1990 …2024

Research activity per year

Network

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

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

Carol A. Bocchini

  • Johns Hopkins University
  • 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

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

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

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

Milan MacEk

  • Charles University
  • Johns Hopkins University
  • Cystic Fibrosis Center
  • Institute of Biology and Medical Genetics
  • Inst. of Biol. and Medical Genetics
  • Department of Biology and Medical Genetics
  • Center of Medical Genetics
  • Center for Medical Genetics
  • School of Medicine
  • Department of Medical Genetics II
  • Division of Neonatology
  • Department of Medical Genetics II
  • Department of Pediatrics
  • Institute of Biology
  • Center for Medical Genetics
  • Divisions of Adult and Pediatric Infectious Diseases
  • University of Michigan, Ann Arbor
  • Second Faculty of Medicine
  • Department of Biology and Medical Genetics
  • Free University of Berlin
  • First Medical Faculty

External person

Francois Schiettecatte

  • FS Consulting LLC
  • FS Consulting LLC
  • LLC

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

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

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

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

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

Julius O.B. Jacobsen

  • Queen Mary University of London

External person

Gareth Baynam

  • University of Western Australia
  • Genetic Services of Western Australia
  • King Edward Memorial Hospital for Women
  • School of Paediatrics and Child Health
  • Western Australian Register of Developmental Anomalies
  • Murdoch University
  • Institute for Immunology and Infectious Diseases
  • Telethon Kids Institute
  • Western Australian Register of Developmental Anomalies
  • Government of Western Australia
  • Curtin University
  • Perth Children's Hospital

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

Jennifer E. Posey

  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • National Institutes of Health, Bethesda

External person

Shalini N. Jhangiani

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

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

Sebastian Köhler

  • Charité – Universitätsmedizin Berlin
  • Institute for Medical Genetics and Human Genetics
  • Einstein Center Digital Future
  • Monarch Initiative
  • Ada Health GmbH
  • Monarch Initiative
  • Berlin Institute of Health

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

Nicole A. Vasilevsky

  • Oregon Health and Science University
  • Department of Medical Informatics and Clinical Epidemiology
  • Monarch Initiative
  • University of Colorado Anschutz Medical Campus
  • Monarch Initiative
  • Critical Path Institute

External person

Kym M. Boycott

  • Centre hospitalier pour enfants de l'est de l'Ontario
  • Care4Rare Research Consortium

External person

Ana Rath

  • Institut national de la santé et de la recherche médicale
  • Orphanet

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

Iain McIntosh

  • Institute of Genetic Medicine
  • Johns Hopkins University
  • American University of the Caribbean
  • Division of Neonatology
  • National Institutes of Health
  • Medical Genetics Branch
  • Division of Maternal Fetal Medicine
  • Division of Infectious Diseases
  • Division of Hematology
  • Department of Medicine
  • MuKusick-Nathans Institute of Genetic Medicine
  • McKusick-Nathans Institute of Genetic Medicine
  • School of Hygiene and Public Health
  • Center for Medical Genetics
  • Center for Medical Genetics
  • McKusick-Nathans Institute of Genetic Medicine
  • Center for Medical Genetics
  • Division of Pediatric Cardiology
  • Dept. of Physiology and Pediatrics
  • Institute of Genetic Medicine
  • School of Medicine
  • Greenberg Center for Skeletal Dysplasia
  • Department of Epidemiology
  • Johns Hopkins Oncology Centre
  • American University of the Caribbean
  • Predoctoral Training Program in Human Genetics and Molecular Biology
  • Department of Physiology
  • American University of the Caribbean School of Medicine
  • University of Edinburgh
  • Western General Hospital

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

Damian Smedley

  • Wellcome Sanger Institute
  • Mouse Informatics Group
  • Wellcome Trust
  • Queen Mary University of London
  • Clinical Pharmacology

External person

Julie McMurry

  • Oregon State University
  • Oregon Health and Science University
  • Department of Medical Informatics and Clinical Epidemiology
  • Monarch Initiative
  • University of Colorado Anschutz Medical Campus
  • Monarch Initiative
  • University of Colorado Denver

External person

Rita McWilliams

  • Johns Hopkins University
  • Rutgers - The State University of New Jersey, New Brunswick
  • Department of Epidemiology
  • McKusick-Nathans Institute of Genetic Medicine
  • Department of Epidemiology

External person

Monica Munoz-Torres

  • Lawrence Berkeley National Laboratory
  • Genomics Division
  • Georgetown University
  • Department of Biology
  • Department of Environmental and Molecular Toxicology
  • Oregon State University
  • Monarch Initiative
  • University of Colorado Anschutz Medical Campus

External person

Suzanne Beck

  • St. Christopher's Hospital for Children
  • Drexel University
  • Johns Hopkins University
  • University of Pennsylvania
  • The Children's Hospital of Philadelphia

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

Soichi Ogishima

  • Tokyo Medical and Dental University
  • Tohoku University
  • Tohoku Medical Megabank Organization
  • Dept of Bioclinical Informatics
  • Department of Bioinformatics
  • Tohoku Medical Megabank Organization
  • Ohio State University

External person

N. Harris

  • Lawrence Berkeley National Laboratory
  • Environmental Genomics and Systems Biology Division
  • Monarch Initiative

External person

Stephanie O M Dyke

  • Wellcome Sanger Institute
  • McGill University
  • University of Montreal
  • Centre of Genomics and Policy
  • Faculty of Medicine

External person

Anthony A. Philippakis

  • Broad Institute
  • Harvard University
  • 7 Cambridge Center
  • Department of Cardiology
  • GV
  • Alphabet Inc.
  • Massachusetts Institute of Technology
  • Brigham and Women's Hospital

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

Bert De Vries

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

External person

André Reis

  • Friedrich-Alexander University Erlangen-Nürnberg
  • Humboldt University of Berlin
  • Institut für Humangenetik
  • Institut für Humangenetik
  • Free University of Berlin
  • Institute of Human Genetics

External person

Matthew Hurles

  • Wellcome Sanger Institute
  • Wellcome Trust
  • Genomic Mutation and Genetic Disease
  • Queen Mary University of London

External person

Lawrence Babb

  • Sunquest Information Systems
  • Broad Institute

External person

Melissa A. Haendel

  • University of Colorado Anschutz Medical Campus
  • NIH
  • University of Colorado Denver
  • Oregon State University

External person

M. Corey

  • Johns Hopkins University
  • University of Toronto
  • Dalla Lana School of Public Health
  • Child Health Evaluative Sciences Program
  • Division of Cystic Fibrosis Research
  • The Research Institute
  • Research Institute

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

Jörg Schmidtke

  • Hannover Medical School
  • Institute of Human Genetics
  • Free University of Berlin
  • Abteilung für Humangenetik
  • Institute of Human Genetics
  • Institute of Human Genetics

External person

Eliete da S. Rodrigues

  • Johns Hopkins University

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

Donna R. Maglott

  • Natl Ctr Biotechnology Info
  • Human Variome Project Planning Meeting 2008
  • NCBI
  • OMIM
  • National Institutes of Health, Bethesda
  • National Institutes of Health

External person

Constance A. Griffin

  • Johns Hopkins University
  • National Institutes of Health, Bethesda
  • Geisinger Medical Center
  • University of South Alabama
  • Oncology Center's
  • Department of Surgery
  • Oncology 1-109
  • GYN
  • Div. Pharmacol. and Exp. Therapeut.
  • Departments of Pathology Urology, and Oncology
  • Department of Pathology
  • McKusick-Nathans Institute of Genetic Medicine
  • The Oncology Center
  • Department of Oncology
  • Division of Infectious Diseases, Department of Medicine
  • Department of Pathology
  • Department of Oncology
  • Department of Pathology and Oncology
  • Center for Biomarker Discovery
  • School of Medicine
  • Department of Pathology
  • Department of Pathology
  • Department of Pathology
  • Division of Infectious Diseases
  • Oncology Center
  • Department of Pathology
  • Department of Oncology
  • The Radiation Oncology Department
  • The Sol Goldman Pancreatic Cancer Research Center
  • Departments of Pathology, Gynecology and Obstetrics and Oncology
  • Department of Pathology
  • Department of Hematology and Oncology
  • Department of Oncology
  • Department of Oncology
  • School of Medicine
  • Department of Neurosurgery
  • Department of OB
  • Department of Urology
  • Department of Pathology
  • The Johns Hopkins Oncology Center
  • Depts. of Oncology and Pediatrics
  • Sol Goldman Pancreatic Cancer Research Center
  • James Buchanan Brady Urological Institute
  • Sidney Kimmel Comprehensive Cancer Center
  • Howard Hughes Medical Institute
  • Laboratory of Cancer Genetics
  • Dept. of Pathol. and Oncology Center
  • Mid-Atlantic Cancer Genetics Network
  • Div. of Experimental Therapeutics
  • Department of Oncology
  • Johns Hopkins Oncology Centre
  • Department of Pathology
  • Departments of Oncology and Pathology
  • Sydney Kimmel Comprehensive Cancer Center
  • Department of Physiology
  • Departments of Medicine and Oncology
  • Department of Oncology
  • Department of Oncology Center
  • Fairview Health Service
  • Oncology Center
  • Division of Comparative Medicine
  • Department of Pathology
  • Ciccarone Center for the Prevention of Cardiovascular Disease
  • Dept. of Biological Chemistry
  • Mahidol University
  • Faculty of Medicine Ramathibodi Hospital

External person

Paul Flicek

  • Peter Maccallum Cancer Centre
  • European Molecular Biology Laboratory
  • Human Variome Project Planning Meeting 2008
  • European Bioinformatics Institute
  • Wellcome Trust
  • Temple University
  • University of Cambridge

External person

Deepak Unni

  • Lawrence Berkeley National Laboratory
  • Environmental Genomics and Systems Biology Division
  • Institut national de la santé et de la recherche médicale
  • Orphanet
  • European Molecular Biology Laboratory

External person

Nancy E. Braverman

  • Johns Hopkins University
  • McGill University
  • Kennedy Krieger Institute
  • Ruhr University Bochum
  • Virginia Commonwealth University
  • McGill University Health Centre
  • McKusick-Nathans Institute of Genetic Medicine
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Orthopaedic Surgery
  • Department of Pediatrics
  • Genetics and Public Policy Studies
  • Department of Human Genetics and Pediatrics
  • Montreal Children's Research Institute
  • McKusick-Nathans Institute of Genetic Medicine
  • McKusick-Nathans Institute of Genetic Medicine
  • Center for Infection and Inflammation Imaging Research
  • McKusick-Nathans Institute of Genetic Medicine
  • Department of Human Genetics and Pediatrics
  • Department of Paediatrics
  • Department of Genetics
  • Institute of Genetic Medicine
  • Department of Human Genetics
  • Department of Pediatrics
  • Department of Cell Biology/Anatomy
  • Department of Human Genetics
  • Department of Neurology
  • Departments of Pediatrics and Medicine
  • McKusick-Nathans Institute of Genetic Medicine
  • Departments of Pediatrics and Human Genetics
  • Division of Neonatology
  • Johns Hopkins Oncology Centre

External person

Ingo Helbig

  • University of Pennsylvania
  • Kiel University
  • Division of Neurology
  • Division of Genomic Diagnostics
  • Department of Neurology
  • Department of Biomedical and Health Informatics
  • Department of Neuropediatrics
  • PURA Syndrome Foundation
  • PURA Syndrome Foundation
  • Columbia University
  • The Children's Hospital of Philadelphia

External person

M. Macek

  • Johns Hopkins University
  • Charles University

External person

Hugh Dawkins

  • Government of Western Australia
  • Public Health Division

External person

Susan M. Bello

  • Jackson Laboratory

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

Michael Gargano

  • Jackson Laboratory
  • Monarch Initiative
  • The Jackson Laboratoryfor Genomic Medicine

External person

Johan den Dunnen

  • Leiden U.
  • Leiden University
  • Human Variome Project Planning Meeting 2008
  • Clinical Epidemiology
  • Departments of Human Genetics and Clinical Genetics
  • Department of Human Genetics

External person

Maria Johnson

  • University of Minnesota Twin Cities
  • Department of Neurology
  • Deparment of Neurology and Pediatrics
  • Zeenat Qureshi Stroke Research Center
  • Johns Hopkins University
  • Fairview Health Service

External person

Sergi Beltran

  • Centro Nacional de Análisis Genómico (CNAG)
  • Centro Nacional de Analisis Genomico
  • Pompeu Fabra University
  • Centre for Genomic Regulation
  • University of Barcelona

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

Danielle R. Azzariti

  • Partners Center for Personalized Genomic Medicine
  • Harvard University
  • Broad Institute

External person

Johan Van Hove

  • University of Colorado Denver
  • KU Leuven
  • Children's Hospital of Colorado
  • Department of Pediatrics
  • Clinical Genetics
  • Department of Pediatrics
  • Department of Pediatrics
  • The Children's Hospital, Aurora
  • University of Colorado Anschutz Medical Campus

