Devin Oglesbee
20022024

Research activity per year

Network

C. Bacino

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

External person

A. Balasubramanyam

  • Baylor College of Medicine
  • Department of Endocrinology, Metabolism and Diabetes
  • Endocrine Service
  • Michael E. DeBakey VA Medical Center
  • BCM
  • BCM
  • Harris Health System

External person

Ashley Andrews

  • University of Utah

External person

Justin Alvey

  • University of Utah

External person

Maria T. Acosta

  • Children's National Medical Center
  • National Institutes of Health

External person

David R. Adams

  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • Office of the Clinical Director
  • Undiagnosed Diseases Network
  • University of Ioannina
  • Department of Pediatrics
  • Undiagnosed Diseases Program
  • Office of the Director

External person

Mahshid Azamian

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

External person

Dustin Baldridge

  • Washington University St. Louis

External person

Deborah Barbouth

  • University of Miami
  • MIAMI
  • MIAMI
  • MIAMI
  • MIAMI
  • AMERICAN ASSOCIATION FOR STDY LIVER DIS

External person

Pinar Bayrak-Toydemir

  • University of Utah
  • Department of Pathology

External person

Gill Bejerano

  • Stanford University
  • Stanford
  • Stanford Center for Undiagnosed Diseases

External person

James F. Bale

  • University of Utah

External person

Silvia Tortorelli

  • Mayo Clinic College of Medicine
  • Mayo Clinic School of Medicine
  • Mayo Clinic College of Medicine and Science
  • Mayo Clinic Rochester, MN
  • Department of Medical Genetics
  • Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Biochemical Genetics Laboratory
  • Dept. of Lab. Medicine and Pathology
  • Department of Medical Genetics
  • Department of Laboratory Medicine and Pathology
  • Biochemical Genetics Laboratory
  • Department of Medical Genetics
  • College of Medicine
  • Department of Clinical Genomics
  • Center for Individualized Medicine, Mayo Clinic
  • Departments of Laboratory Medicine and Pathology
  • Dept. of Lab. Medicine and Pathology
  • Mayo Clinic College of Medicine and Science

External person

Dimitar Gavrilov

  • Mayo Clinic College of Medicine
  • Mayo Clinic School of Medicine
  • Mayo Clinic College of Medicine and Science
  • Mayo Clinic Rochester, MN
  • Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Biochemical Genetics Laboratory
  • Dept. of Lab. Medicine and Pathology
  • Department of Medical Genetics
  • Department of Medical Genetics
  • Department of Laboratory Medicine and Pathology
  • Biochemical Genetics Laboratory
  • Department of Medical Genetics
  • College of Medicine
  • Department of Clinical Genomics
  • Center for Individualized Medicine, Mayo Clinic
  • Departments of Laboratory Medicine and Pathology
  • Department of Laboratory Medicine
  • Clinical Genomics
  • Mayo Clinic College of Medicine and Science

External person

Alan H. Beggs

  • Harvard University
  • Harvard
  • Harvard
  • Brigham and Women’s Hospital

External person

Anna Bican

  • Vanderbilt University
  • Vanderbilt Clinic
  • Vanderbilt Center for Undiagnosed Diseases

External person

Laura M. Amendola

  • University of Washington
  • Clinical Sequencing Exploratory Research Coordinating Center
  • Department of Medicine, Division of Cardiology, University of Washington
  • Division of Medical Genetics
  • PNW Research Station
  • Illumina, Inc.

External person

Michael Bamshad

  • University of Washington
  • PNW Research Station
  • Brotman Baty Institute for Precision Medicine

External person

Jonathan A. Bernstein

  • Perinatal Epidemiology and Health Outcomes Research Unit
  • Stanford University
  • Department of Pediatrics
  • Stanford
  • Stanford Center for Undiagnosed Diseases

External person

Margaret P. Adam

  • Emory University
  • University of Washington
  • Department of Human Genetics
  • Department of Pediatrics
  • Department of Human Genetics
  • PNW Research Station

External person

Piero Rinaldo

  • Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Mayo Clinic College of Medicine
  • Yale University
  • Aarhus University
  • Division of Laboratory Genetics
  • Dept. of Lab. Med. and Pathology
  • Mayo Clinic School of Medicine
  • University of Alabama
  • Department of Laboratory Medicine and Pathology
  • Mayo Clinic College of Medicine and Science
  • Mayo Clinic Rochester, MN
  • Department of Medical Genetics
  • Department of Laboratory Medicine and Pathology
  • Research Unit for Molecular Medicine
  • Biochemical Genetics Laboratory
  • Department of Pediatric and Adolescent Medicine
  • Dept. of Lab. Medicine and Pathology
  • Department of Medical Genetics
  • Department of Laboratory Medicine and Pathology
  • Biochemical Genetics Laboratory
  • Department of Experimental Pathology and Laboratory Medicine
  • College of Medicine
  • Department of Clinical Genomics
  • Departments of Laboratory Medicine and Pathology
  • Dept. of Lab. Medicine and Pathology
  • Biochemical Genetics Laboratory
  • Laboratory Medicine
  • Department of Genetics
  • Division of Laboratory Genetics
  • Mayo Clinic College of Medicine and Science

External person

Anita E. Beck

  • University of Washington
  • Section of Neonatology
  • PNW Research Station
  • Seattle Children's Hospital

External person

Gerard T. Berry

  • Thomas Jefferson University
  • Harvard University
  • Division of Hematology/Oncology
  • Harvard
  • Harvard
  • Brigham and Women’s Hospital
  • Boston Children's Hospital

External person

Euan Ashley

  • United States Army
  • Stanford University
  • School of Medicine
  • Department of Family Medicine
  • Division of Cardiovascular Medicine
  • School of Medicine
  • Division of Cardiovascular Medicine
  • Stanford University
  • Stanford

External person

Mercedes E. Alejandro

  • BCM
  • Baylor College of Medicine
  • BCM

External person

Stephanie Bivona

  • University of Miami
  • MIAMI
  • MIAMI
  • MIAMI
  • MIAMI
  • AMERICAN ASSOCIATION FOR STDY LIVER DIS

External person

Eva H. Baker

  • University of Minnesota Twin Cities
  • Department of Radiology
  • Department of Radiology
  • Center for Magnetic Resonance Research
  • National Institutes of Health

External person

Pankaj B. Agrawal

  • Divisions of Genetics and Genomics and Newborn Medicine
  • Harvard University
  • Division of Genetics and Genomics
  • Harvard
  • Harvard
  • Boston Children's Hospital
  • Brigham and Women’s Hospital

External person

Kimiyo Raymond

  • Mayo Clinic School of Medicine
  • Mayo Clinic College of Medicine
  • Mayo Clinic College of Medicine and Science
  • Mayo Clinic Rochester, MN
  • Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Division of Laboratory Genetics
  • Biochemical Genetics Laboratory
  • Dept. of Lab. Medicine and Pathology
  • Department of Medical Genetics
  • Department of Laboratory Medicine and Pathology
  • Biochemical Genetics Laboratory
  • Mayo Clinic College of Medicine
  • Department of Medical Genetics
  • College of Medicine
  • Department of Clinical Genomics
  • Departments of Laboratory Medicine and Pathology
  • Clinical Genomics
  • Center for Individualized Medicine, Mayo Clinic
  • Children's Memorial Health Institute
  • Mayo Clinic College of Medicine and Science

External person

Edward M. Behrens

  • Department of Pediatrics
  • University of Pennsylvania
  • CHOP
  • The Children's Hospital of Philadelphia

External person

G. Bademci

  • University of Miami
  • MIAMI
  • MIAMI
  • MIAMI
  • MIAMI
  • AMERICAN ASSOCIATION FOR STDY LIVER DIS

External person

Beverly Berg-Rood

  • University of Washington
  • PNW Research Station

External person

Devon Bonner

  • Stanford University
  • Stanford
  • Stanford Center for Undiagnosed Diseases

External person

Elizabeth Blue

  • University of Washington
  • PNW Research Station
  • Brotman Baty Institute for Precision Medicine

External person

John Bohnsack

  • University of Utah

External person

Lorenzo D. Botto

  • University of Utah
  • Department of Pediatrics

External person

Lauren C. Briere

  • Harvard University
  • Harvard
  • Harvard
  • Brigham and Women’s Hospital
  • Massachusetts General Hospital

External person

Jimmy Bennet

  • University of Washington

External person

Hugo J. Bellen

  • Baylor College of Medicine
  • Texas Children’s Hospital
  • BCM
  • Howard Hughes Medical Institute
  • Jan and Dan Duncan Neurological Research Institute
  • Texas Children's Hospital
  • Texas Children's Hospital Houston

External person

Carsten Bonnenmann

  • National Institutes of Health

External person

Lindsay C. Burrage

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

External person

Brenna Boyd

  • University of Washington
  • PNW Research Station

External person

Elly Brokamp

  • Vanderbilt University
  • Vanderbilt Clinic
  • Vanderbilt Center for Undiagnosed Diseases

External person

Coleman T. Turgeon

  • Mayo Clinic College of Medicine
  • Mayo Clinic School of Medicine
  • Mayo Clinic College of Medicine and Science
  • Mayo Clinic Rochester, MN
  • Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Biochemical Genetics Laboratory
  • Department of Laboratory Medicine and Pathology
  • Biochemical Genetics Laboratory
  • Mayo Clinic College of Medicine
  • Center for Individualized Medicine, Mayo Clinic
  • Mayo Clinic College of Medicine and Science

External person

Guney Bademci

  • University of Miami

External person

Lisa Emrick

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

External person

James T. Bennett

  • University of Washington
  • Section of Neonatology
  • Children's Hospital and Regional Medical Center Seattle
  • PNW Research Station
  • Brotman Baty Institute for Precision Medicine

External person

Jill Rosenfeld

  • PerkinElmer Inc.
  • PerkinElmer, Inc.
  • Signature Genomics
  • PerkinElmer, Inc.
  • Baylor College of Medicine
  • Signature Genomic Laboratories
  • Department of Molecular and Human Genetics
  • Exome Laboratory
  • Baylor Miraca Genetics Laboratory
  • PerkinElmer, Inc.
  • Baylor Genetics, LLC
  • BCM
  • BCM

