Network
Elizabeth Wohler
- Kennedy Krieger Institute
- Johns Hopkins University
- Hugo Moser Institute at Kenney Krieger
- McKusick-Nathans Institute of Genetic Medicine
- Cytogenetics Laboratory
- Department of Genetics
- Department of Cytogenetics
- Department of Pathology
- Department of Genetics
- Institute of Genetic Medicine
- Baylor-Hopkins Center for Mendelian Genomics
External person
A. Perez
- Universidade Federal de São Paulo
- Clinical Genetics Center
- Centro de Genetica Medica
- Medical Genetics Institute
- Medical Genetics Center
External person
J. R. Lupski
- Johns Hopkins University
- Baylor College of Medicine
- Dept. of Molec. and Human Genetics
- Department of Pediatrics
- Texas Children's Hospital
- Dept. of Molec. and Human Genetics
- Department of Pediatrics
- Department of Molecular and Human Genetics
- Department of Molecular and Human Genetics
- Department of Pediatrics
- Human Genome Sequencing Center
- Institute for Molecular Genetics
- Department of Molecular and Human Genetics
- Department of Molecular Genetics
- Department of Pediatrics
- Department of Pediatrics
- Texas Children's Hospital
- Section of Neonatology
- Texas Children's Hospital Houston
External person
Shalini N. Jhangiani
- Baylor College of Medicine
- Department of Molecular and Human Genetics
- Human Genome Sequencing Center
External person
Decio Brunoni
- Universidade Federal de São Paulo
- Medical Genetics Center
- Medical Genetics Institute
- Centro de Genetica Medica
- Department of Morphology
- Clinical Genetics Center
- Departamentos de Morfologia e de Pediatria
External person
Jennifer E. Posey
- Baylor College of Medicine
- Department of Molecular and Human Genetics
- National Institutes of Health, Bethesda
External person
Zeynep H. Coban Akdemir
- Baylor College of Medicine
- Department of Molecular and Human Genetics
- University of Texas Health Science Center at Houston
External person
Julie Jurgens
- Johns Hopkins University
- School of Medicine
- McKusick-Nathans Institute of Genetic Medicine
- Predoctoral Program in Human Genetics
- McKusick-Nathans Institute of Genetic Medicine
- Predoctoral Training Program in Human Genetics
- Johns Hopkins Oncology Centre
External person
Hua Ling
- Johns Hopkins University
- University of Maryland, Baltimore
- McKusick-Nathans Institute of Genetic Medicine
- Center for Inherited Disease Research
- Center for Inherited Disease Research
- Division of Endocrinology, Diabetes and Nutrition
- School of Medicine
- Center for Inherited Disease Research
External person
Jing You
- Johns Hopkins University
- Institute of Genetic Medicine
- School of Medicine
- Predoctoral Program in Human Genetics
- Predoctoral Training Program in Human Genetics
External person
Jessica X. Chong
- University of Washington
- Department of Pediatrics
- Division of Pulmonary and Sleep Medicine
- Brotman Baty Institute for Precision Medicine
- Seattle Children's Hospital
External person
M. Cernach
- Universidade Federal de São Paulo
- Centro de Genetica Medica
- Lab. de Endocrinologia Molecular
- Department of Morphology
- Medical Genetics Center
- Universidade Metropolitana de Santos
External person
Richard A. Gibbs
- University of British Columbia
- Baylor College of Medicine
- National Cancer Institute United States
- Department of Epidemiology
- Broad Institute
- Greater Baltimore Medical Center
- Texas Children s Feigin Center
- Human Genome Sequencing Center
- Human Genome Sequencing Center
- Department of Epidemiology
- Canada's Michael Smith Genome Sciences Centre
- Department of Molecular and Human Genetics
- Human Genome Sequencing Center
- Department of Molecular and Human Genetics
- Division of Abdominal Transplantation
- Cancer Genome Atlas Program Office
- National Institutes of Health
- Department of Human Genetics
- Texas Cancer Research Biobank (TCRB)
- Milton J Dance Head and Neck Center
- Dept. of Molec. and Human Genetics
- Departments of Molecular and Human Genetics
- Department of Epidemiology
- Greater Baltimore Medical Center
- Massachusetts Institute of Technology
- British Columbia Cancer Agency
- Membership of the SPARK Consortium Members is Provided in the Acknowledgements
- University of Pennsylvania
- Mayo Clinic Rochester, MN
- Baylor University
- Ontario Institute for Cancer Research
External person
Richard M. Pauli
- University of Wisconsin-Madison
- Children's National Medical Center
- National Institutes of Health
- University of Houston
- Department of Pediatrics
- Department of Pediatrics
- Department of Medical Genetics
- Department of Medical Genetics
- Department of Pediatrics
- Department of Biology
- Depts. of Pediat. and Med. Genetics
- Midwest Regional Bone Dysplasia Clinic
- Department of Medical Genetics
- Johns Hopkins University
External person
Kurt Hetrick
- Johns Hopkins University
- Center for Inherited Disease Research
- Center for Inherited Disease Research
- School of Medicine
- McKusick-Nathans Institute of Genetic Medicine
- McKusick-Nathans Institute of Genetic Medicine
- Center for Inherited Disease Research
External person
Nan Wu
- Department of Orthopedic Surgery
- Medical Research Center of Orthopedics
- Chinese Academy of Medical Sciences
- Peking Union Medical College
- Department of Molecular and Human Genetics
- Baylor College of Medicine
- Beijing Key Laboratory for Genetic Research of Skeletal Deformity
External person
Michele P. Migliavacca
- Universidade Federal de São Paulo
- Clinical Genetics Center
- DASA
- Johns Hopkins University
External person
Azeez Butali
- Department of Pediatrics
- University of Iowa
- Department of Oral Pathology
- Department of Pediatrics
- Department of Oral Pathology Radiology and Medicine
External person
Tamara Busch
- University of Iowa
- Department of Pediatrics
- Department of Orthodontics
- Department of Pediatrics
- Department of Orthodontics
External person
C. L. Raggio
- Hospital for Special Surgery - New York
- Research Division
- Department of Orthopedic Surgery
- Department of Orthopedic Surgery
- Hospital for Special Surgeries
External person
V. Reid Sutton
- Baylor College of Medicine
- Department of Molecular and Human Genetics
- Dept. of Molec. and Human Genetics
- Baylor Genetics, LLC
- Texas Children's Hospital Houston
External person
C. Antonescu
- Johns Hopkins University
- Institute of Genetic Medicine
- Division of General Internal Medicine
External person
Michael J. Bamshad
- University of Washington
- Division of Medical Genetics
- Department of Pediatrics
- Brotman Baty Institute for Precision Medicine
- Division of Genetic Medicine
- Seattle Children's Hospital
External person
Peggy Modaff
- University of Wisconsin-Madison
- Department of Pediatrics
- Midwest Regional Bone Dysplasia Clinic
External person
Shrikant M. Mane
- Yale Center for Genome Analysis
- Yale University
- University of South Florida
- Yale Center for Mendelian Genomics
- Yale Center for Genome Analysis
- Yale Center for Genome Analysis
- School of Medicine
- Department of Genetics
- Dept. of Obstetrics and Gynecology
- Keck Foundation Biotechnology Resource Laboratory
- Department of Interdisciplinary Oncology and Microarray Core Facility
- Departments of Child Psychiatry and Genetics
- Department of Genetics
- School of Medicine
- Yale Center for Genome Analysis
- Yale Center for Genome Analysis
- University of Maryland, Baltimore
- Division of Occupational Medicine
- Johns Hopkins University
- University of Maryland Medical System
External person
Salma Ben-Salem
- United Arab Emirates University
- Department of Pathology
- Department of Paediatrics
- Department of Pathology
- Department of Pediatrics
- Al Ain University of Science and Technology
External person
Robert D. Blank
- VA Medical Center
- Medical College of Wisconsin
- University of Wisconsin-Madison
- Geriatric Research
- Department of Medicine
- Division of Endocrinology
- Department of Veterans Affairs
- Milwaukee VA Medical Center
External person
Francesc López-Giráldez
- Yale University
- Yale Center for Genome Analysis
- Department of Genetics
- Yale Center for Genome Analysis
- School of Medicine
External person
Lihadh Al-Gazali
- United Arab Emirates University
- Department of Paediatrics
- Department of Pediatrics
- Department of Paediatrics
External person
Carlos Eduardo Speck-Martins
- Department of Clinical Genetics
- Medical Genetic UnitSARAH Network of Rehabilitation HospitalsBrasilia-DF
- Rede Sarah de Hospitals
- Rede SARAH de Hospitais de Reabilitação
External person
Peter Donkor
- Kwame Nkrumah University of Science and Technolog
- Kwame Nkrumah University of Science and Technology
- Department of Surgery
- University of Dundee
- Kumasi Centre for Collaborative Research in Tropical Medicine
External person
Wendy A. Gold
- University of Sydney
- Discipline of Paediatrics and Child Health
- Western Sydney Genetics Program
- Western Sydney Genetics Program
- Discipline of Child and Adolescent Health
- Genetic Metabolic Disorders Research Unit
- Genetic Metabolic Disorders Research Unit
- The Children's Hospital at Westmead
External person
Bassam R. Ali
- United Arab Emirates University
- Department of Pathology
- Department of Paediatrics
- Department of Pathology
- Department of Pediatrics
- Al Ain University of Science and Technology
External person
Robert D. Steiner
- University of Wisconsin-Madison
- Oregon Health and Science University
- Departments of Pediatrics and Molecular and Medical Genetics
- Departments of Pediatrics and Molecular and Medical Genetics
- Depts. of Pediat./Molec./Med. Genet.
- Institute on Development and DisabilityOregon Health and Science UniversityPortland
- Pediatrics and Molecular and Medical Genetics
- University of Wisconsin-Stevens Point
- Marshfield Clinic
External person
J. Christodoulou
- University of Sydney
- University of Melbourne
- Departments of Paediatr. and C.
