Network
Colin Nichols
- Department of Cell Biology & Physiology
- Roy and Diana Vagelos Division of Biology & Biomedical Sciences (DBBS)
- DBBS - Biochemistry, Biophysics, and Structural Biology
- DBBS - Molecular Cell Biology
- DBBS - Neurosciences
- Institute of Clinical and Translational Sciences (ICTS)
- Center for the Investigation of Membrane Excitability Diseases
- Hope Center for Neurological Disorders
Person
Joshua Shimony
- Section of Neuroradiology
- Roy and Diana Vagelos Division of Biology & Biomedical Sciences (DBBS)
- DBBS - Neurosciences
- Institute of Clinical and Translational Sciences (ICTS)
- Brain Tumor Center
- Bursky Center for Human Immunology & Immunotherapy Programs (CHiiPs)
- Intellectual and Developmental Disabilities Research Center (IDDRC)
- Neuroimaging Labs Research Center
- Siteman Cancer Center
Person
Dustin Baldridge
- Division of Genetics and Genomic Medicine
- Roy and Diana Vagelos Division of Biology & Biomedical Sciences (DBBS)
- DBBS - Biomedical Informatics and Data Science
- DBBS - Molecular Genetics and Genomics
- Institute of Clinical and Translational Sciences (ICTS)
- Edison Family Center for Genome Sciences & Systems Biology
- Intellectual and Developmental Disabilities Research Center (IDDRC)
Person
Tamara Hershey
- Department of Psychiatry
- Roy and Diana Vagelos Division of Biology & Biomedical Sciences (DBBS)
- DBBS - Neurosciences
- Division of Clinical Neuroscience and Behavioral Health Research
- Division of Radiological Sciences
- Institute of Clinical and Translational Sciences (ICTS)
- Hope Center for Neurological Disorders
- Intellectual and Developmental Disabilities Research Center (IDDRC)
- Neuroimaging Labs Research Center
Person
Maria Remedi
- Division of Endocrinology, Metabolism & Lipid Research
- Roy and Diana Vagelos Division of Biology & Biomedical Sciences (DBBS)
- DBBS - Developmental, Regenerative and Stem Cell Biology
- DBBS - Molecular Cell Biology
- DBBS - Neurosciences
- Bursky Center for Human Immunology & Immunotherapy Programs (CHiiPs)
- Center for the Investigation of Membrane Excitability Diseases
- Center of Regenerative Medicine
- Hope Center for Neurological Disorders
Person
Christina Gurnett
- Department of Neurology
- Roy and Diana Vagelos Division of Biology & Biomedical Sciences (DBBS)
- DBBS - Molecular Genetics and Genomics
- Division of Pediatric and Developmental Neurology
- Institute of Clinical and Translational Sciences (ICTS)
- Hope Center for Neurological Disorders
- Intellectual and Developmental Disabilities Research Center (IDDRC)
- COVID-19 Researchers
Person
Jin-Moo Lee
- Washington University School of Medicine
- Roy and Diana Vagelos Division of Biology & Biomedical Sciences (DBBS)
- DBBS - Neurosciences
- Department of Neurology
- Institute of Clinical and Translational Sciences (ICTS)
- Bursky Center for Human Immunology & Immunotherapy Programs (CHiiPs)
- Center of Regenerative Medicine
- Hope Center for Neurological Disorders
- Intellectual and Developmental Disabilities Research Center (IDDRC)
Person
Patricia Dickson
- Department of Pediatrics
- Roy and Diana Vagelos Division of Biology & Biomedical Sciences (DBBS)
- DBBS - Molecular Genetics and Genomics
- DBBS - Neurosciences
- Division of Genetics and Genomic Medicine
- Institute of Clinical and Translational Sciences (ICTS)
- Bursky Center for Human Immunology & Immunotherapy Programs (CHiiPs)
- Hope Center for Neurological Disorders
- Intellectual and Developmental Disabilities Research Center (IDDRC)
- Siteman Cancer Center
Person
Tim Schedl
- Department of Genetics
- Roy and Diana Vagelos Division of Biology & Biomedical Sciences (DBBS)
- DBBS - Developmental, Regenerative and Stem Cell Biology
- DBBS - Molecular Genetics and Genomics
- Institute of Clinical and Translational Sciences (ICTS)
- Center of Regenerative Medicine
- Intellectual and Developmental Disabilities Research Center (IDDRC)
- Siteman Cancer Center
Person
Carlos Cruchaga
- Division of Basic Science Research
- Roy and Diana Vagelos Division of Biology & Biomedical Sciences (DBBS)
- DBBS - Biomedical Informatics and Data Science
- DBBS - Human and Statistical Genetics
- DBBS - Molecular Genetics and Genomics
- DBBS - Neurosciences
- Institute of Clinical and Translational Sciences (ICTS)
- McDonnell Genome Institute (MGI)
- Bursky Center for Human Immunology & Immunotherapy Programs (CHiiPs)
- Hope Center for Neurological Disorders
- NeuroGenomics and Informatics Center
- COVID-19 Researchers
Person
Christopher Smyser