External person

Elizabeth A. Burke

  • National Institutes of Health

External person

Heidi Cope

  • Duke University
  • Duke Hospital
  • Duke
  • Duke Nashville

External person

Vandana Shashi

  • Duke University
  • Duke Hospital
  • Duke
  • Duke Nashville

External person

Euan A. Ashley

  • Stanford University
  • Stanford Center for Undiagnosed Diseases

External person

Hongzheng Dai

  • Baylor College of Medicine
  • BCM
  • BCM
  • Baylor Genetics, LLC

External person

M. J. Magera

  • Mayo Clinic College of Medicine
  • Dept. of Lab. Medicine and Pathology
  • Mayo Clinic College of Medicine and Science
  • Mayo Clinic Rochester, MN
  • Biochemical Genetics Laboratory
  • Biochemical Genetics Laboratory
  • Department of Laboratory Medicine and Pathology
  • Dept. of Lab. Medicine and Pathology
  • Dept. of Lab. Medicine and Pathology
  • Division of Laboratory Genetics
  • Mayo Clinic College of Medicine and Science

External person

Kelly Schoch

  • Department of Pediatrics
  • Duke University
  • Duke Hospital
  • Duke
  • Duke Nashville

External person

Raquel L. Alvarez

  • Stanford Center for Undiagnosed Diseases

External person

Gabrielle Brown

  • University of California at Los Angeles

External person

Rebecca C. Spillmann

  • Duke Hospital
  • Duke University
  • Duke
  • Duke Nashville
  • Harvard University

External person

Patrick Allard

  • University of California at Los Angeles

External person

William J. Craigen

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

External person

Hsiao Tuan Chao

  • Baylor College of Medicine
  • Department of Neuroscience
  • Jan and Dan Duncan Neurological Research Institute
  • Department of Pediatrics
  • BCM
  • The Robert and Janice McNair Foundation
  • BCM
  • Texas Children's Hospital Houston
  • Jan and Dan Duncan Neurological Research Institute
  • Jan and Dan Duncan Neurological Research Institute

External person

Gabriel F. Batzli

  • National Institutes of Health

External person

Ellen F. Macnamara

  • National Institutes of Health

External person

Kimberly Leblanc

  • Harvard University
  • Harvard
  • Harvard

External person

Oguz Kanca

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

External person

Alyssa A. Tran

  • BCM
  • Baylor College of Medicine
  • BCM

External person

Camille L. Birch

  • HudsonAlpha Institute of Biotechnology
  • HudsonAlpha Institute for Biotechnology

External person

Alica Goldman

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

External person

Manish J. Butte

  • University of California at Los Angeles

External person

Seema R. Lalani

  • Department of Molecular and Human Genetics
  • Baylor College of Medicine
  • Medical Genetics Laboratories (MGL)
  • BCM
  • BCM
  • Texas Children's Hospital Houston

External person

Fariha Jamal

  • Baylor College of Medicine
  • BCM
  • BCM

External person

Brendan H L Lee

  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Howard Hughes Medical Institute
  • Dept. of Molec. and Human Genetics
  • BCM
  • BCM
  • Texas Children's Hospital Houston

External person

David R. Murdock

  • Department of Molecular and Human Genetics
  • Baylor College of Medicine
  • Human Genome Sequencing Center
  • BCM
  • BCM
  • University of Texas Health Science Center at Houston

External person

Matthew T. Wheeler

  • Stanford University
  • Stanford
  • Stanford Center for Undiagnosed Diseases

External person

C. Toro

  • National Institutes of Health, National Human Genome Research Institute
  • NIH
  • National Institutes of Health, Bethesda
  • National Cancer Institute United States
  • National Institutes of Health
  • Office of the Clinical Director
  • Undiagnosed Diseases Program
  • Office of the Director

External person

Richard A. Lewis

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

External person

Lefkothea Karaviti

  • Baylor College of Medicine
  • BCM
  • BCM

External person

Gary D. Clark

  • Baylor College of Medicine
  • BCM
  • BCM

External person

J. M. Lacey

  • Department of Laboratory Medicine and Pathology
  • Mayo Clinic College of Medicine and Science
  • Mayo Clinic College of Medicine
  • Mayo Clinic Rochester, MN
  • Biochemical Genetics Laboratory
  • Division of Laboratory Genetics
  • Dept. of Lab. Medicine and Pathology
  • Mayo Clinic College of Medicine and Science

External person

N. A. Hanchard

  • Baylor College of Medicine
  • Mayo Clinic Rochester, MN
  • Department of Pediatric and Adolescent Medicine
  • BCM
  • BCM

External person

Jennefer N. Kohler

  • Stanford University
  • Stanford
  • Stanford Center for Undiagnosed Diseases

External person

Pengfei Liu

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

External person

Dawn S. Peck

  • Mayo Clinic Rochester, MN
  • Biochemical Genetics Laboratory
  • Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Department of Genetics

External person

Si Houn Hahn

  • Mayo Clinic College of Medicine
  • Mayo Clinic College of Medicine and Science
  • Mayo Clinic Rochester, MN
  • Department of Pediatric and Adolescent Medicine
  • Department of Medical Genetics
  • Department of Medical Genetics
  • Biochemical Genetics Laboratory
  • Department of Laboratory Medicine and Pathology
  • Dept. of Lab. Medicine and Pathology
  • Biochemical Genetics Laboratory
  • Laboratory Medicine
  • University of Washington
  • PNW Research Station
  • Mayo Clinic College of Medicine and Science

External person

Perry R. Loken

  • Mayo Clinic College of Medicine
  • Mayo Clinic College of Medicine and Science
  • Biochemical Genetics Laboratory
  • Mayo Clinic Rochester, MN
  • Division of Nephrology and Hypertension
  • Mayo Clinic College of Medicine and Science

External person

Cynthia J. Tifft

  • Children's National Medical Center
  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • Office of the Clinical Director
  • Undiagnosed Diseases Program
  • Office of the Director
  • Children's National Medical Center

External person

Chloe M. Reuter

  • Stanford Center for Undiagnosed Diseases
  • Stanford University
  • Stanford

External person

Amy L. White

  • Mayo Clinic Rochester, MN

External person

Ester Perales-Clemente

  • Center for Regenerative Medicine, Mayo Clinic
  • Mayo Clinic Rochester, MN
  • Center for Regenerative Medicine, Mayo Clinic
  • Department of Medicine and Transplant Center
  • Center for Regenerative Medicine
  • Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Wanek Program for Hypoplastic Left Heart Syndrome
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic

External person

Anna Alkelai

  • Columbia University

External person

Kirsty McWalter

  • GeneDX Inc
  • OPKO Health, Inc.

External person

Christina G.S. Palmer

  • University of California at Los Angeles

External person

Christina C Lam

  • PNW Research Station
  • University of Washington
  • Children's Hospital and Regional Medical Center Seattle
  • Seattle Children’s Research Institute
  • Seattle Children's Research Institute
  • Seattle Children's Hospital

External person

Shruti Marwaha

  • Stanford Center for Undiagnosed Diseases
  • Stanford
  • Stanford University

External person

Lynne A. Wolfe

  • University of Pittsburgh School of Medicine
  • University of Pittsburgh
  • National Institutes of Health, Bethesda
  • Department of Genetics
  • National Institutes of Health
  • Yale University
  • Faculty for the North American Metabolic Academy (NAMA
  • Departments of Pediatrics
  • Department of Pediatrics

External person

A. L. Studinski

  • Mayo Clinic Rochester, MN
  • Biochemical Genetics Laboratory

External person

Noemi Vidal-Folch

  • Mayo Clinic Rochester, MN
  • Mayo Clinic College of Medicine and Science
  • Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Departments of Laboratory Medicine and Pathology
  • Mayo Clinic College of Medicine and Science

External person

Peter H. Byers

  • University of Washington
  • Department of Pathology, University of Washington
  • Department of Medicine, Division of Cardiology, University of Washington
  • Department of Medicine
  • Department of Pathology
  • Departments of Pathology
  • Departments of Pathology and Medicine (Medical Genetics)
  • Department of Medicine (Medical Genetics), University of Washington
  • PNW Research Station

External person

Joel B. Krier

  • Harvard University
  • Harvard
  • Harvard
  • Undiagnosed Diseases Network
  • Brigham and Women’s Hospital

External person

Ronit Marom

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

External person

David Bick

  • Medical College of Wisconsin
  • Department of Pediatrics
  • HudsonAlpha Institute for Biotechnology
  • HudsonAlpha Institute of Biotechnology

External person

Emily G. Kelley

  • Harvard University
  • Harvard
  • Harvard
  • Color Genomics

External person

Gessi Bentz Pino

  • Mayo Clinic College of Medicine
  • Mayo Clinic College of Medicine and Science
  • Department of Laboratory Medicine and Pathology
  • Mayo Clinic Rochester, MN
  • Biochemical Genetics Laboratory
  • Mayo Clinic College of Medicine and Science

External person

Matthew J. Schultz

  • Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Mayo Clinic Rochester, MN
  • Division of Laboratory Genetics and Genomics
  • Mayo Clinic College of Medicine and Science
  • Mayo Clinic College of Medicine and Science

External person

Carlos R. Ferreira

  • Division of Genetics and Metabolism
  • Children's National Medical Center
  • National Institutes of Health
  • University of Toronto
  • University of Coimbra

External person

William A. Gahl

  • National Institutes of Health
  • NHGRI

External person

Maria J. Guillen Sacoto

  • GeneDX Inc
  • Clinical Genomics Program
  • OPKO Health, Inc.

