David Koeller

Professor and Division Head

Calculated based on number of publications stored in Pure and citations from Scopus
1986 …2023

Research activity per year

Network

A. Balasubramanyam

  • Baylor College of Medicine
  • Model Organism Screening Center
  • Department of Neurology
  • National Institutes of Health, Bethesda
  • Department of Neurology
  • National Institutes of Health
  • BCM

External person

Stephen I. Goodman

  • University of Colorado Health Sciences Center
  • Univ. of Colorado Health Sci. Center
  • Department of Pediatrics
  • School Medicine University of Colorado
  • Children's Mercy Hospitals and Clinics
  • School Medicine University of Colorado Denver
  • University of Colorado Denver
  • University of Colorado at Denver
  • University of Colorado Denver
  • University of Colorado-Denver
  • Colorado School of Medicine
  • Department of Pediatrics
  • VA Medical Center
  • School of Medicine
  • Clinical Genetics and Metabolism
  • University of Colorado Anschutz Medical Campus
  • University of Colorado Department of Pediatrics

External person

Carlos Bacino

  • Baylor College of Medicine
  • Model Organism Screening Center
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Texas Children's Cancer Center
  • Department of Molecular and Human Genetics
  • Baylor Genetics
  • Department of Pediatrics
  • Department of Molecular and Human Genetics
  • Medical Genetics Laboratories
  • Department of Molecular and Human Genetics
  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • Baylor Genetics, LLC
  • Texas Children's Hospital Houston
  • BCM

External person

David R. Adams

  • National Institutes of Health
  • Office of the Director
  • Office of the Clinical Director
  • Undiagnosed Diseases Program
  • Undiagnosed Disease Program
  • National Institutes of Health Undiagnosed Diseases Program
  • Undiagnosed Diseases Network
  • Undiagnosed Diseases Network

External person

Mercedes E. Alejandro

  • Model Organism Screening Center
  • Baylor College of Medicine
  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • BCM

External person

Mahshid Azamian

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

External person

Patrick Allard

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

External person

David Bick

  • Medical College of Wisconsin
  • National Institutes of Health, Bethesda
  • HudsonAlpha
  • Department of Pediatrics
  • HudsonAlpha Institute of Biotechnology
  • National Institutes of Health
  • HudsonAlpha Institute for Biotechnology

External person

Stefan Kölker

  • University Children's Hospital
  • Division of Inborn Metabolic Diseases
  • University Children's Hospital Heidelberg
  • University Hospital Heidelberg
  • Univ. Children's Hospital Heidelberg
  • Div. of Metab. and Endocr. Diseases
  • Department of General Paediatrics
  • Department of General Pediatrics
  • Heidelberg University 
  • Dept. of General Pediatrics
  • Department of General Pediatrics
  • Department of General Pediatrics
  • Div. of Metab. and Endocr. Diseases
  • Centre for Pediatric and Adolescent Medicine
  • Center for Pediatric and Adolescent Medicine

External person

Alan H. Beggs

  • Harvard University
  • National Institutes of Health
  • Division of Genetics and Genomics
  • UDN Coordinating Center
  • Harvard
  • Broad Institute
  • Boston Children's Hospital

External person

Camille L. Birch

  • National Institutes of Health, Bethesda
  • HudsonAlpha
  • National Institutes of Health
  • HudsonAlpha Institute for Biotechnology

External person

Anna Bican

  • Vanderbilt University
  • National Institutes of Health, Bethesda
  • National Institutes of Health

External person

Jonathan A. Bernstein

  • Department of Pediatrics
  • Stanford University
  • National Institutes of Health
  • Center for Undiagnosed Diseases
  • Lucille Packard Children's Hospital

External person

Euan A. Ashley

  • Stanford University
  • Department of Medicine
  • Center for Undiagnosed Diseases
  • Department of Genetics
  • Center for Inherited Cardiovascular Disease
  • Division of Cardiovascular Medicine
  • Division of Cardiovascular Medicine
  • National Institutes of Health

External person

Michael Woontner

  • University of Colorado Health Sciences Center
  • School Medicine University of Colorado
  • Department of Pediatrics
  • School Medicine University of Colorado Denver
  • Univ. of Colorado Health Sci. Center
  • Univ. of Colorado Hlth. Sci. Center
  • University of Colorado Denver
  • University of Colorado at Denver
  • University of Colorado-Denver
  • University of Colorado Denver
  • Colorado School of Medicine
  • Department of Pediatrics
  • Clinical Genetics and Metabolism
  • VA Medical Center
  • School of Medicine
  • University of Colorado Anschutz Medical Campus
  • University of Colorado Department of Pediatrics

External person

Lindsay C. Burrage

  • Baylor College of Medicine
  • National Institutes of Health, Bethesda
  • Model Organism Screening Center
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • National Institutes of Health
  • Texas Children's Hospital Houston
  • BCM

External person

Georg F. Hoffmann

  • University Children's Hospital
  • Howard Hughes Medical Institute
  • University Children's Hospital of Heidelberg
  • University of Heidelberg
  • George Washington University
  • University Hospital Heidelberg
  • University Children's Hospital Heidelberg
  • Zentrum für Kinder- und Jugendmedizin
  • Department of General Paediatrics
  • Department of General Pediatrics
  • Heidelberg University 
  • Div. of Metab. and Endocr. Diseases
  • Division of Pediatric Pulmonology
  • Department of Pediatrics
  • Department of General Pediatrics
  • Centre for Pediatric and Adolescent Medicine
  • Center for Pediatric and Adolescent Medicine
  • Department of Pediatrics

External person

Jürgen G. Okun

  • University Children's Hospital
  • University Children's Hospital of Heidelberg
  • University Children's Hospital Heidelberg
  • Univ. Children's Hospital Heidelberg
  • Department of General Paediatrics
  • Department of General Pediatrics
  • Div. of Metab. and Endocr. Diseases
  • Heidelberg University 
  • Department of General Pediatrics

External person

Bret L. Bostwick

  • Baylor College of Medicine
  • National Institutes of Health
  • BCM

External person

Gabriel F. Batzli

  • National Institutes of Health, Bethesda
  • National Institutes of Health

External person

Braden E. Boone

  • National Institutes of Health, Bethesda
  • HudsonAlpha
  • National Institutes of Health
  • HudsonAlpha Institute for Biotechnology

External person

Hayk Barseghyan

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

External person

Lauren C. Briere

  • National Institutes of Health, Bethesda
  • Harvard University
  • UDN Coordinating Center
  • National Institutes of Health
  • Harvard
  • Massachusetts General Hospital

External person

Donna M. Brown

  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • HudsonAlpha
  • HudsonAlpha Institute for Biotechnology

External person

Hugo J. Bellen

  • National Institutes of Health
  • Baylor College of Medicine
  • Department of Neuroscience
  • Department of Molecular and Human Genetics
  • Jan and Duncan Neurological Research Institute
  • Program in Developmental Biology
  • Model Organism Screening Center
  • University of Montreal
  • Texas Children's Hospital Houston
  • BCM

External person

Chris Mühlhausen

  • University Medical Center Hamburg-Eppendorf
  • Department of Biochemistry
  • University Medical Centre
  • University Medical Center
  • University of Hamburg
  • University Medical Center Hamburg-Eppendorf
  • Children's Hospital
  • Department of Pediatrics
  • University of Göttingen

External person

Moacir Wajner

  • Hospital de Clínicas de Porto Alegre
  • Universidade Federal do Rio Grande do Sul
  • Departamento de Bioquímica
  • Serviço de Genética Médica
  • Departement de Pediatrie et Maladies Metaboliques
  • Medical Genetics Service
  • Université Paris 5
  • Université Paris Cité

External person

G. D. Clark

  • Washington University School of Medicine
  • Baylor College of Medicine
  • Washington University St. Louis
  • National Institutes of Health, Bethesda
  • Model Organism Screening Center
  • Departments of Pediatrics
  • Departments of Anatomy and Neurobiology
  • Texas Children's Cancer Center
  • National Institutes of Health
  • BCM

External person

Joy D. Cogan

  • Vanderbilt University
  • National Institutes of Health, Bethesda
  • Department of Pediatrics
  • National Institutes of Health

External person

Elizabeth A. Burke

  • National Institutes of Health
  • National Institutes of Health, Bethesda
  • Undiagnosed Diseases Program (UDP)
  • Office of the Clinical Director

External person

Sven W. Sauer

  • University Children's Hospital
  • University Children's Hospital of Heidelberg
  • University Children's Hospital Heidelberg
  • Univ. Children's Hospital Heidelberg
  • Department of General Paediatrics
  • Department of General Pediatrics
  • Heidelberg University 
  • Department of General Pediatrics
  • Department of General Pediatrics

External person

William J. Craigen

  • Baylor College of Medicine
  • National Institutes of Health, Bethesda
  • Model Organism Screening Center
  • Institute for Molecular Genetics
  • Diagnostic Sequencing Laboratory
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • National Institutes of Health
  • BCM

External person

Lisa T. Emrick

  • National Institutes of Health, Bethesda
  • Model Organism Screening Center
  • Baylor College of Medicine
  • Texas Children's Cancer Center
  • Department of Molecular and Human Genetics
  • Division of Neurology and Developmental Neuroscience and Department of Pediatrics
  • National Institutes of Health
  • BCM

External person

Devon Bonner

  • Stanford University
  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • Center for Undiagnosed Diseases

External person

Thalia Wood

  • Agence de Medecine Preventive
  • Alaska Division of Public Health
  • Association of Public Health Labs
  • Agence de Médecine Préventive
  • Association of Public Health Laboratories
  • Alaska Division of Public Health

External person

Diogo Onofre Gomes de Souza

  • Universidade Federal do Rio Grande do Sul
  • Universidade Federal do Rio Grande do sul
  • Departamento de Bioquímica

External person

John A. Phillips

  • Vanderbilt University
  • Department of Pediatrics
  • National Institutes of Health, Bethesda
  • Department of Pediatrics
  • National Institutes of Health

External person

Thomas O. Metz

  • Pacific Northwest National Laboratory
  • Oregon Health Sciences University
  • Oregon Health and Science University
  • Undiagnosed Disease Network
  • Biological Sciences Division
  • Fundamental Sciences Division
  • Biological Separation and Mass Spectrometry Group
  • Fundamental and Computational Sciences Directorate
  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • Monte Westerfield
  • Monte Westerfield
  • Pacific Northwest National Laboratory

External person

Christine Eng

  • Baylor College of Medicine
  • Baylor Genetics
  • Model Organism Screening Center
  • Baylor Miraca Genetics Laboratories
  • Department of Molecular and Human Genetics
  • Dept of Molecular and Human Genetics
  • Texas Children's Cancer Center
  • National Institutes of Health, Bethesda
  • Molecular and Human Genetics
  • Whole Genome Laboratory
  • Baylor Genetics, LLC
  • National Institutes of Health
  • Membership of the SPARK Consortium Members is Provided in the Acknowledgements
  • BCM