- Division of Pediatric and Developmental Neurology
- Roy and Diana Vagelos Division of Biology & Biomedical Sciences (DBBS)
- DBBS - Neurosciences
- Section of Neonatal Neurology
- Institute of Clinical and Translational Sciences (ICTS)
- Intellectual and Developmental Disabilities Research Center (IDDRC)
Person
Sarah England
- Department of Obstetrics & Gynecology
- Roy and Diana Vagelos Division of Biology & Biomedical Sciences (DBBS)
- DBBS - Molecular Cell Biology
- Division of Clinical Research
- Institute for Public Health
- Institute of Clinical and Translational Sciences (ICTS)
- Bursky Center for Human Immunology & Immunotherapy Programs (CHiiPs)
- Center for the Investigation of Membrane Excitability Diseases
- Intellectual and Developmental Disabilities Research Center (IDDRC)
Person
Megan Cooper
- Department of Pediatrics
- Roy and Diana Vagelos Division of Biology & Biomedical Sciences (DBBS)
- DBBS - Human and Statistical Genetics
- DBBS - Immunology
- Division of Rheumatology
- Institute of Clinical and Translational Sciences (ICTS)
- Bursky Center for Human Immunology & Immunotherapy Programs (CHiiPs)
- Rheumatic Diseases Research Resource-Based Center
- Siteman Cancer Center
- COVID-19 Researchers
Person
David Wilson
- Division of Hematology & Oncology
- Roy and Diana Vagelos Division of Biology & Biomedical Sciences (DBBS)
- DBBS - Biochemistry, Biophysics, and Structural Biology
- DBBS - Developmental, Regenerative and Stem Cell Biology
- Institute of Clinical and Translational Sciences (ICTS)
- Siteman Cancer Center
Person
Lilianna Solnica-Krezel
- Washington University School of Medicine
- Roy and Diana Vagelos Division of Biology & Biomedical Sciences (DBBS)
- DBBS - Developmental, Regenerative and Stem Cell Biology
- Department of Developmental Biology
- Institute of Clinical and Translational Sciences (ICTS)
- Center of Regenerative Medicine
- Intellectual and Developmental Disabilities Research Center (IDDRC)
- Siteman Cancer Center
Person
Ta-Chiang Liu
- Division of Anatomic and Molecular Pathology (AMP)
- Roy and Diana Vagelos Division of Biology & Biomedical Sciences (DBBS)
- DBBS - Developmental, Regenerative and Stem Cell Biology
- DBBS - Immunology
- DBBS - Molecular Microbiology and Microbial Pathogenesis
- Institute of Clinical and Translational Sciences (ICTS)
- Bursky Center for Human Immunology & Immunotherapy Programs (CHiiPs)
- Siteman Cancer Center
Person
Gabriel Haller
- Division of Pediatric Neurosurgery
- Roy and Diana Vagelos Division of Biology & Biomedical Sciences (DBBS)
- DBBS - Computational and Systems Biology
- DBBS - Human and Statistical Genetics
- DBBS - Molecular Genetics and Genomics
- DBBS - Neurosciences
- Institute of Clinical and Translational Sciences (ICTS)
- Hope Center for Neurological Disorders
Person
Laura Schuettpelz
- Division of Hematology & Oncology
- Roy and Diana Vagelos Division of Biology & Biomedical Sciences (DBBS)
- DBBS - Developmental, Regenerative and Stem Cell Biology
- DBBS - Immunology
- DBBS - Molecular Genetics and Genomics
- Bursky Center for Human Immunology & Immunotherapy Programs (CHiiPs)
- Center of Regenerative Medicine
- Siteman Cancer Center
Person
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
- Department of Molecular and Human Genetics
- Texas Children's Hospital Houston
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
- IRCCS Istituto Giannina Gaslini - Genova
External person
Bertrand Isidor
- Department of Medical Genetics
- Nantes Université
- Service de Génétique Médicale
- Clinical Genetics Unit
- CHU de Nantes
- Nantes University Hospital
- INSERM UMR-S 957
- L'institut du Thorax
- Nantes Hospital
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 Houston
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
- Harvard University
External person
Jerry Vockley
- University of Pittsburgh
- Mayo Clinic Rochester, MN
- Department of Medical Genetics
- School of Medicine
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
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
- Rutgers - The State University of New Jersey, New Brunswick
- Cell Biology and Physiology
- Center for the Investigation of Membrane Excitability Diseases
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
Eva Morava
- Department of Pediatrics
- Radboud University Nijmegen
- Department of Medical Genetics
- University of Pecs
- Division of Nephrology
- Mayo Clinic Rochester, MN
- Icahn School of Medicine at Mount Sinai
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