- Western Sydney Genetics Program
- Department of Discipline of Paediatrics and Child Health
- Disciplines of Paediatrics and Child Health and Genetic Medicine
- Murdoch Children's Research Institute
- Discipline of Child and Adolescent Health
- Neurodevelopmental Genomics Research Group
- Genetic Metabolic Disorders Research Unit
- Children's Hospital Westmead
- Discipline of Paediatrics and Child Health
- Royal Children's Hospital
- The Children's Hospital at Westmead
- Victorian Clinical Genetics Services
External person
Sarah Robbins
- Johns Hopkins University
- Molecular Biology and Genetics
- McKusick-Nathans Institute of Genetic Medicine
- Predoctoral Program in Human Genetics
- McKusick-Nathans Institute of Genetic Medicine
External person
Sen Zhao
- Department of Orthopedic Surgery
- Peking Union Medical College
- Beijing Key Laboratory for Genetic Research of Skeletal Deformity
- Chinese Academy of Medical Sciences
- Baylor College of Medicine
External person
Orion J. Buske
- University of Toronto
- Centre for Computational Medicine
- Department of Computer Science
- Genetics and Genome Biology
- University of Washington
- PhenoTips
External person
Claudia Berlim de Mello
- Universidade Federal de São Paulo
- Department of Imaging Diagnosis
External person
Philip F. Giampietro
- University of Wisconsin-Madison
- Marshfield Clinic
- St. Christopher's Hospital for Children Philadelphia
- Department of Pediatrics
- Drexel University
- Department of Pediatrics
- Center for Human Genetics
- St. Christopher's Hospital for Children
- Rutgers - The State University of New Jersey, New Brunswick
- University of Illinois at Chicago
External person
Steven Buyske
- Rutgers - The State University of New Jersey, New Brunswick
- Leipzig University
- Department of Statistics and Biostatistics
- Department of Genetics
- Department of Statistics
- Integrated Research and Treatment Center (IFB) Adiposity Diseases
- Department of Statistics
- University of North Carolina at Chapel Hill
- Department of Medicine
- Rutgers University
External person
Debora Bertola
- Universidade de São Paulo
- Department of Pediatrics
- Unidade de Genética
- Renal Transplantation Service of the Urology Division
External person
Lisa G. Riley
- University of Sydney
- Discipline of Paediatrics and Child Health
- Western Sydney Genetics Program
- Western Sydney Genetics Program
- Discipline of Child and Adolescent Health
- Genetic Metabolic Disorders Research Unit
- Genetic Metabolic Disorders Research Unit
- The Children's Hospital at Westmead
External person
Sean Griffith
- Center for Inherited Disease Research
- Johns Hopkins University
- Center for Inherited Disease Research
External person
Anne M. Slavotinek
- University of California at San Francisco
- National Cancer Institute United States
- National Institutes of Health
- Medical Genetics Branch
- Department of Pediatrics
- Cincinnati Children's Hospital Medical Center
- University of Cincinnati
External person
Kaya Bilguvar
- Yale University
- Department of Genetics
- Departments of Child Psychiatry and Genetics
- Yale Center for Genome Analysis
- Department of Genetics
- Yale Center for Genome Analysis
- Yale Center for Genome Analysis
- School of Medicine
External person
Tara C. Matise
- Rutgers - The State University of New Jersey, New Brunswick
- Columbia University
- Johns Hopkins University
- University of Pittsburgh
- Rockefeller University
- Klinikum GroBhadern
- Department of Genetics
- Laboratory of Statistical Genetics
- Departments of Psychiatry and Human Genetics
- Department of Psychiatry
- Department of Human Genetics
- Department of Molecular Genetics and Biochemistry
- Department of Psychiatry
- Department of Human Genetics
- Department of Human Genetics
- Department of Psychiatry
- Institute of Genetic Medicine
- Departments of Psychiatry
- Department of Human Genetics
- Kennedy Institute - National Eye Clinic
- Department of Medical Genetics
- Ludwig Maximilian University of Munich
External person
Wasiu L. Adeyemo
- Department of Oral and Maxillofacial Surgery
- University of Lagos
- Department of Oral and Maxillofacial Surgery
External person
Melissa A. Haendel
- Oregon Health and Science University
- Department of Medical Informatics and Clinical Epidemiology
- Oregon State University
- Center for Data to Health
- Department of Environmental and Molecular Toxicology
- Monarch Initiative
- TriNetX
- University of Colorado Anschutz Medical Campus
- University of Colorado Denver
- Monarch Initiative
- NIH
- National Institutes of Health, Bethesda
- Johns Hopkins University
External person
Adebowale Adeyemo
- National Institutes of Health
- University of Oxford
- National Human Genomic Research Institute
- National Human Genomic Research Institute
- National Human Genomic Research Institute
External person
Heidi L. Rehm
- Harvard University
- Partners HealthCare
- Broad Institute
- Department of Pathology
- Laboratory for Molecular Medicine
- Department of Pathology
- Analytic and Translational Genetics Unit
- Program in Medical and Population Genetics
- Center for Genomic Medicine
- Medical and Population Genetics
- Department of Pathology
- Brigham and Women's Hospital and Harvard Medical School
- Massachusetts General Hospital
- Brigham and Women's Hospital
External person
Eric Boerwinkle
- University of Texas Health Science Center at Houston
- Human Genetics Center
- Baylor College of Medicine
- Harvard University
- Division of Endocrinology and Center for Basic and Translational Obesity Research
- Human Genome Sequencing Center
- Human Genetics Center
- Department of Epidemiology
- Baylor College of Medicine
- Department of Epidemiology
- Human Genetics Center
- School of Public Health
- Vanderbilt University
- Fred Hutchinson Cancer Research Center
- National Institutes of Health
- University of Michigan, Ann Arbor
- National Institutes of Health, Bethesda
- University of Texas
- Human Genome Sequencing Center
- Boston University
- University of Washington
External person
Gunnar Houge
- University of Bergen
- Norwegian University of Science and Technology
- Center for Medical Genetics and Molecular Medicine
- Department of Medical Genetics
External person
D. Markie
- University of Otago
- Cancer Research UK
- Department of Clinical Genetics
- Royal Free School of Medicine
- Department of Pathology
- University College London
- Dunedin School of Medicine
- University of Oxford
- Western General Hospital
External person
Arthur A M Wilde
- University of Amsterdam
- Princess Al-Jawhara Al-Brahim Centre of Excellence in Research of Hereditary Disorders
- Vanderbilt University
- Department of Cardiology
- Heart Failure Research Center
- Transgenomic Inc.
- Department of Anesthesiology
- Department of Clinical Genetics
- Centre of Excellence in Research of Hereditary Disorders
- Amsterdam UMC
- Academic Medical Center
- European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN GUARD-Heart)
- Columbia University
- Department of Medicine
- Amsterdam UMC
- Department of Clinical and Experimental Cardiology
- Department of Clinical Genetics
- Strangeways Research Laboratory
- Department of Public Health and Primary Care
- Amsterdam UMC
- Academic Medical Center
- Erasmus University Rotterdam
External person
Bart Loeys
- Ghent University
- University of Antwerp
- ETZ Elisabeth
- Johns Hopkins University
- Radboud University Nijmegen
- Centre for Medical Genetics
- Center of Medical Genetics
- Institute of Genetic Medicine
- McKusick-Nathans Institute of Genetic Medicine
- Center of Medical Genetics
- Department of Pathology
- c/o Elaine P. Henze, BJ, ELS, Medical Editor
- Department of Medical Genetics
- McKusick-Nathans Institute of Genetic Medicine
- Department of Human Genetics
- Faculty of Medicine and Health Sciences
- Department of Pediatrics
- Department of Pediatrics and Genetics
- Department of Medical Genetics
- Department of Medical Genetics
- Department of Genetics
- Department of Medical Genetics
- Centre for Medical Genetics
- Institute for Genetic and Metabolic Disorders
- Center of Medical Genetics
- Department of Orthopaedic Surgery
External person
Jane Juusola
- GeneDx
- GeneDx
- GeneDx
- GeneDX
- GeneDx
- GeneDx
- GeneDx
- Whole Exome Sequencing Program
- GeneDx
- GeneDx
- GeneDx
- GeneDx
- GeneDx
- GeneDX
- GeneDx
- GeneDX
- GeneDx
- GeneDX
- GeneDx
- GeneDX
- GeneDx
- GeneDX
- GeneDx
- GeneDX
- GeneDx
- GeneDX
- GeneDx
- GeneDX
- GeneDx
- GeneDX
- GeneDx
- GeneDX
- GeneDx
- GeneDX
- GeneDx
- GeneDX
- GeneDx
- GeneDX
- GeneDx
- GeneDX
- GeneDx
- GeneDX
- GeneDx
- GeneDX
- GeneDx
- GeneDX
- GeneDx
- GeneDX
- GeneDx
- GeneDX
- GeneDx
- GeneDX
- GeneDx
- GeneDX
- GeneDx
- GeneDX
- GeneDx
- GeneDX
- GeneDx
- GeneDX
- GeneDx
- GeneDX
- GeneDx
- GeneDX
- GeneDx
- GeneDX
- GeneDx
- GeneDX Inc
- Columbia University
- OPKO Health, Inc.
External person
Elizabeth T. Cirulli
- Duke University
- Human Longevity Inc.
- Center for Human Genome Variation
- Center for Human Genome Variation
- Human Longevity, Inc.
- Helix Inc.
- Center for Human Genome Variation
- Duke Center for Applied Genomics and Precision Medicine
- Helix
External person
Helen V. Firth
- Addenbrooke's Hospital
- Cambridge University Hospitals NHS Foundation Trust
- Wellcome Sanger Institute
- Consultant Clinical Geneticist
- East Anglian Medical Genetics Service
- Department of Medical Genetics
- Wellcome Trust
External person
Mary L. Marazita
- University of Pittsburgh
- National Institutes of Health, Bethesda
- Department of Human Genetics
- Virginia Commonwealth University
- Carnegie Mellon University
- Faculty of Dentistry
- Cellomics/Bridgeside Point Building
- Center for Craniofacial and Dental Genetics
- Department of Oral Biology
- Department of Human Genetics
- Department of Human Genetics
- School of Medicine
- Department of Psychiatry
- Department of Oral Biology
- Center for Craniofacial and Dental Genetics
- Department of Human Genetics
- Department of Oral Biology
- Ctr. for Craniofac. and Dent. Genet.
- Ctr. for Craniofacial/Dental Genet.