External person

Mariska Davids

  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • Undiagnosed Diseases Program (UDP)
  • Office of the Director
  • Undiagnosed Diseases Program

External person

Brendan Lee

  • Howard Hughes Medical Institute
  • Baylor College of Medicine
  • George Washington University
  • National Institutes of Health, Bethesda
  • Howard Hughes Medical Institutes
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Dept of Molecular and Human Genetics
  • Department of Pediatrics
  • Department of Pediatrics
  • National Institutes of Health
  • Texas Children's Hospital Houston
  • BCM

External person

Hugo J. Bellen

  • Department of Neuroscience, BCM
  • Baylor College of Medicine
  • BCM
  • Howard Hughes Medical Institute
  • University of Montreal
  • Department of Neuroscience
  • Department of Molecular and Human Genetics
  • Jan and Duncan Neurological Research Institute
  • Developmental Biology
  • Department of Pediatrics
  • Department of Neuroscience, BCM
  • Department of Molecular and Human Genetics
  • Program in Developmental Biology
  • Department of Neuroscience, BCM
  • Department of Neuroscience, BCM
  • Department of Neuroscience, BCM
  • Jan and Dan Duncan Neurological Research Institute
  • Jan and Dan Duncan Neurological Research Institute
  • National Institutes of Health
  • Texas Children's Hospital Houston

External person

Eva Baker

  • Radiology and Imaging Sciences
  • National Institutes of Health

External person

Jill Rosenfeld

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

External person

Rizwan Hamid

  • National Institutes of Health, Bethesda
  • Vanderbilt University
  • Department of Pediatrics
  • National Institutes of Health

External person

Shan Chen

  • National Institutes of Health
  • Model Organism Screening Center
  • Baylor College of Medicine

External person

Michael F. Wangler

  • Model Organism Screening Center
  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • Jan and Duncan Neurological Research Institute
  • Program in Developmental Biology
  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • Texas Children's Cancer Center
  • Developmental Biology
  • BCM
  • Texas Children's Hospital Houston

External person

Bradford D. Gessner

  • Agence de Medecine Preventive
  • Alaska Division of Public Health
  • Immeuble JB Say
  • Agence de Médecine Préventive
  • Agence de Médecine Préventive
  • Agence de Médecine Préventive
  • EpiVac Consulting
  • Agence de Medecine Preventive
  • Agence de Medecine Preventive
  • Agency of Preventive Medicine
  • Pfizer
  • Alaska Division of Public Health

External person

Jennifer E. Kyle

  • Pacific Northwest National Laboratory
  • Biological Sciences Division
  • Earth and Biological Sciences Directorate
  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • Undiagnosed Diseases Network
  • Undiagnosed Diseases Network
  • Pacific Northwest National Laboratory

External person

Bianca Seminotti

  • Universidade Federal do Rio Grande do Sul
  • Universidade Federal de Rio Grande Do sul
  • Departamento de Bioquímica

External person

Annika M. Dries

  • National Institutes of Health, Bethesda
  • Stanford University
  • Center for Undiagnosed Diseases
  • National Institutes of Health

External person

Shweta U. Dhar

  • Model Organism Screening Center
  • Baylor College of Medicine
  • National Institutes of Health, Bethesda
  • Department of Molecular and Human Genetics
  • National Institutes of Health
  • Texas Children's Hospital Houston

External person

Shinya Yamamoto

  • Baylor College of Medicine
  • Jan and Dan Duncan Neurological Research Institute
  • Jan and Dan Duncan Neurological Research Institute
  • Department of Neuroscience
  • Jan and Duncan Neurological Research Institute
  • Department of Molecular and Human Genetics
  • Program in Developmental Biology
  • Jan and Dan Duncan Neurological Research Institute
  • Jan and Dan Duncan Neurological Research Institute
  • Jan and Dan Duncan Neurological Research Institute
  • National Institutes of Health, Bethesda
  • Department of Molecular and Human Genetics
  • Jan and Dan Duncan Neurological Research Institute
  • BCM
  • National Institutes of Health
  • Developmental Biology
  • Model Organism Screening Center
  • Texas Children's Hospital Houston

External person

Cynthia J. Tifft

  • National Institutes of Health
  • National Institutes of Health, Bethesda
  • Office of the Clinical Director
  • Undiagnosed Diseases Program
  • Medical Genetics Branch
  • Undiagnosed Diseases Program
  • Office of the Director
  • Undiagnosed Diseases Network
  • Undiagnosed Diseases Network

External person

Kurt Ullrich

  • University Medical Center Hamburg-Eppendorf
  • Department of Biochemistry
  • University Medical Center
  • University of Hamburg
  • Children's Hospital
  • University Medical Center Hamburg-Eppendorf
  • Department of General Pediatrics
  • Department of Pediatrics

External person

Camilo Toro

  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • Undiagnosed Diseases Program (UDP)
  • Undiagnosed Diseases Program
  • Office of the Clinical Director
  • Office of the Director
  • Undiagnosed Diseases Program
  • Undiagnosed Diseases Network
  • Undiagnosed Diseases Network

External person

Neil A. Hanchard

  • National Institutes of Health, Bethesda
  • Baylor College of Medicine
  • Model Organism Screening Center
  • Department of Pediatrics
  • Texas Children's Cancer Center
  • Department of Molecular and Human Genetics
  • Department of Human and Molecular Genetics
  • National Institutes of Health
  • Texas Children's Hospital Houston
  • BCM

External person

Peter Burgard

  • University Children's Hospital Heidelberg
  • University Hospital Heidelberg
  • University Children's Hospital
  • Department of General Pediatrics
  • Heidelberg University 
  • Centre for Child and Adolescent Medicine
  • Department of General Pediatrics
  • Department of General Paediatrics
  • Centre for Pediatric and Adolescent Medicine
  • Center for Pediatric and Adolescent Medicine

External person

Jennefer N. Kohler

  • National Institutes of Health, Bethesda
  • Stanford University
  • Center for Undiagnosed Diseases
  • Department of Genetics
  • National Institutes of Health

External person

Gerard T. Berry

  • Boston Children's Hospital, Harvard Medical School
  • Johns Hopkins University
  • Harvard University
  • Division of Genetics and Genomics
  • Department of Pediatrics
  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • Broad Institute
  • Harvard
  • Boston Children's Hospital

External person

Monte Westerfield

  • 5291 University of Oregon
  • 1254 University of Oregon
  • University of Oregon
  • Model Organisms Screening Center (MOSC)
  • Institute of Neuroscience
  • Institute of Neuroscience
  • Zebrafish Information Network
  • Institute of Neuroscience
  • Institute of Neuroscience
  • Department of Biology
  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • UO MOSC

External person

Carsten Bonnenmann

  • National Institutes of Health

External person

Seema R. Lalani

  • Model Organism Screening Center
  • Baylor College of Medicine
  • National Institutes of Health, Bethesda
  • Department of Molecular and Human Genetics
  • Texas Children's Cancer Center
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Pediatrics
  • Medical Genetics Laboratories
  • National Institutes of Health
  • Baylor Genetics, LLC
  • Texas Children's Hospital Houston
  • BCM

External person

Justin Alvey

  • University of Utah

External person

Dustin Baldridge

  • Washington University St. Louis

External person

Stephanie Bivona

  • University of Miami

External person

Pinar Bayrak-Toydemir

  • University of Utah
  • Department of Pathology

External person

Mahim Jain

  • Baylor College of Medicine
  • National Institutes of Health, Bethesda
  • Model Organism Screening Center
  • Kennedy Krieger Institute
  • Department of Molecular and Human Genetics
  • Department of Bone and Osteogenesis Imperfecta
  • Shriners Hospitals for Children
  • University of Oxford
  • National Institutes of Health

External person

Richard A. Lewis

  • Baylor College of Medicine
  • National Institutes of Health
  • Texas Children's Hospital Houston
  • BCM

External person

Jordan S. Orange

  • Harvard University
  • National Institutes of Health, Bethesda
  • Baylor College of Medicine
  • Center for Human Immunobiology
  • Texas Children's Cancer Center
  • Department of Pediatrics
  • Center for Human Immunobiology
  • Division of Immunology
  • Division of Pediatric Immunology
  • Columbia University
  • Current affiliation: Department of Pediatrics
  • National Institutes of Health
  • Texas Children's Hospital Houston
  • Boston Children's Hospital

External person

Sarah K. Nicholas

  • National Institutes of Health, Bethesda
  • Baylor College of Medicine
  • Model Organism Screening Center
  • Department of Pediatrics
  • Center for Human Immunobiology
  • Texas Children's Cancer Center
  • National Institutes of Health
  • Texas Children's Hospital Houston
  • BCM

External person

J. B. Harford

  • National Institutes of Health
  • National Institutes of Health
  • RiboGene Inc.
  • RiboGene, Inc.
  • Cell Biology and Metabolism Branch

External person

Jyoti G. Dayal

  • National Institutes of Health, Bethesda
  • National Institutes of Health

External person

Ashley Andrews

  • University of Utah

External person

Deborah Barbouth

  • University of Miami

External person

Alexandre Umpierrez Amaral

  • Universidade Federal do Rio Grande do Sul
  • Universidade Federal de Rio Grande Do sul
  • Departamento de Bioquímica

External person

P. B. Agrawal

  • Harvard University
  • Manton Center for Orphan Disease Research
  • Division of Newborn Medicine
  • Division of Genetics and Genomics
  • Division of Genetics and Genomics and the Manton Center for Orphan Disease Research
  • Broad Institute
  • Harvard
  • Boston Children's Hospital

External person

Thomas Braulke

  • University Medical Center Hamburg-Eppendorf
  • University Medical Center
  • University of Hamburg
  • Children's Hospital
  • University Medical Center Hamburg-Eppendorf
  • Department of Pediatrics

External person

Nicole Walley

  • Duke University
  • National Institutes of Health
  • Duke Nashville

External person

N. Dorrani

  • University of California at Los Angeles
  • University of California
  • UCLA Geffen School of Medicine
  • National Institutes of Health, Bethesda
  • Department of Human Genetics
  • Department of Human Genetics
  • National Institutes of Health

External person

Lorraine Potocki

  • Baylor College of Medicine
  • Model Organism Screening Center
  • Department of Molecular and Human Genetics
  • National Institutes of Health, Bethesda
  • Department of Molecular and Human Genetics
  • National Institutes of Health
  • Texas Children's Hospital Houston
  • BCM