- Academic Medical Center (AMC)
- AMC/VUmc IOC Research Center
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
- Stanford Center for Undiagnosed Diseases
External person
Anna Hood
- Department of Psychology
- Washington University St. Louis
- BRAINLab
- Cincinnati Children's Hospital Medical Center
- University College London
- University of Manchester
External person
MARY BETH LEWIS
- Human Genetics Branch
- National Institutes of Health
- Unit on Connective Tissue Disorders
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 Houston
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 Houston
External person
Nicola Longo
- Medical Genetics and Pediatrics
- University of Utah
- Department of Pediatrics
- University of California at Los Angeles
External person
Benjamin Cogné
- Department of Medical Genetics
- Nantes Université
- Institut national de la santé et de la recherche médicale
- Service de Génétique Médicale
- CNRS
- CHU de Nantes
- Nantes University Hospital
- L'institut du Thorax
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
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
- NSW Health Pathology
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
Sébastien Küry
- CHU de Nantes
- Nantes Université
- L'institut du Thorax
- Cancer Council Victoria
- Nantes University Hospital
- Institut national de la santé et de la recherche médicale
External person
Mathilde Nizon
- Nantes Université
- Service de Génétique Médicale
- CNRS
- CHU de Nantes
- Nantes University Hospital
- L'institut du Thorax
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
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
- Seattle Children's Hospital
- University of Utah
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 Houston
- Texas Children's Hospital
External person
Silvia Maitz
- Clinical Pediatric Genetics Unit
- Azienda Ospedaliera San Gerardo Monza
- University of Milan - Bicocca
- Fondazione MBBM
- Ente Ospedaliero Cantonale
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 Houston
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
Janet Thomas
- University of Colorado Denver
- University of Colorado Anschutz Medical Campus
- Cardiff University
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
- University of Washington
External person
Christine Bodemer
- Université Paris 5
- Department of Dermatology
- Université Paris Cité
- Imagine Institute
External person
Eric T. Rush
- Children's Mercy Kansas City
- University of Missouri at Kansas City
- University of Kansas
- Children's Mercy Hospitals and Clinics
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
- Fertility and Reproductive Medicine 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 Houston
- Prince of Wales Hospital Hong Kong
External person
Elizabeth J. Bhoj
- University of Pennsylvania
- Division of Human Genetics
- Center for Applied Genomics
- Clinical Genetics Department
- The Children's Hospital of Philadelphia
External person
Maximilian Muenke
- National Institutes of Health
- Medical Genetics Branch
- Medical Genetics Branch
- Medical Genetics Branch
External person
Jean P. Pfotenhauer
- Vanderbilt University
- Department of Pediatrics
- Department of Pediatrics
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
Katrina M. Dipple
- Department of Human Genetics and Pediatrics
- University of California at Los Angeles
- Division of Genetic Medicine
- Children's Hospital and Regional Medical Center Seattle
- University of Washington
- National Institutes of Health
- Department of Pediatrics
- PNW Research Station
- Brotman Baty Institute for Precision Medicine
- Seattle Children's Hospital
External person
Gerard T. Berry
- Harvard University
- Department of Pediatrics
- Harvard
- Thomas Jefferson University
- Harvard
- Brigham and Women’s Hospital
- Boston Children's Hospital
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
Parith Wongkittichote
- Washington University St. Louis
- University of Pennsylvania
- The Children's Hospital of Philadelphia
- Mahidol University
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
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
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 Houston
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
H. Schneider
- Molecular Genetics Section
- Imperial College London
- Department of Pediatrics
- Friedrich-Alexander University Erlangen-Nürnberg
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
- OPKO Health, 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