- Department of Biological Sciences
- Department of Oral Biology and Center for Craniofacial and Dental Genetics
- Department of Orthodontics
- Department of Oral Biology
- CEDAR
- Department of Oral and Maxillofacial Surgery
- School of Dental Medicine
- Aichi Gakuin University
- Faculty of Psychological and Physical Science
- Department of Psychiatry
- Department of Human Genetics
- Center for Craniofacial and Dental Genetics
- Department of Psychiatry
- Department of Oral Biology
- School of Dental Medicine
- Center for Craniofacial and Dental Genetics
- Department of Oral and Maxillofacial Surgery
- School of Dental Medicine
- Department of Human Genetics
- Cleft Palate-Craniofacial Center
- Department of Human Genetics
- Department of Pharmaceutical Sciences
- Department of Human Genetics
- Clinical and Translational Neuroscience Institute
- Department of Oral Biology
- Division of Oral Biology
- Department of Oral and Maxillofacial Surgery
- Center for Education and Drug Abuse Research
- Department of Human Genetics
- Department of Oral Biology
- Division of Oral Biology
- School of Dental Medicine
- Department of Human Genetics
- Center for Oral Health Research in Appalachia
- West Virginia University
- Center for Oral Health Research in Appalachia
- Department of Human Genetics
- Center for Craniofacial and Dental Genetics
- Dept. of Human Genetics
- Department of Human Genetics
- School of Medicine
External person
Salmo Raskin
- Genetika-Centro de Aconselhamento e Laboratório de Genética
- Pontifícia Universidade Católica do Paraná
- Vanderbilt University
- Universidade Federal do Paraná
External person
Anders Franco-Cereceda
- Karolinska Institutet
- Department of Molecular Medicine and Surgery
- Department of Molecular Medicine and Surgery
- Department of Medicine
External person
Carolina Montano
- Johns Hopkins University
- Center for Epigenetics
- Predoctoral Training Program in Human Genetics
- Division of Pulmonary and Critical Care
- Division of Infectious Diseases
- Predoctoral Program in Human Genetics
- Medical Scientist Training Program
- Harvard University
- Department of Medicine
- National Institutes of Health
- Boston Children's Hospital
External person
John C. Carey
- Johns Hopkins University
- University of Utah
- Utah Department of Health
- Department of Pediatrics
- Department of Pediatrics
- Pediatrics (Medical Genetics)
External person
J. G. Gleeson
- University of California at San Diego
- Harvard University
- Institute for Genomic Medicine
- Rockefeller University
- Howard Hughes Medical Institute
- New York Genome Center
- Department of Neuroscience
- Laboratory of Pediatric Brain Disease
- Department of Neurology
- Department of Neurology
- Institute for Genomic Medicine
- Department of Neuroscience
- Rady Children's Hospital
- Rady Children’s Institute for Genomic Medicine
- Beth Israel Deaconess Medical Center
- Boston Children's Hospital
External person
Marta Girdea
- University of Toronto
- Department of Computer Science
- Centre for Computational Medicine
External person
M. Gerstein
- Yale University
- Stanford University
- Medical Research Council
- Extracellular RNA Communication Consortium (ERCC)
- Department of Computer Science
- Program in Computational Biology and Bioinformatics
- Department of Molecular Biophysics and Biochemistry
- Department of Molecular Biophysics and Biochemistry
- Dept. of Molec. Biophys./Biochem.
- Department Molecular Biophysics
- Dept. of Molec. Cell./Devmtl. Biol.
- Departments of Computer Science
- Department of Biophysics and Biochemistry
- Dept of Comput Sci, Yale Univ, New
- MB and B Department
- Program in Computational Biology and Bioinformatics
- Department of Molecular Cellular
- Department of Molecular Biophysics and Biochemistry
- Department of Statistics and Data Science
- Department of Computational Biology and Bioinformatics
- Princeton University
- University of California at Santa Cruz
- University of Melbourne
- Peter Maccallum Cancer Centre
- Pennsylvania State University
External person
Kevin V. Shianna
- Duke University
- Center for Human Genome Variation
- Center for Human Genome Variation
- Genomic Analysis Facility
- Center for Human Genome Variation
- Institute for GenomeSciences and Policy
- Department of Medicine
- Illumina, Inc.
External person
Sally L. Dunwoodie
- Victor Chang Cardiac Research Institute
- University of New South Wales
External person
Jianxiong Shen
- Department of Orthopedic Surgery
- Peking Union Medical College
- Chinese Academy of Medical Sciences
- Beijing Key Laboratory for Genetic Research of Skeletal Deformity
External person
Samia Temtamy
- National Research Center
- Johns Hopkins University
- Department of Medicine
- Clinical Genetics Department
- Human Genetics Department
- Human Genetics and Genome Research Division
- Divisions of Adult and Pediatric Infectious Diseases
External person
Ruijuan Li
- Central South University
- Johns Hopkins University
- McKusick-Nathans Institute of Genetic Medicine
- Department of Hematology/Institute of Molecular Hematology
External person
Gary Steel
- Johns Hopkins University
- Howard Hughes Medical Institute
- University of Montreal
- McKusick-Nathans Institute of Genetic Medicine
- Division of Neonatology
- Institute of Genetic Medicine
- McKusick-Nathans Institute of Genetic Medicine
- Laboratory of Genetics
- Laboratory of Genetics
- Department of Pediatrics
- Laboratory of Genetics
- Serv. de Genet. Médicale
- School of Medicine
- Endocrinology Section
- the Howard Hughes Medical Institute
- National Institutes of Health
- Center for Infection and Inflammation Imaging Research
- Johns Hopkins Oncology Centre
External person
P. Y.Billie Au
- University of Calgary
- Department of Medical Genetics
- Cumming School of Medicine
External person
Gregor Andelfinger
- University of Montreal
- Cardiovascular Genetics
- Department of Pediatrics
- Division of Cardiovascular Genetics
- Cardiovascular Genetics
- Department of Biochemistry
- Jackson Laboratory
- Cardiovascular Genetics
- University of Montreal Health Center
External person
Deborah A. Nickerson
- University of Washington
- Division of Medical Genetics
- Department of Genome Sciences
- Northwest Genomics Center
- Brotman Baty Institute for Precision Medicine
External person
Lut Van Laer
- University of Antwerp
- Faculty of Medicine and Health Sciences
- Center of Medical Genetics
- Centre for Medical Genetics
- Center of Medical Genetics
- Department of Medical Genetics
External person
Holly K. Tabor
- University of Washington
- Children's Hospital and Regional Medical Center Seattle
- Stanford University
- Seattle Children's Research Institute
- Treuman Katz Center for Pediatric Bioethics
- Department of Pediatrics
- Treuman Katz Center for Pediatric Bioethics
- Division of Pulmonary and Sleep Medicine
- Division of Medical Genetics
- Division of Oncology
- Department of Genetics
External person
Tae Joon Cho
- Seoul National University
- Division of Pediatric Orthopaedics
- Department of Orthopaedic Surgery
External person
Maarten P. Van Den Berg
- University of Groningen
- Department of Cardiology
- Department of Cardiology
- Amsterdam UMC
External person
Noura Al Dhaheri
- Medical Genetics Resident
- Johns Hopkins University
- United Arab Emirates University
External person
R. B. Hufnagel
- National Institutes of Health
- Cincinnati Children's Hospital Medical Center
- Division of Human Genetics
- Division of Pediatric Nephrology and hypertension
- Unit on Pediatric
- Division of Experimental Hematology and Cancer Biology
- University of Cincinnati
- Ophthalmic Genetics and Visual Function Branch
External person
Carolyn Applegate
- Johns Hopkins University
- McKusick-Nathans Institute of Genetic Medicine
- McKusick-Nathans Institute of Genetic Medicine
- McKusick-Nathans Institute of Genetic Medicine
- Department of Oncology
- Institute of Genetic Medicine
- McKusick-Nathans Institute of Genetic Medicine
- Institute of Genetic Medicine
- Division of Neonatology
- McKusick-Nathans Institute of Genetic Medicine
- Johns Hopkins Oncology Centre
External person
Tamar Harel
- Hadassah University Medical Centre
- Monique and Jacques Roboh Department of Genetic Research
- Department of Molecular and Human Genetics
- Baylor College of Medicine
External person
Sairah Yousaf
- Bahauddin Zakariya University
- University of Maryland, Baltimore
- Institute of Molecular Biology and Biotechnology
- Department of Otorhinolaryngology Head and Neck Surgery
- National Institutes of Health
External person
Carolina Araujo Moreno
- Universidade Estadual de Campinas
- Department of Medical Genetics
External person
Davut Pehlivan
- Baylor College of Medicine
- Department of Molecular and Human Genetics
- Department of Molecular and Human Genetics
- Department of Pediatrics
- Texas Children's Hospital Houston
- Université de Franche-Comté
External person
Jianguo Zhang
- Department of Orthopedic Surgery
- Peking Union Medical College
- Chinese Academy of Medical Sciences
- Beijing Key Laboratory for Genetic Research of Skeletal Deformity
External person
Richard P. Lifton
- Yale University
- Howard Hughes Medical Institute
- Yale Center for Mendelian Genomics
- Rockefeller University
- Department of Genetics
- Department of Genetics
- School of Medicine
- Department of Genetics
- Center for Human Genetics and Genomics
- Department of Genetics
- Departments of Child Psychiatry and Genetics
- Laboratory of Human Genetics and Hematology
- Department of Neurosurgery
- Section of General Medicine
- Yale Center for Genome Analysis
- External Advisory Committee
External person
Clémantine Dimartino
- Université Paris Cité
- Paris Descartes University
- Sorbonne Paris Cité University (Paris V René Descartes
- Institut national de la santé et de la recherche médicale
External person
Ethylin W. Jabs
- Icahn School of Medicine at Mount Sinai
- Johns Hopkins University
- University of Texas Southwestern Medical Center
- Institute of Genetic Medicine
- Division of Neonatology
- McKusick-Nathans Institute of Genetic Medicine
- Department of Pediatrics
- Center for Medical Genetics
- Institute of Genetic Medicine
- Department of Genetics and Genomics Sciences
- Center for Medical Genetics
- Institute of Genetic Medicine
- Division of Infectious Diseases
- Department of Surgery and Plastic Surgery
- Center for Infection and Inflammation Imaging Research
- McKusick-Nathans Institute of Genetic Medicine
- Institute of Genetic Medicine
- Department of Neurology and Epidemiology
- McKusick-Nathans Institute of Genetic Medicine
- School of Medicine
- Department of Surgery
- Center for Medical Genetics
- Institute of Genetic Medicine
- Ctr. Craniofacial Devmt./Disorders
- Department of Pediatrics
- Medical University of South Carolina
- Department of Neurology
- Department of Plastic Surgery
- McKusick-Nathans Institute of Genetic Medicine
- Department of Surgery
- Department of Ophthalmology, 825 Maumence Bldg.
- Ctr. for Craniofacial Devmt./Disord.
- Department of Plastic Surgery and Neurosurgery
- Department of Pediatrics
- Department of Developmental and Regenerative Biology
- Department of Pediatrics
- Depnrtainentode Genetica
- Hospital Infantil de Mexico Federico Gomez
- Centers for Craniofacial Development and Disorders and Functional Anatomy and Evolution
- Divisions of Adult and Pediatric Infectious Diseases
- Department of Surgery Medicine
- Center for Medical Genetics and Departments of Pediatrics and Medicine
- National Institutes of Health
- Connaught Laboratories, Inc.