External person

Vandana Shashi

  • Duke University
  • National Institutes of Health
  • Duke Nashville

External person

Babak Behnam

  • National Institutes of Health, Bethesda
  • National Institutes of Health

External person

Jennifer E. Posey

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

External person

John Bohnsack

  • University of Utah

External person

Linda S. Crnic

  • University of Colorado Denver
  • Department of Pediatrics
  • Department of Psychiatry
  • University of Colorado Anschutz Medical Campus
  • University of Colorado Department of Pediatrics

External person

Maria T. Acosta

  • Children's National Health System
  • Gilbert NF Institute
  • Children's National Hospital
  • National Institutes of Health
  • Children's National Medical Center

External person

Cynthia M. Cooper

  • National Institutes of Health, Bethesda
  • Harvard University
  • UDN Coordinating Center
  • National Institutes of Health
  • Harvard
  • Massachusetts General Hospital

External person

William A. Gahl

  • National Institutes of Health
  • Medical Genetics Branch
  • Undiagnosed Diseases Network
  • Undiagnosed Diseases Network

External person

John H. Newman

  • Vanderbilt University
  • National Institutes of Health

External person

Loren D M Pena

  • National Institutes of Health, Bethesda
  • Division of Medical Genetics
  • Department of Pediatrics
  • Duke University
  • Department of Pediatrics Duke Health
  • National Institutes of Health
  • Cincinnati Children's Hospital Medical Center
  • Department of Pediatrics
  • University of Pittsburgh
  • University of Cincinnati

External person

Gill Bejerano

  • Department of Biomedical Data Science
  • Stanford University
  • Department of Pediatrics
  • Department of Developmental Biology
  • Computer Science Department
  • Stanford University

External person

James F. Bale

  • University of Utah
  • Primary Children's Medical Center
  • Department of Pediatrics
  • University of Iowa
  • Department of Pediatrics
  • Department of Pediatrics

External person

Cheryl R. Greenberg

  • University of Manitoba
  • Department of Biochemistry and Medical Genetics

External person

Guney Bademci

  • University of Miami

External person

R. D. Klausner

  • National Institutes of Health
  • National Institutes of Health
  • NIH
  • Cell Biology and Metabolism Branch
  • Surgery Branch
  • RiboGene, Inc.

External person

Kelly G. Stratton

  • Pacific Northwest National Laboratory
  • Computing & Analytics Division
  • Computational and Statistical Analysis Division
  • National Security Directorate
  • Undiagnosed Diseases Network
  • Undiagnosed Diseases Network
  • Pacific Northwest National Laboratory

External person

John H. Postlethwait

  • University of Oregon
  • Model Organisms Screening Center (MOSC)
  • Institute of Neuroscience
  • National Institutes of Health, Bethesda
  • Institute of Neuroscience
  • National Institutes of Health
  • UO MOSC

External person

J. L. Casey

  • National Institutes of Health
  • Georgetown University
  • National Institutes of Health
  • Department of Microbiology
  • Cell Biology and Metabolism Branch

External person

Carolina Gonçalves Fernandes

  • Universidade Federal do Rio Grande do Sul
  • Departamento de Bioquímica

External person

Isaac S. Kohane

  • Harvard University
  • UDN Coordinating Center
  • Division of Sleep Medicine
  • Center for Biomedical Informatics
  • Informatics Program
  • Program in Genomics
  • National Institutes of Health
  • Harvard
  • Boston Children's Hospital
  • Brigham and Women’s Hospital
  • Massachusetts General Hospital

External person

Hsiao Tuan Chao

  • Baylor College of Medicine
  • Texas Children's Cancer Center
  • Jan and Duncan Neurological Research Institute
  • Developmental Biology
  • Department of Neuroscience
  • BCM
  • Department of Pediatrics
  • BCM
  • Texas Children's Hospital Houston

External person

David J. Eckstein

  • National Institutes of Health, Bethesda
  • National Institutes of Health

External person

David B. Goldstein

  • National Institutes of Health, Bethesda
  • Institute for Genomic Medicine
  • Columbia University
  • Institute for Genomic Medicine
  • National Institutes of Health
  • COLUMBIA

External person

Manish J. Butte

  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • Stanford University
  • University of California at Los Angeles

External person

Susan L. Samson

  • Baylor College of Medicine
  • National Institutes of Health
  • Mayo Clinic Jacksonville, FL
  • BCM

External person

Allyn McConkie-Rosell

  • National Institutes of Health, Bethesda
  • Department of Pediatrics
  • Duke University
  • Department of Pediatrics Duke Health
  • Division of Medical Genetics
  • National Institutes of Health
  • Department of Pediatrics
  • Duke Nashville

External person

Erika M. Zink

  • Pacific Northwest National Laboratory
  • Biological Sciences Division
  • Earth and Biological Sciences Directorate
  • Undiagnosed Diseases Network
  • Undiagnosed Diseases Network
  • Pacific Northwest National Laboratory

External person

E. Chu

  • National Institutes of Health
  • Medicine Branches
  • Clinical Pharmacology Branch, Division of Cancer Treatment
  • National Naval Medical Center
  • University of Pittsburgh
  • West Haven VA Medical Center
  • Yale University

External person

Yaping Yang

  • Department of Molecular and Human Genetics
  • Baylor College of Medicine
  • National Institutes of Health, Bethesda
  • Molecular and Human Genetics
  • Dept of Molecular and Human Genetics
  • Whole Genome Laboratory
  • Medical Genetics Laboratories
  • Baylor Genetics, LLC
  • National Institutes of Health
  • Model Organism Screening Center

External person

Alberto Burlina

  • University Hospital
  • University Hospital of Padova
  • University Children's Hospital
  • Division of Metabolic Diseases
  • Metabolic Unit
  • Azienda Ospedaliera di Padova
  • Metabolic Unit
  • U.O.C. Malattie Metaboliche Ereditarie
  • Department of Neuroscience
  • University of Padua

External person

Elly Brokamp

  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • Vanderbilt University

External person

Daryl Waggott

  • Ontario Institute for Cancer Research
  • National Institutes of Health, Bethesda
  • Stanford University
  • Center for Undiagnosed Diseases
  • Informatics and Biocomputing Program
  • National Institutes of Health

External person

Nicholas Stong

  • Institute for Genomic Medicine
  • Columbia University
  • Institute for Genomic Medicine
  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • COLUMBIA

External person

David Draper

  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • Undiagnosed Diseases Program (UDP)
  • Undiagnosed Diseases Program

External person

Katrina M. Dipple

  • National Institutes of Health, Bethesda
  • University of California at Los Angeles
  • Children's Hospital and Regional Medical Center Seattle
  • Division of Genetic Medicine
  • University of Washington
  • National Institutes of Health
  • Division of Pulmonary and Sleep Medicine
  • Seattle Children's Hospital

External person

Paolo Moretti

  • Baylor College of Medicine
  • National Institutes of Health, Bethesda
  • Model Organism Screening Center
  • Dept of Molecular and Human Genetics
  • Department of Neurology
  • National Institutes of Health
  • BCM
  • University of Utah
  • VA Medical Center

External person

Donna M. Muzny

  • Baylor College of Medicine
  • BC Cancer Agency
  • University of British Columbia
  • National Institutes of Health, Bethesda
  • Human Genome Sequencing Center, BCM
  • Model Organism Screening Center
  • Human Genome Sequencing Center
  • Department of Molecular and Human Genetics
  • Canada's Michael Smith Genome Sciences Centre
  • Human Genome Sequencing Center, BCM
  • Institute for Molecular Genetics
  • Diagnostic Sequencing Laboratory
  • Whole Genome Laboratory
  • Human Genome Sequencing Center, BCM
  • Human Genome Sequencing Center, BCM
  • Human Genome Sequencing Center, BCM
  • Department of Molecular and Human Genetics
  • BCM
  • Institute for Molecular Genetics
  • Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics
  • National Institutes of Health
  • Membership of the SPARK Consortium Members is Provided in the Acknowledgements
  • University of Texas MD Anderson Cancer Center
  • British Columbia Cancer Agency
  • Pompeu Fabra University
  • Barcelona Institute for Science and Technology
  • University of Tübingen

External person

Howard J. Jacob

  • Medical College of Wisconsin
  • Massachusetts Gen. Hospital - East
  • Harvard University
  • HudsonAlpha
  • Department of Physiology
  • Cardiovascular Research Center
  • HudsonAlpha Institute of Biotechnology
  • Department of Physiology
  • HudsonAlpha Institute for Biotechnology
  • National Institutes of Health
  • AbbVie
  • Massachusetts General Hospital

External person

Laurel A. Donnell-Fink

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

External person

Kelly Schoch

  • National Institutes of Health, Bethesda
  • Division of Medical Genetics
  • Department of Pediatrics
  • Duke University
  • Department of Pediatrics Duke Health
  • National Institutes of Health
  • Department of Pediatrics
  • Duke Nashville

External person

Rebecca C. Spillmann

  • National Institutes of Health, Bethesda
  • Department of Pediatrics
  • Duke University
  • Department of Pediatrics Duke Health
  • Division of Medical Genetics
  • National Institutes of Health
  • Department of Pediatrics
  • Duke Nashville

External person

Dan C. Dorset

  • National Institutes of Health, Bethesda
  • HudsonAlpha
  • National Institutes of Health
  • HudsonAlpha Institute for Biotechnology

External person

Jean M. Davidson

  • Stanford University
  • Center for Undiagnosed Diseases
  • National Institutes of Health, Bethesda
  • National Institutes of Health

External person

Carmen J. Allegra

  • National Institutes of Health
  • University of Florida
  • Clinical Pharmacology Branch, Division of Cancer Treatment
  • Medicine Branches
  • National Naval Medical Center

External person

Esteban C. Dell'Angelica

  • University of California at Los Angeles
  • National Institutes of Health

External person

Alexa T. McCray

  • Department of Biomedical Informatics
  • Harvard University
  • UDN Coordinating Center
  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • Harvard

External person

Megan E. Grove

  • Stanford University

External person

Jeremy Wegner

  • University of Oregon
  • Institute of Neuroscience
  • Undiagnosed Diseases Network
  • Undiagnosed Diseases Network

External person

Guilhian Leipnitz

  • Universidade Federal do Rio Grande do Sul
  • Universidade Federal de Rio Grande Do sul
  • Departamento de Bioquímica

External person

Ellen F. Macnamara

  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • Undiagnosed Diseases Program (UDP)

External person

Lance H. Rodan

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

External person

Matthew T. Wheeler

  • Stanford University
  • Department of Medicine
  • Center for Undiagnosed Diseases
  • National Institutes of Health, Bethesda
  • Center for Undiagnosed Diseases
  • Cardiovascular Institute
  • National Institutes of Health

External person

Anastasia L. Wise

  • National Institutes of Health
  • National Institutes of Health, Bethesda

External person

Cecilia Esteves

  • National Institutes of Health, Bethesda
  • Harvard University
  • UDN Coordinating Center
  • Department of Biomedical Informatics
  • National Institutes of Health
  • Harvard