External person

Roderick A. Capaldi

  • MitoSciences, Inc.
  • University of Oregon
  • Department of Biology
  • Institute of Molecular Biology
  • Department of Molecular Biology
  • Institute of Molecular Biology

External person

Karen A. Sanders

  • Mayo Clinic College of Medicine
  • Mayo Clinic College of Medicine and Science
  • Biochemical Genetics Laboratory
  • Mayo Clinic Rochester, MN
  • Mayo Clinic College of Medicine and Science

External person

Lance H. Rodan

  • Harvard University
  • Divisions of Genetics and Genomics and Newborn Medicine
  • Department of Pediatrics
  • Division of Genetics and Genomics
  • Harvard
  • Harvard
  • Boston Children's Hospital
  • Brigham and Women’s Hospital

External person

Stan F. Nelson

  • University of California at Los Angeles
  • Center for Neurobehavioral Genetics
  • Department of Human Genetics

External person

Patricia L. Hall

  • EGL Genetics
  • Department of Human Genetics
  • Emory University
  • Mayo Clinic College of Medicine and Science
  • Mayo Clinic College of Medicine and Science
  • Mayo Clinic Rochester, MN

External person

Michael F. Wangler

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

External person

Queenie K.G. Tan

  • Duke University
  • Duke Hospital
  • Duke
  • Duke Nashville

External person

Cecilia Esteves

  • Harvard University
  • Harvard
  • Harvard

External person

María Palomares-Bralo

  • Universidad Autónoma de Madrid
  • Instituto de Salud Carlos III
  • CIBER - Center for Biomedical Research Network
  • Centro de Investigación Biomédica en Red
  • Hospital Universitario La Paz

External person

Jennifer E. Posey

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

External person

Rizwan Hamid

  • Vanderbilt University
  • Vanderbilt Clinic
  • Vanderbilt Center for Undiagnosed Diseases

External person

Rami Abou Jamra

  • Leipzig University
  • Institute of Human Genetics

External person

Mustafa Tekin

  • Department of Pediatrics
  • Ankara University
  • University of Miami
  • MIAMI
  • MIAMI
  • MIAMI
  • MIAMI
  • AMERICAN ASSOCIATION FOR STDY LIVER DIS

External person

Matthew Might

  • Harvard
  • University of Alabama at Birmingham

External person

Allyn Mcconkie-rosell

  • Duke University
  • Duke Hospital
  • Duke Nashville

External person

Nicholas Stong

  • Institute for Genomic Medicine
  • Columbia University
  • Brystol Myers Squibb
  • COLUMBIA
  • Bristol-Myers Squibb

External person

Nicole M. Walley

  • Duke University
  • Duke Hospital
  • Duke
  • Duke Nashville

External person

Maura Ruzhnikov

  • Stanford University
  • Stanford
  • Stanford Center for Undiagnosed Diseases

External person

Fred Lorey

  • California State Department of Health
  • Genetic Disease Screening Program
  • California Department of Public Heath
  • California Department of Public Health
  • California Department of Health Services
  • California Department of Public Health
  • California Department of Public Heath

External person

Jennifer A. Sullivan

  • Department of Pediatrics
  • Duke University
  • Duke Hospital
  • University of Oklahoma
  • Duke
  • Duke Nashville

External person

Mary Koziura

  • Vanderbilt University

External person

Daniel Wegner

  • Washington University St. Louis

External person

Christopher Lau

  • Memorial Sloan Kettering Cancer Center
  • Memorial Sloan-Kettering Cancer Center
  • Department of Pathology
  • National Institutes of Health
  • Undiagnosed Diseases Network

External person

James P. Orengo

  • Baylor College of Medicine
  • BCM
  • BCM

External person

Lynette Rives

  • Vanderbilt University
  • Vanderbilt Clinic
  • Vanderbilt Center for Undiagnosed Diseases

External person

S. James Remington

  • Department of Physics
  • University of Oregon
  • Institute of Molecular Biology
  • Institute of Molecular Biology

External person

Jason Hom

  • Stanford University
  • Stanford
  • Stanford Center for Undiagnosed Diseases

External person

Stephan Züchner

  • University of Miami

External person

J. Carl Pallais

  • Harvard University
  • Harvard
  • Harvard
  • Brigham and Women’s Hospital

External person

Holly K. Tabor

  • University of Washington
  • Section of Neonatology
  • Stanford University
  • Stanford
  • Stanford Center for Undiagnosed Diseases

External person

Thomas C. Markello

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

External person

John Carey

  • University of Utah

External person

Anne Hing

  • University of Washington
  • PNW Research Station

External person

Aimee Allworth

  • University of Washington

External person

Tiphanie P. Vogel

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

External person

John H. Newman

  • Vanderbilt University
  • Vanderbilt Center for Undiagnosed Diseases

External person

Precilla D'Souza

  • National Institutes of Health

External person

Laura Duncan

  • Vanderbilt University
  • Vanderbilt Clinic
  • Vanderbilt Center for Undiagnosed Diseases

External person

Rebecca Signer

  • University of California at Los Angeles

External person

Virginia P. Sybert

  • University of Washington
  • Group Health Cooperative
  • Division of Medical Genetics
  • Department of Genetics
  • Division of Medical Genetics
  • University of Washington
  • PNW Research Station

External person

Ramanath Majumdar

  • Mayo Clinic College of Medicine
  • Mayo Clinic College of Medicine and Science
  • Mayo Clinic Rochester, MN
  • Department of Surgery
  • Department of Surgery
  • Division of Cardiovascular Surgery
  • Mayo Clinic College of Medicine and Science

External person

Hane Lee

  • University of California at Los Angeles

External person

J. M. Stoler

  • Harvard University
  • Division of Genetics
  • Department of Pediatrics
  • Harvard
  • Harvard
  • Undiagnosed Diseases Network
  • Boston Children's Hospital
  • Brigham and Women’s Hospital
  • Massachusetts General Hospital

External person

Julie S. Cohen

  • Division of Neurogenetics
  • Hugo W. Moser Research Institute
  • Kennedy Krieger Institute
  • Johns Hopkins University

External person

Pascal Joset

  • University of Zurich
  • University of Basel

External person

Jorge Granadillo

  • Washington University St. Louis

External person

Elizabeth L. Fieg

  • Harvard University
  • Harvard
  • Harvard
  • Brigham and Women’s Hospital

External person

Michael S. Watson

  • American College of Medical Genetics
  • American Society Nuclear Cardiology
  • American College of Medical Genetics
  • Self-employed

External person

Julian A. Martínez-Agosto

  • Harbor-UCLA Medical Center and Los Angeles Biomedical Research Institute
  • University of California at Los Angeles
  • Department of Human Genetics

External person

Shinya Yamamoto

  • Jan and Dan Duncan Neurological Research Institute
  • Department of Molecular and Human Genetics
  • Program in Developmental Biology
  • Baylor College of Medicine
  • Department of Neuroscience
  • Texas Children’s Hospital
  • BCM
  • Jan and Dan Duncan Neurological Research Institute
  • Texas Children's Hospital Houston
  • BCM

External person

Diane B. Zastrow

  • Stanford University
  • Stanford

External person

Sarah K. Nicholas

  • Baylor College of Medicine
  • BCM
  • BCM

External person

Kendra L. Engleman

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

External person

Paolo M. Moretti

  • University of Utah
  • Baylor College of Medicine
  • BCM
  • BCM

External person

L. Gilbert Vezina

  • Children's National Medical Center

External person

Amy K. Robertson

  • Vanderbilt University
  • Vanderbilt Clinic
  • Vanderbilt Center for Undiagnosed Diseases

External person

Donna Novacic

  • National Institutes of Health

External person

Robert Currier

  • California Department of Public Heath
  • California Department of Public Health
  • California Department of Public Heath
  • University of California at San Francisco
  • California Department of Health Services

External person

Wendy Raskind

  • Univ. of Washington Sch. of Medicine
  • University of Washington
  • Department of Neurology
  • Clinical Research Division, Fred Hutchinson Cancer Research Center and Division of Medical Oncology, Department of Medicine, University of Washington School of Medicine
  • PNW Research Station

External person

Liliana Fernandez

  • Stanford University
  • Stanford
  • Stanford Center for Undiagnosed Diseases

External person

Susan L. Samson

  • Mayo Clinic Jacksonville, FL
  • Baylor College of Medicine
  • BCM
  • BCM
  • University of California at San Francisco

External person

Gail P. Jarvik

  • University of Washington
  • PNW Research Station
  • Departments of Medicine Medical Genetics
  • Division of Medical Genetics
  • Washington University St. Louis
  • Brotman Baty Institute for Precision Medicine

External person

Martha J. Horike-Pyne

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

External person

George T. Hanson

  • Department of Chemistry
  • Invitrogen Corporation
  • University of Oregon
  • Institute of Molecular Biology
  • Institute of Molecular Biology

External person

Joseph J. Orsini

  • Wadsworth Center for Laboratories and Research
  • Division of Environmental Health Sciences

External person

Wadih M. Zein

  • National Cancer Institute United States
  • National Institutes of Health
  • National Institutes of Health

External person

William E. Byrd

  • University of Alabama at Birmingham

External person

David B. Goldstein

  • Institute for Genomic Medicine
  • Columbia University
  • Duke University
  • Institute for Genomic Medicine
  • Center for Human Genome Variation
  • University of Missouri
  • COLUMBIA

External person

Austin A. Larson

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

External person

Janet S. Sinsheimer

  • University of California at Los Angeles

External person

Anita Rauch

  • University of Zurich

External person

William J. Laxen

  • Mayo Clinic Rochester, MN
  • Mayo Clinic College of Medicine and Science
  • Mayo Clinic College of Medicine and Science

External person

Daniel Doherty

  • University of Washington
  • PNW Research Station
  • Brotman Baty Institute for Precision Medicine

External person

Christine M. Eng

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

External person

Ghayda M. Mirzaa

  • University of Washington
  • Section of Neonatology
  • Seattle Children's Research Institute
  • Children's Hospital and Regional Medical Center Seattle
  • Brotman Baty Institute for Precision Medicine
  • PNW Research Station

External person

I. A. Glass

  • University Department of Medical Genetics, University of Glasgow
  • Birmingham Maternity Hospital
  • University of Glasgow
  • Queen Elizabeth Hospital
  • Department of Medical Genetics
  • University Hospitals Birmingham NHS Foundation Trust
  • Women's and Children's Hospital Adelaide
  • Department of Cytogenetics and Molecular Genetics
  • University of Washington
  • PNW Research Station
  • Brotman Baty Institute for Precision Medicine

External person

Loren D.M. Pena

  • University of Cincinnati
  • Cincinnati Children's Hospital Medical Center

External person

Matt Velinder

  • University of Utah

External person

Jennifer L. Kemppainen

  • Mayo Clinic Rochester, MN
  • Clinical Genomics
  • Center for Individualized Medicine, Mayo Clinic
  • Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Mayo Clinic College of Medicine and Science
  • Mayo Clinic College of Medicine and Science

External person

Silvia Radenkovic

  • Metabolomics Expertise Center
  • Laboratory of Hepatology
  • KU Leuven
  • Flanders Institute for Biotechnology
  • Laboratory for Translational Genetics
  • Mayo Clinic Rochester, MN

External person

John A. Phillips

  • Vanderbilt Univ. School of Medicine
  • Vanderbilt University
  • The Johns Hopkins Medical Institutions
  • Johns Hopkins University
  • Department of Pediatrics
  • Mayo Clinic Rochester, MN
  • Department of Biochemistry and Molecular Biology, Mayo Clinic
  • Vanderbilt Clinic