Elaina Jurecki
- BioMarin Pharmaceutical Inc.
- Division of Hematology
- Children's Memorial Hospital
- National PKU Alliance
External person
Suneeta Madan-Khetarpal
- Department of Medical Genetics
- University of Pittsburgh
- Baylor College of Medicine
- Human Genome Sequencing Center
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
- Abu Dhabi Health Services Company
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
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
- Mayo Clinic Rochester, MN
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
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
Georgianne L. Arnold
- Department of Pediatrics
- University of Pittsburgh
- Department of Pediatrics
- University of Rochester
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
- Seattle Children's Hospital
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
Ian A. Glass
- University of California at San Francisco
- Department of Pediatrics, Division of Neonatology
- Department of Pediatrics
- PNW Research Station
- University of Washington
- Brotman Baty Institute for Precision Medicine
- Seattle Children's Hospital
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
J. Lawrence Merritt
- Seattle Children's Hospital
- University of Washington
- PNW Research Station
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
Michael J. Griffin
- Harvard University
- Beth Israel Deaconess Medical Center
- Sam Houston State University
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
Sureni V. Mullegama
- University of California at Los Angeles
- Department of Human and Molecular Genetics
- Virginia Commonwealth University
- Clinical Genomics Program
- OPKO Health, Inc.
- Sam Houston State University
External person
John A. Phillips
- Vanderbilt Clinic
- Vanderbilt University
- Vanderbilt Center for Undiagnosed Diseases
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
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
- The Children's Hospital of Philadelphia
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
- University of Texas Health Science Center at Houston
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
Joseph Shen
- Chinese Academy of Medical Sciences
- Department of Orthopedic Surgery
- Department of Medical Genetics and Metabolism
- Children's Hospital 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
- Cell Biology and Physiology
- Center for the Investigation of Membrane Excitability Diseases
External person
Sung Hae L. Kang
- Baylor College of Medicine
- Department of Molecular and Human Genetics
- Allina Health
- 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
- University of Arkansas Medical School
External person
Marisa Vineyard
- Department of Pediatrics
- Washington University St. Louis
- Departments of Pediatrics and Genetics
- Department of Pediatrics
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
- Seattle Children's Hospital
- PNW Research Station
External person
Carlos E. Prada
- Cincinnati Children's Hospital Medical Center
- University of Cincinnati
- Neurology
- Northwestern University
- Fundación Cardiovascular de Colombia
- Children's Memorial Hospital
External person
Thomas Besnard
- Service de Génétique Médicale
- Nantes Université
- CHU de Nantes
- Nantes University Hospital
- L'institut du Thorax
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
Boris Keren
- Département de Génétique
- Assistance publique – Hôpitaux de Paris
- AP-HP
- Sorbonne Université
- Institut national de la santé et de la recherche médicale
- CNRS UMR 7225
- UPMC Univ. Paris 06
- Birmingham Women's and Children's NHS Foundation Trust
External person
Olaf A. Bodamer
- University of Miami
- Division of Genetics and Genomics
- Harvard University
- Boston Children's Hospital
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
G. Bradley Schaefer
- Division of Medical Genetics
- University of Arkansas for Medical Sciences
- University of Arkansas for Medical Sciences
- University of Arkansas Medical School
External person
J. Gecz
- University of Adelaide
- School of Medicine
- South Australian Medical Research Institute
- Healthy Mothers and Babies
- Adelaide Medical School and Robinson Research Institute
- South Australian Health And Medical Research Institute
- Genetics and Molecular Pathology
- Robinson Research Institute
- Women's and Children's Hospital Adelaide
- Genetics and Molecular Pathology
- SA Pathology
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
Dawn S. Peck
- Division of Medical Genetics