External person

David A. Sweetser

  • Harvard University
  • Massachusetts General Hospital and Harvard Medical School
  • National Institutes of Health
  • UDN Coordinating Center
  • Harvard
  • Washington University St. Louis
  • Massachusetts General Hospital
  • Massachusetts General Hospital Cancer Center

External person

Estela Natacha Brandt Busanello

  • Universidade Federal do Rio Grande do Sul
  • Universidade Federal do Rio Grande do sul
  • Departamento de Bioquímica

External person

Matthew R. Herzog

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

External person

Amy K. Robertson

  • Vanderbilt University
  • National Institutes of Health, Bethesda
  • National Institutes of Health

External person

Christopher J. Adams

  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • Undiagnosed Diseases Program (UDP)

External person

James V. Leonard

  • Clinical and Molecular Genetics Unit
  • University College London

External person

Thomas C. Markello

  • National Institutes of Health
  • National Institutes of Health, Bethesda
  • Undiagnosed Diseases Program (UDP)
  • Office of the Clinical Director
  • Undiagnosed Diseases Program
  • Undiagnosed Diseases Program
  • Office of the Director
  • Medical Genetics Branch

External person

Jennifer B. Phillips

  • University of Oregon
  • Institute of Neuroscience
  • Undiagnosed Diseases Network
  • Undiagnosed Diseases Network

External person

Sydelle Zinn

  • National Institutes of Health
  • Clinical Pharmacology Branch, Division of Cancer Treatment
  • Medicine Branches
  • National Naval Medical Center

External person

Young Mo Kim

  • Pacific Northwest National Laboratory
  • Biological Sciences Division
  • Biological Separation and Mass Spectrometry Group
  • Fundamental and Computational Sciences Directorate
  • Earth and Biological Sciences Directorate
  • Pacific Northwest National Laboratory

External person

Barbara N. Pusey

  • National Institutes of Health
  • Undiagnosed Diseases Program (UDP)

External person

Matthew Hirschfeld

  • Southcentral Foundation
  • Alaska Native Medical Center
  • Southcentral Foundation
  • Alaska Native Medical Center

External person

Edith Müller

  • University Hospital Heidelberg
  • University Children's Hospital
  • Department of General Pediatrics
  • Heidelberg University 

External person

Angela L. Jones

  • HudsonAlpha
  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • HudsonAlpha Institute for Biotechnology

External person

Patricia A. Ward

  • Baylor College of Medicine
  • National Institutes of Health, Bethesda
  • Model Organism Screening Center
  • Diagnostic Sequencing Laboratory
  • Kleberg DNA Diagnostic Laboratory
  • Department of Molecular and Human Genetics
  • Institute for Molecular Genetics
  • National Institutes of Health
  • BCM

External person

Mary Koziura

  • Vanderbilt University
  • National Institutes of Health

External person

Sharyn A. Lincoln

  • Harvard University
  • UDN Coordinating Center
  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • Harvard
  • Boston Children's Hospital

External person

Paul G. Fisher

  • Stanford University
  • Center for Undiagnosed Diseases
  • Lucille Packard Children's Hospital
  • Department of Neurology
  • Department of Neurology and Neurological Sciences
  • Department of Neurology
  • Department of Neurology
  • National Institutes of Health
  • Lucille Packard Children's Hospital

External person

J. J. Mulvihill

  • Children's Nat. Medical Center
  • University of Oklahoma
  • National Institutes of Health
  • Children's National Medical Center
  • National Institutes of Health, Bethesda
  • Department of Pediatrics
  • University of Pittsburgh

External person

Christina G S Palmer

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

External person

Stanley F. Nelson

  • University of Oxford
  • School of Medicine
  • Los Angeles School of Medicine
  • University of California at Los Angeles
  • University of Washington
  • University of California at Los Angeles School of Medicine
  • Oregon Hlth. Oregon Hlth. Sci. Univ.
  • University of Oxford
  • Oregon Health and Science University
  • Center for Neurobehavioral Genetics
  • Department of Human Genetics
  • School of Medicine
  • Department of Human Genetics
  • Department of Human Genetics
  • Department of Psychiatry and Behavioral Sciences
  • Department of Human Genetics
  • Department of Neurology
  • Department of Human Genetics
  • Department of Psychiatry and Behavioral Sciences
  • Department of Neurology
  • National Institutes of Health

External person

Lynne A. Wolfe

  • National Institutes of Health
  • National Institutes of Health, Bethesda
  • Office of the Clinical Director
  • Undiagnosed Diseases Program
  • Undiagnosed Diseases Program

External person

Alyssa A. Tran

  • Model Organism Screening Center
  • Baylor College of Medicine
  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • BCM

External person

Ronit Marom

  • National Institutes of Health
  • Baylor College of Medicine
  • BCM

External person

Esther M. Maier

  • Ludwig Maximilians-Universität München
  • Ludwig-Maximilians University
  • Ludwig Maximilian University of Munich
  • Research Center
  • Department of Biochemical Genetics and Molecular Biology
  • Dr. von Hauner Children’s Hospital

External person

Stephanie Birch

  • Alaska Division of Public Health
  • Alaska Division of Public Health

External person

Ingrid A. Holm

  • Harvard University
  • UDN Coordinating Center
  • Division of Genetics and Genomics
  • National Institutes of Health, Bethesda
  • Program in Genomics
  • Manton Center for Orphan Disease Research
  • Department of Pediatrics
  • Division of Genetics and Genomics and the Manton Center for Orphan Disease Research
  • National Institutes of Health
  • Harvard
  • Broad Institute
  • Boston Children's Hospital

External person

Terra R. Coakley

  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • Stanford University

External person

Britta Keyser

  • University of Hamburg
  • Children's Hospital
  • University Medical Center Hamburg-Eppendorf
  • Department of Pediatrics

External person

E. Christensen

  • University of Copenhagen
  • Department of Clinical Genetics
  • Department of Clinical Genetics
  • Department of Clinical Genetics

External person

Jean M. Johnston

  • National Institutes of Health
  • Undiagnosed Diseases Program (UDP)
  • National Institutes of Health, Bethesda

External person

Tiphanie P. Vogel

  • Model Organism Screening Center
  • Baylor College of Medicine
  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • BCM

External person

Bobbie Jo M. Webb-Robertson

  • Pacific Northwest National Laboratory
  • Computing & Analytics Division
  • National Institutes of Health, Bethesda
  • Oregon Health and Science University
  • National Institutes of Health
  • Pacific Northwest National Laboratory

External person

Yong Huang

  • Stanford University
  • Center for Undiagnosed Diseases
  • National Institutes of Health

External person

Aaron W. Aday

  • Vanderbilt University
  • Harvard University
  • National Institutes of Health
  • Brigham and Women’s Hospital

External person

Joseph Loscalzo

  • Harvard University
  • UDN Coordinating Center
  • Brigham and Women's Hospital
  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • Harvard
  • Brigham and Women’s Hospital
  • Massachusetts General Hospital

External person

Lori H. Handley

  • National Institutes of Health, Bethesda
  • HudsonAlpha
  • National Institutes of Health

External person

Kent J. Bloodsworth

  • Pacific Northwest National Laboratory
  • Earth and Biological Sciences Directorate
  • Undiagnosed Diseases Network
  • Undiagnosed Diseases Network
  • Pacific Northwest National Laboratory

External person

Diane B. Zastrow

  • Stanford University
  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • Center for Undiagnosed Diseases

External person

Katherine R. Chao

  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • Undiagnosed Diseases Program (UDP)
  • National Institutes of Health Undiagnosed Diseases Program
  • Broad Institute

External person

Yong Hui Jiang

  • Duke University
  • Department of Pediatrics
  • Division of Medical Genetics
  • National Institutes of Health
  • Department of Pediatrics
  • Yale University
  • University of Pittsburgh
  • Duke Nashville

External person

Yan Huang

  • National Institutes of Health
  • Undiagnosed Diseases Network
  • Undiagnosed Diseases Network

External person

Jennifer A. Sullivan

  • National Institutes of Health, Bethesda
  • Department of Pediatrics
  • Duke University
  • National Institutes of Health
  • Department of Pediatrics
  • University of Oklahoma
  • Duke Nashville

External person

Joel B. Krier

  • Harvard University
  • National Institutes of Health, Bethesda
  • MedSeq Project
  • UDN Coordinating Center
  • Department of Medicine
  • Division of Genetics
  • Department of Medicine
  • National Institutes of Health
  • Harvard
  • Brigham and Women’s Hospital

External person

Mateus Struecker da Rosa

  • Universidade Federal do Rio Grande do Sul
  • Universidade Federal de Rio Grande Do sul
  • Departamento de Bioquímica

External person

M. Dixon

  • Dietetic Department
  • University College London
  • NHS Foundation Trust
  • Dietetic Department
  • Dietetics
  • National Health Service
  • UCL Institute of Child Health and Great Ormond Street Hospital for Children NHS Foundation Trust

External person

Elizabeth A. Worthey

  • Department of Pediatrics
  • Medical College of Wisconsin
  • National Institutes of Health
  • HudsonAlpha Institute for Biotechnology
  • HudsonAlpha

External person

Jeanette C. Papp

  • National Institutes of Health
  • University of California at Los Angeles

External person

James C. Drake

  • National Institutes of Health
  • Clinical Pharmacology Branch, Division of Cancer Treatment
  • Medicine Branches

External person

Lefkothea Karaviti

  • National Institutes of Health, Bethesda
  • Division of Diabetes and Endocrinology
  • Baylor College of Medicine
  • National Institutes of Health
  • Texas Children's Hospital Houston
  • BCM

External person

K. Ozato

  • National Institutes of Health

External person

Jean Philippe Gourdine

  • Oregon Health and Science University
  • Undiagnosed Disease Network
  • Department of Medical Informatics and Clinical Epidemiology
  • Oregon Clinical and Translational Research Institutes
  • National Institutes of Health, Bethesda
  • Monarch Initiative (monarchinitiative.org)
  • National Institutes of Health
  • Monarch Initiative

External person

Catherine Groden

  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • Undiagnosed Diseases Program (UDP)
  • Undiagnosed Diseases Program

External person

Chloe M. Reuter

  • Stanford University
  • National Institutes of Health

External person

James P. Orengo

  • Baylor College of Medicine
  • National Institutes of Health
  • BCM

External person

B. Wilcken

  • University of Sydney
  • New Children's Hospital
  • Biochemical Genetics and Newborn Screening Service
  • Biochemical Genetics Laboratory
  • The Children's Hospital at Westmead

External person

Julie S. Cohen

  • Kennedy Krieger Institute
  • Johns Hopkins University

External person

Zachary Zappala

  • Department of Genetics
  • Stanford University
  • Department of Genetics

External person

Martha Ann Keels

  • Departments of Pediatrics and Surgery
  • Duke University
  • National Institutes of Health