External person

Fernando Santos-Simarro

  • Universidad Autónoma de Madrid
  • CIBER - Center for Biomedical Research Network
  • Instituto de Salud Carlos III
  • Centro de Investigación Biomédica en Red
  • Hospital Universitario La Paz

External person

Sirisak Chanprasert

  • University of Washington
  • PNW Research Station

External person

Jijun Wan

  • University of California at Los Angeles

External person

John J. Mulvihill

  • University of Oklahoma
  • Univ. of Oklahoma Hlth. Sci. Center
  • Department of Pediatrics
  • Department of Pediatrics
  • National Institutes of Health

External person

Lorraine Potocki

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

External person

Nicholas Borja

  • University of Miami

External person

S. Odent

  • CNRS
  • Service de Génétique Clinique
  • CHU de Rennes
  • École nationale supérieure de chimie de Rennes
  • Institut de Génétique et Développement de Rennes
  • Hôpital Sud
  • Hôpital SUD

External person

Lee Kai Wang

  • University of California at Los Angeles

External person

Jacinda B. Sampson

  • Stanford University
  • Stanford
  • Stanford Center for Undiagnosed Diseases

External person

Emily H. Smith

  • Mayo Clinic College of Medicine
  • Mayo Clinic College of Medicine and Science
  • Mayo Clinic Rochester, MN
  • Dept. of Lab. Medicine and Pathology
  • Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Department of Laboratory Medicine and Pathology
  • Mayo Clinic College of Medicine and Science

External person

Konrad Platzer

  • Leipzig University
  • Institute of Human Genetics
  • Institute of Human Genetics

External person

Chris A. Walsh

  • Departments of Neurology and Pediatrics
  • Broad Institute
  • Harvard University
  • Division of Genetics and Genomics
  • Department of Neurology
  • Division of Genetics
  • Department of Pediatrics
  • Department of Neurology
  • Division of Neurogenetics
  • Harvard
  • Harvard
  • Washington University St. Louis
  • Boston Children's Hospital
  • Brigham and Women’s Hospital

External person

Mariska Davids

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

External person

David McHugh

  • Mayo Clinic College of Medicine
  • Mayo Clinic College of Medicine and Science
  • Mayo Clinic Rochester, MN
  • Dept. of Lab. Medicine and Pathology
  • Department of Laboratory Medicine and Pathology
  • Mayo Clinic College of Medicine and Science

External person

Jonathan C. Andrews

  • Department of Molecular and Human Genetics
  • Baylor College of Medicine
  • Jan and Dan Duncan Neurological Research Institute

External person

Joy Cogan

  • Vanderbilt University
  • Vanderbilt Center for Undiagnosed Diseases

External person

Robert Aggeler

  • Department of Biology
  • University of Oregon
  • Institute of Molecular Biology
  • Institute of Molecular Biology

External person

Frédéric Bilan

  • CHU de Poitiers
  • Université de Poitiers

External person

Emilie D. Douine

  • University of California at Los Angeles
  • Department of Human Genetics

External person

Melissa Walker

  • Harvard University
  • Harvard
  • Broad Institute
  • Harvard
  • Massachusetts General Hospital

External person

Anna Nagy

  • Harvard University
  • Harvard

External person

Marta Pacio-Míguez

  • Universidad Autónoma de Madrid
  • Instituto de Salud Carlos III
  • Hospital Universitario La Paz

External person

M. H. Wener

  • University of Washington
  • PNW Research Station
  • University of Washington

External person

Irman Forghani

  • University of Miami
  • MIAMI
  • MIAMI
  • MIAMI
  • MIAMI
  • AMERICAN ASSOCIATION FOR STDY LIVER DIS

External person

Margot A. Cousin

  • Mayo Clinic
  • Mayo Clinic College of Medicine and Science
  • Mayo Clinic Rochester, MN
  • University of Toronto
  • Department of Psychology
  • Department of Biochemistry and Molecular Biology, Mayo Clinic
  • Department of Health Sciences and Research, Mayo Clinic
  • Center for Individualized Medicine, Mayo Clinic
  • Center for Clinical and Translational Science
  • Center for Clinical and Translational Science, Mayo Clinic
  • Center for Individualized Medicine
  • Mayo Clinic College of Medicine and Science

External person

Catharine John

  • KK Women's and Children's Hospital
  • KK Women's and Children's Hospital

External person

Golam Sarwar

  • University of Chicago Research Bangladesh

External person

Jonessy Quesada

  • Hospital Nacional de Niños
  • Hospital Nacional de Ninos Dr. Carlos Saenz Herrera
  • Caja Costarricense de Seguro Social

External person

J. Austin Hamm

  • East Tennessee Children's Hospital

External person

Patricia A. Ward

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

External person

Laurence Faivre

  • GEMO Study: Cancer Genetics Network Groupe Génétique et Cancer
  • CLCC Georges Francois Leclerc
  • CHU Dijon
  • Centre de Lutte Contre le Cancer Georges François Leclerc
  • Centre Georges François Leclerc
  • CHU
  • Centre Hospitalier Universitaire de St Etienne
  • CHU de Dijon
  • Université de Bourgogne
  • CHU de Saint-Étienne
  • Centre Georges-François Leclerc
  • Centre de Lutte Contre le Cancer Georges François Leclerc
  • Centre de Lutte Contre le Cancer Georges François Leclerc
  • Centre de Génétique
  • Centre de Lutte Contre le Cancer Georges François Leclerc
  • National Cancer Genetics Network
  • UNICANCER Genetic Group
  • Service de Génétique Clinique Chromosomique et Moléculaire
  • Centre de Génétique
  • Genetics Department
  • Centre de Génétique
  • Institut Curie
  • National Cancer Genetics Network
  • Equipe GAD
  • Centre de Génétique
  • Centre de lutte contre le cancer Georges François Leclerc
  • Centre Hospitalier Chambery
  • Microbiologie
  • FHU-TRANSLAD
  • National Cancer Genetics Network
  • Hôpital d'Enfants CHU Dijon
  • INSERM
  • Functional Unit for Diagnostic Innovation in Rare Diseases

External person

Francisca Millan

  • GeneDX Inc
  • OPKO Health, Inc.

External person

S. Graham Caldwell

  • South Carolina Department of Health and Environmental Control

External person

Shawn M. Lamothe

  • University of Alberta

External person

Roger L. Ladda

  • Pennsylvania State University

External person

Alana Grajewski

  • University of Miami
  • MIAMI
  • MIAMI
  • MIAMI
  • MIAMI
  • AMERICAN ASSOCIATION FOR STDY LIVER DIS

External person

Francesca Teofoli

  • Azienda Ospedaliera Universitaria Integrata di Verona
  • Azienda Ospedaliera Universitaria Integrata di Verona
  • Ospedale Policlinico

External person

Shengru Guo

  • University of Miami
  • Department of Biology

External person

Amy Hietala

  • Minnesota Department of Health

External person

Consuelo Ruiz

  • Universidad Auto ́noma de Nuevo León
  • Universidad Autonoma de Nuevo Leon
  • Universidad Autó noma de Nuevo Leó n
  • Universidad Autonoma de Nuevo Leon

External person

D. Cassiman

  • Departments of Internal Medicine and Pediatrics
  • KU Leuven
  • Department of Gastroenterology-Hepatology and Metabolic Center
  • Department of Pediatrics
  • Laboratory of Hepatology
  • Centre for Metabolic Diseases
  • Metabolic Center
  • Department of Hepatology
  • Department of Hepatology of the Unversity Hospitals

External person

Pei Tseng Lee

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

External person

David J. Eckstein

  • National Institutes of Health

External person

Jón J. Jónsson

  • Landspitali-University of Iceland
  • University of Iceland
  • Department of Genetics and Molecular Medicine

External person

Roland Schoos

  • University of Liege
  • Centre Hospitalier Universitaire de Liège

External person

Adrienne Manning

  • Public Health Laboratory
  • Connecticut Agricultural Experiment Station
  • Connecticut Department

External person

Katharina Steindl

  • University of Zurich

External person

Barbara Lesko

  • Indiana Newborn Screening Laboratory

External person

Olveen Carrasquillo

  • University of Miami
  • MIAMI
  • MIAMI
  • MIAMI
  • MIAMI
  • AMERICAN ASSOCIATION FOR STDY LIVER DIS

External person

Jean Marc Good

  • University of Lausanne

External person

Lars Mørkrid

  • Rikshospitalet-Radiumhospitalet HF
  • University of Oslo
  • KG Jebsen Center for Breast Cancer Research
  • Department of Medical Biochemistry
  • Department of Medical Biochemistry

External person

Darrin W. Sevier

  • Kentucky Department for Public Health

External person

Natalie Shallow

  • Vanderbilt University

External person

Jimann Shin

  • Harvard University
  • Infinity Pharmaceuticals, Inc.
  • Department of Pediatric Oncology
  • Department of Pediatric Oncology
  • Infinity Pharmaceuticals, Inc.
  • Washington University St. Louis
  • Université d'Angers
  • University of California at Los Angeles

External person

Gabor T. Marth

  • University of Utah
  • Boston College
  • Department of Biology
  • USTAR Center for Genetic Discovery

External person

Maria Iascone

  • Ospedali Riuniti di Bergamo
  • Laboratorio di Genetica Medica
  • Papa Giovanni XXIII Hospital

External person

Gary L. Hoffman

  • Screeningzentrum Hessen
  • University of Wisconsin-Madison
  • Screening-Zentrum Hessen

External person

Lawrence C. Greed

  • Princess Margaret Hospital for Children
  • Department of Clinical Biochemistry

External person

Cynthia M. Cooper

  • Harvard University
  • Harvard
  • Harvard
  • Brigham and Women’s Hospital

External person

Beth A. Martin

  • Stanford University
  • Stanford
  • Stanford Center for Undiagnosed Diseases

External person

Eric Wever

  • Amsterdam UMC
  • University of Amsterdam
  • Amsterdam UMC
  • Biostatistics and Bioinformatics
  • Amsterdam UMC

External person

Mark Tarnopolsky

  • McMaster University
  • Division of Hematology/Oncology
  • Department of Medicine
  • McMaster University
  • National Institutes of Health
  • Hamilton Health Sciences

External person

Jose Angel Cocho De Juan

  • Hospital Clínico Universitario
  • University of Santiago de Compostela
  • Hospital Clínico Universitario de Santiago