- University of Missouri
- Department of Child Health
- Department of Child Health
- Mayo Clinic Rochester, MN
External person
Darius J. Adams
- Pediatric Genetics Group
- Albany Medical College
- Division of Hematology
- Children's Memorial Hospital
- Atlantic Health
External person
John B. Moeschler
- Dartmouth College
- Department of Pediatrics
- Dartmouth-Hitchcock Medical Center
- 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
A. Luisiri
- Washington University St. Louis
- Washington University School of Medicine
- Saint Louis University
- Division of Pediatric Surgery
External person
Carlo L. Marcelis
- Department of Human Genetics
- Radboud University Nijmegen
- Department of Clinical Genetics
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
Rachel Slaugh
- Department of Pediatrics
- Washington University St. Louis
- Department of Pediatrics
- Department of Pediatrics
- Department of Pediatrics
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
Vincenzo Salpietro
- University College London
- IRCCS Istituto Giannina Gaslini - Genova
- Pediatric Neurology and Muscular Diseases Unit
- University of Genoa
- University of L'Aquila
- Department of Biotechnological and Applied Clinical Science University of L’Aquila
External person
Debbie Shears
- Oxford Regional Genetics Service
- Oxford University Hospitals NHS Foundation Trust
- University College London
- Molecular Genetics Unit
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
- Academic Medical Center (AMC)
External person
R. I. Kelley
- University of Pennsylvania
- Biochemical Genetics Laboratory
- Kennedy Krieger Institute
- Department of Pediatrics
- Johns Hopkins University
- Department of Pediatrics
- The Children's Hospital of Philadelphia
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
Andrea Accogli
- McGill University
- Department of Pediatrics
- San Martino Hospital Genoa
- University of Genoa
External person
Julia Wynn
- Columbia University
- Department of Pediatrics and Medicine
- Division of Pediatric Gastroenterology
- Department of Pediatrics
- Department of Pediatrics Medical Center
- Department of Pediatrics
- New York University
- Department of Pediatrics
External person
Bert L. Callewaert
- Ghent University
- Department of Pediatrics
- Washington University St. Louis
- Department of Medical Genetics
- Department of Pediatrics
External person
Danny E. Miller
- Stowers Institute for Medical Research
- University of Kansas
- University of Washington
- Brotman Baty Institute for Precision Medicine
- Seattle Children's Hospital
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
- Cardinal Glennon Children's Hospital
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 Paris Cité
External person
Neil R. Buist
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
- Seattle Children's Hospital
External person
Carol L. Clericuzio
- University of New Mexico
- Department of Pediatrics
- Department of Genetics
- Division of Clinical Genetics/Dysmorphology
External person
Pankaj B. Agrawal
- Harvard University
- Divisions of Genetics and Genomics and Newborn Medicine
- Manton Center for Orphan Disease Research
- Department of Pediatrics
- Division of Newborn Medicine
- Division of Genetics and Genomics
- Harvard
- Harvard
- University of Miami
- Brigham and Women’s Hospital
- Boston Children's Hospital
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
- AiLife Diagnostics
- Vanderbilt University
External person
J. Boyle
- GOLD (Genetics of Learning and Disability) Service
- Hunter Health
- Genetics of Learning Disability Service
- 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
- Centre for Rare Diseases
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
- University of Texas MD Anderson Cancer Center
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
- Meharry Medical College
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
- The Children's Hospital of Philadelphia
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 Houston
- University of Michigan, Ann Arbor
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
- Genomics and Pathology Services
External person
Ange Line Bruel
- Université de Bourgogne
- Université de Bourgogne- Franche Comté
- UF Innovation en diagnostic genomique des maladies rares
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
Megan T. Cho
- GeneDX Inc
- National Institutes of Health
- Columbia University
- Department of Pediatrics
- New York University
- Department of Pediatrics
- OPKO Health, Inc.