- Department of Ophthalmology
- Dept. of Biological Chemistry
- Surrey Place Centre
External person
Curtis E. Gumbs
- Duke University
- Center for Human Genome Variation
- Center for Human Genome Variation
- Institute for GenomeSciences and Policy
- Center for Human Genome Variation
External person
Bryn D. Webb
- Icahn School of Medicine at Mount Sinai
- Department of Genetics and Genomics Sciences
- Department of Pediatrics
External person
Samantha Baxter
- Harvard University
- Program in Medical and Population Genetics
- Broad Institute
External person
Per Eriksson
- Department of Medicine
- Karolinska Institutet
- Department of Medicine Solna
- Division of Rheumatology
- Clinical Immunology and Allergy
- Atherosclerosis Research Unit
- Department of Medicine
External person
Jay Shendure
- University of Washington
- Division of Medical Genetics
- University of Washington
- Howard Hughes Medical Institute
- Brotman Baty Institute for Precision Medicine
External person
S. Robertson
- University of Otago
- Department of Women's and Children's Health
- Dunedin School of Medicine
External person
Alexander Gelbard
- Vanderbilt University
- VA Medical Center
- Vanderbilt University Medical Center
- Department of Otolaryngology
- Department of Otolaryngology-Head and Neck Surgery
- Department of Otolaryngology–Head and Neck Surgery
- Department of Otolaryngology
- North American Airway Collaborative
External person
Florian Wünnemann
- University of Montreal
- University of Münster
- Faculty of Biology
- Department of Pediatrics
- Cardiovascular Genetics
- Cardiovascular Genetics
- Cardiovascular Genetics
- University of Montreal Health Center
External person
Christopher T. Gordon
- Université Paris 5
- Université Paris Descartes-Sorbonne Paris Cité
- Département de Génétique
- Université Paris Cité
- Paris Descartes University
- Sorbonne Paris Cité University (Paris V René Descartes
- Institut national de la santé et de la recherche médicale
External person
Catherine A. Brownstein
- Harvard University
- Department of Genetics and Genomics
- Division of Genetics and Genomics and the Manton Center for Orphan Diseases Research
- Boston Children's Hospital
External person
Jacquelyn F. Britton
- Johns Hopkins University
- McKusick-Nathans Institute of Genetic Medicine
- Institute of Genetic Medicine
External person
Luc Mertens
- University of Toronto
- Cardiology
- Cardiovascular Research
- Labatt Family Heart Centre
- Cardiovascular Research
- Sick Kids University Hospital
- Division of Respiratory Medicine
- Division of Cardiology
- Labatt Family Heart Centre
- Systematic Overviews through Advancing Research Technology
- Division of Cardiology
- Division of Cardiology
- Division of Cardiology
External person
Jillian S. Parboosingh
- Molecular Diagnostic Laboratory
- University of Calgary
- Department of Medical Genetics
- Alberta Children's Hospital
- Alberta Children's Hospital
External person
Harindra Arachchi
- National Cancer Institute United States
- National Institutes of Health
- Broad Institute
- Cancer Genome Atlas Program Office
- University of Colorado Denver
- Division of Pulmonary Sciences and Critical Care Medicine
- University of Colorado Anschutz Medical Campus
External person
Harrison Brand
- Harvard University
- Center for Human Genetic Research
- Department of Neurology
- Broad Institute
- Massachusetts Institute of Technology
- Massachusetts General Hospital
External person
Deborah A. Nickerson
- University of Washington
- Johns Hopkins University
- University of North Carolina at Chapel Hill
- Division of Medical Genetics
- Department of Genome Sciences
- Department of Medicine
- School of Medicine
- Seattle Children's Hospital and Research Foundation
- Clinical Research Coordinating Center
- Northwest Genomics Center
- Harvard University
- Broad Institute
External person
Beth Marosy
- Johns Hopkins University
- Center for Inherited Disease Research
- McKusick-Nathans Institute of Genetic Medicine
- McKusick-Nathans Institute of Genetic Medicine
- Department of Orthopaedic Surgery
- Center for Inherited Disease Research
External person
Gaetan Lesca
- Université de Lyon
- Universite Claude Bernard Lyon 1
- Institut national de la santé et de la recherche médicale
- Department of Genetics
- Reference Center for Developmental Anomalies
- Université de Lyon
- Hospices civils de Lyon
- ONCOFLAM - Neuro-Oncologie et Neuro-Inflammation Centre de Recherche en Neurosciences de Lyon
- Lyon University Hospital
- Pathologies de la Myéline et Neuro-inflammation
External person
Maria I. Melaragno
- Universidade Federal de São Paulo
- Genetics Division
- Clinical Genetics Center
External person
Memoona Ramzan
- School of Biological Sciences
- University of the Punjab
- National Institutes of Health
External person
Ok Hwa Kim
- Ajou University
- Department of Radiology
- Woorisoa Children's Hospital
- Department of Radiology
External person
Irini Manoli
- National Institutes of Health, Bethesda
- National and Kapodistrian University of Athens
- National Institutes of Health
- UOA
- First Department of Pediatrics
- Molecular Microbiology Section
- Laboratory of Clinical Investigation
- First Department of Pediatrics
- Medical Genomics and Metabolic Genetics Branch
- Human Biochemical Genetics Section
- Genetics and Molecular Biology Branch
- Laboratory of Clinical Investigation
- Endocrine Section
External person
Daniel G. MacArthur
- Broad Institute
- Harvard University
- Wellcome Sanger Institute
- Analytic and Translational Genetics Unit
- Program in Medical and Population Genetics
- Medical and Population Genetics
- Massachusetts Institute of Technology
- Program in Medical and Population Genetics
- Murdoch Children's Research Institute
- University of New South Wales
- Garvan Institute of Medical Research
- Queen Mary University of London
- Massachusetts General Hospital
External person
Michael F. Walsh
- Memorial Sloan-Kettering Cancer Center
- Department of Pediatrics
- Department of Pediatrics
- Johns Hopkins University
- Institute of Genetic Medicine
- Department of Oncology
- St. Jude Children Research Hospital
- Division of Neonatology
External person
Jason P. Smith
- Duke University
- Center for Human Genome Variation
- Genomic Analysis Facility
External person
Murat Gunel
- Yale University
- Department of Neurobiology
- Department of Neurosurgery
- Department of Genetics
- Department of Neurosurgery
- Department of Neurosurgery
- Departments of Child Psychiatry and Genetics
- Department of Genetics
- Department of Neurosurgery
- School of Medicine
External person
Chris Mungall
- Lawrence Berkeley National Laboratory
- Howard Hughes Medical Institute
- J. Craig Venter Institute
- Department of Molecular and Cell Biology
- University of California at Berkeley
- Genomics Division
- Environmental Genomics and Systems Biology Division
- Vision Science
- Monarch Initiative
External person
M. Brudno
- University of Toronto
- Stanford University
- Hospital for Sick Children
- Department of Computer Science
- Banting and Best Department of Medical Research
- Genetics and Genome Biology
- Centre for Computational Medicine
- Department of Computer Science
- Donnelly Centre
- University Health Network
- Vector Institute
- Canadian Centre for Computational Genomics
- Canadian Distributed Infrastructure for Genomics (CanDIG)
- Vector Institute
External person
Zubair M. Ahmed
- National Institutes of Health
- University of Maryland, Baltimore
- Johns Hopkins University
External person
Donna M. Muzny
- University of British Columbia
- Baylor College of Medicine
- Human Genome Sequencing Center
- Canada's Michael Smith Genome Sciences Centre
- Department of Molecular and Human Genetics
- Human Genome Sequencing Center
- Department of Molecular and Human Genetics
- Department of Human Genetics
- Harvard University
- Diabetes Unit
- Department of Medicine
- Human Genome Sequencing Center
- College of Medicine
- University of Pennsylvania
- Department of Pediatrics
- Membership of the SPARK Consortium Members is Provided in the Acknowledgements
- University of Texas MD Anderson Cancer Center
- British Columbia Cancer Agency
- The Barcelona Institute of Science and Technology
- Pompeu Fabra University
- University of Tübingen
- National Institutes of Health, Bethesda
- Massachusetts General Hospital
External person
Joshua D. Smith
- University of Washington
- University of North Carolina at Chapel Hill
- Division of Medical Genetics
- Department of Genome Sciences
- University of Washington
- Department of Genome Sciences
- University of Washington
External person
David B. Goldstein
- Duke University
- Columbia University
- Center for Human Genome Variation
- Center for Human Genome Variation
- Center for Human Genome Variation
- Institute for Genomic Medicine
- Center for Population Genomics Pharmacogenetics
- Institute for Genomic Medicine
- Institute for GenomeSciences and Policy
- Rm. 322 CARL Building
- University of Missouri
- New York Presbyterian Hospital
External person
Dongliang Ge
- Duke University
- Gilead Sciences, Inc.
- Center for Human Genome Variation
- Center for Human Genome Variation
- Center for Human Genome Variation
- Center for Population Genomics Pharmacogenetics
- Institute for GenomeSciences and Policy
- Department of Medicine
External person
Margaret J. McMillin
- University of Washington
- Department of Pediatrics
- Division of Pulmonary and Sleep Medicine
External person
Vera Ayres Meloni
- Universidade Federal de São Paulo
- Universidade de São Paulo
- Unidade de Genética
- Clinical Genetics Center
External person
Wendy Chung
- Columbia University
- Department of Veterans Affairs
- Simons Foundation
- Membership of the SPARK Consortium Members is Provided in the Acknowledgements
- The Pediatric Neuromuscular Clinical Research Network
External person
Peter N. Robinson
- Charité – Universitätsmedizin Berlin
- Max Planck Institute for Molecular Genetics
- The Jackson Laboratory for Genomics Medicine
- University of Connecticut
- Institute of Medical Genetics
- Institut für Medizinische Genetik
- Institute for Medical Genetics and Human Genetics
- Free University of Berlin
- Berlin-Brandenburg Center for Regenerative Therapies
- Department of Mathematics and Computer Science
- Institute for Systems Genomics
- Jackson Laboratory for Genomic Medicine
- Berlin Brandenburg Center for Regenerative Therapies
- Jackson Laboratory
- University of Connecticut
- University of Connecticut
- Monarch Initiative
- COVID-19 International Research Team
- Monarch Initiative
- University of Connecticut
- University of Connecticut
- The Jackson Laboratoryfor Genomic Medicine
External person
Jeanne Amiel
- University College London
- Case Western Reserve University
- Université Paris 5
- Institut national de la santé et de la recherche médicale
- Universite Paris Sorbonne - Paris IV
- Assistance publique – Hôpitaux de Paris
- Molecular Medicine Unit
- Institut National de la Santé et de la Recherche Médicale U781
- Faculté de Médecine
- Département de Génétique
- Département de Génétique
- Institut Imagine
- Laboratory of Embryology and Genetics of Congenital Malformations
- Dept. Epidemiol. (Metro Hlth. Camp.)
- Hôpital Necker-Enfants Malades (APHP)
- Université Paris Cité
- Université de Caen
- Sorbonne Paris Cité University (Paris V René Descartes
- Paris Descartes University
- Paris Descartes-Sorbonne Paris Cité University
External person
Nadia A. Akawi
- Wellcome Sanger Institute
- University of Oxford
- Division of Cardiovascular Medicine
External person
Richard N W Hauer
- Utrecht University
- Departments of Cardiology
- Interuniversity Cardiology Institute of the Netherlands
- Johns Hopkins University
- Netherlands Heart Institute
- Netherlands Heart Institute
- Division of Cardiology
- Department of Cardiology
- Department of Cardiology
- ICIN
- Department of Medicine
- Institute Netherlands-Netherlands Heart Institute
- Netherlands Heart Institute
- Netherlands Heart Institute
- Netherlands Heart Institute
- Royal Netherlands Academy of Arts and Sciences
External person
Seema Mital
- Children's Hospital of New York
- Intl. Soc. Heart Lung Transplant.