External person

Jasmin Torres

  • Florida Newborn Screening Program

External person

Björn U. Christ

  • University of Cape Town

External person

Maria L. Escolar

  • Children’s Hospital of Pittsburgh, University of Pittsburgh Medical Center
  • University of North Carolina at Chapel Hill
  • University of Pittsburgh
  • University of North Carolina at Chapel Hill
  • Program for the Study of Neurodevelopment in Rare Disorders
  • Division of Pediatric Endocrinology
  • Department of Pediatrics

External person

Archana N. Raja

  • Stanford University
  • Stanford

External person

Yannis Dotsikas

  • University of Athens School of Pharmacy
  • National and Kapodistrian University of Athens
  • University of Athens

External person

Detlef Knoll

  • Auckland Hospital
  • Auckland City Hospital
  • Auckland District Health Board

External person

Jenny M. Thies

  • University of Washington
  • Seattle Children's Hospital

External person

Michaela Veronika Gonfiantini

  • IRCCS Ospedale pediatrico Bambino Gesù - Roma

External person

Stephanie A. Bivona

  • University of Miami

External person

Michio Hirano

  • Columbia University
  • Center for Translational and Systems Neuroimmunology

External person

Eleanor L. Stanley

  • Michigan Department of Community Health

External person

Jeremy Hart

  • Kentucky Department for Public Health
  • Division of Laboratory Services
  • Department of Pathology & Laboratory Medicine
  • University of Kentucky

External person

Alida E.M. van Lint

  • University of Amsterdam

External person

Joanna Gonzalez

  • University of Miami

External person

Rong Mao

  • University of Utah
  • Associated Regional and University Pathologist Laboratories
  • Mayo Clinic Rochester, MN
  • Division of Laboratory Genetics
  • Department of Pathology
  • Molecular Genetics Section
  • Inst. for Clin. and Exp. Pathology
  • School of Medicine
  • Department of Pathology

External person

A. V. Drack

  • University of Iowa

External person

Ta Chen Peter Chang

  • University of Miami
  • MIAMI
  • MIAMI
  • MIAMI
  • MIAMI
  • AMERICAN ASSOCIATION FOR STDY LIVER DIS

External person

Amber Begtrup

  • GeneDX Inc
  • OPKO Health, Inc.

External person

Michela Cassanello

  • G. Gaslini Institute
  • IRCCS Istituto Giannina Gaslini - Genova
  • Department of Pediatrics
  • University of Genoa

External person

David R. Lynch

  • University of Pennsylvania School of Medicine
  • University of Pennsylvania
  • Division of Oncology
  • Department of Neurology
  • Department of Pharmacology
  • Department of Pharmacology
  • Department of Neurology
  • The Children's Hospital of Philadelphia

External person

Glenn E. Palomaki

  • Brown University
  • University of Miami
  • Foundation for Blood Research
  • McMaster University
  • Women and Infants Hospital of Rhode Island
  • Department of Pathology and Laboratory Medicine
  • Department of Pathology
  • Department of Pathology and Laboratory Medicine
  • Department of Pathology and Molecular Medicine
  • Alpert Medical School
  • Women and Infants Hospital of Rhode Island
  • The Warren Alpert Medical School of Brown University
  • Department of Pathology and Molecular Medicine
  • McMaster University
  • Jackson Health System

External person

Md Yunus

  • International Centre for Diarrhoeal Disease Research Bangladesh

External person

Petra M. Mooijer

  • University of Amsterdam

External person

John H. Newman

  • Vanderbilt University
  • Vanderbilt Clinic

External person

Frances High

  • Harvard University
  • Harvard
  • Harvard
  • Brigham and Women’s Hospital
  • Massachusetts General Hospital

External person

Timothy C. Wood

  • Greenwood Genetic Center
  • Greenwood Genetics Center
  • Metabolic Laboratory
  • Greenwood Genetics Center

External person

Christèle Dubourg

  • CNRS
  • CHU de Rennes
  • École nationale supérieure de chimie de Rennes
  • Institut de Génétique et Développement de Rennes

External person

William Hoffman

  • Washington State Department of Health

External person

Nancy N. Breen

  • Indiana Newborn Screening Laboratory

External person

Richard Person

  • Department of Molecular and Human Genetics
  • Baylor College of Medicine
  • Baylor Miraca Genetics Laboratories
  • Exome Laboratory
  • Baylor Miraca Genetics Laboratory
  • Whole Genome Laboratory
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Baylor Genetics
  • GeneDX Inc
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Baylor Genetics, LLC
  • Department of Molecular and Human Genetics
  • OPKO Health, Inc.

External person

Laura E. Schultz-Rogers

  • Mayo Clinic Rochester, MN
  • Department of Health Sciences and Research, Mayo Clinic
  • Center for Individualized Medicine, Mayo Clinic
  • Clinical Genomics
  • Department of Health Science
  • Mayo Clinic College of Medicine and Science
  • University of North Carolina at Chapel Hill
  • Iowa State University
  • Mayo Clinic College of Medicine and Science

External person

Xilma R. Ortiz-González

  • Graduate Program in Neuroscience
  • University of Minnesota Twin Cities
  • Department of Neurosurgery
  • Division of Oncology
  • University of Pennsylvania
  • Departments of Neurology
  • The Children's Hospital of Philadelphia

External person

Katie Golden-Grant

  • University of Washington
  • PNW Research Station

External person

S. E. Antonarakis

  • Centre Medical Universitaire
  • Cantonal Hospital
  • University of Geneva
  • Department of Genetics
  • Division of Medical Genetics
  • Department of Genetic Medicine and Development
  • Johns Hopkins University
  • Medigenome
  • Medigenome
  • Bern
  • Medigenome

External person

Marie Morimoto

  • Rare Disease Foundation
  • University of British Columbia
  • National Institutes of Health
  • Child and Family Research Institute, Canada

External person

Marina Macchiaiolo

  • IRCCS Ospedale pediatrico Bambino Gesù - Roma

External person

David E. Sesser

  • Oregon State Public Health Laboratory

External person

Mark A. Morrissey

  • New York State Department of Health
  • Wadsworth Center for Laboratories and Research
  • Division of Environmental Health Sciences

External person

Dana Kiley

  • Washington University St. Louis

External person

Laura A. Mamounas

  • National Institutes of Health

External person

Heather A. Colley

  • National Institutes of Health

External person

Mouseline Torquado Domingos

  • Fundação Ecumênica de Proteção Ao Excepcional

External person

Timothy Schedl

  • Washington University St. Louis
  • Vrije Universiteit Amsterdam
  • Duke University

External person

Saadet Mercimek-Mahmutoglu

  • Department of Pediatrics
  • University of Toronto
  • University of Alberta

External person

Samantha Dean

  • The University of Chicago
  • Department of Public Health Sciences

External person

Jennifer L. Murphy

  • Children's National Medical Center
  • National Institutes of Health

External person

Valerie V. Maduro

  • National Institutes of Health

External person

Giuseppe Giordano

  • Universita di Padova
  • Università di Padova
  • University of Padua
  • Clinical Genetics Unit

External person

Francesco Nicita

  • IRCCS Ospedale pediatrico Bambino Gesù - Roma

External person

Patricia M. Zerfas

  • Diagnostic and Research Services Branch
  • National Institutes of Health, Bethesda
  • National Institutes of Health

External person

Karen Chong

  • University of Toronto
  • Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital

External person

Mahera Abdulrahman

  • Dubai Heart Centre
  • Dubai Genetics Centre

External person

Vamsi K. Mootha

  • Harvard University
  • Broad Institute
  • Massachusetts General Hospital

External person

Roger Eaton

  • New England Newborn Screening Program

External person

S. Lane Rutledge

  • University of Alabama at Birmingham

External person

Xavier Blanc

  • Medigenome
  • Medigenome
  • Bern
  • Medigenome

External person

Laure Fresard

  • Stanford University
  • Stanford

External person

James Murray

  • Institute of Molecular Biology
  • University of Oregon
  • Department of Biology
  • Department of Molecular Biology

External person

Dawn Earl

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

External person

P. J. Benke

  • Memorial Regional Hospital
  • Florida Atlantic University
  • Joe DiMaggio Children’s Hospital

External person

Ehsan G. Karimiani

  • Next Generation Genetic Polyclinic
  • University of London
  • St. George's University of London
  • Islamic Azad University
  • Innovative Medical Research Center

External person

Eliane Roulet-Perez

  • University of Lausanne

External person

Catherine B. Nowak

  • Harvard University
  • Boston Children's Hospital

External person

Cynthia S. Gubbels

  • Broad Institute
  • Harvard University
  • Division of Genetics and Genomics
  • Boston Children's Hospital

External person

Marta Camilot

  • Azienda Ospedaliera Universitaria Integrata di Verona
  • Azienda Ospedaliera Universitaria Integrata di Verona
  • Ospedale Policlinico

External person

Yannis L. Loukas

  • University of Athens School of Pharmacy
  • National and Kapodistrian University of Athens
  • University of Athens

External person

Sandra K. Loo

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

External person

Donna M. Krasnewich

  • National Institutes of Health

External person

Daryl A. Scott

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

External person

Byron Lam

  • MIAMI
  • University of Miami
  • MIAMI
  • AMERICAN ASSOCIATION FOR STDY LIVER DIS
  • University of Massachusetts
  • Mayo Clinic Rochester, MN
  • Mayo Clinic College of Medicine and Science
  • College of Medicine
  • Metabolomics Core Laboratory
  • University of Arkansas for Medical Sciences
  • Division of Endocrinology
  • East Tennessee State University
  • University of Arkansas Little Rock
  • MIAMI
  • MIAMI
  • College of Medicine

External person

Dianne Webster

  • Auckland Hospital
  • Auckland City Hospital
  • Auckland District Health Board

External person

Karen Weck

  • University of North Carolina
  • University of North Carolina at Chapel Hill
  • University of North Carolina at Chapel Hill
  • Department of Genetics
  • Department of Pathology
  • Department of Pathology and Laboratory Medicine, University of North Carolina
  • Department of Pathology and Laboratory Medicine
  • Carolina Center for Genome Sciences
  • Departments of Genetics and Pathology and Laboratory Medicine
  • The Association for Molecular Pathology

