Screening Center
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Texas Children's Hospital Center for Vaccine Development

External person

Wendy Meschino

  • University of Toronto

External person

Patricia A. Eng

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

External person

Ravi Savarirayan

  • Med. Genetics Birth Defects Center
  • Cedars-Sinai Medical Center
  • University of Melbourne

External person

Damara R. Hamlin

  • United States Army
  • Department of Pediatrics
  • Washington University St. Louis

External person

Christian Gilissen

  • Department of Human Genetics
  • Radboud University Nijmegen

External person

Lois J. Starr

  • Munroe-Meyer Institute for Genetics and Rehabilitation
  • University of Nebraska Medical Center

External person

Christine M. Eng

  • Department of Molecular and Human Genetics
  • Baylor College of Medicine
  • National Institutes of Health
  • Department of Molecular and Human Genetics
  • Model Organism Screening Center
  • Department of Molecular and Human Genetics
  • Baylor Genetics Laboratories
  • Baylor Genetics
  • Baylor Genetics, LLC
  • Membership of the SPARK Consortium Members is Provided in the Acknowledgements
  • BCM

External person

Yu Tao

  • Washington University St. Louis
  • Department of Biostatistics

External person

Ashita Dave-Wala

  • Nationwide Children’s Hospital

External person

Zihan Yan

  • Center for the Investigation of Membrane Excitability Diseases
  • Department of Medicine
  • Washington University St. Louis
  • Department of Medicine
  • Center for Investigation of Membrane Excitability Diseases
  • German Centre for Cardiovascular Research

External person

Mercedes E. Alejandro

  • Baylor College of Medicine
  • Model Organism Screening Center
  • BCM
  • BCM

External person

D. Dobbelaere

  • Universite de Lille 2
  • Université de Lille

External person

A. Shenoy

  • Department of Pathology and Immunology
  • Washington University St. Louis
  • Department of Pathology
  • University of Florida
  • Department of Pathology and Immunology
  • Department of Pathology

External person

Louisa Kalsner

  • Connecticut Children’s Medical Center
  • School of Medicine
  • University of Connecticut
  • School of Medicine
  • University of Connecticut

External person

Gloriosa Go

  • Washington University St. Louis
  • Division of Infectious Diseases
  • Renal Division
  • Renal Division 8126
  • Renal Division

External person

Kelly D. Farwell Gonzalez

  • Ambry Genetics
  • Ambry Genetics

External person

Michael Schneider

  • Department of Pediatrics
  • Division of Medical Genetics

External person

B. R. Olsen

  • Harvard University
  • Departments of Cell Biology and Oral and Developmental Biology
  • Harvard-Forsyth Department of Oral Biology

External person

Christopher Tan

  • The University of Chicago
  • Department of Human Genetics
  • Department of Human Genetics

External person

Justin M. Young

  • The Young Face
  • Facial Plastic and Reconstructive Surgery

External person