- University of Toronto
- Cardiovascular Research
- Division of Respiratory Medicine
- Cardiovascular Research
- Sick Kids University Hospital
- Columbia University
- Department of Pediatrics
- Labatt Family Heart Centre
- Department of Pediatrics
- The Department of Pediatrics
- Division of Pediatric Cardiology
- Labatt Family Heart Centre
- Division of Cardiology
- Division of Cardiology
External person
J. Peter Van Tintelen
- University of Groningen
- Interuniversity Cardiology Institute of the Netherlands
- Durrer Center for Cardiogenetic Research
- University of Amsterdam
- Netherlands Heart Institute
- Department of Clinical Genetics
- Department of Medical Genetics
- Department of Genetics
- Department of Genetics
- Department of Cardiology
- University Medical
- Utrecht University
- Department of Clinical Genetics
- Academic Medical Center
- Department of Genetics
- Department of Genetics
- ICIN
- Netherlands Heart Institute
- Amsterdam UMC
- Department of Clinical Genetics
- Durrer Cardiovascular Research Center
- Netherlands Heart Institute
- Institute Netherlands-Netherlands Heart Institute
- Netherlands Heart Institute
- Netherlands Heart Institute
- Imperial College London
- Royal Netherlands Academy of Arts and Sciences
- Amsterdam UMC
- Academic Medical Center
External person
Aline L. Petrin
- University of Iowa
- Department of Pediatrics
- Department of Orthodontics
- Department of Pediatrics
- Department of Orthodontics
External person
Christoph Preuss
- University of Montreal
- Department of Pediatrics
- Cardiovascular Genetics
- Cardiovascular Genetics
- Jackson Laboratory
- Cardiovascular Genetics
- University of Montreal Health Center
External person
Carlos R. Ferreira
- Children's National Health System
- National Institutes of Health
- Children's National Medical Center
- Division of Genetics and Metabolism
- Medical Genetics Branch
- Medical Genomics and Metabolic Genetics Branch
- Office of the Clinical Director
- National Institutes of Health, Bethesda
- University of Coimbra
External person
Daniel P. Judge
- Johns Hopkins University
- Division of Cardiology
- McKusick-Nathans Institute of Genetic Medicine
- Division of Hematology
- Department of Medicine/Cardiology
- Division of Cardiology
- Department of Medicine
- Division of Infectious Diseases
- Division of Cardiology
- Department of Cardiology
- McKusick-Nathans Institute of Genetic Medicine
- Division of Cardiology
- Division of Cardiology
- Department of Medicine
- Department of Medicine
- Division of Infectious Diseases, Department of Medicine
- Halsted 500
- Division of Cardiology
- Section of Cardiac Electrophysiology
- Harvard University
- Cardiac Ultrasound Laboratory
- Kennedy Krieger Institute
- Université Paris 5
- Division of Cardiology
- Departments of Pediatrics and Medicine
- School of Medicine
- Division of Cardiology
- Center for Inherited Disease Research
- Division of Pulmonary and Critical Care
- Department of Cardiology
- Department of Medicine
- Hugo W. Moser Research Institute
- Department of Medicine (Cardiology)
- Utrecht University
- Medical University of South Carolina
- Department of Cardiology
- Division of Cardiology
- Division of Cardiology
- Department of Medicine
- Department of Cardiology
- Department of Cardiology
- Division of Cardiology
- Department of Laboratory Medicine and Department of Medicine
- Université Paris Cité
- Division of Cardiac Electrophysiology
- Massachusetts General Hospital
- VA Caribbean Healthcare System
External person
Elizabeth C. Engle
- Harvard University
- Howard Hughes Medical Institute
- Broad Institute
- Division of Genetics
- Massachusetts Institute of Technology
- Departments of Neurology
- Departments of Ophthalmology
- Howard Hughes Medical InstitutionChevy Chase
- Department of Ophthalmology
- Department of Ophthalmology
- Department of Neurology
- Kirby Neurobiology Center
- Department of Neurology
- Department of Genetics
- Department of Neurology
- Enders 5
- Program in Neuroscience
- Department of Medicine
- Department of Neurology
- Program in Genomics
- Program in Neuroscience
- F.M. Kirby Neurobiology Center
- Medical Genetics Training Program
- Department of Neurology
- Division of Epilepsy and Clinical Neurophysiology
- Department of Genetics and Genomics
- Manton Center for Orphan Disease Research
- Program in Medical and Population Genetics
- Division of Newborn Medicine
- Department of Neurology and Program in Genomics
- Departments of Neurology, Ophthalmology, and Medicine
- Program in Neuroscience
- Department of Ophthalmology
- F.M. Kirby Neurobiology Center
- Department of Medicine (Genetics)
- Department of Neurology
- Boston Children's Hospital
- Boston Children's Hospital and Harvard Medical School
- Fetal-Neonatal Neurology Research Program
- Howard Hughes Medica Institute
- Department of Neurology
- Boston Children's Hospital
External person
Lynne M. Bird
- University of California at San Diego
- Johns Hopkins University
- National Institutes of Health
- Department of Pediatrics
- Department of Genetics
- Rady Children's Hospital
- Division of Dysmorphology and Genetics
External person
Tanya M. Harrell
- University of Washington
- Division of Pulmonary and Sleep Medicine
- Department of Pediatrics
- Fred Hutchinson Cancer Research Center
External person
David T. Humphreys
- Victor Chang Cardiac Research Institute
- University of New South Wales
External person
Maha Aly
- Université Paris Cité
- Paris Descartes University
- Sorbonne Paris Cité University (Paris V René Descartes
External person
Jonathan A. Forsberg
- Surgical Critical Care Initiative (SC2i)
- Naval Medical Research Center
- Walter Reed Army Institute of Research
- Uniformed Services University of the Health Sciences
- Department of Regenerative Medicine
- Department of Surgery
- Department of Orthopedics
- University of Michigan, Ann Arbor
- University of Michigan Health Systems
- Department of Surgery
- Johns Hopkins University
- Memorial Sloan-Kettering Cancer Center
External person
Monica Erazo
- Icahn School of Medicine at Mount Sinai
- Metropolitan Hospital Center
- Department of Genetics and Genomics Sciences
- Department of Obstetrics and Gynecology
- Metropolitan Hospital Center
External person
Jan D H Jongbloed
- University of Groningen
- Department of Genetics
- Department of Medical Genetics
- Department of Genetics
- University Medical
External person
Mary J. Malloy
- University of California at San Francisco
- Cardiovascular Research Institute
- Cardiovascular Research Institute
External person
Joanna Amberger
- Johns Hopkins University
- McKusick-Nathans Institute of Genetic Medicine
- McKusick-Nathans Institute of Genetic Medicine
- McKusick-Nathans Institute of Genetic Medicine
- School of Medicine
- McKusick-Nathans Institute of Genetic Medicine
- Johns Hopkins Oncology Centre
External person
Ghulam Mujtaba
- Institute of Nuclear Medicine and Oncology (INMOL)
- University of the Punjab
External person
S. Mallal
- National Institutes of Health
- Royal Perth Hospital
- Murdoch University
- Vanderbilt University
- University of Vermont
- Institute for Immunology and Infectious Diseases
- Center for Clinical Immunology and Biomedical Statistics
- Department of Medicine
- Division of Cancer Epidemiology and Genetics
- Division of Epidemiology
- Viral Epidemiology Branch
External person
Casie A. Genetti
- Harvard University
- The Manton Center for Orphan Disease Research
- Boston Children's Hospital
External person
Katrina A.B. Goddard
- Kaiser Permanente
- Case Western Reserve University
- Department of Epidemiology and Biostatistics
- Clinical Centers
- Genetic Analysis and Data Coordinating Center
- Department of Epidemiology and Biostatistics
- The Oregon Clinic
External person
Carsten Bergmann
- Johns Hopkins University
- University of Freiburg
- RWTH Aachen University
- Center for Human Genetics
- Department of Human Genetics
- Center for Human Genetics
- Department of Nephrology
- Bioscientia Institute
- Bioscientia Institut für Medizinische Diagnostik GmbH
- Friedrich-Alexander University Erlangen-Nürnberg
- Limbach Genetics
External person
Elisabeth Sparks
- Johns Hopkins University
- McKusick-Nathans Institute of Genetic Medicine
External person
Daniela Sebestyan M. Ribeiro
- Department of Clinical Genetics
- Rede SARAH de Hospitais de Reabilitação
External person
Michael Nafisinia
- University of Sydney
- Western Sydney Genetics Program
- Genetic Metabolic Disorders Research Unit
External person
Leslie G. Biesecker
- National Cancer Institute United States
- National Institutes of Health, Bethesda
- Children's National Medical Center
- University of Michigan, Ann Arbor
- National Institutes of Health
- Inherited Disease Research Branch
- Medical Genomics and Metabolic Genetics Branch
- Laboratory of Genetic Disease Research
- Surgery Branch
- Departments of Surgery and Plastic Surgery
- Genetic Disease Research Branch
- National Institutes of Health
- NIH Intramural Sequencing Center (NISC)
- Lab. for Genetic Disease Research
- Department of Pediatrics
- Thomas Jefferson University
- Jefferson Inst. of Molec. Medicine
External person
Avraham Shaag
- Hebrew University of Jerusalem
- Hadassah University Medical Centre
- Monique and Jacques Roboh Department of Genetic Research
- Monique and Jacques Roboh Department of Genetic Research
- Department of Hematology
External person
Jacques Fellay
- Duke University
- Center for Human Genome Variation
- Center for Human Genome Variation
- Institute for GenomeSciences and Policy
- Swiss Federal Institute of Technology Lausanne
- Laboratory of Molecular Neurodegenerative Research
- Institute of Microbiology
- University of Lausanne
- Swiss Institute of Bioinformatics
- Swiss HIV Cohort Study
- Center for Population Genomics Pharmacogenetics
- Brain Mind Institute
- Institut de Microbiologie
- Swiss HIV Cohort Study (SHCS)
- Swiss HIV Cohort Study
- School of Life Sciences
External person
Lauren Brady
- McMaster University
- Department of Pediatrics
- McMaster University
- Hamilton Health Sciences
External person
Shukti Chakravarti
- Cornea Division
- Johns Hopkins University
- Division of Infectious Diseases, Department of Medicine
- Division of Hematology
- Department of Cell Biology
- Department of Ophthalmology
- Division of Infectious Diseases
- Department of Cell Biology
- Department of Ophthalmology, 825 Maumence Bldg.