External person

Christa Lese Martin

  • Geisinger Medical Center
  • Autism and Developmental Medicine Institute
  • Genomic Medicine Institute
  • Autism & Developmental Medicine Institute
  • University of Tartu
  • Estonian Genome Center
  • Department of Human Genetics
  • Emory University
  • Department of Human Genetics
  • University of California at Los Angeles
  • National Institute of Mental Health (NIMH)
  • Autism and Developmental Medicine Institute
  • Membership of the SPARK Consortium Members is Provided in the Acknowledgements
  • University of Michigan

External person

Victor A. McKusicK

  • Johns Hopkins University
  • University of Geneva
  • University of Maryland, Baltimore
  • University of Helsinki
  • University of Kentucky
  • Division of Medical Genetics, Department of Medicine, Johns Hopkins Hospital Baltimore
  • Division of Infectious Diseases
  • McKusick-Nathans Institute of Genetic Medicine
  • University of Pennsylvania
  • Division of Medical Genetics
  • Dental School
  • McKusick-Nathans Institute of Genetic Medicine
  • Center for Medical Genetics
  • Division of Infectious Diseases, Department of Medicine
  • Department of Medical Genetics
  • Department of Genetics
  • Division of Cardiac Surgery
  • McKusick-Nathans Institute of Genetic Medicine
  • Department of Medicine
  • McGill University
  • University of Oregon
  • Departments of Psychiatry and Pediatrics
  • Department of Medicine
  • Department of Surgery
  • Center for Medical Genetics
  • Department of Medicine
  • Division of Neonatology
  • New York University

External person

Bartha M. Knoppers

  • McGill University
  • University of Alberta
  • University of Montreal
  • Public Law Research Centre (CRDP)
  • Centre of Genomics and Policy
  • Faculty of Law
  • Department of Human Genetics
  • Seoul National University
  • HostSeq Project
  • Kiel University

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

Annie Olry

  • Institut national de la santé et de la recherche médicale
  • Orphanet

External person

Fowzan S. Alkuraya

  • Alfaisal University
  • King Faisal Research Center
  • King Abdulaziz City for Science and Technology
  • King Abdullah University of Science and Technology
  • Division of Biological and Environmental Sciences and Engineering (BESE)
  • Department of Genetics
  • Department of Genetics
  • Saudi Human Genome Project
  • King Faisal Specialist Hospital and Research Centre

External person

Sean Griffith

  • Center for Inherited Disease Research
  • Johns Hopkins University
  • Center for Inherited Disease Research

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

Andreas Zankl

  • University of Queensland
  • University of Sydney
  • Sydney Childrens Hospitals Network (Westmead)
  • Discipline of Genetic Medicine
  • Academic Department of Medical Genetics
  • Sydney Childrens Hospitals Network (Westmead)
  • The Children's Hospital at Westmead
  • Garvan Institute of Medical Research

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

Emily C. Lisi

  • Johns Hopkins University

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

S. Curristin

  • National Cancer Institute United States
  • Johns Hopkins University
  • Pulmonary Branch
  • National Institutes of Health
  • Department of Pediatrics
  • Departments of Neurology and Neuroscience
  • Department of Pediatrics
  • McKusick-Nathans Institute of Genetic Medicine
  • Department of Pediatrics
  • Center for Medical Genetics
  • Divisions of Adult and Pediatric Infectious Diseases
  • Division of Neonatology

External person

Cynthia Smith

  • Johns Hopkins University
  • Carnegie Institution of Washington
  • Jackson Laboratory
  • Department of Embryology

External person

Tim N. Beck

  • Fox Chase Cancer Center
  • Drexel University
  • Molecular and Cell Biology & Genetics Program
  • Program in Molecular Therapeutics
  • Drexel University
  • University of Leicester
  • Department of Genetics

External person

Casie A. Genetti

  • Harvard University
  • The Manton Center for Orphan Disease Research
  • Boston Children's Hospital

External person

Marina DiStefano

  • Partners Personalized Medicine
  • Harvard University
  • Geisinger Medical Center
  • Broad Institute
  • Geisinger Health

External person

Robert R. Freimuth

  • Mayo Clinic Rochester, MN
  • Washington University St. Louis
  • Mayo Clinic Health System-Franciscan Healthcare
  • Gastroenterology Department
  • Department of Health Sciences Research
  • Biomedical Statistics and Informatics
  • Dept. Molec. Pharmacol./Exp. Ther.
  • Mayo Clinic College of Medicine and Science
  • Department of Medicine
  • Biomedical Ethics Program
  • Division of Biomedical Statistics and Informatics
  • Department of Health Sciences Research
  • Department of Health Sciences Research
  • University of Pennsylvania
  • The Children's Hospital of Philadelphia

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

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

Simeon A. Boyadjiev

  • University of California at Davis
  • Johns Hopkins University
  • McKusick-Nathans Institute of Genetic Medicine
  • Section of Genetics
  • Department of Urology
  • McKusick-Nathans Institute of Genetic Medicine
  • Institute of Genetic Medicine
  • McKusick-Nathans Institute of Genetic Medicine
  • James Buchanan Brady Urological Institute
  • McKusick-Nathans Institute of Genetic Medicine
  • Department of Pediatrics
  • McKusick-Nathans Institute of Genetic Medicine
  • Center for Craniofacial Development and Disorders
  • Division of Pediatric Urology
  • Robotics Laboratory
  • Johns Hopkins Oncology Centre
  • Division of Neonatology
  • McKusick-Nathans Institute of Genetic Medicine
  • German Cancer Research Center
  • Division of Clinical Epidemiology and Aging Research
  • Indiana University Bloomington

External person

Tim Putman

  • Department of Environmental and Molecular Toxicology
  • Oregon State University
  • University of Colorado Anschutz Medical Campus

External person

Teresa Lai

  • Johns Hopkins University
  • McKusick-Nathans Institute of Genetic Medicine
  • McKusick-Nathans Institute of Genetic Medicine
  • Johns Hopkins Oncology Centre

External person

Hannah Blau

  • Jackson Laboratory
  • The Jackson Laboratoryfor Genomic Medicine

External person

Reed E. Pyeritz

  • Department of Medicine
  • Johns Hopkins University
  • Allegheny General Hospital
  • University of Pennsylvania
  • Drexel University
  • Virginia Commonwealth University
  • Ghent University
  • St. Jude Children Research Hospital
  • Department of Human Genetics
  • Division of Medical Genetics
  • Department of Human Genetics
  • McKusick-Nathans Institute of Genetic Medicine
  • Cardiology Division
  • Department of Medical Genetics
  • Divisions of Adult and Pediatric Infectious Diseases
  • Department of Medicine
  • Centre for Medical Genetics
  • Dept. of Neurology and Radiology
  • Division of Infectious Diseases
  • Department of Medicine
  • Penn Center for the Integration of Genetic Healthcare Technologies
  • Department of Orthopedic Surgery
  • Division of Pediatric Cardiology
  • Department of Medicine
  • Department of Pediatrics
  • Department of Genetics
  • Medical College of Pennsylvania
  • Cardiop.-Critical Care Div.
  • The Raymond and Ruth Perelman School of Medicine
  • Department of Medicine
  • Department of Pediatrics
  • Division of Pulmonary
  • Division of Medical Genetics
  • Department of Medical Genetics
  • School of Medicine
  • Division of Cardiac Surgery
  • Department of Human Genetics
  • Department of Medical Genetics
  • Center for Medical Genetics
  • Department of Human Genetics
  • McKusick-Nathans Institute of Genetic Medicine
  • Center for Infection and Inflammation Imaging Research
  • Division of Translational Medicine and Human Genetics
  • The Perlman School of Medicine
  • Children’s Hospital of Philadelphia
  • Division of Cardiac Surgery
  • Laboratory of Molecular Genetics
  • National Institute for Health and Welfare
  • Department of Orthopedic Surgery
  • Department of Surgery
  • Division of Hematology
  • Division of Neonatology
  • Medical College of Pennsylvania
  • School of Medicine
  • Wilmer Ophthalmological Institute
  • Depts. of Pediat. and Lab. Medicine
  • Translational Medicine and Human Genetics
  • Departments of Medicine and Genetics
  • Division of Cardiology
  • The Children's Hospital of Philadelphia

External person

Alex H. Wagner

  • University of Iowa
  • Washington University St. Louis
  • Ohio State University
  • Nationwide Children’s Hospital

External person

Yoichi Matsubara

  • Tohoku University
  • Department of Medical Genetics
  • Department of Medical Genetics

External person

Seth Carbon

  • Lawrence Berkeley National Laboratory
  • Environmental Genomics and Systems Biology Division

External person

Leigh Carmody

  • Jackson Laboratory
  • Monarch Initiative
  • Monarch Initiative
  • The Jackson Laboratoryfor Genomic Medicine

External person

Hanns Lochmuller

  • Ludwig Maximilian University of Munich
  • Newcastle University
  • Dept. of Neurology and Gene Center
  • Institute of Genetic Medicine
  • John Walton Muscular Dystrophy Research Centre
  • Institute of Neuroscience
  • Institute of Genetic Medicine
  • Centre hospitalier pour enfants de l'est de l'Ontario
  • University of Ottawa
  • Ottawa Hospital Research Institute
  • University of Freiburg

External person

Marta Girdea

  • University of Toronto
  • Department of Computer Science
  • Centre for Computational Medicine

External person

Angharad M. Roberts

  • Imperial College London
  • Royal Brompton and Harefield NHS Trust
  • University College London
  • Royal Brompton and Harefield NHS Foundation Trust
  • Great Ormond Street Hospital for Children NHS Foundation Trust
  • Royal Brompton Hospital
  • Medical Research Council

External person

James P. Balhoff

  • RTI International
  • University of North Carolina at Chapel Hill
  • RENCI

External person

Taila Hartley

  • Centre hospitalier pour enfants de l'est de l'Ontario

External person

Joachim Bürger

  • Free University of Berlin

External person

Gholson J. Lyon

  • Stanley Institute for Cognitive Genomics
  • Cold Spring Harbor Laboratory
  • Institute for Basic Research
  • University of Utah
  • Department of Psychiatry
  • New York State Office for People with Developmental Disabilities
  • City University of New York
  • University of Toronto
  • University of California at San Francisco
  • Stony Brook University

External person

Marcin P. Joachimiak

  • Lawrence Berkeley National Laboratory
  • Environmental Genomics and Systems Biology Division

External person

Henry Levison

  • Johns Hopkins University
  • University of Toronto
  • Divisions of Immunology/Rheumatology and Chest Medicine
  • Division of Respiratory Diseases
  • Department of Pediatrics
  • CAMP Coordinating Center

External person

Elizabeth Nash

  • Johns Hopkins University
  • School of Medicine
  • McKusick-Nathans Institute of Genetic Medicine

External person

Rebecca Galczynski

  • Kennedy Krieger Institute
  • Cytogenetics Laboratory

External person

Shahim Essaid

  • Oregon Health and Science University
  • University of Colorado Anschutz Medical Campus

External person

Veronika Moslerová

  • Department of Biology and Medical Genetics
  • Charles University

External person

Alice Krebsová

  • University of Toronto
  • Charles University
  • Institute for Clinical and Experimental Medicine
  • Department of Medical Genetics II
  • Inst. of Biol. and Medical Genetics
  • The Research Institute

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

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

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

Richard G H Cotton

  • Royal Children's Hospital
  • St. Vincent's Hospital Melbourne
  • University of Melbourne
  • HVP Planning Meeting
  • Mutation Research Ctr.
  • Human Mutation Genomic Disorders Research Centre
  • Human Variome Project Planning Meeting 2008
  • Genomic Disorders Research Centre
  • Genomic Disorders Research Centre
  • Department of Medicine
  • The Florey Institute of Neuroscience and Mental Health
  • Research Centre
  • Genomic Disorders
  • Human Variome Project International Ltd.
  • Genomic Disorders Research Centre
  • Human Variome Project
  • Florey Institute of Neuroscience and Mental Health

External person

E. Birney

  • European Molecular Biology Laboratory
  • Municipal Institute for Medical Research Hospital del Mar
  • Wellcome Trust

External person

C. Ferec

  • Université de Bretagne Occidentale
  • University of Toronto
  • Laboratoire de Génétique Moléculaire
  • Hôpital Morvan
  • CHU de Brest
  • Institut national de la santé et de la recherche médicale
  • Etablissement français du sang
  • University of Wisconsin-Madison
  • Medical College of Wisconsin
  • U613 (Genetique Moleculaire et Genetique Epidemiologique)
  • CHRU Brest
  • The Research Institute
  • Institut de génétique humaine
  • Department of Pediatrics
  • Department of Pediatrics

External person

Mélanie Courtot

  • European Molecular Biology Laboratory
  • Ontario Institute for Cancer Research

External person

Jessica Duis

  • Johns Hopkins University
  • Division of Neonatology
  • Department of Pediatrics
  • Vanderbilt University
  • University of Colorado Anschutz Medical Campus
  • SequenceMD
  • The Children's Hospital, Aurora

External person

Nicolas Matentzoglu

  • European Molecular Biology Laboratory
  • Semanticly Ltd
  • Monarch Initiative
  • Monarch Initiative
  • Semanticly Ltd
  • Semanticly