External person

Laura A. Mamounas

  • National Institutes of Health

External person

Jonathan A. Bernstein

  • University of Cincinnati
  • Division of Infectious Diseases
  • Stanford University
  • Department of Internal Medicine
  • Division of Immunology/Allergy
  • Division of Infectious Diseases
  • National Institutes of Health

External person

Calum Macrae

  • Harvard University
  • UDN Coordinating Center
  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • MedSeq Project
  • Harvard
  • Brigham and Women’s Hospital

External person

Jessica Lamp

  • University Medical Center Hamburg-Eppendorf
  • Department of Biochemistry
  • University of Hamburg
  • Children's Hospital
  • University Medical Center Hamburg-Eppendorf

External person

Timothy W. Yu

  • Harvard University
  • Program in Genomics
  • Division of Genetics
  • Division of Genetics and Genomics and the Manton Center for Orphan Disease Research
  • Broad Institute
  • Division of Genetics and Genomics
  • Membership of the SPARK Consortium Members is Provided in the Acknowledgements
  • Boston Children's Hospital
  • Massachusetts General Hospital

External person

Wilhelm Herdering

  • University of Hamburg
  • University of Hamburg
  • Institute of Inorganic and Applied Chemistry
  • Institute of Organic Chemistry

External person

M. W. Hentze

  • National Institutes of Health
  • European Molecular Biology Laboratory
  • Cell Biology and Metabolism Branch

External person

Katrina M. Waters

  • Pacific Northwest National Laboratory
  • Oregon Health Sciences University
  • Oregon Health and Science University
  • Biological Sciences Division
  • Computational Biology and Bioinformatics
  • National Institutes of Health
  • Oregon State University
  • Pacific Northwest National Laboratory

External person

Jane S. Bellet

  • Duke University
  • National Institutes of Health
  • Department of Dermatology

External person

Jennifer L. Murphy

  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • Undiagnosed Diseases Program (UDP)

External person

Anita Rauch

  • Institute of Human Genetics
  • University of Zurich

External person

Judy L. Peirce

  • Undiagnosed Diseases Network
  • University of Oregon
  • Undiagnosed Diseases Network

External person

Hane Lee

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

External person

Lynette Rives

  • National Institutes of Health
  • Vanderbilt University

External person

Richard L. Maas

  • Harvard University
  • UDN Coordinating Center
  • Division of Sleep Medicine
  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • Harvard
  • Broad Institute
  • Medical University of Vienna
  • Brigham and Women’s Hospital
  • Massachusetts General Hospital Cancer Center

External person

Lee Jun C Wong

  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • Department of Human and Molecular Genetics
  • Department of Molecular and Human Genetics
  • Biochemical Genetics Laboratory
  • Institute for Molecular Genetics

External person

Johannes Zschocke

  • University of Heidelberg
  • Heidelberg University 
  • Innsbruck Medical University
  • Institute of Human Genetics
  • Division of Human Genetics

External person

Jill A. Horowitz

  • National Institutes of Health
  • United States Food and Drug Administration
  • National Institutes of Health
  • Cell Biology and Metabolism Branch
  • Division of Hematologic Products
  • RiboGene, Inc.

External person

Mårten Kyllerman

  • Sahlgrenska University Hospital
  • University of Gothenburg

External person

Maja Chloupková

  • Oregon Hlth. and Sciences University
  • Oregon Health and Science University
  • Department of Molecular and Medical Genetics
  • Department of Cell and Developmental Biology
  • Depts. of Pediat./Molec./Med. Genet.
  • Departments of Medicine and Cell and Developmental Biology
  • Department of Molecular and Medical Genetics

External person

Yong hui Jiang

  • Department of Pediatrics Duke Health
  • Division of Medical Genetics
  • Duke University
  • Division of Medical Genetics
  • Department of Pediatrics
  • Yale University
  • National Institutes of Health
  • Duke Nashville

External person

Kimberly A. Strong

  • Ethics and Genomics Program
  • HudsonAlpha Institute of Biotechnology
  • HudsonAlpha
  • HudsonAlpha Institute for Biotechnology
  • National Institutes of Health

External person

Fariha Jamal

  • Baylor College of Medicine
  • National Institutes of Health
  • BCM

External person

K. A. Strauss

  • Clinic for Special Children
  • Metabolic Service
  • Clinic for Special Children

External person

Oguz Kanca

  • Department of Molecular and Human Genetics
  • Baylor College of Medicine
  • Texas Children's Hospital Houston

External person

Chris A. Walsh

  • Department of Neurology
  • Program in Genomics
  • Harvard University
  • Department of Pediatrics
  • Howard Hughes Medical Institute and Division of Genetics
  • Stockholm County Council
  • Program in Genetics and Genomics
  • Howard Hughes Medical Institute
  • Department of Neurology
  • Child and Adolescent Psychiatry
  • Department of Neurology
  • Broad Institute
  • National Institutes of Health
  • UDN Coordinating Center
  • Department of Neurology
  • Program in Genetics and Genomics
  • Department of Neurology and Pediatrics
  • Harvard
  • Boston Children's Hospital

External person

Donna M. Krasnewich

  • National Institutes of Health, Bethesda
  • National Institutes of Health

External person

J. Carl Pallais

  • National Institutes of Health
  • Harvard University
  • UDN Coordinating Center
  • Harvard
  • Brigham and Women’s Hospital
  • Massachusetts General Hospital

External person

Cristiane Cecatto

  • Universidade Federal do Rio Grande do Sul
  • Departamento de Bioquímica

External person

Mays El-Dairi

  • Duke University
  • Department of Ophthalmology
  • National Institutes of Health
  • Department of Ophthalmology and Medicine

External person

Valerie V. Maduro

  • National Institutes of Health
  • Undiagnosed Diseases Program (UDP)
  • National Institutes of Health, Bethesda

External person

L. Gilbert Vezina

  • Children's National Medical Center
  • George Washington University

External person

Kimberly Splinter

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

External person

J. Stoler

  • National Institutes of Health, Bethesda
  • Harvard University
  • UDN Coordinating Center
  • Division of Genetics and Genomics
  • National Institutes of Health
  • Harvard
  • Boston Children's Hospital

External person

Joanna Crawford

  • University of Queensland

External person

Anne M. Slavotinek

  • University of California at San Francisco
  • Department of Pediatrics
  • Division of Neonatology

External person

César Augusto João Ribeiro

  • Universidade Federal do Rio Grande do Sul
  • Departamento de Bioquímica

External person

Philip Washbourne

  • University of Oregon
  • Institute of Neuroscience
  • Monte Westerfield
  • Monte Westerfield

External person

Marina A. Schwab

  • University Children's Hospital of Heidelberg
  • University Children's Hospital
  • Department of General Pediatrics
  • Heidelberg University 

External person

Zoltan Lukacs

  • University Medical Center Hamburg-Eppendorf
  • University of Hamburg
  • Children's Hospital
  • University Medical Center Hamburg-Eppendorf
  • Department of Clinical Chemistry
  • Department of Pediatrics

External person

Michele Nehrebecky

  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • Undiagnosed Diseases Program (UDP)
  • Undiagnosed Diseases Program

External person

Alica Goldman

  • Baylor College of Medicine
  • Peter Kellaway Section of Neurophysiology in Neurology
  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • Augusta University (A.M.M.
  • BCM
  • University of Wisconsin-Madison

External person

Daryl A. Scott

  • Baylor College of Medicine
  • National Institutes of Health, Bethesda
  • Model Organism Screening Center
  • Dept of Molecular and Human Genetics
  • Department of Molecular Physiology and Biophysics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Pediatrics
  • National Institutes of Health
  • Texas Children's Hospital Houston

External person

Zaheer M. Valivullah

  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • Undiagnosed Diseases Program (UDP)

External person

Angels García Cazorla

  • University of Barcelona
  • Department of Neurology
  • Neurology and Metabolism Department
  • Hospital Sant Joan de Deu
  • CIBER - Center for Biomedical Research Network
  • Instituto de Salud Carlos III

External person

Liliana Fernandez

  • Stanford University
  • Center for Undiagnosed Diseases
  • National Institutes of Health, Bethesda
  • National Institutes of Health

External person

May Christine V Malicdan

  • National Institutes of Health
  • Medical Genetics Branch and UDP Translational Medicine
  • Office of the Clinical Director
  • University of Michigan, Ann Arbor

External person

Kimberly A. Aldinger

  • Children's Hospital and Regional Medical Center Seattle
  • Seattle Children's Research Institute

External person

Lorenzo D. Botto

  • University of Utah
  • Centers for Disease Control and Prevention
  • Department of Pediatrics
  • Division of Medical Genetics
  • Department of Pediatrics

External person

S. R. Braddock

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

External person

Marcie McFadden

  • Undiagnosed Diseases Network
  • University of Oregon
  • Undiagnosed Diseases Network

External person

M. Duran

  • Academic Medical Center Amsterdam

External person

Kevin S. Smith

  • Stanford University
  • Department of Pathology
  • Department of Pathology
  • Department of Genetics
  • National Institutes of Health, Bethesda
  • HudsonAlpha Institute for Biotechnology

External person

Nichole D. Schueck

  • Univ. of Colorado Hlth. Sci. Center
  • University of Colorado Denver
  • Department of Pediatrics
  • University of Colorado Anschutz Medical Campus

External person

Sarah J. Stednitz

  • Undiagnosed Diseases Network
  • University of Oregon
  • Undiagnosed Diseases Network

External person

Janet S. Sinsheimer

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

External person

Jana Heringer

  • University Hospital Heidelberg
  • Department of General Pediatrics
  • Heidelberg University 
  • Department of General Paediatrics

External person

Judy Williams

  • Queensland Health

External person

Elizabeth L. Krieg

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

External person

Guoyun Yu

  • National Institutes of Health
  • Undiagnosed Diseases Program (UDP)
  • National Institutes of Health, Bethesda

External person

Laure Frésard

  • Stanford University
  • Department of Genetics
  • New York Genome Center
  • Columbia University

External person

Joachim Thiem

  • University of Hamburg
  • University of Hamburg
  • Institute of Organic Chemistry

External person

Robert A. White

  • University of Missouri at Kansas City
  • Children's Mercy Hospitals and Clinics
  • University of Missouri

External person

Philippe Campeau

  • George Washington University
  • Baylor College of Medicine
  • Department of Pediatrics
  • Department of Molecular and Human Genetics
  • University of Montreal
  • Department of Pediatrics
  • Department of Pediatrics
  • Université de Montréal

External person

Carolina Coffi Pereira

  • Universidade Federal do Rio Grande do Sul
  • Universidade Federal de Rio Grande Do sul
  • Departamento de Bioquímica