External person

Laura Pace

  • University of Utah

External person

Maria Argos

  • Department of Health Studies, University of Chicago
  • The University of Chicago
  • Center for Cancer Epidemiology and Prevention
  • University of Illinois at Chicago
  • Department of Epidemiology and Biostatistics

External person

Naghmeh Dorrani

  • University of California at Los Angeles

External person

May Christine V. Malicdan

  • National Institutes of Health

External person

Sharon A. Willis

  • Oregon State Public Health Laboratory

External person

Jim Bonham

  • Sheffield Children's NHS Foundation Trust

External person

Avi Nath

  • National Institutes of Health

External person

Elisabetta Pasquini

  • Meyer Children's Hospital
  • Azienda Ospedaliero Universitaria Meyer

External person

F. Sessions Cole

  • Washington University School of Medicine
  • Washington University St. Louis
  • Department of Pediatrics
  • Division of Newborn Medicine

External person

Veronica Wiley

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

External person

Jason S. Eckerman

  • Mayo Clinic College of Medicine and Science
  • Biochemical Genetics Laboratory
  • Mayo Clinic Rochester, MN
  • Biochemical Genetics Laboratory
  • Mayo Clinic College of Medicine and Science

External person

Claudia Carducci

  • University of Rome La Sapienza

External person

Richard L. Maas

  • Harvard University
  • Harvard
  • Harvard
  • Brigham and Women’s Hospital

External person

Monika Weisz Hubshman

  • Baylor College of Medicine

External person

Margherita Ruoppolo

  • Università Degli Studi di Napoli Federico II, CEINGE-Biotecnologie Avanzate
  • Università Degli Studi di Napoli Federico II
  • University of Naples Federico II

External person

Laura Vilarinho

  • National Institute of Health Doutor Ricardo Jorge
  • National Health Institute Doutor Ricardo Jorge Porto
  • National Institute of Health Dr. Ricardo Jorge
  • Institute of Medical Genetics Jacinto de Magalhães

External person

Carlene Campbell

  • Missouri Public Health Laboratory
  • Missouri State Public Health Laboratory

External person

Eszter Karg

  • University of Szeged
  • University of Szeged
  • Department of Pediatrics

External person

Lé Shon Peart

  • University of Miami

External person

Judy Schaechter

  • University of Miami
  • MIAMI
  • MIAMI
  • MIAMI
  • MIAMI
  • AMERICAN ASSOCIATION FOR STDY LIVER DIS

External person

Joanna Crawford

  • University of Queensland
  • The University of Queensland
  • Institute for Molecular Bioscience

External person

Ayesha Ahmad

  • Children's Hospital of Michigan
  • University of Michigan, Ann Arbor
  • Department of Pediatrics

External person

Stephanie Wallace

  • University of Washington
  • PNW Research Station

External person

Italo Antonozzi

  • Sapienza University of Rome
  • University of Rome La Sapienza

External person

Jared Evans

  • Mayo College of Medicine
  • Mayo Clinic Rochester
  • Mayo Clinic College of Medicine and Science
  • Mayo Clinic Rochester, MN
  • Departments of Health Sciences Research and Biomedical Statistics and Informatics
  • Department of Health Science Research
  • Division of Biomedical Statistics and Informatics, Mayo Clinic
  • Department of Health Sciences and Research, Mayo Clinic
  • Department of Biomedical Statistics and Informatics, Mayo Clinic
  • Departments of Cardiovascular Medicine (Division of Heart Rhythm Services)
  • Dept. of Health Sciences Research
  • Department of Biomedical Statistics and Informatics, Mayo Clinic Rochester
  • Biomedical Informatics
  • Departments of Health Sciences Research and Biomedical Statistics and Informatics
  • Mayo Clinic College of Medicine and Science

External person

Melanie Downing

  • Sheffield Children's NHS Foundation Trust

External person

Hyung Doo Park

  • Sungkyunkwan University School of Medicine
  • Sungkyunkwan University

External person

Avni Santani

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

External person

Giancarlo La Marca

  • Azienda Ospedaliero Universitaria Meyer
  • Department of Pharmacology
  • University of Florence

External person

Mahfuzar Rahman

  • BRAC University
  • University of Chicago Research Bangladesh
  • Deakin University
  • La Trobe University
  • International Institute for Population Sciences
  • The University of Tokyo
  • International Institute for Population Sciences India

External person

Katrina Dipple

  • University of Washington
  • PNW Research Station
  • Brotman Baty Institute for Precision Medicine

External person

Marzia Pasquali

  • University of Utah
  • School of Medicine
  • Department of Pediatrics
  • Department of Pathology

External person

Jacob L. McCauley

  • University of Miami
  • Department of Biology
  • Miller School of Medicine
  • MIAMI
  • MIAMI
  • MIAMI
  • MIAMI
  • AMERICAN ASSOCIATION FOR STDY LIVER DIS

External person

Lydie Burglen

  • APHP
  • Sorbonne Université
  • Universite Pierre et Marie Curie
  • Hôpital Armand Trousseau
  • Assistance publique – Hôpitaux de Paris
  • Paris Descartes University, Sorbonne Paris Cité, Necker Medicine Faculty

External person

Mary V. Gamble

  • Columbia University
  • Department of Environmental Health Sciences, Columbia University Mailman School of Public Health

External person

Chirag Patel

  • Herston
  • Genetic Health Queensland
  • Royal Brisbane and Women's Hospital
  • Herston
  • Post Office Royal Brisbane Hospital

External person

Lauren Brady

  • McMaster University
  • McMaster University
  • Hamilton Health Sciences

External person

Julie McClure

  • University of North Carolina
  • University of North Carolina, Chapel Hill
  • University of North Carolina at Chapel Hill
  • Division of Genetics and Metabolism

External person

Barry Lewis

  • Princess Margaret Hospital for Children
  • Department of Clinical Biochemistry

External person

Reza Maroofian

  • Genetics Research Centre
  • University of London
  • University College London
  • St. George's University of London
  • National Hospital for Neurology and Neurosurgery

External person

Stacey Cohen

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

External person

Kathrine Bjorgo

  • University of Oslo

External person

Heleen te Brinke

  • University of Amsterdam

External person

Bonifacio Dy

  • Florida Newborn Screening Program

External person

Jeffrey Jarvik

  • University of Washington
  • Comparative Effectiveness Cost and Outcomes Research Center
  • PNW Research Station
  • United States Department of Health and Human Services
  • Tufts University
  • Oregon Health and Science University
  • Washington University St. Louis
  • Tufts Medical Center

External person

Kevin S. Smith

  • Stanford University
  • Stanford
  • Stanford Center for Undiagnosed Diseases

External person

Muhammad Rakibuz-Zaman

  • University of Chicago Research Bangladesh

External person

David D. Draper

  • National Institutes of Health

External person

Donna M. Brown

  • HudsonAlpha Institute of Biotechnology
  • HudsonAlpha Institute for Biotechnology

External person

Maanasa Indaram

  • University of California at San Francisco
  • Department of Ophthalmology

External person

Payam Mohassel

  • National Institutes of Health

External person

Margretta R. Seashore

  • Yale University
  • Department of Genetics
  • Department of Pediatrics and Genetics
  • Department of Pediatrics
  • Department of Genetics

External person

Joseph Loscalzo

  • University of California at Los Angeles
  • Harvard University
  • Brigham and Women's Hospital
  • Department of Molecular and Medical Pharmacology, University of California, Los Angeles (UCLA)
  • Department of Medicine
  • Harvard
  • Harvard
  • Brigham and Women’s Hospital

External person

Kathy Sisco

  • Washington University St. Louis

External person

Tiina Urv

  • National Institutes of Health, Bethesda
  • National Institute of Health
  • National Institutes of Health
  • National Center for Advancing Translational Sciences Program Office
  • National Center for Advancing Translational Sciences Program Office

External person

Omer Bar-Yosef

  • Tel Aviv University
  • Pediatric Neurology Unit
  • Sheba Medical Center at Tel Hashomer

External person

Heather Mefford

  • University of Washington
  • University of Sydney
  • University of Otago
  • PNW Research Station
  • St. Jude Children Research Hospital

External person

Roger Y. Tsien

  • Department of Pharmacology
  • Department of Chemistry and Biochemistry
  • University of California at San Diego
  • Dept. of Pharmacology

External person

Susan L. Sell

  • Pennsylvania State University

External person

E. Bertini

  • Fondazione Policlinico Universitario Agostino Gemelli IRCCS
  • IRCCS Ospedale pediatrico Bambino Gesù - Roma
  • Unit of Molecular Medicine
  • Laboratory of Molecular Medicine
  • Catholic University of the Sacred Heart

External person

David A. Sweetser

  • Departments of Medicine and Genetics
  • University of Washington
  • Fred Hutchinson Cancer Research Center
  • Palmetto Health-USC Medical Group
  • Parker Hughes Institute
  • University of Southern California
  • Harvard University
  • Division of Medical Genetics
  • Harvard
  • Harvard
  • CureSearch
  • CureSearch
  • Massachusetts General Hospital
  • Brigham and Women’s Hospital

External person

Monte Westerfield

  • University of Oregon
  • UO MOSC

External person

Jeremy D. Woods

  • University of California at Los Angeles

External person

Angela Sun

  • University of Washington
  • PNW Research Station

External person

Graem Preston

  • Hayward Genetics Center
  • Tulane University
  • Hayward Genetics Center
  • Mayo Clinic Rochester, MN
  • Clinical Genomics

External person

Suman Jayadev

  • University of Washington
  • PNW Research Station

External person

Seth Perlman

  • University of Iowa
  • University of Washington

External person

Ralph Sacco

  • University of Greifswald
  • University of Miami
  • University of California at Los Angeles
  • Columbia University
  • King's College London
  • Yeshiva University
  • MIAMI
  • MIAMI
  • LIFE Research Center of Civilization Diseases
  • NPHS II
  • MIAMI
  • MIAMI
  • AMERICAN ASSOCIATION FOR STDY LIVER DIS
  • American Heart Association
  • University of Florida
  • University of Newcastle
  • Montefiore Medical Center/Albert Einstein College of Medicine

External person

Kimberley Turner

  • University of Iowa

External person

Emmanuelle Ranza

  • Medigenome
  • Medigenome
  • Bern
  • Medigenome

External person

Alden Y. Huang

  • Department of Neurology, University of California
  • University of California at Los Angeles

External person

Catherine H. Sillari

  • National Institutes of Health

External person

Pranesh Chakraborty

  • Children's Hospital of Eastern Ontario
  • University of Ottawa
  • Centre hospitalier pour enfants de l'est de l'Ontario