External person

Pankaj B. Agrawal

  • Harvard University
  • Divisions of Newborn Medicine and Genetics and Program in Genomics
  • Division of Neonatology
  • Children's Hospital
  • Genom. Prog. and Div. of Genetics
  • Department of Genetics and Genomics
  • Department of Pediatrics
  • Manton Center for Orphan Disease Research
  • Division of Newborn Medicine
  • The Manton Center for Orphan Disease Research
  • Division of Genetics and Genomics
  • Perioperative Pain and Critical Care Medicine
  • Broad Institute
  • University of Miami
  • Boston Children's Hospital

External person

U. Wulbrand

  • Hannover Medical School

External person

D. A. Meyers

  • Wake Forest University
  • University of Maryland, Baltimore
  • Johns Hopkins University
  • National Cancer Institute United States
  • Kennedy Krieger Institute
  • National Institutes of Health
  • MSTF 800
  • Meyer 3-181
  • Center for Human Genomics
  • Division of Clinical Immunology
  • the Johns Hopkins Medical Institutions
  • Center Medicine
  • Department of Pulmonary Rehabilitation
  • Data Coordinating Center
  • Centre for Human Genomics
  • Severe Asthma Research Program (SARP
  • Department of Medicine
  • Center for Genomics and Personalized Medicine Research
  • Division of Infectious Diseases, Department of Medicine
  • Center for Genomics and Personalized Medicine Research
  • School of Medicine
  • Centre for Cancer Genomics
  • Department of Psychiatry
  • Center for Human Genomics
  • Department of Medicine
  • McKusick-Nathans Institute of Genetic Medicine
  • Ctr. Genet. Asthma and Complex Dis.
  • Center for Medical Genetics
  • Departments of Anesthesiology and Critical Care Medicine and Medicine
  • Ctr. for Genet. of Asthma/Complex D.
  • Behavioral Pharmacol. Research Unit
  • Department of Psychiatry and Behavioral Sciences
  • Cancer Genetics Branch
  • Division of Infectious Diseases
  • Univ. of MD Greenebaum Cancer Center
  • Department of Urology
  • Laboratory of Respiratory Biology
  • McKusick-Nathans Institute of Genetic Medicine
  • Department of Psychiatry
  • University of Arizona
  • Center for Human Genomics
  • Department of Pediatrics
  • Division of Neurobiology
  • Center for Cancer Genomics
  • Departments of Psychiatry and Pediatrics
  • Department of Medicine
  • Center for Genomics and Personalized Medicine Research
  • Department of Medicine
  • University of North Carolina at Chapel Hill
  • Department of Medicine
  • Data Coordinating Center
  • Division of Hematology
  • Medicine
  • School of Medicine
  • Ciccarone Center for the Prevention of Cardiovascular Disease
  • Center for Medical Genetics
  • Department of Psychiatry and Behavioral Sciences
  • Center for Medical Genetics
  • Department of Urology
  • Department of Medicine
  • Departments of Pathology and Medicine
  • Department of Psychiatry
  • Henry Ford Health System
  • Center for Health Policy and Health Services Research
  • The National Heart
  • University of Mississippi
  • Stanford University
  • The National Heart
  • The National Heart

External person

D. Zemkova

  • Johns Hopkins University
  • Charles University

External person

Ivo Gut

  • Commissariat à l’énergie atomique et aux énergies alternatives
  • Centro Nacional de Analisis Genomico
  • Centro Nacional de Análisis Genómico (CNAG)
  • Centre Nacional d'Analisi Genomica
  • GENOPOLE
  • Pompeu Fabra University
  • ComUE Paris-Saclay
  • Centre Nacional d'Anàlisi Genòmica
  • GENOPOLE
  • Centro Nacional de Análisis Genómico (CNAG)
  • University of Barcelona
  • Université Paris-Saclay
  • Centre Nationale de Genotypage
  • Centre for Genomic Regulation
  • The Barcelona Institute of Science and Technology
  • Parc Científic de Barcelona
  • University of Oxford

External person

Fiona Cunningham

  • European Molecular Biology Laboratory
  • Cold Spring Harbor Laboratory
  • Wellcome Trust

External person

Ben Hutton

  • Wellcome Sanger Institute
  • Wellcome Trust

External person

Lindsay D. Smith

  • N/A
  • Ontario Institute for Cancer Research
  • Global Alliance for Genomics and Health

External person

Hana Krásničanová

  • Johns Hopkins University
  • Charles University
  • Second Medical Faculty

External person

Peter M. Krawitz

  • University of Bonn

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

Brian J. Laraway

  • University of Colorado Anschutz Medical Campus

External person

Thomas Meitinger

  • Institute of Human Genetics
  • Technical University of Munich
  • Helmholtz Zentrum München - German Research Center for Environmental Health
  • Institute of Human Genetics
  • Institute of Human Genetics
  • Institute of Human Genetics
  • Institute of Human Genetics
  • Institute of Human Genetics
  • University of Iceland
  • Department of Biostatistics
  • Department of Molecular and Clinical Pharmacology
  • University of Liverpool
  • Department of Medicine
  • University of Washington
  • Munich Cluster for Systems Neurology (SyNergy)
  • German Centre for Cardiovascular Research
  • Boston University
  • Istituto di Neurogenetica e Neurofarmacologia
  • National Research Council of Italy
  • Department of Computer Science and Networking
  • Wentworth Institute of Technology
  • DZHK (German Centre for Cardiovascular Research)
  • Research Unit of Molecular Epidemiology
  • Munich Cluster for Systems Neurology (SyNergy)
  • Utrecht University
  • Department of Pulmonology
  • Institute of Genetic Epidemiology
  • Ludwig Maximilian University of Munich
  • Institute of Human Genetics
  • Munich Cluster for Systems Neurology (SyNergy)
  • Imperial College London
  • School of Public Health
  • LMU München
  • Institute of Human Genetics
  • Johns Hopkins University
  • Munich Cluster for Systems Neurology (SyNergy)
  • Partner Site Munich
  • Munich Cluster for Systems Neurology (SyNergy)

External person

Sébastien Küry

  • CHU de Nantes
  • Service de Génétique Médicale
  • Cancer Council Victoria
  • Nantes Université
  • Centre Hospitalier Universitaire (CHU) Nantes

External person

Alice Macková

  • Charles University
  • Center of Medical Genetics
  • Division of Neonatology
  • Johns Hopkins University
  • Department of Medical Genetics II

External person

Christina Austin-Tse

  • Partners HealthCare
  • Laboratory for Molecular Medicine
  • Harvard University
  • Center for Genomic Medicine
  • Cardiac Arrhythmia Service
  • Broad Institute
  • Massachusetts General Hospital
  • Laboratory for Molecular Medicine
  • Mass General Brigham Personalized Medicine

External person

Stylianos E. Antonarakis

  • Johns Hopkins University
  • University of Geneva
  • University of Pennsylvania
  • University of Maryland, Baltimore
  • University of Pittsburgh
  • German Cancer Research Center
  • Cantonal Hospital of Geneva
  • King's College London
  • Imperial College London
  • Birmingham Women's and Children's NHS Foundation Trust
  • Icahn School of Medicine at Mount Sinai
  • Harvard University
  • Rady Children's Hospital
  • Holland Laboratory for Biomedical Sciences
  • Baylor College of Medicine
  • University of California at Los Angeles
  • Northwestern University
  • Cedars-Sinai Medical Center
  • Boston University
  • University of Texas Southwestern Medical Center
  • Municipal Institute for Medical Research Hospital del Mar
  • University of Lausanne
  • Division of Medical Genetics
  • University of Antwerp
  • IGE3 Institute of Genetics and Genomics of Geneva
  • Institute of Genetics and Genomics in Geneva (iGE3)
  • Behavioral Genetics
  • Massachusetts Institute of Technology
  • McKusick-Nathans Institute of Genetic Medicine
  • Department of Pediatrics
  • Department of Pediatrics
  • Center for Medical Genetics
  • Division of Medical Genetics
  • Institute of Medical Genetics
  • Program in Cellular and Molecular Medicine
  • Division of Medical Genetics
  • Hammersmith Hospital
  • Haemostasis Research Group
  • School of Medicine
  • Division de Genetique Medicale
  • Department of Genetic Medicine and Development
  • Division of Medical Genetics
  • Department of Pediatrics
  • Institute of Genetic Medicine
  • Department of Genetics
  • Johns Hopkins University
  • Center for Human Genetics
  • Dept. of Neurology and Radiology
  • The 'Genes 'R' Us' Laboratory of Human Molecular Genetics
  • Center for Medical Genetics
  • Division of Infectious Diseases
  • Department of Pediatrics (Cardiology), Molecular and Human Genetics
  • Division of Medical Genetics
  • Center for Medical Genetics and Departments of Pediatrics and Medicine
  • Department of Genetics
  • Department of Petliatrics
  • Department of Genetics
  • Department of Pediatrics
  • Departments of Pediatrics and Medicine
  • Department of Psychiatry
  • Division of Medical Genetics
  • Center for Medical Genetics
  • Department of Genetic Medicine
  • Division of Medical Genetics
  • Department of Genetics and Microbiology
  • Division of Neonatology
  • Department of Psychiatry
  • Div. de Genet. Medicale
  • Department of Genetics
  • DKFZ
  • Department of Medical Genetics
  • Molecular Genetics Laboratory
  • Behavioral Pharmacol. Research Unit
  • Center for Infection and Inflammation Imaging Research
  • Division of Pediatric Infectious Diseases
  • Division of Neurobiology
  • Department of Psychiatry and Behavioral Sciences
  • Cornea Genetic Eye Institute
  • Division of Pediatric Genetics
  • Department of Genetics and Microbiology
  • Division of Nuclear Medicine and Molecular Imaging
  • Division of Medical Genetics
  • MRC Clinical Research Centre
  • Haemostasis Research Group
  • Institute of Medical Genetics
  • Imperial College Healthcare NHS Trust
  • Genetics Institute
  • Robert J. Kleberg Center for Human Genetics
  • Department of Medicine
  • University of Connecticut
  • Department of Pediatrics
  • Divisions of Adult and Pediatric Infectious Diseases
  • Mayo Clinic Rochester, MN
  • University of Washington
  • Department of Epidemiology
  • Molecular Neurogenetics Laboratory
  • Center for Medical Genetics
  • Department of Neurology
  • McKusick-Nathans Institute of Genetic Medicine
  • Department of Neurology
  • Pediatric Genetics Unit
  • University of Crete
  • Department of Basic Sciences
  • Department of Haematology
  • Kennedy Institute - National Eye Clinic
  • Department of Medical Genetics
  • Institute of Genetics and Genomics in Geneva (iGE3)
  • Department of Pathology
  • Predoctoral Program in Human Genetics
  • Division of Maternal Fetal Medicine
  • iGE3 Institute of Genetics and Genomics of Geneva
  • Centre Medical Universitaire
  • Hôpital Universitaire
  • Centre Médicale Universitaire
  • Centre Médical Universitaire (C.M.U.)
  • Medigenome
  • School of Medicine

External person

Melinda Duke

  • University of Maryland, Baltimore
  • Division of Pediatric Endocrinology
  • University of Maryland Medical System

External person

Charles Lee

  • Harvard University
  • University of Alberta
  • Ewha Womans University
  • Department of Pathology
  • Department of Pathology
  • Department of Pathology
  • Broad Institute
  • Department of Pathology
  • The Jackson Laboratory for Genomics Medicine
  • Department of Life Sciences
  • Dept. of Pathology
  • Massachusetts Institute of Technology
  • Jackson Laboratory
  • Brigham and Women's Hospital and Harvard Medical School
  • Xi'an Jiaotong University
  • Agency for Science, Technology and Research, Singapore
  • Brigham and Women's Hospital

External person

Marc S. Greenblatt

  • University of Vermont
  • Human Variome Project Planning Meeting 2008
  • College of Medicine
  • National Institutes of Health
  • Carcinogenesis Laboratory
  • Department of Medicine and Vermont Cancer Center
  • Lab. of Molecular Carcinogenesis

External person

Yaron Einhorn

  • Franklin by Genoox

External person

Anita L. Hawkins

  • Departments of Pathology Urology, and Oncology
  • Johns Hopkins University
  • The Oncology Center
  • Department of Pathology
  • Oncology Center
  • Department of Pathology
  • Sydney Kimmel Comprehensive Cancer Center
  • Department of Physiology
  • Department of Pathology and Oncology
  • Department of Oncology Center
  • Cancer Genetics, Inc.
  • Department of Pathology
  • Depts. of Oncology and Pediatrics
  • Department of Oncology
  • Department of Oncology
  • Dept. of Pathol. and Oncology Center
  • Cancer Genetics, Inc.