- Department of Medicine
- Department of Ophthalmology
- McKusick-Nathans Institute of Genetic Medicine
- Department of Cell Biology
- McKusick-Nathans Institute of Genetic Medicine
- Department of Ophthalmology
- Medicine (Gastroenterology)
- The Harvey M. and Lyn P. Meyerhoff Inflammatory Bowel Disease Center
- Division of Gastroenterology
- Department of Ophthalmology
- Department of Ophthalmology
- Department of Ophthalmology
- Department of Ophthalmology
- New York University
- Division of Neuropathology
- Department of Medicine
- Division of Gastroenterology
- Ciccarone Center for the Prevention of Cardiovascular Disease
- Case Western Reserve University
External person
Gretchen Oswald
- Johns Hopkins University
- Howard Hughes Medical Institute
- McKusick-Nathans Institute of Genetic Medicine
- McKusick-Nathans Institute of Genetic Medicine
- Department of Physical Medicine and Rehabilitation
- c/o Elaine P. Henze, BJ, ELS, Medical Editor
- Division of Neonatology
- School of Medicine
- Department of Orthopaedic Surgery
- Department of Anesthesiology and Critical Care Medicine
- Johns Hopkins Oncology Centre
External person
Meredith Weaver
- University of Maryland, Baltimore
- American College of Medical Genetics
- Stanford University
- American College of Medical Genetics
External person
Ingrid Glurich
- SUNY Buffalo
- Department of Microbiology School of Dental Medicine
- Marshfield Clinic
External person
H. Kitoh
- Nagoya University
- Aichi Cancer Center Hospital and Research Institute
- Department of Orthopaedic Surgery
External person
M. Fagiolini
- Harvard University
- RIKEN
- F.M. Kirby Neurobiology Center
- Department of Neurology
- Department of Neurology
- Critical Period Mechanisms Research Group
- Boston Children's Hospital
- Division of Epilepsy and Clinical Neurophysiology
- Boston Children's Hospital
External person
Montserrat Ruiz
- Inst. de Bioquimica Clínica
- Bellvitge Biomedical Research Institute
- CIBER - Center for Biomedical Research Network
- Bellvitge Biomedical Research Institute (IDIBELL)
- Neurometabolic Diseases Laboratory
- Hospital Duran i Reynals
- Center for Biomedical Research on Rare Diseases
- Instituto de Salud Carlos III
- Institute of Neuropathology
- Center for Biomedical Research on Rare Diseases
- Bellvitge Biomedical Research Institute
- Hospital Durán i Reynals
- Centro de Investigación Biomédica en Red
External person
Clifton L. Dalgard
- Uniformed Services University of the Health Sciences
- Uniformed Services University of the Health Sciences
- The American Genome Center
- Henry M. Jackson Foundation
External person
Wojciech Wiszniewski
- Baylor College of Medicine
- Department of Molecular and Human Genetics
- Oregon Health and Science University
- Institute of Mother and Child
External person
Ginette A. Hinds
- Department of Dermatology
- Johns Hopkins University
- Department of Dermatology
- Department of Dermatology
- Johns Hopkins Medical Institutions
- Howard University
- Yale University
External person
G. E. Graham
- Centre hospitalier pour enfants de l'est de l'Ontario
- Department of Genetics
- University of Maryland
- Johns Hopkins University
External person
Xilma R. Ortiz-González
- University of Pennsylvania
- Department of Neurology and Pediatrics
- Center for Mitochondrial and Epigenomic Medicine
- Women's and Children's Hospital Adelaide
- The Children's Hospital of Philadelphia
External person
Juliana Maria Ferraz Sallum
- Instituto de Genética Ocular
- Universidade Federal de São Paulo
External person
Tudor Groza
- University of Queensland
- Garvan Institute of Medical Research
- University of New South Wales
- Kinghorn Cancer Centre
- St Vincents' Clinical School
- School of Information Technology and Electrical Engineering
- Pryzm Health
- St Vincent's Clinic
- European Molecular Biology Laboratory
- Pryzm Health
- Perth Children's Hospital
External person
Erin M. Ramos
- National Cancer Institute United States
- University of Washington
- National Institutes of Health
- Division of Genomic Medicine
- Office of Population Genomics
- Institute for Public Health Genetics
- Department of Epidemiology
External person
Mingfu Zhu
- Duke University
- Center for Human Genome Variation
- Center for Human Genome Variation
External person
Kyle Retterer
- GeneDx
- GeneDx
- GeneDx
- GeneDx Gaithersburg
- GeneDx
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- GeneDx
- GeneDx
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- GeneDx
- GeneDx
- GeneDx
- GeneDX Inc
- Columbia University
- OPKO Health, Inc.
External person
Francisca Millan
- GeneDx
- GeneDx
- GeneDx Gaithersburg
- GeneDx
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- GeneDx
- GeneDX Inc
- OPKO Health, Inc.
External person
Cristina Pujades
- Department of Experimental and Health Sciences
- Pompeu Fabra University
External person
Julie Lauzon
- Alberta Children's Hospital
- University of Calgary
- Department of Medical Genetics
External person
Sergio Aguilera-Albesa
- Navarra Health Service
- Pediatric Neurology Unit
- Navarra Health Service
- Navarrabiomed
External person
Maria J. Guillen Sacoto
- National Institutes of Health
- GeneDX Inc
- Clinical Genomics Program
- OPKO Health, Inc.
External person
David FitzPatrick
- University of Edinburgh
- NHS Lothian
- Medical Research Council
- Department of Clinical and Human Genetics
- Cornelia de Lange Foundation of United Kingdom and Ireland
- Johns Hopkins University
- Western General Hospital
- Medical Research Council
External person
Gholamreza Shariati
- Narges Medical Genetics and Prenatal Diagnosis Laboratory
- Department of Medical Genetics
- Ahvaz Jundishapur University of Medical Sciences
External person
Nan Yang
- NHC Key Laboratory of Reproduction Regulation
- Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases
- Fudan University
External person
Dorothy K. Grange
- Washington University St. Louis
- Department of Pediatrics
- Saint Louis University
- Department of Pediatrics
- Cardiology Division
- National Institutes of Health, Bethesda
- Dept. Rehabilitation Medicine
- Division of Nephrology
- Department of Pediatrics
External person
Mina Motaghi
- Johns Hopkins University
- Georgia Southern University
- Russell H. Morgan Department of Radiology and Radiologic Sciences
- Brookdale Hospital Medical Center
External person
Elisa Giorgio
- University of Turin
- Department of Medical Sciences
- University of Pavia
- IRCCS Fondazione Istituto Neurologico Casimiro Mondino - Pavia
External person
Deborah L. Stabley
- Nemours
- Alfred I. duPont Hospital for Children
- Department of Biomedical Research
- Department of Biomedical Research
External person
Brian I. Labow
- Harvard University
- Department of Plastic and Oral Surgery
- Divisions of Plastic Surgery
- Department of Plastic Surgery
- Vanderbilt University
- Beth Israel Deaconess Medical Center
- Boston Children's Hospital
External person
Zhenlei Liu
- Department of Neurosurgery
- Capital Medical University
- Beijing Key Laboratory for Genetic Research of Skeletal Deformity
External person
Margot R F Reijnders
- Radboud University Nijmegen
- Department of Human Genetics
- Maastricht University
External person
Joan S. Ko
- Johns Hopkins University
- University of Virginia
- Department of Urology
- Department of Urology
- Division of Pediatric Urology
- J. Buchanan Brady Urological Inst.
- School of Medicine
- The James Buchanan Brady Urological Institute and Department of Urology
- School of Medicine
- Robotics Laboratory
External person
Reza Maroofian
- Genetics Research Centre
- University of London
- University College London
- St. George's University of London
- University College London
External person
M. Marble
- Johns Hopkins University
- University of Iowa
- Center for Infection and Inflammation Imaging Research
- Division of Neonatology
- Louisiana State University Health Sciences Center
- University of New Mexico
- Children's Hospital New Orleans
External person
Katrina Wood
- The Christie NHS Foundation Trust
- Newcastle upon Tyne Hospitals NHS Foundation Trust
External person
Peter S. Chines
- National Cancer Institute United States
- Harvard University
- University of Groningen
- National Institutes of Health
- Medical Genomics and Metabolic Genetics Branch
- Division of Endocrinology and Center for Basic and Translational Obesity Research
- Genome Technology Branch
- Division of Intramural Research
- Department of Molecular and Clinical Pharmacology
- University of Liverpool
- Cedars-Sinai Medical Center
- Boston Children's Hospital
External person
Szabolcs Szelinger
- Translational Genomics Research Institute
- Translational Genomics Institute
- Arizona State University
- Neurogenomics Division
- Division of Neurogenomics
- Translation Genomic Research Institute
- University of California at Los Angeles
- TGen
External person
Katherine Rock Forster
- Department of Gynecology and Obstetrics
- Johns Hopkins University
- Division of Maternal Fetal Medicine
- Kelly Gynecologic Oncology Service
- Sibley Memorial Hospital
External person
Ann Cathrin Lehsau
- Universitätsklinikum Schleswig-Holstein Campus Lübeck
- Department of Cardiac and Thoracic Vascular Surgery
- University of Lübeck
External person
Rhonda E. Schnur
- Rowan University
- Rutgers - The State University of New Jersey, New Brunswick
- GeneDx
- GeneDX Inc
- OPKO Health, Inc.