External person

P. I. Dickson

  • LA Biomedical Research Institute at Harbor-UCLA
  • University of California at Los Angeles
  • Washington University St. Louis

External person

Shirley Sutton

  • Stanford University
  • Stanford
  • Stanford Center for Undiagnosed Diseases

External person

Joseph H. Graziano

  • Columbia University

External person

Ingrid A. Holm

  • Harvard University
  • Icahn School of Medicine at Mount Sinai
  • Manton Center for Orphan Disease Research
  • Center for Genetic Medicine
  • Northwestern University
  • Division of Genetics and Genomics
  • Division of Hematology/Oncology
  • Department of Pediatrics
  • Division of Genetics and Genomics and the Manton Center for Orphan Diseases Research
  • Division of Genetics and Genomics and The Manton Center for Orphan Disease Research
  • Harvard
  • Harvard
  • Boston Children's Hospital
  • Brigham and Women’s Hospital

External person

Roshini S. Abraham

  • Mayo Clinic College of Medicine
  • 0Mayo Clinic College of Medicine
  • Mayo Med. Sch., 200 First Street SW
  • Department of Laboratory Medicine and Pathology
  • Mayo Clinic College of Medicine and Science
  • Mayo Clinic Rochester, MN
  • Cellular and Molecular Immunology
  • Division of Hematology
  • University of Birmingham
  • Division of Clinical Biochemistry and Immunology
  • Division of Allergic Diseases
  • Department of Internal Medicine
  • Department of Internal Medicine
  • Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Division of Clinical Biochemistry and Immunology
  • Hematology Research Unit
  • Department of Medicine
  • Division of Hematology, Mayo Clinic
  • Experimental Medicine Section
  • National Institutes of Health
  • Division of Endocrinology, Diabetes, Metabolism, and Nutrition
  • Div. of Clin. Biochem./Immunology
  • Div. of Hematol. and Int. Medicine
  • Dept. of Lab. Medicine and Pathology
  • Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Department of Allergy and Immunology
  • Division of Hematology
  • Division of Hematology
  • Nationwide
  • Department of Pathology and Laboratory Medicine
  • Nationwide Children’s Hospital
  • Department of Immunology, Mayo Clinic
  • Department of Immunology
  • Division of Endocrinology, Mayo Clinic
  • Division of Hematology
  • Division of Clinical Biochemistry
  • Mayo Clinic College of Medicine and Science

External person

Kirsten A. Donald

  • Department of Paediatrics and Child Health
  • University of Cape Town

External person

Yong Hui Jiang

  • Duke Nashville
  • Yale University
  • Duke University

External person

Christine D. McKeever

  • Health Laboratory Services
  • Tennessee Department of Health
  • National Health Laboratories
  • Tennessee Department
  • Tennessee Department of Health

External person

Sharyn A. Lincoln

  • Harvard University
  • Harvard
  • Harvard
  • Brigham and Women’s Hospital
  • Boston Children's Hospital

External person

Petr Chrastina

  • General University Hospital in Prague
  • Charles University and General University Hospital
  • Charles University
  • Institute of Inherited Metabolic Disorders

External person

Teri A. Manolio

  • National Institutes of Health
  • NHGRI
  • National Cancer Institute United States
  • Division of Genomic Medicine
  • Medical University of South Carolina
  • Office of Population Genomics, National Human Genome Research Institute, National Institutes of Health
  • Mayo Clinic Rochester, MN
  • Division of Cardiology
  • Oregon Health and Science University
  • Harvard University
  • Department of Medical Genetics
  • Division of Cardiology
  • Johns Hopkins University
  • Lung
  • Columbia University
  • Office of Population Genomics
  • National Human Genomics Research Institute
  • NHGRI
  • External Evaluation Committee
  • Beth Israel Deaconess Medical Center

External person

Stephen C. Pak

  • Washington University St. Louis
  • Department of Pediatrics
  • Department of Pediatrics
  • University of Pittsburgh
  • Department of Pediatrics
  • Vrije Universiteit Amsterdam
  • Harvard University

External person

Erin Conboy

  • Mayo Clinic Rochester, MN
  • Clinical Genomics
  • Department of Medical Genetics
  • Center for Individualized Medicine, Mayo Clinic
  • Indiana University-Purdue University Indianapolis
  • Department of Pediatric and Adolescent Medicine
  • Biochemical Genetics Laboratory
  • Mayo Clinic Jacksonville, FL

External person

Susan Korrick

  • Harvard University
  • Harvard
  • Harvard
  • Brigham and Women’s Hospital

External person

Stanton L. Berberich

  • University of Iowa
  • State Hygienic Laboratory

External person

B. D. Anderson

  • Mayo Clinic College of Medicine
  • Mayo Clinic College of Medicine and Science
  • Mayo Clinic Rochester, MN
  • College of Medicine
  • Department of Laboratory Medicine and Pathology
  • Molecular Medicine Program
  • Department of Medical Genetics
  • Mayo Clinic College of Medicine and Science

External person

Guus Lachmeijer

  • Utrecht University

External person

J. Lawrence Merritt

  • University of Washington
  • PNW Research Station

External person

Pavel Pichurin

  • Medical Genetics, Mayo Clinic
  • Mayo Clinic Rochester, MN
  • Department of Medical Genetics
  • Division of Medical Genetics
  • Clinical Genomics
  • Center for Individualized Medicine, Mayo Clinic
  • University of California at Los Angeles
  • Cedars-Sinai Medical Center
  • Radboud University Nijmegen
  • Mayo Clinic College of Medicine and Science
  • Mayo Clinic College of Medicine and Science

External person

Jill A. Rosenfeld

  • Baylor College of Medicine
  • Baylor Genetics, LLC
  • BCM

External person

J. E. Abdenur

  • Division of Metabolic Disorders
  • Children's Hospital of Orange County
  • CHOC Children's
  • University of California at Irvine

External person

Issam Khneisser

  • Saint Joseph University

External person

Brandon L. Pierce

  • Department of Health Studies, University of Chicago
  • Center for Cancer Epidemiology and Prevention
  • The University of Chicago
  • Departments of Public Health Sciences and Human Genetics and Comprehensive Cancer Center
  • Fred Hutchinson Cancer Research Center
  • Public Health Sciences Division, Fred Hutchinson Cancer Research Center

External person

Stephanie D. Stoway

  • Mayo Clinic Rochester, MN
  • Biochemical Genetics Laboratory

External person

Raquel Yahyaoui

  • Carlos Haya University Hospital
  • Hospital Regional Universitario Carlos Haya

External person

Aida Lemes

  • Instituto de Seguridad Social

External person

Alexa T. McCray

  • Harvard University
  • Harvard
  • Harvard
  • Beth Israel Deaconess Medical Center

External person

Farzana Jasmine

  • Department of Health Studies, University of Chicago
  • The University of Chicago
  • Center for Cancer Epidemiology and Prevention
  • Department of Public Health Sciences

External person

Deborah Krakow

  • University of California at Los Angeles

External person

E. J. Atkinson

  • Mayo Clinic Rochester
  • Mayo Clinic Jacksonville, FL
  • Mayo Clinic College of Medicine
  • College of Medicine
  • Department of Health Sciences Research, Division of Biomedical Statistics and Informatics
  • Mayo Clin. Found., 200 First St., SW
  • Mayo Clin. Mayo Found., 200 First S.
  • College of Medicine, Mayo Clinic
  • 200 First Street SW
  • Department of Health Sciences Research
  • Southampton General Hospital
  • University of Vermont
  • Department of Health Sciences and Research, Mayo Clinic
  • University of British Columbia
  • Dept. of Health Sciences Research
  • Mayo Clinic College of Medicine and Science
  • Mayo Clinic Rochester, MN
  • East Tennessee State University
  • College of Medicine
  • Department of Health Sciences Research
  • Division of Biomedical Statistics and Informatics
  • Division of Biomedical Statistics and Informatics, Mayo Clinic
  • Division of Hematology
  • Department of Biomedical Statistics and Informatics, Mayo Clinic
  • Laboratory Medicine
  • Division of Biomedical Statistics and Informatics
  • Division of Cardiovascular Diseases
  • Division of Biostatistics
  • Division of Endocrinology, Metabolism, and Nutrition
  • Endocrine Research Unit
  • School of Medicine
  • College of Medicine
  • Division of Biostatistics
  • Division of Biostatistics
  • Divisions Endocrinol. Metab., H.
  • College of Medicine
  • Departments of Health Science Research
  • Endocrine Research Unit
  • Department of Biostatistics
  • Departments of Biostatistics
  • Division of Biostatistics
  • Division of Gastroenterology
  • University of Toronto
  • Liver Center
  • Department of Biostatistics
  • Division of Gastroenterology and Hepatology
  • Department of Neurology
  • Department of Health Sciences Research
  • Section of Clinical Epidemiology
  • Department of Health
  • Department of Health Sciences Research
  • Department of Internal Medicine
  • University Health Network
  • Division of Endocrinology and Metabolism
  • Division of Biostatistics
  • Division of Biostatistics
  • Division of Biostatistics, Mayo Clinic College of Medicine
  • Department of Biostatistics
  • Section of Biostatistics
  • Division of Health Sciences Research
  • Southampton General Hospital
  • Health Sciences Research and Biomedical Statistics and Informatics
  • Division of Rheumatology and Internal Medicine
  • HEALTH SERVICES
  • Biogen IDEC
  • Department of Biostatistics
  • Toronto Western Hospital University of Toronto
  • Jacksonville
  • HEALTH SERVICES
  • Department of Quantitative Health Sciences
  • Broad Institute
  • Mayo Clinic College of Medicine and Science
  • College of Medicine

External person

Fizza Gulamali-Majid

  • Department of Health and Mental Hygiene

External person

Tijen Tanyalcin

  • Tanyalcin Medical Lab Selective Newborn Screening
  • Metabolism Unit
  • Tanyalcin Medical Lab Selective Newborn Screening and Metabolism Unit

External person

Lilianna Solnica-Krezel

  • Washington University St. Louis
  • Université d'Angers
  • National Institutes of Health
  • Vrije Universiteit Amsterdam
  • Children's Mercy Hospitals and Clinics
  • University of Missouri at Kansas City
  • University of Kansas
  • Vanderbilt University