External person

Miro Cupak

  • DNAstack

External person

Inge T. Bernstein

  • University of Copenhagen
  • Department of Surgical Gastroenterology 360
  • The HNPCC-register
  • Tullamore Hospital

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

Marilyn Algire

  • Johns Hopkins University
  • University of Maryland, Baltimore
  • McKusick-Nathans Institute of Genetic Medicine
  • Captain James A. Lovell Federal Health Care Center
  • University of Maryland Medical System

External person

Samantha Baxter

  • Harvard University
  • Program in Medical and Population Genetics
  • Broad Institute

External person

B. Tümmler

  • Hannover Medical School

External person

David J. Cutler

  • Emory University
  • Department of Human Genetics
  • Department of Human Genetics
  • Department of Human Genetics
  • Department of Human Genetics
  • Johns Hopkins University
  • Johns Hopkins Oncology Centre
  • Case Western Reserve University

External person

Zayd Eldadah

  • Washington Hospital Center
  • Department of Pediatrics
  • Johns Hopkins University
  • Division of Cardiology
  • Institute of Genetic Medicine
  • Division of Cardiology
  • Division of Cardiology
  • Department of Medicine
  • Division of Infectious Diseases
  • Cardiac Arrhythmia Center
  • Division of Infectious Diseases, Department of Medicine
  • Division of Cardiology
  • Division of Neonatology
  • McKusick-Nathans Institute of Genetic Medicine
  • MedStar Heart and Vascular Institute
  • School of Medicine

External person

James H. Tepperberg

  • Laboratory Corporation of America
  • Research Triangle Park
  • LabCorp
  • Department of Cytogenetics
  • RTI International
  • Laboratory Corporation of America

External person

Tamanna R. Roshan Lal

  • Johns Hopkins University
  • Institute of Genetic 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

Eric Boerwinkle

  • University of Texas at Austin
  • University of Texas Health Science Center at Houston
  • University of Maryland, Baltimore
  • Baylor College of Medicine
  • Human Genetics Center
  • Helmholtz Zentrum München - German Research Center for Environmental Health
  • Technical University of Munich
  • University of Southern Denmark
  • University of Texas Southwestern Medical Center
  • National Institutes of Health, Bethesda
  • Harvard University
  • University of Washington
  • National Institutes of Health
  • University of Minnesota Twin Cities
  • University of Houston
  • Singapore National Eye Center
  • Division of Epidemiology, School of Public Health, University of Texas Health Science Center
  • IMM Center for Human Genetics, University of Texas School of Public Health
  • Department of Epidemiology, Gillings School of Global Public Health, University of North Carolina
  • RAS E-453
  • Group Health Cooperative
  • Rutgers - The State University of New Jersey, New Brunswick
  • Human Genome Sequencing Center
  • Johns Hopkins University
  • Human Genetics Center and Division of Epidemiology
  • Institute of Molecular Medicine and Division of Epidemiology
  • Human Genetics Center
  • Population Sciences Branch
  • Human Genetics Center
  • Division of Epidemiology
  • School of Public Health
  • Brown Foundation Institute of Molecular Medicine
  • Human Genome Sequencing Center
  • Division of Epidemiology
  • School of Public Health
  • Human Genetics Center
  • Human Genetics Center
  • Department of Medicine
  • Division of Epidemiology
  • Human Genetics Center
  • Brown Foundation Institute of Molecular Medicine for the Prevention of Human Diseases
  • Human Genetics Center and Institute for Molecular Medicine
  • Institute of Molecular Medicine
  • Institute of Molecular Medicine
  • Department of Medicine
  • Institute of Molecular Medicine
  • Department of Epidemiology
  • Division of Epidemiology, Human Genetics and Environmental Sciences
  • Institute for Molecular Medicine
  • Department of Epidemiology
  • The Human Genetics Center and Institute of Molecular Medicine
  • Department of Twin Research and Genetic Epidemiology
  • King's College London
  • Institute of Human Genetics
  • Institute of Human Genetics
  • Department of Statistics and Biostatistics
  • Human Genetics Center
  • Human Genetics Center
  • Department of Human Genetics
  • Human Genetics Center
  • Human Genetics Center
  • Health Sciences Center
  • Health Science Center
  • Human Genetics Center
  • Medical Genetics Institute
  • Cedars-Sinai Medical Center
  • Genome Technology Branch
  • McKusick-Nathans Institute of Genetic Medicine
  • Division of Epidemiology
  • College of Medicine
  • University of Pennsylvania
  • Ludwig Maximilian University of Munich
  • Baylor College of Medicine
  • Klinikum rechts der Isar
  • Population Sciences Branch
  • Department of Medicine
  • Institute of Human Genetics
  • Center for Demographic and Population Genetics
  • University of North Carolina at Chapel Hill
  • Brown Foundation Institute of Molecular Medicine
  • Thyroid Unit
  • Institute of Human Genetics
  • School of Public Health
  • Division of Cardiovascular and Diabetes Medicine
  • Department of Molecular and Clinical Pharmacology
  • University of Liverpool
  • University of Dundee
  • Fred Hutchinson Cancer Research Center
  • Department of Human Genetics
  • Vanderbilt University
  • University of Texas System
  • University of Texas
  • Massachusetts General Hospital
  • Boston Children's Hospital
  • UNC Gillings School of Global Public Health

External person

Susan A. Berry

  • University of Minnesota Twin Cities
  • University of Pittsburgh
  • Division of Blood and Marrow Transplantation
  • Departments of Pediatrics and Genetics
  • Howard Hughes Medical Institute

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

Valentina Cipriani

  • University College London
  • Moorfields Eye Hospital NHS Foundation Trust
  • Department of Ocular Biology and Therapeutics
  • Institute of Ophthalmology
  • Queen Mary University of London

External person

Jill A. Rosenfeld

  • PerkinElmer Inc.
  • Signature Genomics
  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • Signature Genomic Laboratories
  • Harvard University
  • Division of Epilepsy and Clinical Neurophysiology
  • NEN Life Sciences
  • Baylor Genetics, LLC
  • BCM
  • OPKO Health, Inc.
  • National Institutes of Health, Bethesda

External person

Ingrid A. Holm

  • Harvard University
  • Division of Genetics
  • Division of Genetics
  • Division of Genetics and Genomics and the Manton Center for Orphan Diseases Research
  • Department of Genetics and Genomics
  • Department of Pediatrics
  • Manton Center for Orphan Disease Research
  • Center for Genetic Medicine
  • Northwestern University
  • Division of Genetics and Genomics and The Manton Center for Orphan Disease Research
  • National Institutes of Health, Bethesda
  • Broad Institute
  • Boston Children's Hospital

External person

Celide Koerner

  • Johns Hopkins University
  • McKusick-Nathans Institute of Genetic Medicine

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

Chahrzad Montrose-Rafizadeh

  • Johns Hopkins University
  • National Institutes of Health
  • National Kidney Foundation
  • Eli Lilly
  • GRC-NIA
  • Department of Physiology
  • Department of Physiology
  • Departments of Physiology
  • Dept. of Physiology, and Psychology
  • Departments of Medicine and Physiology
  • Department of Physiology
  • Department of Physiology
  • National Institute at Aging
  • National Kidney Foundation

External person

Kathleen Naughton

  • Washington University St. Louis
  • Johns Hopkins University
  • School of Medicine
  • Institute of Genetic Medicine
  • McKusick-Nathans Institute of Genetic Medicine
  • McKusick-Nathans Institute of Genetic Medicine
  • McKusick-Nathans Institute of Genetic Medicine
  • Johns Hopkins Oncology Centre

External person

Courtney Thaxon

  • University of North Carolina at Chapel Hill

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

Dominik Seelow

  • Charité – Universitätsmedizin Berlin
  • Berlin Institute of Health
  • Exploratory Diagnostic Sciences

External person

Han G. Brunner

  • ETZ Elisabeth
  • Maastricht University
  • Radboud University Nijmegen
  • Maastricht UMC+
  • University of New South Wales
  • Department of Human Genetics
  • Department of Clinical Genetics
  • Dementia Collaborative Research Centre-Assessment and Better Care
  • Centre for Neuroscience
  • Nijmegen Medical Centre
  • Institute for Genetic and Metabolic Disorders
  • Department of Clinical Genetics
  • Department of Human Genetics
  • Medical Center
  • Donders Institute for Brain
  • Medical Center

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

Carlo Dionisi-Vici

  • IRCCS Ospedale pediatrico Bambino Gesù - Roma
  • Division of Metabolism
  • Division of Metabolism

External person

Catharina M L Volker-Touw

  • Utrecht University
  • Department of Medical Genetics

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

M. R. Knowles

  • University of North Carolina at Chapel Hill
  • Columbia University
  • Johns Hopkins University
  • Chiron Corp.
  • Division of Otolaryngology-Head and Neck Surgery
  • Cystic Fibrosis/Pulmonary Research and Treatment Center
  • School of Medicine
  • Department of Medicine
  • Department of Pharmacology
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Medicine
  • Center for Medical Genetics
  • Marsico Lung Institute
  • Department of Pediatrics
  • Department of Medicine
  • Department of Pharmacology
  • East Carolina University
  • Marsico Lung Institute/Cystic Fibrosis Research Center
  • Marsico Lung Institute
  • Department of Pediatrics
  • Department of Pharmacology
  • Cystic Fibrosis/Pulmonary Research and Treatment Center
  • School of Medicine
  • Marsico Lung Institute/UNC CF Research Center

External person

T. Dörk

  • Hannover Medical School

External person

Bryan E. Hainline

  • University of Pittsburgh
  • Indiana University Bloomington
  • Washington University St. Louis
  • Indiana University-Purdue University Indianapolis
  • University of Missouri
  • Departments of Pediatrics and Surgery
  • Department of Medical and Molecular Genetics
  • Department of Pediatrics
  • Department of Biological Chemistry
  • Department of Child Health
  • University of Pennsylvania
  • University of Massachusetts Medical School
  • Children's Hospital of Philadelphia
  • Methodist Hospital/Clarian Health Partners

External person

Michael S. Watson

  • American College of Medical Genetics
  • Pediatric Clinical Genetics and Program in Women & Children’s Bioethics
  • Columbia University
  • Washington University St. Louis
  • Pediatric Oncology Group
  • Department of Pediatrics
  • HVP Planning Meeting
  • Yale University
  • Emory University
  • University of Miami
  • Division of Medical Genetics
  • c/o POG Operations Office
  • American College of Medical Genetics
  • Johns Hopkins University
  • Self-employed

External person

Daniel Danis

  • University of Genoa
  • IRCCS Istituto Giannina Gaslini - Genova
  • Jackson Laboratory
  • The Jackson Laboratoryfor Genomic Medicine

External person

W. S. Oetting

  • University of Minnesota Twin Cities
  • Department of Medicine
  • Department of Medicine
  • Department of Experimental and Clinical Pharmacology
  • Department of Medicine

External person

Evan E. Eichler

  • Case Western Reserve University
  • University of Washington
  • Baylor College of Medicine
  • Howard Hughes Medical Institute
  • Dept. of Molec. and Human Genetics
  • Department of Genetics
  • Department of Genome Sciences
  • Department of Genetics
  • Division of Medical Genetics
  • Department of Genome Sciences
  • Howard Hughes Medical Institute and Department of Genome Sciences
  • Department of Genetics
  • Department of Genetics
  • University of Washington
  • Membership of the SPARK Consortium Members is Provided in the Acknowledgements

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

Alan H. Beggs

  • Harvard University
  • The Manton Center for Orphan Disease Research
  • Division of Genetics and Genomics
  • National Institutes of Health, Bethesda
  • Broad Institute
  • Boston Children's Hospital

External person

Stephan Züchner

  • University of Miami
  • Dr. John T. MacDonald Department of Human Genetics and Hussman Institute for Human Genomics
  • John P. Hussman Institute for Human Genomics
  • Department of Human Genetics and Hussman Institute for Human Genomics
  • Department of Neurology
  • Dr. John T. Macdonald Foundation Department of Human Genetics
  • John T. McDonald Department of Human Genetics
  • Department of Human Genetics
  • Department for Human Genetics
  • Department of Neurology
  • Stanford University
  • Vanderbilt University

External person

M. H. Montrose

  • Johns Hopkins University
  • University of Cincinnati
  • Indiana University-Purdue University Indianapolis
  • Centre de Recherche du Centre Hospitalier
  • Dept. of Physiology and Biophysics
  • Departments of Medicine and Physiology, GI Unit
  • Dept. of Physiology
  • Department of Gastroenterology
  • McKusick-Nathans Institute of Genetic Medicine
  • Dept. of Physiology, and Psychology
  • Department of Medicine
  • Department of Physiology
  • Department of Molecular and Cellular Physiology
  • Division of Infectious Diseases
  • Department of Pediatrics
  • Division of Nephrology
  • Department of Physiology
  • Departments of Physiology
  • Pediatric Pulmonary Division
  • Division of Hematology
  • Department of Molecular and Cellular Physiology
  • Division of Gastroenterology
  • McKusick-Nathans Institute of Genetic Medicine
  • Hospitalier de l'Université
  • Université Laval
  • Centre Hospitalier de l’Université Laval

External person

Barbara K. Burton

  • Children's Memorial Hospital
  • University of Pittsburgh
  • Northwestern University
  • Division of Genetics
  • Division of Genetics
  • National Institutes of Health, Bethesda

External person

H. G. Brunner

  • Radboud University Nijmegen
  • Maastricht University
  • Department of Human Genetics
  • Department of Clinical Genetics
  • GROW School for Oncology and Developmental Biology
  • Donders Institute for Brain
  • Department of Human Genetics
  • Dementia Collaborative Research Centre-Assessment and Better Care
  • University of New South Wales
  • GROW School for Oncology and Developmental Biology

External person

W. J. Rhead

  • Medical College of Wisconsin
  • University of Iowa
  • Shinshu University
  • Women's and Children's Hospital Adelaide
  • Council of Regional Networks for Genetic Services (CORN
  • Department of Pediatrics
  • Department of Pediatrics
  • Children's Hospital of Wisconsin Wauwatosa
  • Section of Medical Genetics
  • Department of Pediatrics
  • University of Pittsburgh