- Cooper Medical School of Rowan University
External person
Haloom Rafehi
- Department of Medical Biology
- University of Melbourne
- Population Health and Immunity Division
- Walter and Eliza Hall Institute of Medical Research
External person
L. C. Adès
- University of Sydney
- Women's and Children's Hospital Adelaide
- Marfan Research Group
- Department of Clinical Genetics
- Department of Discipline of Paediatrics and Child Health
- Department of Clinical Genetics
- Discipline of Child and Adolescent Health
- Children's Hospital Westmead
- School of Paediatrics and Child Health
- The Children's Hospital at Westmead
External person
Ruth J. Davis
- National Cancer Institute United States
- National Institutes of Health
- National Institutes of Health, Bethesda
- Cleveland Clinic Lerner College of Medicine of Case Western Reserve University
- Johns Hopkins University
- Medical Research Scholars Program
- Department of Otolaryngology-Head and Neck Surgery
- Tumor Biology Section
- Head and Neck Surgery Branch
- Case Western Reserve University
- Vanderbilt University
- University of Wisconsin-Madison
External person
Odile Boespflug-Tanguy
- Institut national de la santé et de la recherche médicale
- Université Paris 7
- Hôpital Robert Debré AP-HP
- Paris Diderot University
External person
Ajay A. Kumar
- University of Antwerp
- Faculty of Medicine and Health Sciences
- Center of Medical Genetics
- Centre for Medical Genetics
External person
Sang Jin Kim
- Sungkyunkwan University
- Johns Hopkins University
- Samsung Medical Center, Sungkyunkwan university
External person
Katia Sol-Church
- Nemours
- Alfred I. duPont Hospital for Children
- Thomas Jefferson University
- Department of Biomedical Research
- Department of Biomedical Research
External person
P. Khairy
- University of Montreal
- Congenital Heart Center
- Cardiovascular Genetics Center
- Montreal Heart Institute
- Johns Hopkins University
External person
Oscar F. Chacón-Camacho
- Universidad Nacional Autónoma de México
- Department of Genetics-Research Unit
- Institute of Ophthalmology 'Conde de Valenciana'
External person
Margaret Piper
- Kaiser Permanente
- Blue Cross and Blue Shield Association
- Blue Cross/Blue Shield Association Technology Evaluation Center
- Blue Cross/Blue Shield Association, Technology Evaluation Center
- Hayes Inc
- Genetic Test Evaluation Program
External person
Christine R. Beck
External person
Vikash Oza
- University of California at San Francisco
- New York University
- Department of Dermatology
- Ronald O. Perelman Department of Dermatology
External person
Jiaqi Liu
- Chinese Academy of Medical Sciences
- Peking Union Medical College
- Beijing Key Laboratory for Genetic Research of Skeletal Deformity
External person
William J. McKenna
- University College London
- Barts
- Institute of Cardiovascular Science
- Division of Cardiovascular Imaging and Biostatistics
- Centre for Heart Muscle Disease
- St. George's University of London
- Department of Cardiological Sciences
- Johns Hopkins University
- Division of Pulmonary and Critical Care Medicine
- Heart Hospital
- National Health Service
- Regne Unit
- L'Hospital Heart
- Hamad Medical Corporation
- Barts Health NHS Trust
- St Bartholomew's Hospital
- University College London Hospitals NHS Foundation Trust
External person
Bernardo Blanco-Sánchez
- Université Paris Cité
- Paris Descartes University
- Sorbonne Paris Cité University (Paris V René Descartes
- University of Oregon
External person
Weisheng Chen
- Department of Orthopedic Surgery
- Peking Union Medical College
- Graduate School of Peking Union Medical College
External person
Judith A. Groeneweg
- Departments of Cardiology
- Interuniversity Cardiology Institute of the Netherlands
- Utrecht University
- Department of Cardiology
- ICIN
- Department of Medicine
- Royal Netherlands Academy of Arts and Sciences
External person
Roos F. Marsman
- University of Amsterdam
- Heart Failure Research Center
- Department of Clinical and Experimental Cardiology
- Academic Medical Center
External person
Sheila Unger
- University of Freiburg
- University of Lausanne
- Institute for Human Genetics
- Center for Pediatrics and Adolescent Medicine
- Service of Medical Genetics
External person
Ilse Luyckx
- University of Antwerp
- Faculty of Medicine and Health Sciences
- Center of Medical Genetics
- Centre for Medical Genetics
- Radboud University Nijmegen
External person
C. Bennett
- University of South Florida
- Wellcome Trust
- Chapel Allerton Hospital
- Department of Clinical Genetics
- University of North Carolina at Chapel Hill
- Howard Hughes Medical Institute
- Johns Hopkins University
- Department of Psychiatry
- Leeds Teaching Hospitals NHS Trust
External person
R. L. Slayton
- University of Washington
- Department of Pediatric Dentistry
- Department of Pediatric Dentistry
- University of Iowa
External person
Mirlene Cecília Soares Pinho Cernach
- Universidade Federal de São Paulo
- Departamentos de Morfologia e de Pediatria
External person
April Rahrig
- GeneDx
- GeneDx
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- Advocate Children's Hospital
- GeneDx
- GeneDx
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- GeneDx
- GeneDx
- GeneDx
- GeneDx
- Department of Pediatrics
- GeneDx
- GeneDx
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- GeneDx
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- GeneDx
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- GeneDx
- GeneDx
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- GeneDx
- GeneDx
- GeneDx
- GeneDx
- GeneDx
- GeneDx
- GeneDx
- GeneDx
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- GeneDx
- GeneDx
- GeneDx
- GeneDx
- GeneDx
- GeneDX Inc
- OPKO Health, Inc.
External person
J. B. Hetmanski
- Johns Hopkins University
- Genetic Analysis Core
- School of Hygiene and Public Health
- Department of Epidemiology
- Department of Pediatrics
- Institute of Genetic Medicine
- Department of Epidemiology
- Departments of Biostatistics and Epidemiology
- Department of Epidemiology
- Department of Epidemiology
- Department of Epidemiology
- Johns Hopkins Ctr. Injury Res./Pol.
- Department of Epidemiology
- Department of Epidemiology
- School of Public Health
- Department of Epidemiology
- Genetic Analysis Center
- Department of Epidemiology
- Genetic Analysis Core
- School of Public Health
- Genetic Analysis Center
- Genetic Analysis Center
- Genetic Analysis Center
External person
Angela Robles
- Dr. Angela Robles Pediatrics Private PracticeSan SebastianPuerto Rico
- Dr. Angela Robles Pediatrics Private Practice
External person
Fabienne Giuliano
- CHU de Nice
- Hôpital Raymond Poincaré
- Assistance Publique-Hopitaux de Paris
- University Hospital of Nice
External person
Helen Cox
- Birmingham Women's Hospital
- W. Midlands Regional Genetics Unit
- Birmingham Women's and Children's NHS Foundation Trust
- West Midlands Regional Genetics Service
- The Christie NHS Foundation Trust
- West Midlands Regional Clinical Genetics Service and Birmingham Health Partners
- Birmingham Health Partners
External person
Anna Hackett
- Genetics of Learning Disability Service
- Hunter Area Health Service
- Hunter Genetics
- University of Newcastle
- University of Newcastle
External person
Jasmine Lee-Barber
- Johns Hopkins University
- Center for Infection and Inflammation Imaging Research
- McKusick-Nathans Institute of Genetic Medicine
- McKusick-Nathans Institute of Genetic Medicine
External person
Courtney E. Woods
- McKusick-Nathans Institute of Genetic Medicine
- Johns Hopkins University
External person
Nathalie Launay
- Bellvitge Biomedical Research Institute (IDIBELL)
- Bellvitge Biomedical Research Institute
- CIBER - Center for Biomedical Research Network
- Instituto de Salud Carlos III
- Centro de Investigación Biomédica en Red
External person
Xiaolu Meng
- The McKusick–Zhang Center for Genetic Medicine
- The State Key Laboratory of Medical Molecular Biology
- Chinese Academy of Medical Sciences
External person
Melanie Bahlo
- University of Melbourne
- Walter and Eliza Hall Institute of Medical Research
External person
Jad M. El Abiad
- Department of Orthopaedic Surgery
- Johns Hopkins University
- Department of Orthopaedic Surgery
- Department of Orthopaedic Surgery
- Department of Orthopaedic Surgery
- funding from the Orthopaedic Research and Education Foundation (Rosemont, The institution of one or more of the authors (IG)
- American University of Beirut
External person
Nicholas C. Stefanis
- University of Western Australia
- National and Kapodistrian University of Athens
- King's College London
- University Mental Health Research Institute
- Psychiatry Department
- Theodor-Theohari Cozzika Foundation
- Department of Psychiatry
- Department of Psychological Medicine
- Division of Psychological Medicine
- Department of Psychiatry
- Department of Psychiatry
- Department of Psychiatry
- Department of Psychiatry
- Research Institute
- Department of Psychiatry
- University Mental Health
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- Psychiatry Department
- Department of Psychosis Studies
- School of Psychiatry and Clinical Neurosciences
- Neurobiology Research Institute
- Department of Psychiatry
- Division of Geriatric Psychiatry
- Research Institute
- Department of Psychiatry
- 1st Psychiatry Department
- Maastricht University
- Department of Psychiatry
- Université de Bordeaux
- Department of Psychiatry and Neuropsychology
- Division of Psychological Medicine
- Neurobiology Research Institute
- Aeginition Hospital
External person
Juan C. Zenteno
- Universidad Nacional Autónoma de México
- Department of Biochemistry
- Department of Genetics-Research Unit
- National Autonomous University of Mexico
- Institute of Ophthalmology 'Conde de Valenciana'
External person
Kathryn M. Shively
- University of Washington
- Department of Pediatrics
- Division of Pulmonary and Sleep Medicine
External person
Christelle Rougeot
- Hôpital Femme Mre Enfants
- Hospices civils de Lyon
- Pathologies de la Myéline et Neuro-inflammation
External person
Anthony J. Brookes
- University of Leicester
- Human Variome Project Planning Meeting 2008
- Karolinska Institutet
- Division of Medical Genetics
- Department of Genetics
- Center for Genomics and Bioinformatics
- University of Cambridge
- Division of Virology
External person
Martin Kircher
- University of Washington
- Division of Medical Genetics
- Berlin Institute of Health (BIH)
- Charité – Universitätsmedizin Berlin
- Berlin Institute of Health
External person
Marja W. Wessels
- Erasmus University Rotterdam
- Department of Clinical Genetics
- Department of Clinical Genetics
- Department of Clinical Genetics
- CBG Department of Clinical Genetics
- University of Toronto
- Division of Respiratory Medicine
External person
Christian A. Hübner
- Friedrich Schiller University Jena
- Institute of Human Genetics
- Charité – Universitätsmedizin Berlin
External person
Paul J. Lockhart
- University of Melbourne
- Department of Paediatrics
- Murdoch Children's Research Institute
External person
M. Le Merrer
- Université Paris 5
- Université de Caen
- International Skeletal Dysplasia Reg
- Service de Génétique
External person
Justin E. Paschall
- National Cancer Institute United States
- National Institutes of Health, Bethesda
- National Institutes of Health
- Wellcome Trust
- National Institute for Biotechnology Information
- Johns Hopkins University
External person
Brian C. Jensen
- University of California at San Francisco
- University of North Carolina at Chapel Hill
- Department of Medicine
- Department of Medicine
- Department of Medicine
External person
Dorothée Ville
- Department of Neuropediatrics
- Université de Lyon
- Université de Lyon
- Hospices civils de Lyon
- Pathologies de la Myéline et Neuro-inflammation
External person
Long Cheng
- Harvard University
- Department of Neurology
- Kirby Neurobiology Center
- Department of Neurology
- F.M. Kirby Neurobiology Center
- Department of Neurology
- Division of Epilepsy and Clinical Neurophysiology
- Department of Neurology
- Boston Children's Hospital
External person
Richard Kellermayer
- Baylor College of Medicine
- Section of Pediatric Gastroenterology
- Section of Pediatric Gastroenterology
- Texas Children's Hospital Houston
- University of Utah
External person
Patrick T. Ellinor
- Harvard University
- Broad Institute
- Massachusetts Institute of Technology
- Center for Human Genetic Research
- Wake Forest University
- National Institutes of Health, Bethesda
- S.A.L
- Massachusetts General Hospital
- Cardiovascular Research Center
- Boston University
- Inspectorate of Health Care
- Massachusetts General Hospital
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External person
Alessandro Brussino
- AOU San Giovanni Battista
- University of Turin
- Molecular Biotechnology Center
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Daphné Lehalle
- Microbiologie
- Sorbonne Université
- Université de Bourgogne
- Universite Pierre et Marie Curie
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External person
Isabelle Desguerre
- Université Paris 5
- Hôpital Saint Vincent de Paul
- Department of Pediatric Neurology
- Departments of Medical Biochemistry, Pediatrics and Neurology
- Institut national de la santé et de la recherche médicale
- Université Paris Descartes-Sorbonne Paris Cité
- Université Paris Cité
- Sorbonne Paris Cité University (Paris V René Descartes
External person
Kyrieckos A. Aleck
- Phoenix Children's Medical Group
- St. Joseph's Hospital and Medical Center, Phoenix
- Phoenix Children's Hospital
External person
Aslihan Tolun
- Bogazici University
- Department of Molecular Biology and Genetics
- Istanbul Technical University
External person
Anne H. O’Donnell-Luria
- Analytic and Translational Genetics Unit
- Harvard University
- Program in Medical and Population Genetics
- Broad Institute
- Massachusetts Institute of Technology
- Boston Children's Hospital
- Massachusetts General Hospital
External person
Sharon F. Terry
- Genetic Alliance
- University of Miami
- Genetic Alliance and PXE Intl., Inc.