External person

Emily O’Heir

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

External person

Irene J. Chang

  • University of Washington
  • Seattle Children's Hospital

External person

Lisa A. Schimmenti

  • University of Minnesota Twin Cities
  • Mayo Clinic Rochester, MN
  • Clinical Genomics
  • Department of Pediatrics and Ophthalmology
  • Gene Therapy Program
  • Arnold and Mabel Beckman Center for Transposon Research
  • Department of Pediatrics
  • Department of Pediatrics, Genetics and Metabolism
  • Department of Ophthalmology
  • Pediatrics and Genetics
  • Department of Genetics
  • Developmental Biology Center
  • Department of Ophthalmology
  • Department of Ophthalmology
  • Department of Medicine Developmental Biology Center
  • Departments of Otorhinolaryngology-Head and Neck Surgery
  • Department of Biochemistry and Molecular Biology, Mayo Clinic
  • Department of Otorhinolaryngology, Mayo Clinic
  • Department of Otolaryngology-Head and Neck Surgery
  • Cancer Center
  • Mayo Clinic College of Medicine and Science
  • Departments of Clinical Genomics
  • Departments of Clinical Genomics
  • Mayo Clinic College of Medicine and Science

External person

Patrick Van Bogaert

  • Department of Pediatric Neurology and Neurosurgery
  • Université d'Angers

External person

Harley T. Kurata

  • University of Alberta

External person

Thomas A. Ravenscroft

  • Mayo Clinic Jacksonville, FL
  • Mayo Clinic Rochester, MN
  • Department of Neuroscience, Mayo Clinic
  • Department of Neuroscience
  • Baylor College of Medicine
  • Texas Children's Hospital Houston
  • Mayo Clinic College of Medicine and Science

External person

Bridget Wilcken

  • Children's Hospital at Westmead
  • University of Sydney
  • Department of Biochemical Genetics
  • Discipline of Pediatrics and Child Health
  • The Children's Hospital at Westmead

External person

Timothy W. Yu

  • Harvard University
  • Division of Genetics
  • Division of Genetics and Genomics
  • Boston Children's Hospital
  • Massachusetts General Hospital
  • Broad Institute

External person

Patrick V. Hopkins

  • Missouri Public Health Laboratory
  • Missouri State Public Health Laboratory

External person

Elizabeth Ulm

  • Cincinnati Children's Hospital Medical Center

External person

Cas Simons

  • University of Queensland
  • Murdoch Children's Research Institute
  • The University of Queensland
  • Institute for Molecular Bioscience

External person

Anne Sophie Denommé-Pichon

  • Université de Bourgogne
  • Université d'Angers
  • Université d'Angers
  • CHU Nantes
  • INSERM
  • Functional Unit for Diagnostic Innovation in Rare Diseases

External person

Jyoti G. Dayal

  • National Institutes of Health

External person

Isis Atallah

  • University of Lausanne

External person

Inderneel Sahai

  • New England Newborn Screening Program

External person

Jos P.N. Ruiter

  • University of Amsterdam

External person

Graham Sinclair

  • Children's and Women's Health Center
  • University of British Columbia

External person

Leifur Franzson

  • Landspitali-University of Iceland
  • University of Iceland
  • Department of Genetics and Molecular Medicine

External person

Sandrine Marie

  • Université catholique de Louvain
  • Laboratory of Physiological Chemistry

External person

Catherine A. Groden

  • National Institutes of Health

External person

Deborah A. Nickerson

  • Department of Public Health Sciences
  • University of Washington
  • Department of Genome Sciences
  • University of Virginia
  • Brotman Baty Institute for Precision Medicine
  • Northwest Genomics Center
  • PNW Research Station
  • University of Washington

External person

Colleen E. McCormack

  • Stanford University
  • Stanford

External person

Julie S. Cohen

  • Kennedy Krieger Institute
  • Johns Hopkins University

External person

Vincent J. Lynch

  • Department of Human Genetics
  • The University of Chicago

External person

Tim Davis

  • Washington State Department of Health

External person

Lin Tong

  • Department of Health Studies, University of Chicago
  • The University of Chicago
  • Center for Cancer Epidemiology and Prevention
  • Department of Public Health Sciences

External person

Lisa Bastarache

  • Vanderbilt University
  • Vanderbilt University Medical Center
  • Department of Biomedical Informatics
  • VA Medical Center
  • Department of Biomedical Informatics
  • Department of Medicine
  • Department of Biomedical Informatics, Vanderbilt University
  • Departments of Biomedical Informatics
  • Department of Biomedical Informatics

External person

Laurie Robak

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

External person

Siddharth Srivastava

  • Harvard University
  • Department of Neurology
  • Boston Children's Hospital

External person

Mary A. Seeterlin

  • Michigan Department of Community Health

External person

Sébastien Küry

  • CHU de Nantes
  • Service de Génétique Médicale, Pôle de Biologie
  • Service de Génétique Médiczle
  • Department of Public Health Sciences
  • University of Virginia
  • Kyushu University
  • Department of Preventive Medicine
  • Service de Génétique Médicale, CHU Nantes
  • Nantes Université
  • Service de Génétique Médicale
  • Cancer Council Victoria
  • Inserm UMR 915 l'Institut du Thorax IRT
  • CHU Nantes
  • Institut national de la santé et de la recherche médicale

External person

Mark McCann

  • Minnesota Department of Health

External person

E. C. Smith

  • Duke University
  • Department of Neurology
  • Duke Hospital
  • Duke

External person

Mia Pras-Raves

  • Amsterdam UMC
  • University of Amsterdam
  • Amsterdam UMC
  • Amsterdam UMC
  • Biostatistics and Bioinformatics
  • Amsterdam UMC

External person

Alexandra Afenjar

  • Unité de Gènètique Clinique
  • Assistance publique – Hôpitaux de Paris
  • Sorbonne Université
  • APHP
  • Centre de Référence Déficiences Intellectuelles de Causes Rares
  • Hôpital Armand Trousseau
  • Sorbonne Université
  • Universite Pierre et Marie Curie

External person

Eric C. Deutsch

  • Division of Oncology
  • University of Pennsylvania
  • Department of Neurology
  • Department of Pharmacology
  • Department of Pharmacology
  • The Children's Hospital of Philadelphia

External person

Cuixia Tian

  • University of Cincinnati

External person

Elisabeth McGee

  • University of California at Los Angeles

External person

Fuki M. Hisama

  • University of Washington
  • Department of Neurology
  • Division of Medical Genetics
  • PNW Research Station
  • Brotman Baty Institute for Precision Medicine

External person

Karen A. Kramer

  • Mayo Clinic College of Medicine
  • Mayo Clinic College of Medicine and Science
  • Department of Laboratory Medicine and Pathology
  • Mayo Clinic College of Medicine and Science

External person

Sandra Donkervoort

  • National Institutes of Health

External person

Chiara Kloeckner

  • Leipzig University

External person

Kristen Liedtke

  • Mayo Clinic Rochester, MN

External person

Yin Hsiu Chien

  • National Taiwan University

External person

Sacha Ferdinandusse

  • University of Amsterdam

External person

Erin Torti

  • GeneDX Inc
  • OPKO Health, Inc.

External person

Genecee Renteria

  • University of California at Los Angeles

External person

Rosario Torres

  • Universidad Autó noma de Nuevo Leó n
  • Universidad Autonoma de Nuevo Leon

External person

Miao He

  • University of Pittsburgh School of Medicine
  • Children's Hospital of Pittsburgh
  • Emory University
  • University of Pittsburgh
  • Mayo Clinic Rochester, MN
  • Palmieri Metabolic Disease Laboratory
  • University of Pennsylvania
  • Department of Medical Genetics
  • Perelman School of Medicine
  • Department of Pathology and Laboratory Medicine
  • Departments of Pediatrics
  • Department of Human Genetics
  • Department of Pediatrics
  • Division of Laboratory Medicine
  • Mayo Clinic College of Medicine and Science
  • The Children's Hospital of Philadelphia
  • Mayo Clinic College of Medicine and Science

External person

Anne Slavotinek

  • University of California at San Francisco
  • Department of Pediatrics

External person

Tina M. Cowan

  • Stanford University
  • Department of Pathology

External person

Nicola Longo

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

External person

Ping Yee Billie Au

  • University of Calgary

External person

Paul G. Fisher

  • Stanford University
  • Stanford
  • Stanford Center for Undiagnosed Diseases

External person

Mays El-Dairi

  • Department of Ophthalmology
  • Duke University

External person

Barbara N. Pusey

  • National Institutes of Health

External person

Dianne M. Frazier

  • University of North Carolina
  • University of North Carolina, Chapel Hill
  • University of North Carolina at Chapel Hill
  • Division of Genetics and Metabolism

External person

Judy Williams

  • Bundaberg Hospital
  • Queensland Health

External person

David Cheillan

  • Hospices Civils de Lyon
  • Hospital Debrousse
  • Hospices civils de Lyon
  • Hôpital Debrousse
  • Hôpital Femme Mère Enfant
  • Centre de Référence des Maladies Héréditaires du Métabolisme
  • Centre Léon Bérard

External person

Habibul Ahsan

  • Department of Comprehensive Cancer Center, University of Chicago
  • The University of Chicago
  • Roswell Park Cancer Institute
  • Department of Human Genetics
  • Department of Public Health Sciences
  • Department of Health Studies, University of Chicago
  • Center for Cancer Epidemiology and Prevention
  • Department of Medicine, University of Chicago
  • Department of Cancer Prevention and Control
  • Comprehensive Cancer Center
  • Institute for Population and Precision Health
  • Section of Gastroenterology
  • Cancer Prevention Institute of California
  • Fred Hutchinson Cancer Research Center
  • Public Health Sciences Division, Fred Hutchinson Cancer Research Center
  • Department of Medicine

External person

Hugo Rocha

  • National Institute of Health Doutor Ricardo Jorge
  • National Health Institute Doutor Ricardo Jorge Porto
  • National Institute of Health Dr. Ricardo Jorge

External person

Charles Kroll

  • Mayo Clinic College of Medicine
  • Mayo Clinic College of Medicine and Science
  • Mayo Clinic Rochester, MN
  • Biochemical Genetics Laboratory
  • Mayo Clinic College of Medicine and Science

External person

Colleen E. Wahl

  • National Institutes of Health

External person

Cecilia Queijo

  • Instituto de Seguridad Social

External person

Matthew T. Wheeler

  • Stanford University
  • Stanford
  • Stanford Center for Undiagnosed Diseases

External person

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