External person

Robin Steinhaus

  • Charité – Universitätsmedizin Berlin
  • Berlin Institute of Health
  • Exploratory Diagnostic Sciences

External person

Suzanne Lewis

  • University of British Columbia
  • BC’s Children’s Hospital and Child and Family Research Institute

External person

Ronald Elkins

  • Johns Hopkins University
  • University of Oklahoma
  • Section of Thoracic and Cardiovascular Surgery
  • Department of Surgery
  • Department of Surgery
  • Department of Pathology
  • Department of Urology

External person

David R. Fitzpatrick

  • University of Edinburgh

External person

Carolyn Sue Richards

  • Oregon Health and Science University
  • Baylor College of Medicine
  • American College of Medical Genetics
  • Human Variome Project Planning Meeting 2008
  • Science University
  • Departments of Pediatrics and Molecular and Medical Genetics
  • Baylor DNA Diagnostic Laboratory
  • Knight Diagnostic Laboratories
  • American College of Medical Genetics

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

David J H Brock

  • Johns Hopkins University
  • University of Edinburgh
  • Human Genetics Unit
  • NHS Lothian
  • Laboratory of Molecular Genetics
  • National Institute for Health and Welfare
  • Western General Hospital

External person

Zornitza Stark

  • Murdoch Children's Research Institute
  • Victorian Clinical Genetics Services
  • University of Melbourne
  • Department of Paediatrics
  • Australian Genomics Health Alliance

External person

Marion Keston

  • Johns Hopkins University
  • University of Edinburgh
  • Human Genetics Unit
  • Clinical Genetics Service
  • NHS Lothian
  • Laboratory of Molecular Genetics
  • National Institute for Health and Welfare
  • Department of Pediatrics
  • University of Connecticut
  • University of Connecticut
  • University of Connecticut
  • Western General Hospital

External person

Nikolas Pontikos

  • University College London
  • Department of Ocular Biology and Therapeutics
  • Division of Medicine
  • Moorfields Eye Hospital NHS Foundation Trust

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

Jenny Goldstein

  • University of North Carolina at Chapel Hill
  • Department of Genetics

External person

Tiffany J. Callahan

  • University of Colorado Anschutz Medical Campus
  • University of Colorado Boulder
  • Columbia University

External person

Jonathan S. Berg

  • University of North Carolina at Chapel Hill
  • Department of Genetics
  • Department of Genetics

External person

Roderic Guigo

  • Center for Genomic Regulation
  • Pompeu Fabra University
  • Centre for Genomic Regulation
  • The Barcelona Institute of Science and Technology
  • Municipal Institute for Medical Research Hospital del Mar
  • Hospital del Mar

External person

Angel Carracedo

  • University of Santiago de Compostela
  • Servicio Galego de Saude
  • King Abdulaziz University
  • Genomic Medicine Group
  • Centro de Investigación en Red de Enfermedades Raras
  • Genomic Medicine Group
  • Fundación Publica Galega de Medicina Xenómica
  • Center of Excellence in Genomic Medicine Research
  • Grupo de Medicina Xenómica
  • Genomic Medicine Group
  • Galician Foundation of Genomic Medicine
  • Center for Excellence in Genomics Medicine Research
  • University of Vigo
  • Fundación Pública Galega de Medicina Xenómica
  • Instituto de Investigaciones Sanitarias
  • Centro de Investigación Biomédica en Red
  • Hospital Clínico Universitario de Santiago
  • Fundación Pública Galega de Medicina Xenómica (SERGAS)
  • Idis
  • Complejo Hospitalario Universitario de Santiago

External person

P. W. Miller

  • Johns Hopkins University
  • University of California at Los Angeles

External person

Tomasz Zemojtel

  • Institute of Bioorganic Chemistry of the Polish Academy of Sciences
  • Charité – Universitätsmedizin Berlin
  • Institute for Medical Genetics and Human Genetics
  • Institute of Bioorganic Chemistry
  • Polish Academy of Sciences

External person

D. P. Dimmock

  • University of Pittsburgh
  • Medical College of Wisconsin
  • Baylor College of Medicine
  • Department of Pediatrics
  • Dept. of Molec. and Human Genetics
  • University of Colorado Denver
  • Division of Pulmonary Sciences and Critical Care Medicine
  • University of Colorado Anschutz Medical Campus

External person

Paul N. Schofield

  • University of Cambridge
  • Department of Physiology, Development and Neuroscience
  • Alan Turing Institute
  • Jackson Laboratory

External person

Megan T. Cho

  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx Gaithersburg
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDX Inc
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • Columbia University
  • OPKO Health, Inc.
  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • Johns Hopkins University

External person

Justin Reese

  • Lawrence Berkeley National Laboratory
  • Monarch Initiative

External person

P. Durie

  • Johns Hopkins University
  • University of Toronto
  • Harvard University
  • Physiology and Experimental Medicine Research Program
  • Program in Physiology and Experimental Medicine
  • Department of Pediatrics
  • Department of Pediatrics
  • Dept. Med. Genet. and Med. Biophys.
  • Department of Pediatrics
  • Division of Gastroenterology
  • The Department of Pediatrics
  • Division of Gastroenterology, Hepatology, and Nutrition
  • Division of Gastroenterology
  • The Research Institute
  • Systematic Overviews through Advancing Research Technology

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

Erin Rooney Riggs

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

External person

Anne Cambon-Thomsen

  • Université Paris-Sud
  • Institut national de la santé et de la recherche médicale

External person

Jacques S. Beckmann

  • Swiss Institute of Bioinformatics
  • Service of Medical Genetics
  • University of Lausanne
  • Department of Medical Genetics
  • Department of Medical Genetics
  • University of Montreal
  • Department of Medical Genetics
  • Department of Medical Genetics
  • Service de Génétique Médicale
  • Department of Medical Genetics
  • Department of Epidemiology Research
  • Statens Serum Institut
  • Department of Medical Genetics
  • Département de Génétique Médicale
  • GENOPOLE
  • Genethon

External person

Lauren E. Chan

  • Oregon State University
  • Monarch Initiative

External person

Věra Vávrová

  • Johns Hopkins University
  • Charles University
  • Second Medical Faculty

External person

Matthew Brush

  • Oregon Health and Science University
  • University of Colorado Denver
  • University of Colorado Anschutz Medical Campus
  • National Institutes of Health, Bethesda

External person

Natalie Beck

  • Johns Hopkins University
  • Division of Neonatology
  • McKusick-Nathans Institute of Genetic Medicine
  • Greenberg Center for Skeletal Dysplasias
  • School of Medicine
  • Johns Hopkins Oncology Centre
  • Greenberg Center for Skeletal Dysplasias
  • Genome Medical, Inc.

External person

Michael Baudis

  • Swiss Institute of Bioinformatics
  • University of Zurich

External person

Niyathi Prasad

  • Johns Hopkins University

External person

Madeleine Fannemel

  • University of Oslo
  • Department of Medical Genetics

External person

Morgan N. Similuk

  • National Institutes of Health, Bethesda
  • National Institutes of Allergy and Infectious Diseases
  • National Institutes of Health

External person

Monica E. Lemmon

  • Johns Hopkins University
  • Department of Neurology
  • Departments of Neurology and Pediatrics
  • Pediatric Gastroenterology and Nutrition
  • Department of Neurology
  • Department of Neurology

External person

Manfred Stuhrmann

  • Hannover Medical School
  • Department of Human Genetics, Hannover Medical School
  • Institute of Human Genetics
  • Free University of Berlin
  • Abteilung für Humangenetik
  • Institute of Human Genetics
  • Institute of Human Genetics

External person

F. Lucy Raymond

  • University of Cambridge
  • Cambridge University Hospitals NHS Foundation Trust

External person

Marek Turnovec

  • Department of Biology and Medical Genetics
  • Charles University

External person

Nancy J. Biery

  • Icahn School of Medicine at Mount Sinai
  • Johns Hopkins University
  • Institute of Genetic Medicine
  • McKusick-Nathans Institute of Genetic Medicine
  • McKusick-Nathans Institute of Genetic Medicine
  • Department of Pediatrics
  • Comparative Medicine, John Hopkins

External person

Jagadish Chandrabose Sundaramurthi

  • Jackson Laboratory
  • The Jackson Laboratoryfor Genomic Medicine

External person

Joel B. Krier

  • Harvard University
  • Cardiovascular Division
  • Department of Medicine
  • National Institutes of Health, Bethesda
  • Brigham and Women's Hospital

External person

Francisco Castellanos

  • Jackson Laboratory
  • The Jackson Laboratoryfor Genomic Medicine

External person

Rita Guerreiro

  • University College London
  • University of Aveiro
  • UK Dementia Research Institute
  • Department of Molecular Neuroscience
  • Department of Medical Sciences and Institute of Biomedicine
  • Department of Medical Sciences
  • Department of Neurodegenerative Disease
  • Department of Medical Sciences and Institute of Biomedicine
  • University of Coimbra
  • National Institutes of Health
  • Center for Neurosciences and Cell Biology
  • Laboratory of Neurogenetics
  • Department of Molecular Neuroscience and Reta Lila Weston Institute of Neurological Studies
  • Center for Neurodegenerative Science
  • Van Andel Institute
  • Department of Molecular Neuroscience

External person

Esther Meyer

  • University College London
  • Molecular Medicine Unit
  • Great Ormond Street Hospital for Children NHS Foundation Trust

External person

L. Y. Sakai

  • Icahn School of Medicine at Mount Sinai
  • Johns Hopkins University
  • Oregon Health and Science University
  • Shriners Hospitals for Children
  • Portland Shriners Hospital
  • Department of Biochemistry and Molecular Biology
  • Department of Pediatrics
  • Dept. of Biochem./Molecular Biology
  • Department of Biochemistry
  • Department of Molecular Genetics
  • Research Department
  • Department of Biochemistry and Molecular Biology
  • Shriners Hospital

External person

E. Niedermeyer

  • Johns Hopkins University
  • Universidade Estadual Paulista Júlio de Mesquita Filho
  • Kennedy Krieger Institute
  • Sinai Hospital of Baltimore
  • University of Michigan, Ann Arbor
  • 305 Colonial Court
  • Sinai Hospital
  • Dept. of Neurology
  • Division of Neurology
  • Departments of Neurology and Neurosurgery
  • Department of Neurology
  • Department of Neurology
  • Department of Neurology
  • Department of Neurology
  • Department of Pediatrics
  • Center for Medical Genetics
  • Laboratory of Genetics
  • Department of Neurology and Neurological Sciences
  • Division of Neurology
  • Johns Hopkins University
  • Department of Neurology
  • Departments of Psychiatry and Neurology
  • Department of Biomedical Engineering
  • School of Medicine
  • Center for Infection and Inflammation Imaging Research
  • Department of Biomedical Engineering
  • Department of Neurological Surgery

External person

Henk J. Van Kranen

  • National Institute of Public Health and the Environment

External person

Victor Martinez-Glez

  • Parc Taulí Research and Innovation Institute
  • Institutd'Investigaciói InnovacióParc Taulí(I3PT-CERCA)

External person

Fleur Vansenne

  • University of Groningen

External person

Weihong Gu

  • Chinese HPO Consortium

External person

Marla J.F. O‘Neill

  • Johns Hopkins University

External person

Susan Fairley

  • Global Alliance for Genomics and Health
  • European Molecular Biology Laboratory

External person

Loren D.M. Pena

  • Center for Autoimmune Genomics and Etiology
  • Cincinnati Children's Hospital Medical Center
  • Division of Human Genetics
  • University of Cincinnati
  • University of Pittsburgh
  • Duke University
  • National Institutes of Health, Bethesda

External person

Tanya M. Harrell

  • University of Washington
  • Division of Pulmonary and Sleep Medicine
  • Department of Pediatrics
  • Fred Hutchinson Cancer Research Center

External person

Jennie Wilkins

  • West Virginia University
  • University of Pittsburgh

External person

Mary D. King

  • University College Dublin
  • Children's University Hospital Dublin

External person

S. N. Breiter

  • Department of Radiology
  • Johns Hopkins University
  • Kennedy Krieger Institute
  • Vrije Universiteit Amsterdam
  • Radiology
  • 217 Traylor Building
  • Department of Child Neurology
  • Department of Radiology
  • Department of Developmental Pediatrics
  • Department of Radiology
  • Department of Neurosurgery
  • Department of Radiology
  • Department of Psychiatry
  • Dept. of Radiology/Radiological Sci.
  • Department of Neuroradiology
  • Dept. Radiol. and Radiological Sci.
  • Department of Radiology
  • Department of Radiology and Radiological Science
  • Department of Radiology
  • Department of Psychiatry
  • Department of Radiology
  • The Russell H. Morgan Department of Radiology and Radiological Science
  • Dvision of Neuroradiology
  • Cancer Center Amsterdam

External person

Elizabeth Squibb

  • Kennedy Krieger Institute
  • Cytogenetics Laboratory

External person

Jacob Shujui Hsu

  • National Taiwan University

External person

Rani Singh

  • University of Pittsburgh
  • Emory University
  • Department of Human Genetics and Pediatric