External person

Silvana Opp

  • University Children's Hospital
  • University Children's Hospital Heidelberg
  • Department of General Paediatrics
  • Department of General Pediatrics
  • Heidelberg University 

External person

Colleen Wahl

  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • Undiagnosed Diseases Program (UDP)
  • Undiagnosed Diseases Program

External person

Mary E. Hackbarth

  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • Undiagnosed Diseases Program (UDP)
  • Office of the Director
  • Undiagnosed Diseases Program

External person

Donna Novacic

  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • Undiagnosed Diseases Program (UDP)

External person

Lisa L. Dowler

  • Children's Mercy Hospitals and Clinics
  • Section of Genetics
  • University of Missouri at Kansas City

External person

Cynthia S. Gubbels

  • Harvard University
  • Broad Institute
  • Boston Children's Hospital

External person

Eric Vilain

  • University of California at Los Angeles
  • National Institutes of Health, Bethesda
  • Department of Human Genetics
  • Gonda Center
  • Department of Human Genetics
  • Department of Human Genetics
  • Department of Biomathematics and Human Genetics
  • Division of Pediatric Pulmonology
  • Department of Human Genetics
  • National Institutes of Health
  • Departments of Human Genetics
  • Pathology and Laboratory Medicine
  • Children's National Medical Center
  • CNRS Centre National de la Recherche Scientifique
  • George Washington University
  • Children’s National Hospital
  • Center for Nutrition, Genetics & Health
  • University of California at Irvine

External person

Pascal Joset

  • University of Zurich

External person

Molly C. Schroeder

  • National Institutes of Health, Bethesda
  • HudsonAlpha
  • National Institutes of Health

External person

Markus Glatzel

  • University Medical Center Hamburg-Eppendorf
  • University of Hamburg
  • University Medical Center Hamburg-Eppendorf
  • Department of Neuropathology
  • Institute of Neuropathology

External person

Prashant Sharma

  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • Undiagnosed Diseases Program (UDP)

External person

Rena Godfrey

  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • Undiagnosed Diseases Program (UDP)
  • Undiagnosed Diseases Program

External person

Bernardo Blanco-Sanchez

  • University of Oregon
  • Undiagnosed Diseases Network
  • IHU Imagine, Université Paris Descartes, Hôpital Necker Enfants Malades
  • Undiagnosed Diseases Network

External person

Shawn E. Levy

  • National Institutes of Health
  • HudsonAlpha
  • HudsonAlpha Institute for Biotechnology

External person

Ângela Zanatta

  • Universidade Federal do Rio Grande do Sul
  • Departamento de Bioquímica

External person

Paul Mazur

  • National Institutes of Health, Bethesda
  • Harvard University
  • UDN Coordinating Center
  • Department of Biomedical Informatics
  • National Institutes of Health

External person

David R. Murdock

  • Baylor College of Medicine
  • Human Genome Sequencing Center
  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • BCM

External person

Chirag Patel

  • Royal Brisbane and Women's Hospital
  • Department of Endocrinology

External person

Neil H. Parker

  • University of California at Los Angeles

External person

D. A. Scott

  • Baylor College of Medicine
  • BCM

External person

Stephen V. Angeloni

  • Children's Mercy Hospitals and Clinics
  • Section of Genetics
  • University of Missouri at Kansas City

External person

Peter G. Kranz

  • Department of Radiology
  • Duke University
  • National Institutes of Health
  • Department of Radiology

External person

Brett H. Graham

  • National Institutes of Health, Bethesda
  • Baylor College of Medicine
  • Model Organism Screening Center
  • Department of Molecular and Human Genetics
  • National Institutes of Health
  • Texas Children's Hospital Houston

External person

Aurélie Clément

  • Undiagnosed Diseases Network
  • University of Oregon
  • Undiagnosed Diseases Network

External person

Ariane G. Soldatos

  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • Undiagnosed Diseases Program (UDP)
  • Undiagnosed Diseases Program
  • Department of Health and Human Services

External person

Teri A. Manolio

  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • Division of Genomic Medicine
  • Blood Institute
  • Georgetown University
  • DECA-Cardiovascular Health Study
  • Division of Cardiology
  • National Heart
  • University of Washington
  • Epidemiology and Biometry Program

External person

Tyra Estwick

  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • Undiagnosed Diseases Program (UDP)
  • Laboratory of Host Defenses

External person

Luisa Macedo Braga

  • Fundação Estadual de Produção e Pesquisa em Saúde

External person

Chunli Zhao

  • Stanford University
  • Center for Undiagnosed Diseases
  • National Institutes of Health, Bethesda
  • National Institutes of Health

External person

Dianna G. Fisk

  • Stanford University

External person

Jonathan C. Andrews

  • Baylor College of Medicine

External person

Linda M. LeBard

  • Oregon Health and Science University

External person

Maanasa Indaram

  • University of California at San Francisco

External person

Shruti Marwaha

  • Stanford University
  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • Center for Undiagnosed Diseases
  • Center for Undiagnosed Diseases
  • Cardiovascular Institute

External person

Florian Eichler

  • Harvard University
  • Department of Neurology
  • Department of Neurology
  • Department of Neurology
  • Massachusetts General Hospital

External person

L. Duncan

  • National Institutes of Health
  • Vanderbilt University

External person

Edwin K. Silverman

  • Division of Pulmonary and Critical Care Medicine
  • Harvard University
  • National Institutes of Health, Bethesda
  • Division of Pulmonary and Critical Care Medicine
  • University of Colorado Denver
  • Maastricht University
  • National Institutes of Health
  • UDN Coordinating Center
  • Harvard
  • Brigham and Women’s Hospital
  • National Jewish Health

External person

Pei Tseng Lee

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

External person

Ellen M. Howerton

  • National Institutes of Health, Bethesda
  • National Institutes of Health

External person

Cas Simons

  • Murdoch Children's Research Institute
  • University of Queensland
  • Royal Children's Hospital

External person

Heidi Cope

  • Duke University
  • National Institutes of Health
  • Duke Nashville

External person

Lisa Bastarache

  • Vanderbilt University

External person

Raphael Schiffmann

  • Institute of Metabolic Disease, Baylor Research Institute
  • Baylor Health Care System
  • National Institutes of Health
  • Developmental and Metabolic Neurology Branch
  • Baylor Scott & White Health

External person

F. Hörster

  • University Children's Hospital
  • University Children's Hospital Heidelberg
  • Department of General Pediatrics
  • Heidelberg University 

External person

C. Christopher Lau

  • National Institutes of Health

External person

Anna C. Need

  • Imperial College London
  • National Institutes of Health
  • Queen Mary University of London

External person

Alexandra J. McCarty

  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • Undiagnosed Diseases Program (UDP)
  • Undiagnosed Diseases Program

External person

Franziska Stellmer

  • University Medical Center Hamburg-Eppendorf
  • University of Hamburg
  • Children's Hospital
  • University Medical Center Hamburg-Eppendorf
  • Department of Pediatrics

External person

Ali Fatemi

  • Kennedy Krieger Institute
  • Membership of the SPARK Consortium Members is Provided in the Acknowledgements
  • Johns Hopkins University

External person

Monique A. Johnson

  • Oregon Health/Science University
  • Clinical Genetics Laboratories
  • Oregon Health and Science University
  • Oregon Health and Science University
  • Department of Molecular and Medical Genetics
  • Department of Molecular Genetics
  • Department of Molecular and Medical Genetics
  • Department of Molecular and Medical Genetics

External person

Sylvia Stockler-Ipsiroglu

  • University of British Columbia

External person

Allen Lipson

  • University of California at Los Angeles

External person

Olaya Santiago-Fernández

  • University of Oviedo

External person

Sujay Kansagra

  • Department of Pediatrics
  • Duke University
  • Department of Pediatrics

External person

Precilla D’Souza

  • National Institutes of Health

External person

Ulla Feldt-Rasmussen

  • University of Copenhagen

External person

G. Sunder-Plassmann

  • Medical University of Vienna
  • Division of Rheumatology

External person

D. Dillard

  • Research Department
  • Southcentral Foundation
  • Southcentral Foundation

External person

Slavé Petrovski

  • National Institutes of Health, Bethesda
  • Columbia University
  • University of Melbourne
  • Ramos Mej́a Hospital
  • Institute for Genomic Medicine
  • Department of Epidemiology and Neurology
  • Department of Medicine
  • Department of Medicine and Neurology
  • Royal Melbourne Hospital
  • Epilepsy Center
  • Institute for Genomic Medicine
  • AstraZeneca
  • Precision Medicine and Genomics
  • National Institutes of Health

External person

Wendy H. Raskind

  • Univ. of Washington Sch. of Medicine
  • Veterans Affairs Puget Sound Health Care System
  • University of Washington
  • VA Puget Sound Health Care System
  • Department of Medicine
  • Department of Psychiatry and Behavioral Sciences
  • Department of Medicine
  • Department of Medicine

External person

Robert K. Lark

  • Duke University Medical Center
  • Duke University
  • Department of Orthopedic Surgery
  • Department of Orthopaedic Surgery

External person

Florian Lagler

  • Ludwig-Maximilians University
  • Ludwig Maximilian University of Munich
  • Department of Biochemical Genetics and Molecular Biology

External person

Ettore Appella

  • Laboratory of Cell Biology
  • National Institutes of Health
  • Center for Cancer Research

External person

Mylinh Vu

  • National Institutes of Health

External person

Valeska Lizzi Lagranha

  • Universidade Federal do Rio Grande do Sul
  • Departamento de Bioquímica

External person

S. Wright Caughman

  • National Institutes of Health
  • Cell Biology and Metabolism Branch

External person

Jeffrey E. Green

  • National Institutes of Health
  • Diagnostic Radiology Department
  • National Heart
  • NIH
  • National Institutes of Health, Bethesda
  • National Heart

External person

J. Scott Newberry

  • National Institutes of Health, Bethesda
  • HudsonAlpha
  • National Institutes of Health
  • HudsonAlpha Institute for Biotechnology

External person

Kathy Nicholls

  • Royal Melbourne Hospital
  • University of Texas Southwestern Medical Center
  • Royal Melbourne Hospital

External person

S. P Nikolas Boy

  • University Hospital Heidelberg
  • Department of General Pediatrics
  • Heidelberg University 

External person

A. Bacino

  • National Institutes of Health, Bethesda
  • National Institutes of Health

External person

Suzanne DeBrosse

  • Case Western Reserve University

External person

Tiffany Guinn

  • Southcentral Foundation

External person

Brenda Iglesias

  • National Institutes of Health

External person

Stéphane Bézieau

  • Nantes Université
  • CHU Nantes
  • Centre Georges-François Leclerc
  • Service d'Oncogénétique
  • CHU de Nantes
  • L'institut du Thorax
  • Nantes University Hospital (CHU de Nantes)
  • Institut national de la santé et de la recherche médicale
  • University of South Florida
  • Service de Génétique Médicale

External person

Paolo M. Moretti

  • National Institutes of Health
  • Baylor College of Medicine

External person

Harsha Vardhan Doddapaneni

  • Human Genome Sequencing Center
  • Baylor College of Medicine
  • Canada's Michael Smith Genome Sciences Centre
  • University of British Columbia
  • Membership of the SPARK Consortium Members is Provided in the Acknowledgements
  • British Columbia Cancer Agency

External person

David Stevenson

  • University of Utah
  • Department of Pediatrics
  • Department of Pediatrics
  • Stanford University
  • Department of Pediatrics
  • Department of Pediatrics

External person

David Dimmock

  • Children's Hospital of Wisconsin Wauwatosa
  • Rady Children's Institute for Genomic Medicine
  • Department of Pediatrics
  • Medical College of Wisconsin
  • University of Colorado Denver
  • Divisions of Cardiology
  • University of Pittsburgh
  • University of Colorado Anschutz Medical Campus

External person

Roberta Binder

  • NIH
  • National Institutes of Health
  • Cell Biology and Metabolism Branch
  • RiboGene, Inc.