- PXE International Inc.
- Genetic Alliance
- Genetic Alliance
- Genetic Alliance UK
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Jill Clayton-Smith
- Manchester University NHS Foundation Trust
- Manchester Centre for Genomic Medicine
- University of Manchester
- University of Manchester
- Health Innovation Manchester
External person
Andreas Dufke
- University of Tübingen
- Institute of Medical Genetics and Applied Genomics
External person
Maha S. Zaki
- National Research Center
- Clinical Genetics Department
- Human Genetics and Genome Research Division
External person
Albert E. Chudley
- University of Manitoba
- Department of Pediatrics and Child Health
- Department of Biochemistry and Medical Genetics
- Section of Genetics and Metabolism
External person
Veena P. Gnanakkan
- Johns Hopkins University
- McKusick-Nathans Institute of Genetic Medicine
- Predoctoral Training Program in Human Genetics
- Institute of Genetic Medicine
- McKusick-Nathans Institute of Genetic Medicine
External person
Alfredo Brusco
- University of Turin
- AOU San Giovanni Battista
- Dipto. di Genetica Biol. Biochimica
- Department of Medical Sciences and Medical Genetics Unit
- Molecular Biotechnology Center
- Department of Medical Sciences
- Medical Genetics Unit
- Azienda Ospedaliera - Universitaria Città della Salute e della Scienza di Torino
External person
Elizabeth E. Blue
- University of Washington
- Brotman Baty Institute for Precision Medicine
- Division of Medical Genetics
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Muhammad A. Latif
- Johns Hopkins University
- Harvard University
- Brigham and Women's Hospital
External person
Kavitha Ravee Iyer
- University of Western Australia
- Victor Chang Cardiac Research Institute
External person
Carlos Bacino
- Baylor College of Medicine
- BCM
- Department of Molecular and Human Genetics
- Department of Molecular and Human Genetics
- Department of Molecular and Human Genetics
- Texas Children's Hospital Houston
- Baylor Genetics, LLC
- National Institutes of Health, Bethesda
External person
Mao Lin
- Department of Orthopedic Surgery
- Peking Union Medical College
- Beijing Key Laboratory for Genetic Research of Skeletal Deformity
- Graduate School of Peking Union Medical College
External person
Helen C. Su
- National Cancer Institute United States
- National Institutes of Health
- Laboratory of Host Defenses
- Department of Pathology and Laboratory Medicine
- University of Pennsylvania
External person
Fabio Sirchia
- Institute for Maternal and Child Health
- IRCCS Ospedale Infantile Burlo Garofolo - Trieste
- Azienda Ospedaliera - Universitaria Città della Salute e della Scienza di Torino
External person
Gerald F. Cox
- Kennedy Krieger Institute
- Harvard University
- Genzyme Corporation
- Peroxisomal Diseases Laboratory
- Department of Pediatrics
- Clinical Research
- Department of Genetics and Genomics
- Children’s Hospital
- Division of Genetics
- Gerald Cox Rare Care Consulting
- Boston Children's Hospital
External person
Juliet C. Bishop
- Department of Gynecology and Obstetrics
- Johns Hopkins University
- Division of Maternal Fetal Medicine
External person
Xiaofei Song
- Department of Molecular and Human Genetics
- Baylor College of Medicine
- University of South Florida
External person
Huifang Yan
- Department of Pediatrics
- Peking University
- University of Michigan, Ann Arbor
External person
Maureen A. Mealy
- Johns Hopkins University
- Department of Neurology
- Department of Neurology
- Multiple Sclerosis and Transverse Myelitis Centers
- Department of Neuroimmunology and Neuroinfectious Disorders
- Department of Neurology
- Department of Neurology
- School of Nursing
- Department of Acute and Chronic Care
- Viela Bio
- University School of Nursing
External person
Nicolas Chatron
- Hospices civils de Lyon
- Université de Lyon
- Pathologies de la Myéline et Neuro-inflammation
External person
Koen van Gassen
- Utrecht University
- Department of Medical Genetics
- Department of Metabolic Diseases
- Department of Genetics
External person
Dianalee Mcknight
- GeneDx
- GeneDx
- GeneDx
- GeneDx Gaithersburg
- GeneDx
- GeneDx
- GeneDx
- GeneDx
- GeneDx
- GeneDx
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- GeneDx
- GeneDx
- GeneDx
- GeneDx
- GeneDx
- GeneDx
- GeneDx
- GeneDx
- GeneDx
- GeneDX Inc
- GeneDx
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- NIH
- National Institutes of Health
- OPKO Health, Inc.
- Invitae Corporation
External person
Michael J. Bamshad
- University of Washington
- Children's Hospital and Regional Medical Center Seattle
- Johns Hopkins University
- University of Utah
- Division of Pulmonary and Sleep Medicine
- Department of Pediatrics
- Department of Pediatrics
- Division of Medical Genetics
- Department of Genome Sciences
- Division of Genetic Medicine
- Seattle Children's Hospital and Research Foundation
- Division of Pediatric Neurology
- Brotman Baty Institute for Precision Medicine
- Seattle Children's Hospital
External person
Janson J. White
- Baylor College of Medicine
- Department of Molecular and Human Genetics
- University of Washington
- Department of Genome Sciences
- Department of Pediatrics
External person
Dmitriy Niyazov
- Ochsner Health System
- Ochsner Health System
- Department of Pediatrics
- Louisiana State University Health Sciences Center
External person
Anna Cereda
- University of Milan
- Department of Pediatrics
- IRCCS Fondazione Ca'Granda – Ospedale Maggiore Policlinico - Milano
- ASST Papa Giovanni XXIII
- Papa Giovanni XXIII Hospital
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Elsdon Storey
- Department of Neuroscience
- Monash University
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- Harvard University
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- School of Public Health and Preventive Medicine
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Maria De Fatima De Faria Soares
- Universidade Federal de São Paulo
- Medical Genetics Institute
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Adele A. Mitchell
- Icahn School of Medicine at Mount Sinai
- Johns Hopkins University
- Office of Chief Medical Examiner of the City of New York
- University of Washington
External person
Anne F. Dodd
- Emory University
- Department of Human Genetics
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External person
Pankaj B. Agrawal
- Harvard University
- Divisions of Newborn Medicine and Genetics and Program in Genomics
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- Children's Hospital
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- Broad Institute
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Jennifer McEvoy-Venneri
- Rady Children's Hospital
- University of California at San Diego
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- Howard Hughes Medical Institute
External person
Yuzhi Zuo
- Department of Orthopedic Surgery
- Medical Research Center of Orthopedics
- Chinese Academy of Medical Sciences
- Peking Union Medical College
- Beijing Key Laboratory for Genetic Research of Skeletal Deformity
External person
Ke Hao
- Icahn School of Medicine at Mount Sinai
- Merck
- Harvard University
- Institute for Biomedicine
- Anhui Medical University
- Program for Population Genetics
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- Institute of Biomedicine
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- Boston University
- Department of Biostatistics
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- Shanghai Tenth People's Hospital
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Duncan B. Sparrow
- University of Oxford
- Victor Chang Cardiac Research Institute
- University of New South Wales
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Danny Antaki
- University of California at San Diego
- Department of Psychiatry
- Beyster Center for Genomics of Psychiatric Diseases
- Rady Children's Hospital
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External person
S. E. Drant
- University of Pennsylvania
- University of Pittsburgh
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- The Children's Hospital of Philadelphia
External person
A. E. Lang
- University of Texas Southwestern Medical Center
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- Department of Medicine
- Morton and Gloria Shulman Movement Disorders Centre
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- Movement Disorders
- Morton and Gloria Shulman Movement Disorders Clinic and the Edmond J. Safra Program in Parkinson's Disease
- Movement Disorders
- Toronto Western Hospital University of Toronto
External person
Ghulam Mujtaba
- Institute of Nuclear Medicine and Oncology (INMOL)
- University of the Punjab
External person
Marc S. Williams
- Genomic Medicine Institute
- Geisinger Medical Center
- Genomic Medicine Institute
- Celera Genomics
- Genome Medicine Institute
- Geisinger Health
- Vanderbilt University
External person
Kym M. Boycott
- Centre hospitalier pour enfants de l'est de l'Ontario
- Care4Rare Research Consortium
External person
Petros Syrris
- Centre for Heart Muscle Disease
- University College London
- Institute of Cardiovascular Science
External person
Matthew Taylor
- University of Colorado Anschutz Medical Campus
- University of Colorado Denver
External person
G. Michael Halmagyi
- University College London
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Nuo Si
- Chinese Academy of Medical Sciences
- The State Key Laboratory of Medical Molecular Biology
External person
G. A. Satten
- Centers for Disease Control and Prevention
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- Emory University
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- Division of Reproductive Health
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Sara J. Bowne
- University of Texas Health Science Center at Houston
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Ruth Ottman
- Columbia University
- Rush University
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- Division of Epidemiology
- Department of Neurology
- Department of Epidemiology
- G.H. Sergievsky Center
- Departments of Epidemiology and Neurology
- Division of Epidemiology
- Department of Epidemiology
External person
Brendan C. Lanpher
- Mayo Clinic Rochester, MN
- Department of Clinical Genomics
- Center for Individualized Medicine
- Department of Clinical Genomics Department of Health Sciences Research
External person
Yuchen Niu
- Department of Central Laboratory
- Peking Union Medical College
- Beijing Key Laboratory for Genetic Research of Skeletal Deformity
External person
Barbosa, Ricardo Henrique Almeida
- Universidade Federal de São Paulo
- Department of Morphology
External person
A. L. Beaudet
- Baylor College of Medicine
- National Institutes of Health, Bethesda
- Department of Pediatrics
- Institute for Molecular Genetics
- Department of Molecular and Human Genetics
- Membership of the SPARK Consortium Members is Provided in the Acknowledgements
External person
Carol L. Clericuzio
- University of New Mexico
- Department of Pediatrics
- Department of Pediatrics
External person