External person

J. MacLean

  • Center for Medical Genetics
  • Johns Hopkins University

External person

Giovanna Fico

  • University of Barcelona

External person

Louise C. Daugherty

  • Healx Ltd.
  • Queen Mary University of London

External person

Boris Fichtman

  • The Azrieli Faculty of Medicine
  • Bar-Ilan University

External person

Marc Fiume

  • DNAstack

External person

Ian R.Phillips

  • Queen Mary University of London

External person

Michael Geraghty

  • University of Ottawa
  • Johns Hopkins University
  • ETZ Elisabeth
  • Northwell Health System
  • Centre hospitalier pour enfants de l'est de l'Ontario
  • Royal Victoria Hospital Barrie
  • Children's Hospital
  • McKusick-Nathans Institute of Genetic Medicine
  • Department of Pediatrics
  • Departments of Dermatology and Pediatrics
  • Department of Laboratory
  • McKusick-Nathans Institute of Genetic Medicine
  • Department of Pediatrics
  • Department of Pathology
  • Division of Medical Genetics
  • McKusick-Nathans Institute of Genetic Medicine
  • Depts. of Pediatrics and Medicine
  • Eye Pathology Laboratory
  • Department of Human Genetics
  • Radboud University Nijmegen
  • McKusick-Nathans Institute of Genetic Medicine
  • Department of Pediatrics
  • Division of Neonatology
  • Department of Medical Genetics
  • School of Medicine
  • Center for Infection and Inflammation Imaging Research
  • McGill University
  • Institute of Genetic Medicine
  • Department of Pediatrics
  • Howard Hughes Medical Institute

External person

Robert T. Zori

  • University of Florida
  • RC Philips Unit
  • Clinical Genetics

External person

Kathleen M. Gorman

  • University College London
  • Great Ormond Street Hospital for Children NHS Foundation Trust

External person

Patrick Tan

  • Johns Hopkins University
  • National Cancer Centre
  • National University of Singapore
  • Laboratory of Inflammation Biology
  • Cancer Science Institute of Singapore
  • Agency for Science, Technology and Research, Singapore
  • Department of Physiology
  • Duke-NUS Graduate Medical School
  • Singapore Health Services
  • Programme in Cancer and Stem Cell Biology
  • Singapore Health Services
  • Duke-NUS Medical School Singapore
  • Singapore Gastric Cancer Consortium
  • Singapore Gastric Cancer Consortium
  • Johns Hopkins Singapore International Medical Centre
  • University of North Carolina at Chapel Hill
  • Precision Health Research

External person

Sony Malhotra

  • Birkbeck University of London

External person

Christopher Gray

  • University of Pennsylvania
  • The Children's Hospital of Philadelphia

External person

Paola Carrera

  • Vita-Salute San Raffaele University
  • Bambino gesÙ children’s hospital
  • Division of Genetics and Cell Biology
  • Diagnostics and Research San Raffaele-Laboraf
  • Clinical Molecular Biology Laboratory
  • San Raffaele Scientific Institute
  • Unit of Genomics for Diagnostics of Human Disease and Laboraf
  • IRCCS Ospedale San Raffaele
  • Diagnostics and Research San Raffaele-Laboraf
  • IRCCS Ospedale pediatrico Bambino Gesù - Roma
  • San Raffaele Scientific Institute

External person

Eric S. Simon

  • University of Michigan, Ann Arbor

External person

Harry Pachajoa

  • Universidad ICESI

External person

J. Rosenecker

  • Ludwig Maximilian University of Munich

External person

Maurice Super

  • Royal Manchester Children's Hospital
  • Pediatric Genetics Unit
  • Manchester University NHS Foundation Trust
  • Johns Hopkins University

External person

Fadia Zagairy

  • The Azrieli Faculty of Medicine
  • Bar-Ilan University

External person

Hart G. Lidov

  • Harvard University
  • Department of Pathology
  • Department of Pathology
  • Department of Pathology
  • Department of Neurology
  • Boston Children's Hospital
  • Brigham and Women's Hospital

External person

Dawn Peck

  • University of Missouri at Kansas City
  • University of Pittsburgh
  • University of Missouri

External person

F. Simard

  • Chicoutimi Hospital
  • Université de Sherbrooke

External person

Nicola Longo

  • University of Utah
  • Department of Pediatrics

External person

Robert C. Green

  • Broad Institute
  • Harvard University
  • Group Health Cooperative
  • Osaka University
  • Ariadne Labs
  • National Institutes of Natural Sciences - National Institute for Physiological Sciences
  • Boston University
  • Brigham and Women's Hospital
  • Johns Hopkins University

External person

Peter Oefner

  • University of Regensburg
  • Institute Offunctional Genomics

External person

Michelle Sahagian

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

External person

Chandra Kiran Jonnalagadda

  • Johns Hopkins University
  • International Tech Park Ltd.
  • Institute of Bioinformatics
  • Institute of Bioinformatics
  • Department of Biological Chemistry
  • McKusick-Nathans Institute of Genetic Medicine

External person

Raghda Zaitoun

  • Ain Shams University

External person

Stefan N. Constantinescu

  • Ludwig Institute for Cancer Research
  • Whitehead Institute for Biomedical Research
  • Université catholique de Louvain
  • The Ludwig Institute for Cancer Research

External person

Michael D. Fountain

  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • Translational Biology and Molecular Medicine Graduate Program
  • Jan and Dan Duncan Neurological Research Institute
  • Texas Children's Hospital Houston

External person

Martin Oti

  • Universidade Federal do Rio de Janeiro
  • Institute of Biophysics Carlos Chagas Filho (IBCCF)

External person

Katsushi Tokunaga

  • The University of Tokyo
  • Department of Human Genetics
  • Stanford University
  • National Center for Global Health and Medicine

External person

Vikram L. Jaswaney

  • Johns Hopkins University
  • Laboratory Corporation of America
  • Division of Maternal Fetal Medicine
  • Department of Cytogenetics
  • Department of Gynecology and Obstetrics
  • Laboratory Corporation of America

External person

Sarah T. South

  • Johns Hopkins University
  • University of Utah
  • Dept. of Biological Chemistry
  • Department of Biology
  • Departments of Pathology and Pediatrics
  • Department of Gynecology and Obstetrics
  • Divisions of Obstetrics and Gynecology
  • Department of Physiology
  • National Institutes of Health
  • Medical Genetics Branch
  • Predoctoral Training Program in Human Genetics
  • Department of Pediatrics
  • Division of Maternal Fetal Medicine
  • Department of Gynecology and Obstetrics

External person

Suyash Prasad

  • Eli Lilly
  • Genzyme Therapeutics Ltd
  • BioMarin Pharmaceutical Inc.

External person

Daynna J. Wolff

  • Medical University of South Carolina
  • Department of Pathology and Laboratory Medicine

External person

April Hall

  • University of Wisconsin-Madison

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

Seon Hee Yim

  • The Catholic University of Korea

External person

Machelle Dawson

  • University of Nebraska-Lincoln
  • University of Pittsburgh

External person

Fan Xia

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

External person

Mallory A. Freeberg

  • European Molecular Biology Laboratory

External person

Verayuth Praphanphoj

  • Johns Hopkins University
  • Kennedy Krieger Institute
  • McKusick-Nathans Institute of Genetic Medicine
  • Department of Pediatrics
  • Center for Infection and Inflammation Imaging Research
  • Division of Neonatology

External person

Isabelle Crawford

  • Johns Hopkins University
  • Department of Physiology
  • Department of Physiology
  • University of Massachusetts Medical School

External person

Neil Golder

  • Royal Manchester Children's Hospital
  • Pediatric Genetics Unit
  • Manchester University NHS Foundation Trust
  • Johns Hopkins University

External person

Carla Rosenberg

  • Rady Children's Hospital
  • Johns Hopkins University
  • Leiden University
  • Universidade de São Paulo
  • Division of Maternal Fetal Medicine
  • Department of Genetics and Evolutionary Biology
  • Molecular Genetics Laboratory
  • Department of Medicine
  • Department of Gynecology and Obstetrics
  • McKusick-Nathans Institute of Genetic Medicine
  • Department of Molecular Cell Biology
  • Department of Obstetrics and Gynecology

External person

Daniel Keith

  • Department of Environmental and Molecular Toxicology
  • Oregon State University

External person

Elisha D.O. Roberson

  • Kennedy Krieger Institute
  • Institute of Genetic Medicine
  • Johns Hopkins University
  • Department of Neurology
  • Washington University St. Louis
  • Department of Genetics
  • Department of Neurology
  • Hugo Moser Institute at Kenney Krieger
  • McKusick-Nathans Institute of Genetic Medicine
  • Hugo W Moser Research Institute

External person

Laura Travan

  • IRCCS Ospedale Infantile Burlo Garofolo - Trieste
  • Institute for Maternal and Child Health

External person

Annick Raas-rothschild

  • Tel Aviv University
  • Hadassah University Medical Centre
  • Institute of Rare Diseases
  • The Gertner Institute

External person

Erin B. Kaminsky

  • Emory University
  • Department of Human Genetics

External person

Bettina C. Hilman

  • Louisiana State University in Shreveport
  • Childhood Interstitial Lung Disease (chILD)
  • Cystic Fibrosis Center
  • American Thoracic Society Committee

External person

Amy Harper

  • Virginia Commonwealth University
  • Department of Neurology
  • Carolinas Pediatric Neurology Care

External person

Harshad Hegde

  • Lawrence Berkeley National Laboratory

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

K. Grade

  • Max Delbrück Center for Molecular Medicine in the Helmholtz Association

External person

H. C. Nousari

  • Johns Hopkins University
  • Virginia Commonwealth University
  • Medical University of Warsaw
  • Children's Hospital Denver
  • Goa Medical College
  • Division of Dermatoimmunology
  • Department of Dermatology
  • Department of Dermatology
  • Division of Dermatoimmunology
  • Johns Hopkins Medical Institutions
  • Division of Dermatoimmunology
  • Department of Dermatology
  • Department of Dermatology
  • Kurume University
  • Dept. of Pathol. and Oncology Center
  • Department of Dermatology
  • Keio University
  • Department of Dermatology
  • Department of Pediatric Dermatology
  • Division of Infectious Diseases
  • Department of Pathology
  • The California State University
  • German Cancer Research Center
  • Dept. of Molecular Genome Analysis
  • Department of Human Genetics
  • Department of Biology
  • Department of Dermatology
  • Department of Dermatology
  • University of Campania Luigi Vanvitelli
  • Universidade Federal do Rio de Janeiro
  • Department of Dermatology, Venereology, and Leprology
  • Departments of Dermatology
  • Department of Dermatology
  • McKusick-Nathans Institute of Genetic Medicine
  • Medical University Sofia
  • Department of Dermatology and Venereology
  • Servico de Dermatologia
  • Tel Aviv University
  • Department of Dermatology
  • Goa University
  • Departments of Pediatrics, Medicine, Oncology, and Radiation Oncology
  • Department of Dermatology
  • McKusick-Nathans Institute of Genetic Medicine
  • Department of Biology
  • California State University Northridge
  • School of Medicine

External person

Stephan J. Sanders

  • University of Oxford

External person

Robert F. Selden

  • University of Virginia
  • Department of Pediatrics

External person

Kamyar Keramatian

  • University of British Columbia

External person

R. Wack

  • Carroll Health Group

External person

I. Saira Mian

  • Lawrence Berkeley National Laboratory
  • Department of Cell and Molecular Biology (MS 74-197)

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

Yoko Aoki

  • Tohoku University
  • Department of Medical Genetics
  • Department of Medical Genetics

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

D. Sandler

  • University of Florida

External person

Kyle Retterer

  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx Gaithersburg
  • 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

Saumya S. Jamuar

  • Harvard University
  • KK Women's and Children's Hospital
  • Department of Genetics and Genomics
  • Department of Pediatrics
  • Manton Center for Orphan Disease Research
  • Department of Paediatrics
  • National University of Singapore
  • Duke-NUS Medical School Singapore
  • Singapore Health Services
  • Boston Children's Hospital

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

Michael Sammeth

  • Institute of Biophysics Carlos Chagas Filho (IBCCF)
  • Universidade Federal do Rio de Janeiro
  • Institute of Biophysics Carlos Chagas Filho (IBCCF)
  • Laboratório Nacional de Computação Científica
  • Centre for Genomic Regulation
  • Centro Nacional de Análisis Genómico (CNAG)

External person

Melissa M. Lees

  • University College London
  • Clinical Genetics Unit
  • Department of Clinical Genetics
  • London
  • Great Ormond Street Hospital for Children NHS Foundation Trust
  • Great Ormond Street Hospital NHS Foundation Trust

External person

Kishore R. Kumar

  • Garvan Institute of Medical Research
  • Kolling Institute of Medical Research
  • Concord Repatriation General Hospital

External person

Alvis Brazma

  • European Molecular Biology Laboratory
  • Wellcome Trust

External person

Robert J. Carroll

  • Vanderbilt University
  • Department of Medicine
  • Division of Pulmonary and Critical Care
  • Department of Biomedical Informatics
  • Eskind Biomedical Library
  • Departments of Biomedical Informatics and Medicine
  • Department of Biomedical Informatics
  • Department of Biomedical Informatics
  • Department of Epidemiology
  • University of Michigan, Ann Arbor
  • Department of Epidemiology

External person

Karin Panzer

  • University of Iowa
  • Department of Pediatrics

External person

Maurizio Genuardi

  • University of Florence
  • Clinical Pathophysiology

External person

Francisca Millan

  • GeneDx
  • GeneDx
  • GeneDx Gaithersburg
  • 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
  • OPKO Health, Inc.