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 Houston
- Illumina, 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
- Memorial Hermann Healthcare System
- Brigham and Women’s Hospital
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
- BCM
External person
Kwame Anyane-Yeboa
- Columbia University
- Department of Pediatrics
- New York University
- Department of Pediatrics
External person
Cyril Mignot
- AP-HP
- Sorbonne Université
- CNRS UMR 7225
- Institut national de la santé et de la recherche médicale
- Centre de Référence Déficiences Intellectuelles de Causes Rares
- UPMC Univ. Paris 06
- Hôpital Armand Trousseau
- Assistance publique – Hôpitaux de Paris
- Centre de Référence Déficiences Intellectuelles de Causes Rares
External person
Julie Hoover-Fong
- Greenberg Center for Skeletal Dysplasias
- McKusick-Nathans Institute of Genetic Medicine
- Department of Pediatrics
- Johns Hopkins University
- Department of Pediatrics
- McKusick Nathans Institute of Genetic Medicine
- Greenberg Center for Skeletal Dysplasias
External person
Scott E. Hickey
- Division of Molecular and Human Genetics
- National Institutes of Health
- Nationwide Children’s Hospital
- Department of Pediatrics
- Department of Pediatrics
- Ohio State University
External person
Stephanie E. Vallee
- Dartmouth College
- Dartmouth-Hitchcock Medical Center
- Dartmouth-Hitchcock Medical Center
External person
David A. Stevenson
- Division of Medical Genetics
- University of Utah
- Department of Pediatrics
- Department of Pediatrics
- Shriners Hospitals for Children
- Lucille Packard Children's Hospital
- Baylor College of Medicine
- Human Genome Sequencing Center
- Stanford University
External person
Kathleen T. Swan
- University of South Florida
- Division of Hematology
- Children's Memorial Hospital
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
- Department of Pathology
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
- Human Genetics
- Harvard University
External person
Robert W. Taylor
- Newcastle University
- Newcastle upon Tyne Hospitals NHS Foundation Trust
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
- Dartmouth-Hitchcock Medical Center
External person
Uta Lichter-Konecki
- George Washington University
- Department of Pediatrics
- University of Pittsburgh
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
Karen W. Gripp
- Baylor College of Medicine
- Human Genome Sequencing Center
- Alfred I. duPont Hospital for Children
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
Margaret P. Adam
- Division of Genetic Medicine
- University of Washington
- Children's Hospital and Regional Medical Center Seattle
- Department of Pediatrics
- PNW Research Station
- Seattle Children's Hospital
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
Joseph T. Alaimo
- Virginia Commonwealth University
- Baylor College of Medicine
- Children's Mercy Kansas City
- Children's Mercy Hospitals and Clinics
- University of Missouri at Kansas City
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 Houston
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
Sarju G. Mehta
- East Anglian Medical Genetics Service
- Cambridge University Hospitals NHS Foundation Trust
- Harvard University
- East Anglian Medical Genetics Service
- Division of Genetics
- Division of Genetics and Metabolism
- Boston Children's Hospital
External person
Jill Clayton-Smith
- Manchester Centre for Genomic Medicine
- University of Manchester
- Imperial College Healthcare NHS Trust
- Saint Mary's Hospital
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 Houston
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
Lauren Hitchins
- Children's Memorial Hospital
- Northwestern University
- Division of Hematology
External person
Jennifer Burton
- Department of Pediatrics
- University of Illinois at Chicago
- OSF St. Francis Hospital and Children's Hospital of Illinois
External person
Julie Vogt
- Birmingham Women's and Children's NHS Foundation Trust
- West Midlands Regional Genetics Service
External person
Koen L.I. van Gassen
- Utrecht University
- Department of Metabolic Diseases
- Department of Genetics
External person
Kendra Engleman
- University of Missouri at Kansas City
- Children's Mercy Hospitals and Clinics
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
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