External person

Rachel Ramoni

  • Harvard University
  • National Institutes of Health, Bethesda
  • Partners HealthCare
  • UDN Coordinating Center
  • Department of Oral Health Policy and Epidemiology
  • Center for Biomedical Informatics
  • National Institutes of Health
  • University of Texas Health Science Center at Houston

External person

R. Santer

  • Universitätsklinikum Hamburg-Eppendorf
  • University of Hamburg
  • National Institutes of Health, Bethesda
  • University Medical Center Hamburg-Eppendorf
  • Department of Pediatrics
  • National Institutes of Health

External person

Melissa Caswill

  • University of Manitoba
  • Department of Biochemistry and Medical Genetics

External person

A. B. Roberts

  • National Institutes of Health
  • Biomarkers Prevention Res Branch
  • Laboratory of Chemoprevention

External person

Nicholas Stong

  • National Institutes of Health
  • Columbia University

External person

Marco L. Leung

  • University of Pennsylvania
  • University of Texas MD Anderson Cancer Center
  • The University of Chicago
  • The Children's Hospital of Philadelphia
  • Nationwide Children’s Hospital
  • Ohio State University

External person

M. A. Zasloff

  • National Institutes of Health, Bethesda
  • University of Pennsylvania
  • Diagnostic Radiology Department
  • National Heart
  • Department of Genetics
  • National Institutes of Health
  • NIH
  • National Heart
  • The Children's Hospital of Philadelphia

External person

Robin Roberson

  • University of Gothenburg
  • University of Gothenburg
  • Departments of Pediatrics
  • National Institutes of Health
  • Biometry Branch
  • Lab. of Cell. and Molec. Physiology
  • Laboratory of Development

External person

William R. Wilcox

  • Emory University

External person

Talal Alabduljalil

  • Oregon Health and Science University
  • Oregon Health and Science University
  • Casey Eye Institute
  • Albahar Eye Center
  • Ibn Sina Hospital
  • Casey Eye Institute

External person

Tracey Oh

  • University of British Columbia

External person

James R. Connor

  • Stanford University
  • Department of Neurosurgery
  • Pennsylvania State University
  • Pennsylvania State University Hershey

External person

Nicola Dikow

  • Heidelberg University 

External person

Dolores Bryla

  • University of Gothenburg
  • University of Gothenburg
  • Departments of Pediatrics
  • National Institutes of Health
  • Biometry Branch
  • Lab. of Cell. and Molec. Physiology
  • Laboratory of Development

External person

Joaquim Sa

  • University of Coimbra

External person

Paul R. Lee

  • National Institutes of Health
  • Undiagnosed Diseases Program (UDP)

External person

Monika Oláhová

  • Newcastle University

External person

Sara P. Thomas

  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • Undiagnosed Diseases Program (UDP)

External person

Travis K. Johnson

  • Monash University
  • School of Biological Sciences

External person

Avihu Boneh

  • Royal Children's Hospital Melbourne
  • Royal Children's Hospital
  • Victorian Clinical Genetics Services

External person

Letícia Meier

  • Universidade Federal do Rio Grande do Sul

External person

Ettore Salsano

  • IRCCS Foundation Rome
  • Department of Clinical Neurosciences
  • IRCCS Fondazione Istituto Neurologico Carlo Besta - Milano

External person

Jaedon P. Avey

  • Southcentral Foundation

External person

Laurie E. Bernstein

  • Univ. of Colorado Hlth. Sci. Center
  • Children's Hospital Denver
  • University of Colorado Denver
  • Department of Pediatrics
  • Met Ed Co
  • University of Colorado Anschutz Medical Campus
  • University of Colorado Department of Pediatrics
  • University of Colorado Health

External person

Anna Eva Blank

  • Goethe-University Frankfurt
  • Institute of Neurology (Edinger Institute)
  • Goethe University Frankfurt

External person

Elena Raluca Nicoli

  • Office of the Director
  • Undiagnosed Diseases Program
  • National Institutes of Health

External person

Edgar L. Hunt

  • University of Colorado Anschutz Medical Campus

External person

Barbara K. Burton

  • Ann and Robert H. Lurie Children's Hospital of Chicago
  • Northwestern University
  • Children's Memorial Hospital
  • National Institutes of Health, Bethesda
  • Department of Pediatrics
  • Department of Pediatrics
  • Cognitive Neurology and Alzheimer's Disease Center
  • Division of Genetics
  • Department of Medical Genetics
  • National Institutes of Health
  • University of Pittsburgh

External person

Sandra K. Loo

  • Department of Psychiatry and Biobehavioral Science
  • University of California at Los Angeles
  • Department of Psychiatry
  • National Institutes of Health

External person

David Chitayat

  • University of Toronto
  • Department of Medical Genetics
  • Mount Sinai Hospital of University of Toronto

External person

Carson R. Loomis

  • National Institutes of Health, Bethesda
  • National Institutes of Health

External person

Brett V. Johnson

  • University of Adelaide

External person

Ronald D. Sekura

  • University of Gothenburg
  • University of Gothenburg
  • Departments of Pediatrics
  • National Institutes of Health
  • Biometry Branch
  • Lab. of Cell. and Molec. Physiology
  • Laboratory of Development

External person

Richard A. Gibbs

  • Baylor College of Medicine
  • BC Cancer Agency
  • Massachusetts Institute of Technology
  • University of British Columbia
  • Broad Institute
  • Greater Baltimore Medical Center
  • Human Genome Sequencing Center, BCM
  • National Institutes of Health
  • Human Genome Sequencing Center
  • Baylor Miraca Genetics Laboratories
  • Department of Molecular and Human Genetics
  • Canada's Michael Smith Genome Sciences Centre
  • Cancer Genome Atlas Program Office
  • Department of Molecular and Human Genetics
  • Human Genome Sequencing Center, BCM
  • Texas Cancer Research Biobank (TCRB)
  • Institute for Molecular Genetics
  • Milton J. Dance Head and Neck Center
  • Diagnostic Sequencing Laboratory
  • Department of Molecular and Human Genetics
  • Human Genome Sequencing Center, BCM
  • Human Genome Sequencing Center, BCM
  • Human Genome Sequencing Center, BCM
  • Greater Baltimore Medical Center
  • Department of Molecular and Human Genetics
  • BCM
  • Institute for Molecular Genetics
  • Massachusetts Institute of Technology
  • Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics
  • British Columbia Cancer Agency
  • Baylor-Hopkins Center for Mendelian Genomics
  • Membership of the SPARK Consortium Members is Provided in the Acknowledgements
  • Mayo Clinic Rochester, MN
  • Ontario Institute for Cancer Research

External person

M. B. Sporn

  • National Institutes of Health
  • Dartmouth Medical School
  • Dartmouth College
  • Biomarkers Prevention Res Branch
  • Laboratory of Chemoprevention
  • Department of Pharmacology

External person

Iacopo Olivotto

  • Azienda Ospedaliera Careggi
  • Cardiomyopathy Unit
  • University of Florence
  • University of FlorenceItaly
  • Azienda Ospedaliero Universitaria Meyer

External person

Scott K. Reaves

  • Oregon Health and Science University

External person

Katherine E. Schaffer

  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • Undiagnosed Diseases Program (UDP)

External person

Joyce M. Teng

  • Stanford University
  • Memorial Sloan-Kettering Cancer Center
  • University of Wisconsin-Madison

External person

Ali Dursun

  • Hacettepe University
  • Hacettepe University
  • Department of Pediatrics

External person

Mayara Vendramin Pasquetti

  • Universidade Federal do Rio Grande do Sul

External person

Letícia Pettenuzzo

  • Universidade Federal do Rio Grande do sul
  • Universidade Federal do Rio Grande do Sul
  • Departamento de Bioquímica

External person

Ashley McFarquhar

  • University of Montreal

External person

Megan Cho

  • National Institutes of Health, Bethesda
  • GeneDx
  • GeneDX Inc
  • National Institutes of Health
  • OPKO Health, Inc.

External person

John Seavitt

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

External person

Suzy Alexander

  • Queensland Centre for Mental Health Research
  • University of Queensland

External person

Heidi Dorward

  • Human Biochemical Genetics Section
  • National Institutes of Health

External person

John Douglas Burke

  • Human Biochemical Genetics Section
  • National Institutes of Health

External person

Kelly L. Jones

  • University of Washington
  • Division of Child Neurology
  • University of Mississippi
  • Division of Pulmonary and Sleep Medicine
  • Eastern Virginia Medical School

External person

Ines Müller

  • University Children's Hospital Heidelberg
  • Department of General Pediatrics
  • Heidelberg University 

External person

Ying Wooi Wan

  • Jan and Dan Duncan Neurological Research Institute
  • Department of Obstetrics and Gynecology
  • BCM
  • Jan and Duncan Neurological Research Institute
  • Baylor College of Medicine
  • Department of Pediatrics
  • Texas Children's Hospital Houston

External person

Patrick C. Elwood

  • National Institutes of Health
  • Clinical Pharmacology Branch, Division of Cancer Treatment
  • Medicine Branches

External person

Gerhard Burckhardt

  • Georg-August-University
  • University of Göttingen
  • Center of Physiology and Pathophysiology

External person

Aysegul Tokatli

  • Hacettepe University
  • Hacettepe University
  • Department of Pediatrics

External person

Scott E. Hickey

  • National Institutes of Health, Bethesda
  • Nationwide Children’s Hospital
  • Division of Molecular and Human Genetics
  • National Institutes of Health
  • Ohio State University

External person

Nissan Vida Baratang

  • University of Montreal

External person

Katherine Johnston

  • The Permanent Medical Group
  • The Permanent Medical Group

External person

Gareth A. Harman

  • Oregon Health and Science University
  • Oregon Health and Science University
  • Casey Eye Institute
  • Casey Eye Institute