External person

Eric Y. Zhao

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

External person

Tom Conlin

  • Department of Environmental and Molecular Toxicology
  • Oregon State University

External person

Caleb P. Bupp

  • Spectrum Health

External person

B. Kerem

  • Hebrew University of Jerusalem
  • University of Toronto
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics

External person

Sheela Shrestha

  • Ann and Robert H. Lurie Children's Hospital of Chicago
  • University of Pittsburgh
  • Ann and Robert H. Lurie Children's Hospital of Chicago

External person

Rebecca E. Foulger

  • University College London
  • SciBite Limited
  • Queen Mary University of London

External person

Jerry Vockley

  • University of Pittsburgh
  • Mayo Clinic Rochester, MN
  • Department of Medical Genetics
  • Department of Pediatrics
  • Department of Human Genetics
  • Department of Pediatrics
  • Division of Medical Genetics
  • Department of Pediatrics
  • Department of Human Genetics
  • Department of Pediatrics
  • Department of Human Genetics
  • Department of Medical Genetics
  • Department of Pediatrics
  • Department of Human Genetics

External person

Hanno Steen

  • Harvard University
  • University of Southern Denmark
  • Indiana University Bloomington
  • Protein Interaction Laboratory at the Center for Experimental Bioinformatics
  • Protein Interaction Laboratory
  • Center for Experimental Bioinformatics
  • Center for Experimental Bioinformatics (CEBI)
  • Department of Chemistry
  • Department of Cell Biology
  • Dept. of Biochem. and Molec. Biology
  • Boston Children's Hospital

External person

Julie Lauzon

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

External person

Rosalyn S. Ryan

  • Bicgen Foundation Inc.

External person

D. Osumi-Sutherland

  • Wellcome Trust
  • European Molecular Biology Laboratory

External person

Nina Hallowell

  • University of Oxford

External person

Britt Marie Anderlid

  • Karolinska Institutet
  • Department of Molecular Medicine and Surgery
  • Department of Clinical Genetics

External person

Laura L. Stewart

  • University of British Columbia

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

Shekeeb S. Mohammad

  • University of Sydney
  • The Children's Hospital at Westmead
  • University College London

External person

Kent A. Shefchek

  • Department of Environmental and Molecular Toxicology
  • Oregon State University
  • University of Colorado Anschutz Medical Campus

External person

Inge B. Mathijssen

  • University of Amsterdam
  • Department of Clinical Genetics
  • Academic Medical Center

External person

D. W. Bartholomew

  • University of Pittsburgh
  • Johns Hopkins University
  • McGill University
  • Nationwide
  • Department of Genetics
  • Department of Pediatrics
  • University of Colorado Denver
  • John F. Kennedy Institute
  • Duke University
  • Department of Biology
  • Division of Internal Medicine
  • Department of Pediatrics
  • Div. of Clinical Immunology/Allergy
  • University of Colorado Anschutz Medical Campus
  • Nationwide Children’s Hospital

External person

Lynn M. Schriml

  • University of Maryland, Baltimore

External person

Jing Wang

  • Baylor College of Medicine
  • Ambry Genetics

External person

Julia Rankin

  • Royal Devon & Exeter NHS Foundation Trust

External person

Akiko Ichinohe

  • Tohoku University
  • Department of Medical Genetics
  • Department of Medical Genetics

External person

Cathy Turner

  • Newcastle University
  • John Walton Muscular Dystrophy Research Centre

External person

N. Padma

  • International Tech Park Ltd.
  • Institute of Bioinformatics
  • Institute of Bioinformatics
  • International Technology Park

External person

Ivonne U.S. Leong

  • Queen Mary University of London
  • Genomics England

External person

Sarah E. Leigh

  • Queen Mary University of London
  • Genomics England

External person

Martin J. Larsen

  • University of Southern Denmark

External person

Paul Hamosh

  • Georgetown University
  • Dept. of Physiology and Biophysics

External person

Marjan M. Weiss

  • Vrije Universiteit Amsterdam
  • Department of Pathology
  • Department of Gastroenterology
  • Clinical Genetics
  • University of Washington
  • Cancer Center Amsterdam

External person

Colyn Cain

  • Johns Hopkins University
  • Department of Gynecology and Obstetrics
  • Department of Gynecology and Obstetrics

External person

Angela Pipitone Dempsey

  • Johns Hopkins University

External person

Yasunori Yamamoto

  • Joint Support-Center for Data Science Research

External person

Caterina Lucano

  • Institut national de la santé et de la recherche médicale

External person

Elke de Boer

  • Radboud University Nijmegen

External person

Brett H. Graham

  • Baylor College of Medicine
  • Emory University
  • Human Genome Sequencing Center
  • Department of Molecular and Human Genetics
  • Department of Genetics and Molecular Medicine
  • Texas Children's Hospital Houston
  • Indiana University Bloomington
  • National Institutes of Health, Bethesda

External person

Phillip Weller

  • Geisinger Health

External person

W. Andrew Faucett

  • Emory University
  • Geisinger Medical Center
  • Geisinger Health
  • Department of Human Genetics
  • Genome Medicine Institute

External person

K. H. Gan

  • Leyenburg Ziekenhuis

External person

Yoichi Furukawa

  • The University of Tokyo
  • Center for Experimental Medicine

External person

Denis Azzopardi

  • Imperial College London
  • Hammersmith Hospital
  • Imperial College Healthcare NHS Trust

External person

Margot R F Reijnders

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

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

Lance Rodan

  • Division of Neurology
  • Department of Genetics and Genomics
  • Harvard University
  • Department of Neurology
  • National Institutes of Health, Bethesda
  • Boston Children's Hospital

External person

Davide Piscia

  • Centre for Genomic Regulation

External person

Ania Niewielska

  • European Molecular Biology Laboratory

External person

Luis Rohena

  • University of Texas Health Science Center at San Antonio
  • Brooke Army Medical Center
  • Department of Pediatrics
  • United States Army
  • San Antonio Military Medical Center
  • Long School of Medicine
  • UT Health Science San Antonio

External person

Hiba Risheg

  • LabCorp/Dynacare
  • Laboratory Corporation of America
  • Dynacare Laboratories

External person

Myles Axton

  • Human Variome Project Planning Meeting 2008
  • Nature Genetics
  • Nature Publishing Group, USA
  • John Wiley & Sons, Inc.

External person

Paul A. Greenberger

  • Johns Hopkins University
  • Oregon Health and Science University
  • Northwestern University
  • Northwestern University Feinberg School of Medicine
  • AAAAI - American Academy of Allergy
  • Department of Medicine
  • Center for Medical Genetics
  • Division of Allergy-Immunology
  • EAACI - European Academy of Allergy and Clinical Immunology
  • Division of Allergy and Immunology
  • Division of Allergy and Immunology

External person

Daniela T. Pilz

  • The University of Chicago
  • University Hospital of Wales
  • Cardiff University
  • Queen Elizabeth University Hospital
  • Department of Clinical Genetics
  • Division of Cancer and Genetics
  • Institute for Medical Genetics
  • Department of Human Genetics
  • Institute of Medical Genetics
  • University Hospital of Wales
  • West of Scotland Genetics Service
  • Queen Elizabeth University Hospital
  • Cardiff & Vale University Health Board

External person

R. C. Dale

  • University of Sydney
  • Institute for Neuroscience and Muscle Research
  • Neuroimmunology Group
  • The Children's Hospital at Westmead
  • Kids Neuroscience Centre

External person

M. A. Ramya

  • International Tech Park Ltd.
  • Institute of Bioinformatics
  • Institute of Bioinformatics
  • International Technology Park

External person

Victoria Suslovitch

  • Harvard University
  • Boston Children's Hospital

External person

Tara Chandra Narumanchi

  • University of Pittsburgh
  • West Virginia University

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

Erik Eklund

  • Sanford Burnham Prebys Medical Discovery Institute
  • Glycobiology and Carbohydrate Chemistry Program
  • Lund University

External person

Mark H. Paalman

  • Wiley-Blackwell
  • Human Mutation
  • Department of Biological Chemistry
  • Johns Hopkins University
  • John Wiley & Sons, Inc.
  • McKusick-Nathans Institute of Genetic Medicine
  • Wiley Periodicals LLC

External person

Jair A.Tenorio Castano

  • University Hospital La Paz

External person

Mark Hughes

  • NHS Lothian
  • Western General Hospital

External person

Manuel Rueda

  • Centre for Genomic Regulation

External person

K. Harms

  • Ludwig Maximilian University of Munich

External person

Emilio Palumbo

  • Pompeu Fabra University
  • Centre for Genomic Regulation

External person

Sean V. Tavtigian

  • International Agency for Research on Cancer
  • University of Utah
  • Myriad Genetics, Inc.
  • Human Variome Project Planning Meeting 2008
  • Division of Pediatric Hematology and Oncology, Department of Oncological Sciences
  • Myriad Genetics, Inc.

External person

G. D. Efremov

  • Harvard University
  • Macedonian Academy of Sciences and Arts

External person

Robert Hofstra

  • University of Groningen
  • Erasmus University Rotterdam
  • Case Western Reserve University
  • University College London
  • Department of Medical Genetics
  • Department of Clinical Genetics
  • Department of Genetics
  • Department of Medical Genetics
  • Stem Cells and Regenerative Medicine
  • Dept. Epidemiol. (Metro Hlth. Camp.)
  • Department of Genetics
  • Neural Development and Gastroenterology Units
  • Neural Development Unit

External person

Jennifer R. Friedman

  • University of California at San Diego
  • Departments of Neurosciences and Pediatrics
  • Rady Children’s Institute for Genomic Medicine
  • Rady Children's Hospital

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

Volker Straub

  • University of Iowa
  • Newcastle University
  • Institute of Human Genetics
  • Department of Physiology
  • Department of Physiology and Biophysics
  • John Walton Muscular Dystrophy Research Centre
  • Institute of Human Genetics
  • Institute of Genetic Medicine
  • Department of Neurology
  • Newcastle upon Tyne Hospitals NHS Foundation Trust

External person

Vincent d’Hardemare

  • Hopital de la Fondation Rothschild

External person

Jim Kaput

  • Nestle
  • Clinical Translation Unit
  • Division of Personalised Nutrition and Medicine
  • United States Food and Drug Administration

External person

Kathleen W. Rao

  • University of North Carolina at Chapel Hill
  • Departments of Pediatrics and Pathology
  • Division of Laboratory Animal Medicine

External person

Emmelien Aten

  • Leiden University
  • Department of Clinical Genetics

External person

Tiffany F. Boughtwood

  • Murdoch Children's Research Institute
  • Australian Genomics Health Alliance

External person

Raymond G. Slavin

  • Johns Hopkins University
  • Saint Louis University
  • Harvard University
  • AHCPR
  • Department of Internal Medicine
  • Division of Immunology
  • Center for Medical Genetics
  • Department of Medicine
  • Washington University St. Louis
  • St Louis Asthma Clinical Research Center
  • Boston Children's Hospital

External person

Petra Fey

  • Northwestern University

External person

Neil Mahant

  • Westmead Hospital

External person

Rana El-Garhy

  • Ain Shams University

External person

Maria K. Palmquist

  • University of South Dakota
  • Genetics and Public Policy Studies
  • Johns Hopkins University

External person

Moran Cabili

  • Harvard University
  • Department of Stem Cell and Regenerative Biology
  • Massachusetts Institute of Technology
  • Department of Systems Biology
  • Broad Institute

External person

Heikki Lehvaslaiho

  • European Molecular Biology Laboratory
  • CSC - IT Center for Science Ltd.