Min Lee Yang
- University of Michigan, Ann Arbor
- Department of Internal Medicine
- Howard Hughes Medical Institute
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
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
Amal AlHashem
- Department of Anatomy and Cell Biology
- Alfaisal University
- Prince Sultan Military Medical City
External person
Melissa A. Ploeg
- ENCORE Center for Neurodevelopmental Disorders
- Department of Neuroscience
- Erasmus University Rotterdam
External person
Jessica Douglas
- Divisions of Genetics
- Harvard University
- Division of Genetics and Genomics
- Boston Children's Hospital
External person
Monica H. Wojcik
- Department of Pediatrics
- Harvard University
- Broad Institute
- Boston Children's Hospital
External person
Alan H. Beggs
- Harvard University
- National Institutes of Health
- UDN Coordinating Center
- Harvard
- Harvard
- Brigham and Women’s Hospital
- Boston Children's Hospital
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
- Seattle Children's Hospital
External person
Uma M. Reddy
- National Institutes of Health
- Pregnancy and Perinatology Branch
- Yale University
- Thomas Jefferson University
- Washington University St. Louis
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
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
- Nantes Université
- Service de Génétique Médicale
- CHU de Nantes
- Nantes University Hospital
External person
Catharine Harris
- Division of Medical Genetics
- University of Missouri at St. Louis
- University of Missouri
External person
Alberto Fernández-Jaén
- Hospital Universitario Quirón Madrid
- Universidad Europea de Madrid
- Universidad Europea
External person
Sander Pajusalu
- Department of Clinical Genetics
- Department of Clinical Genetics
- University of Tartu
- Department of Genetics
- Yale University
- Broad Institute
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
Pier Luigi Calvo
- Azienda Ospedaliera - Universitaria Città della Salute e della Scienza di Torino
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
N. Sonenberg
- Microbiology/Immunology Department
- University of Michigan, Ann Arbor
- McGill University
- Department of Biochemistry
- Department of Biochemistry
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
- Duke
- Duke Nashville
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
Joseph D. Symonds
- Royal Hospital for Sick Children Glasgow
- NHS Greater Glasgow and Clyde
External person
Yufeng Huang
- Molecular Cytogenetics Laboratory
- Cardinal Glennon Children's Hospital
- Cardinal Glennon Children’s Hospital
- Molecular Cytogenetics Laboratory
- Washington University St. Louis
- Cardinal Glennon Children's Hospital
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
- Centre Hospitalier Régional Universitaire de Tours
External person
Bin Zhang
- Department of Pathology and Immunology
- Washington University St. Louis
- University of Rochester
External person
Christina Luedke
- Division of Endocrinology
- Harvard University
- Boston Children's Hospital
External person
H. Najmabadi
- Genetics Research Center
- University of Social Welfare and Rehabilitation Sciences
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
Cornelis Jakobs
- Metabolic Unit
- Vrije Universiteit Amsterdam
- AMC/VUmc IOC Research Center
External person
Robert J. Gorlin
- Department of Oral Biology and Genetics
- University of Minnesota Twin Cities
- Fairview Health Service
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
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
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
- Nantes Université
- CHU de Nantes
- Nantes University Hospital
- L'institut du Thorax
External person
F. Hennig
- Research Group Development and Disease
- Max Planck Institute for Molecular Genetics
External person
Mattia Bosio
- Centre for Genomic Regulation (CRG)
- Pompeu Fabra University
- The Barcelona Institute of Science and Technology
- Barcelona Supercomputing Center
- Centre for Genomic Regulation
External person
Klaas J. Wierenga
- Department of Pediatrics and
- University of Oklahoma
- Department of Pediatrics
- Mayo Clinic Jacksonville, FL
External person
Jan Smeitink
External person
David K. Manchester
- Clinical Genetics and Metabolism
- Children's Hospital
- Clinical Genetics and Metabolism