External person

Luis Barbeito

  • Instituto de Investigaciones Biológicas Clemente Estable
  • Instituto de Investigaciones Biologicas Clemente Estable
  • Instituto de Investigaciones Biológicas Clemente Estable
  • Institut Pasteur Paris
  • Institut Pasteur de Montevideo

External person

Gert Fricker

  • University of Heidelberg
  • Heidelberg University 
  • Abteilung Pharmazeutische Technologie und Pharmakologie Im Neuenheimer
  • Institute of Pharmacy and Molecular Biotechnology

External person

J. Forman

  • National Institutes of Health
  • University of Texas Southwestern Medical Center
  • Department of Microbiology

External person

John Newman

  • Vanderbilt University

External person

Sakkubai Naidu

  • Kennedy Krieger Institute
  • Johns Hopkins University
  • Department of Neurology
  • Department of Neurogenetics
  • Department of Pediatrics

External person

Collette C. Parker

  • Division of Child Neurology
  • University of Mississippi

External person

Kévin Contrepois

  • Department of Genetics
  • Stanford University

External person

Ani Dillon

  • University of California at Los Angeles

External person

Elena Infante

  • University of Pittsburgh

External person

Laurent Pasquier

  • CHU de Rennes

External person

Birgit Assmann

  • Heidelberg University 
  • Department of General Paediatrics

External person

Carlos López-Otý́n

  • University of Oviedo
  • Departamento de Bioquímica Y Biología Molecular
  • University of Coimbra
  • Departamento de Bioquý́mica y Biologý́a Molecular
  • Hong Kong University of Science and Technology
  • Centro de Investigación Biomédica en Red de Cáncer
  • Instituto de Salud Carlos III
  • Ulm University
  • Kiel University
  • Centro de Investigación Biomédica en Red
  • University of Michigan, Ann Arbor

External person

E. Neumaier-Probst

  • University of Heidelberg Medical School
  • Heidelberg University 
  • Department of Neuroradiology

External person

François Eyskens

  • Univeritair Ziekenhaus Anterpen
  • University of Antwerp
  • Univeritair Ziekenhaus Anterpen
  • Center of Inherited Metabolic Diseases

External person

Brunilda Balliu

  • Stanford University
  • University of California at Los Angeles
  • Broad Institute

External person

Dwight D. Koeberl

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

External person

Bastian Kortmann

  • Children's Hospital
  • University Medical Center Hamburg-Eppendorf
  • University of Hamburg

External person

John A. Phillips

  • Vanderbilt University

External person

Grace Chao Yeh

  • National Institutes of Health
  • Clinical Pharmacology Branch, Division of Cancer Treatment

External person

Sarah E. Gould

  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • Division of Genomic Medicine

External person

Dawn Earl

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

External person

Lina M. Orrego

  • CSIC
  • CSIC - Institute of Parasitology and Biomedicine López Neyra

External person

Derralynn A. Hughes

  • Department of Haematology
  • University College London
  • Royal Free London NHS Foundation Trust

External person

Aram Comjean

  • Harvard University
  • Drosophila RNAi Screening Center

External person

Kyle A. Wark

  • Southcentral Foundation

External person

Outi Kuismin

  • Department of Clinical Genetics
  • Institute for Molecular Medicine Finland
  • University of Oulu
  • University of Helsinki
  • National Institutes of Health

External person

Anne Mahringer

  • University of Heidelberg
  • Heidelberg University 
  • Institute of Pharmacy and Molecular Biotechnology

External person

Kate Frost

  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • Undiagnosed Diseases Program (UDP)

External person

Camilla Sanders

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

External person

Maura Ruzhnikov

  • Department of Neurology
  • Stanford University

External person

Shoko Komatsuzaki

  • Heidelberg University 
  • Department of General Pediatrics

External person

Daniah Beleford

  • University of California at San Francisco
  • Department of Pediatrics
  • Institute for Human Genetics
  • Pediatrics

External person

Samantha Kleindienst Robler

  • Norton Sound Health Corporation

External person

Chyau Yueh C. Lau

  • National Institutes of Health

External person

Ichiei Narita

  • Niigata University
  • Division of Clinical Nephrology and Rheumatology

External person

J. D. Merker

  • Stanford University
  • Departments of Pathology and Laboratory Medicine & Genetics
  • University of North Carolina at Chapel Hill
  • National Institutes of Health, Bethesda
  • National Institutes of Health

External person

Aaron Shaver

  • Vanderbilt University
  • Department of Pathology

External person

Atma Ivancevic

  • University of Adelaide
  • University of Colorado Boulder

External person

Raman Kumar

  • University of Adelaide

External person

James Shoemaker

  • Saint Louis University
  • Saint Louis University
  • Department of Biochemistry and Molecular Biology
  • Department of Biochemistry and Molecular Biology

External person

Richard D. Palmiter

  • University of Washington
  • University of Washington SL-15
  • Howard Hughes Medical Institute, Department of Biochemistry University of Washington
  • Department of Biochemistry
  • Department of Biochemistry
  • Department of Psychology
  • Howard Hughes Medical Institute

External person

Heino M. Heyman

  • Biological Sciences Division
  • Pacific Northwest National Laboratory
  • Pacific Northwest National Laboratory

External person

Tiina K. Urv

  • Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health
  • National Institutes of Health
  • National Institutes of Health, Bethesda
  • Intellectual and Developmental Disabilities Branch

External person

Alberto B. Burlina

  • Azienda Ospedaliera di Padova
  • U.O.C. Malattie Metaboliche Ereditarie
  • Metabolic Unit

External person

Mitchell Goheen

  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • Undiagnosed Diseases Program (UDP)

External person

Marta M. Majcherska

  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • Stanford University

External person

Fan Xia

  • Baylor College of Medicine
  • Baylor Genetics
  • Baylor Miraca Genetics Laboratories
  • Department of Molecular and Human Genetics
  • Whole Genome Laboratory
  • Baylor Genetics, LLC

External person

Euan Parnell

  • Northwestern University

External person

Emilie D. Douine

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

External person

Martin R. Higgs

  • Institute of Cancer and Genomic Sciences
  • University of Birmingham

External person

Kimberly LeBlanc

  • Department of Biomedical Informatics
  • Harvard University
  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • Harvard

External person

Emily Glanton

  • National Institutes of Health, Bethesda
  • National Institutes of Health

External person

Ronald Lieberman

  • National Institutes of Health

External person

David B. Goldstein

  • National Institutes of Health

External person

E. M. Gerhardt

  • National Institutes of Health
  • Cell Biology and Metabolism Branch

External person

Frank Maley

  • New York State Department of Health
  • Wadsworth Center for Laboratories and Research
  • New York State Department of Health
  • National Institutes of Health

External person

Kyle Thompson

  • Newcastle University

External person

Janet A. Thomas

  • University of Colorado Denver
  • IMD Clinic
  • Children's Hospital Denver
  • Department of Pediatrics
  • Clinical Genetics and Metabolism
  • The Children's Hospital
  • Division of Clinical Genetics and Metabolism
  • Department of Pediatrics
  • Metabolic Diseases Clinic
  • University of Pittsburgh
  • University of Colorado Anschutz Medical Campus
  • University of Colorado Department of Pediatrics

External person

Nikolas Boy

  • Heidelberg University 
  • Department of General Paediatrics
  • Centre for Pediatric and Adolescent Medicine

External person

Rando Allikmets

  • Natl. Cancer Inst.-Frederick C.
  • Columbia University
  • SAIC
  • Department of Pathology and Cell Biology, Columbia University College of Physicians and Surgeons
  • Department of Pathology and Cell Biology, Columbia University College of Physicians and Surgeons
  • Department of Pathology and Cell Biology and Center for Human Genetics
  • Department of Ophthalmology
  • Depts. of Ophthalmol. and Pathology
  • Laboratory of Genomic Diversity
  • National Institutes of Health
  • Intramural Research Support Program
  • Department of Pathology and Cell Biology, Columbia University College of Physicians and Surgeons
  • Department of Pathology and Cell Biology, Columbia University College of Physicians and Surgeons
  • Department of Pathology and Cell Biology, Columbia University College of Physicians and Surgeons

External person

Alanna E. Koehler

  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • Undiagnosed Diseases Program (UDP)

External person

Sabrina Oishi

  • University of Queensland

External person

Lisa M. Bramer

  • Pacific Northwest National Laboratory
  • Pacific Northwest National Laboratory

External person

Euan A. Ashley

  • National Institutes of Health

External person

Patrick Deegan

  • Addenbrooke's Hospital
  • Cambridge University Hospitals NHS Foundation Trust

External person

Karin Oberndorff

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

External person

Alexandre Umpierrez Amaral

  • Universidade Federal do Rio Grande do Sul

External person

Allison Zheng

  • University of California at Los Angeles
  • Functional & Chemical Genomics Research Program
  • Oklahoma Medical Research Foundation
  • National Institutes of Health, Bethesda
  • National Institutes of Health

External person

Silvia Olivera-Bravo

  • Instituto de Investigaciones Biológicas Clemente Estable
  • Instituto de Investigaciones Biologicas Clemente Estable
  • Instituto de Investigaciones Biológicas Clemente Estable

External person

Wyatt J. McDonnell

  • Vanderbilt University
  • Division of Epidemiology

External person

Brett Acton

  • University of Gothenburg
  • University of Gothenburg
  • Departments of Pediatrics
  • National Institutes of Health
  • Biometry Branch
  • Lab. of Cell. and Molec. Physiology
  • Laboratory of Development

External person

Wadih M. Zein

  • National Institutes of Health
  • Ophthalmic Genetics and Visual Function Branch

External person

Eric Hachulla

  • Universite de Lille 2
  • Université de Lille

External person

Adeline Vanderver

  • George Washington University
  • Department of Neurology
  • Children's National Medical Center
  • Department of Integrated Systems Biology
  • University of Pennsylvania
  • The Children's Hospital of Philadelphia

External person

Rebekah Morisse

  • Alaska Division of Public Health
  • Alaska Division of Public Health

External person

Margot I. Van Allen

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

External person

Ana Jovanovic

  • NHS Foundation Trust
  • National Health Service
  • Northern Care Alliance NHS Group

External person

Henrietta Lefroy

  • Oxford University Hospitals NHS Foundation Trust

External person

A. M. Cheatle-Jarvela

  • University of Maryland, College Park

External person

John Pappas

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

External person

Laura G. Hendon

  • Division of Maternal Fetal Medicine
  • University of Mississippi

External person

Sandra Mercier

  • Nantes Université
  • CHU Nantes
  • UMR1089
  • CHU de Nantes
  • L'institut du Thorax
  • Nantes University Hospital (CHU de Nantes)
  • Institut national de la santé et de la recherche médicale

External person