External person

Terri M. King

  • University of Texas MD Anderson Cancer Center
  • Department of Epidemiology
  • Johns Hopkins University
  • Department of Epidemiology
  • Department of Surgical Oncology
  • Department of Epidemiology
  • University of Texas Health Science Center at Houston

External person

Martin Lindner

  • Goethe University Frankfurt
  • Heidelberg University 
  • Department of Neurology
  • Division of Child Neurology and Inherited Metabolic Diseases
  • Ulm University

External person

Conor Fearon

  • University of Toronto
  • University College Dublin

External person

Lauren Reader

  • Johns Hopkins University
  • McKusick-Nathans Institute of Genetic Medicine

External person

William E. Dobyns

  • Children's Hospital and Regional Medical Center Seattle
  • University of Pennsylvania
  • The University of Chicago
  • University of Minnesota Twin Cities
  • Greenwood Genetic Center
  • D136 Mayo Memorial Building
  • University of Washington
  • Department of Pediatrics
  • Department of Neurology
  • Department of Pediatrics
  • Division of Pediatric Neurology
  • Developmental Disorders Group
  • Department of Neurology
  • Department of Neurology
  • Department of Pediatrics
  • Department of Human Genetics
  • Department of Pediatrics
  • Seattle Children's Research Institute
  • Center for Integrative Brain Research
  • Department of Neurology
  • Seattle Children’s Research Institute
  • Seattle Children's Research Institute
  • University of Washington
  • The Children's Hospital of Philadelphia
  • Seattle Children's Hospital

External person

Julian A. Martínez-Agosto

  • University of California at Los Angeles
  • Department of Human Genetics
  • National Institutes of Health, Bethesda

External person

Christopher E. Bradburne

  • Johns Hopkins Applied Physics Laboratory
  • PC2-Z Program
  • Johns Hopkins University
  • Asymmetric Operations Department
  • McKusick-Nathans Institute of Genetic Medicine
  • Applied Physics Laboratory
  • Asymmetric Operations Department

External person

Peter Stenson

  • Cardiff University
  • Institute of Medical Genetics
  • Institute of Medical Genetics

External person

C. Coutelle

  • Max Delbrück Center for Molecular Medicine in the Helmholtz Association

External person

Elizabeth Blue

  • University of Washington
  • Department of Medicine

External person

Martin Kuba

  • Masaryk University

External person

J. Anderton

  • University of Pittsburgh

External person

Young I. Yeom

  • Medical Genomics Research Center
  • Korea Research Institute of Bioscience and Biotechnology

External person

David Lewis-Smith

  • Newcastle upon Tyne Hospitals NHS Foundation Trust
  • Newcastle University

External person

Renee A. Rider

  • National Institutes of Health

External person

Suh Young Jeong

  • Oregon Health and Science University

External person

Francis M. Filloux

  • University of Utah
  • Departments of Psychiatry and Pharmacology
  • Department of Psychiatry
  • Departments of Pharmacology and Psychiatry
  • Western Institute of Neuropsychiatry
  • Western Institute of Neuropsychiatry

External person

J. Spona

  • University of Vienna

External person

Y. Freudenberg-Hua

  • University of Bonn
  • Northwell Health System

External person

Willem H. Ouwehand

  • University of Cambridge
  • Wellcome Sanger Institute
  • NHS Blood and Transplant
  • Harvard University
  • University of Oxford
  • National Health Service
  • NHS Blood and Transplant
  • Addenbrooke's Hospital
  • Wellcome Trust
  • Department of Haematology
  • Department of Haematology
  • Department of Human Genetics
  • Division of Endocrinology and Center for Basic and Translational Obesity Research
  • Oxford NIHR Biomedical Research Centre
  • Cambridge Centre
  • Cambridge Centre
  • Department of Public Health and Primary Care
  • Cambridge University Hospitals NHS Foundation Trust
  • NHS Blood and Transplant
  • National Institute for Health Research (NIHR)
  • Strangeways Research Laboratory
  • Department of Public Health and Primary Care
  • Department of Public Health and Primary Care
  • Oxford University Hospitals NHS Foundation Trust
  • National Institute for Health and Care Research

External person

Laura Lyman Rodriguez

  • National Institutes of Health
  • Epidemiology and Genetics Research Program
  • Division of Policy
  • Health Research Affairs
  • Patient-centered Outcomes Research Institute (PCORI)

External person

J. Toone

  • University of British Columbia
  • Department of Pediatrics
  • Division of Pediatric Neurology

External person

Melissa Samons

  • University of Pittsburgh
  • Women and Children's Hospital of Buffalo

External person

Vidya Niranjan

  • Institute of Bioinformatics
  • International Tech Park Ltd.
  • Institute of Bioinformatics
  • Institute of Bioinformatics
  • Institute of Bioinformatics
  • International Technology Park

External person

Kristina Kekesi-Lafrance

  • Global Alliance for Genomics and Health
  • McGill University

External person

Berit Kerner

  • University of California at Los Angeles
  • Center for Culture and Health

External person

Jay A. Perman

  • Department of Pediatrics
  • Johns Hopkins University
  • Kennedy Krieger Institute
  • University of Toronto
  • James Buchanan Brady Urological Institute
  • United States Air Force Academy
  • Universidade Federal do Rio Grande do Sul
  • Mount Washington Pediatric Hospital
  • Division of Pediatric Gastroenterology and Nutrition
  • University of Maryland, Baltimore
  • Division of Pediatric Infectious Diseases
  • Center for Infection and Inflammation Imaging Research
  • Department of Pediatrics
  • Division of Neonatology
  • Division of Gastroenterology
  • The Department of Pediatrics
  • Department of Immunology and Infectious Diseases
  • Departments of Medicine and Pathology
  • Department of Pediatrics
  • Institute of Genetic Medicine
  • Department of Pediatrics
  • Division of Pediatric Gastroenterology and Nutrition
  • University of Maryland Medical System
  • Department of Pediatrics
  • Department of Pediatrics
  • Johns Hopkins Breastfeeding Center
  • Department of Neurology
  • Divisions of Adult and Pediatric Infectious Diseases

External person

Margaret P. Adam

  • University of Washington
  • Department of Human Genetics
  • Emory University
  • Department of Pediatrics
  • Division of Pulmonary and Sleep Medicine

External person

Serena Scollen

  • University of Cambridge
  • Department of Public Health and Primary Care
  • ELIXIR Hub

External person

Thabo Michael Yates

  • University of Edinburgh

External person

Ming Qi

  • Department of Pathology and Laboratory Medicine
  • University of Rochester
  • Zhejiang University

External person

Aarno Palotie

  • University of Helsinki
  • Wellcome Sanger Institute
  • Broad Institute
  • Harvard University
  • Basque Foundation for Science
  • FIMM
  • Wellcome Trust
  • Department of MedicalGenetics
  • Stanley Center for Psychiatric Research
  • Department of Epidemiology
  • Psychiatric and Neurodevelopmental Genetics Unit
  • Institute for Molecular Medicine Finland
  • Institute for Molecular Medicine Finland
  • Institute for Molecular Medicine Finland FIMM
  • Division of Endocrinology and Center for Basic and Translational Obesity Research
  • Department of Neurology
  • Program in Medical and Population Genetics
  • Department of Medical Genetics
  • Department of Medicine
  • Program in Translational NeuroPsychiatric Genomics
  • Stanley Center for Psychiatric Research and Program in Medical and Population Genetic
  • Thyroid Unit
  • Massachusetts Institute of Technology
  • Analytic and Translational Genetics Unit
  • Biological/Biomedical Sciences Prog.
  • Harvard Medical School
  • Harvard Medical School
  • Genetic Epidemiology Group
  • Department of Medicine
  • Department of Medical Genetics
  • Department of Clinical Chemistry
  • Schizophrenia Clinical and Research Program
  • Department of Epidemiology
  • Ikerbasque Basque Foundation for Science
  • Human Genetics
  • FIMM
  • Department of Neurology
  • Center for Genomic Medicine
  • Stroke Service
  • Program in Medical and Population Genetics
  • Center for Human Genetic Research
  • The Department of Biological Sciences
  • University of Southern California
  • Medical and Population Genetics
  • Michael J. Fox Foundation for Parkinson's Research
  • National Institutes of Health, Bethesda
  • Helsinki University Central Hospital
  • Massachusetts General Hospital
  • Boston Children's Hospital

External person

I. Graupner

  • Municipal Hospital

External person

Barbara Burton

  • Ann and Robert H. Lurie Children's Hospital of Chicago
  • University of Pittsburgh
  • Ann and Robert H. Lurie Children's Hospital of Chicago

External person

Bernard Mercier

  • University of Toronto
  • Ctr. Transfus. Sang./Biogenet.
  • The Research Institute

External person

Mutaz Amin

  • Institut national de la santé et de la recherche médicale

External person

M. Macek

  • Johns Hopkins University
  • Charles University

External person

Levinus A. Bok

  • Department of Pediatrics
  • M'xima Medical Center

External person

Neeti Ghali

  • Imperial College London
  • Northwick Park Hospital

External person

N. P. Carter

  • Wellcome Sanger Institute
  • Wellcome Trust
  • Cancer Genome Project

External person

Paul Kruszka

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

External person

Ian Green

  • SNOMED International

External person

Brian D. O'Connor

  • University of North Carolina at Chapel Hill
  • Broad Institute
  • Sage Bionetworks

External person

Linda S. De Vries

  • Utrecht University
  • Department of Neonatology
  • Department of Neonatology
  • Department of Neonatology

External person

Nefize Yalin

  • Departments of Psychology and Neuroscience
  • King's College London

External person

David R. Murdock

  • Department of Molecular and Human Genetics
  • Human Genome Sequencing Center
  • Baylor College of Medicine
  • National Institutes of Health
  • National Institutes of Health, Bethesda

External person

Shigeo Kure

  • Tohoku University
  • Department of Medical Genetics
  • Department of Medical Genetics

External person

Roland Krause

  • University of Luxembourg
  • Luxembourg Centre for Systems Biomedicine

External person

Fruzsina Molnár-Gábor

  • Heidelberg Academy of Sciences and Humanities

External person

Antonio Novelli

  • Laboratory of Medical Genetics
  • IRCCS Ospedale pediatrico Bambino Gesù - Roma

External person

Katie Scott

  • Dalhousie University

External person

David Lagorce

  • Institut national de la santé et de la recherche médicale

External person

Ender Karaca

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

External person

Hui Xiong

  • Chinese HPO Consortium

External person

François Aguet

  • Harvard University
  • Broad Institute
  • Massachusetts Institute of Technology

External person

B. M. Freeman

  • Johns Hopkins University

External person

Sondhya Ghedia

  • Royal North Shore Hospital
  • Department of Clinical Genetics
  • Marche Polytechnic University

External person

April Rahrig

  • GeneDx
  • GeneDx
  • GeneDx
  • Advocate Children's Hospital
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • Department of Pediatrics
  • 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
  • OPKO Health, Inc.

External person

Meredith W. Allain

  • Stanford University

External person

Barbara J. Wold

  • California Institute of Technology
  • Division of Biology
  • Division of Biology and Biological Engineering

External person

C. E. Harris

  • Carroll Health Group

External person

Akemi J. Tanaka

  • Columbia University

External person

Vineeth Surendranath

  • International Tech Park Ltd.
  • Institute of Bioinformatics

External person

S. M. Cashman

  • Trinity College Dublin
  • Dublin Univ

External person

Aly Khalifa

  • Mayo Clinic Rochester, MN

External person

Susan Tweedie

  • European Molecular Biology Laboratory

External person

Jiunn Liang Chen

  • Johns Hopkins University
  • Arizona State University

External person

Jessica Scott Schwoerer

  • University of Pittsburgh
  • University of Wisconsin

External person

Toshihiro Tanaka

  • Department of Human Genetics and Disease Diversity
  • Tokyo Medical and Dental University
  • RIKEN
  • Laboratory for Cardiovascular Diseases
  • Department of Human Genetics and Disease Diversity
  • Centre for Genome Medicine
  • Department of Human Genetics and Disease Diversity

External person

Swasti Pal

  • Sir Ganga Ram Hospital

External person

Roman Valls Guimera

  • University of Melbourne

External person

M. de Braekeleer

  • Université du Québec à Chicoutimi

External person

C. Allard

  • Chicoutimi Hospital
  • Université de Sherbrooke

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

Elizabeth Webb

  • Genomic Disorders Research Centre

External person

Minal Menezes

  • International Tech Park Ltd.
  • Institute of Bioinformatics
  • Institute of Bioinformatics
  • International Technology Park

External person

Marc Hanauer

  • Institut national de la santé et de la recherche médicale

External person

Lee Jun Wong

  • Baylor College of Medicine
  • Dept. of Molec. and Human Genetics

External person

Tim M. Strom

  • Technical University of Munich
  • Helmholtz Zentrum München - German Research Center for Environmental Health

External person

Lincoln D. Stein

  • University of Toronto
  • Ontario Institute for Cancer Research

External person

Michael Feolo

  • National Institutes of Health

External person

Gaetan Poulen

  • Universite de Montpellier
  • Hôpital Gui de Chauliac
  • CHU Montpellier

External person

Knox Carey

  • Gene Cloud

External person

Lena I. Dolman

  • University of Toronto
  • McMaster University
  • Johns Hopkins University
  • Broad Institute
  • Arizona State University

External person

Suzana Ezquina

  • Universidade de São Paulo
  • Center for Human Genome and Stem-cell Research (HUG-CELL)

External person

Anna V. Anagnostopoulos

  • Johns Hopkins University
  • Jackson Laboratory

External person

Bruno Maranda

  • Université Laval
  • Centre Hospitalier Universitaire Laval
  • Department of Pediatrics
  • Service de Génétique Médicale

External person

Sergio Rosemberg

  • Dept. of Pathology
  • Universidade de São Paulo
  • Universidade de São Paulo
  • Department of Pathology

External person

Augusto Rendon

  • University of Cambridge
  • Harvard University
  • NIHR Cambridge Biomedical Research Centre
  • Department of Haematology
  • Division of Endocrinology and Center for Basic and Translational Obesity Research
  • NHS Blood and Transplant
  • National Institute for Health Research (NIHR)
  • Strangeways Research Laboratory
  • Department of Public Health and Primary Care
  • National Institute for Health and Care Research
  • Genomics England
  • Boston Children's Hospital

External person

James Ostell

  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • J. Craig Venter Institute
  • National Center for Bioinformatics

External person