- Children's Hospital
External person
Xiao Long Zhou
- CAS - Shanghai Institute of Biochemistry and Cell Biology
- CAS - Center for Excellence in Molecular Cell Science
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
- Massachusetts General Hospital
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
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
Stanley H. Korman
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
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
- Meyer Children's Hospital IRCCS
- Universidade Estadual de Campinas
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
Antonio Pizzol
- Azienda Ospedaliera - Universitaria Città della Salute e della Scienza di Torino
External person
Anna F. Lee
- Department of Pathology and Laboratory Medicine
- University of British Columbia
- Canada's Michael Smith Genome Sciences Centre
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
- Greenwood Genetic Center
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 Houston
External person
Sandra Whalen
- Unité Fonctionnelle de génétique clinique
- Hôpital Armand Trousseau
- Sorbonne Université
- Assistance publique – Hôpitaux de Paris
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, Phoenix
- 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
- St. Joseph's Regional Medical Center, Paterson
- Mount Sinai Hospital of University of Toronto
- The Children's Hospital of Philadelphia
- Boston Children's Hospital
- Albert Einstein College of Medicine
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
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
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
- OPKO Health, Inc.
- Invitae Corporation
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
- University of Colorado Anschutz Medical Campus
- Prince of Wales Hospital Hong Kong
External person
Olivier Pichon
- Service de Génétique Médicale
- Nantes Université
- 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
- University of Texas MD Anderson Cancer Center
- University of Toronto
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
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
- AMC/VUmc IOC Research Center
- Academic Medical Center (AMC)
External person
Monica Davis
- University of Arkansas for Medical Sciences
- University of Arkansas Medical School
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
Leslie L. Harris
- Department of Pediatrics
- Baylor College of Medicine
- Texas Children's Hospital Houston
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
- Boston Children's Hospital
- Massachusetts General Hospital
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
Zeynep Tümer
- Kennedy Center
- Deparment of Clinical Medicine
- Kennedy Institute - National Eye Clinic
- University of Copenhagen
- Department of Clinical Medicine
External person
Szabolcs Szelinger
- Translational Genomics Research Institute
- Neurogenomics Division
- Translation Genomic Research Institute
- Division of Neurogenomics
- TGen
External person
Albert David
- Nantes Université
- 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
- Washington University St. Louis
External person
Bruce Bennetts
- Western Sydney Genetics Program
- University of Sydney
- Disciplines of Genetic Medicine and Pediatric and Child Health
- The Children's Hospital at Westmead
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
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
Alberto B. Burlina
- Azienda Ospedaliera di Padova
- University of Padua
- Department of Pediatrics
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 Houston
External person
Meghan C. Towne
- Harvard University
- Manton Center for Orphan Disease Research
- Division of Genetics and Genomics
- Ambry Genetics
- Boston Children's Hospital
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 Houston
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
- Children's Hospital and Regional Medical Center Seattle
- Brotman Baty Institute for Precision Medicine
- Seattle Children's Hospital
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
Angus Clarke
- Betsi Cadwaladr University Health Board
- Institute of Medical Genetics
- Cardiff & Vale University Health Board
- Department of Clinical Genetics
- Cardiff University
- University Hospital of Wales
External person