Carolyn Applegate

Assistant Professor, Genetics Counselor

20122024

Research activity per year

Network

Vidya Sagar Hanumanthu

  • Johns Hopkins University
  • University of Pittsburgh
  • Department of Oncology
  • Department of Oncology
  • McGowan Institute for Regenerative Medicine
  • Department of Oncology
  • Department of Oncology and Telomere Center
  • Department of Oncology

External person

Lindsay B. Henderson

  • Johns Hopkins University
  • GeneDx
  • School of Medicine
  • Department of Medicine
  • McKusick-Nathans Institute of Genetic Medicine
  • McKusick-Nathans Institute of Genetic Medicine
  • McKusick-Nathans Institute of Genetic Medicine
  • Johns Hopkins Oncology Centre
  • GeneDX Inc
  • OPKO Health, Inc.

External person

Esther Meyer

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

External person

Casie A. Genetti

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

External person

Berivan Baskin

  • GeneDx
  • Division of Haematology/Oncology
  • University of Toronto
  • Uppsala University
  • Department of Immunology
  • GeneDX Inc
  • OPKO Health, Inc.

External person

Dmitriy Niyazov

  • Ochsner Health System
  • Ochsner Health System
  • Department of Pediatrics
  • Louisiana State University Health Sciences Center

External person

Pankaj B. Agrawal

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

External person

Meron Azage

  • Ochsner Health System
  • Louisiana State University Health Sciences Center
  • Ochsner Health System

External person

Dustin L. Gable

  • Johns Hopkins University
  • School of Medicine
  • Department of Oncology
  • Department of Oncology
  • McKusick-Nathans Institute of Genetic Medicine
  • Medical Scientist Training Program
  • Department of Oncology
  • Predoctoral Training Program in Human Genetics
  • Department of Oncology
  • Harvard University
  • Boston Children's Hospital

External person

Susan E. Stanley

  • Johns Hopkins University
  • Department of Oncology
  • Department of Oncology
  • Medical Scientist Training Program
  • School of Medicine
  • Department of Oncology
  • McKusick-Nathans Institute of Genetic Medicine
  • McKusick-Nathans Institute of Genetic Medicine
  • Harvard University
  • Harvard Medical School
  • Johns Hopkins Oncology Centre
  • Massachusetts General Hospital

External person

Christa L. Wagner

  • Johns Hopkins University
  • Department of Oncology
  • Department of Oncology and Sidney Kimmel Comprehensive Cancer Center
  • Department of Oncology
  • McKusick-Nathans Institute of Genetic Medicine
  • Department of Oncology
  • Department of Oncology
  • Department of Oncology

External person

Gaetan Lesca

  • Université de Lyon
  • Universite Claude Bernard Lyon 1
  • Institut national de la santé et de la recherche médicale
  • Department of Genetics
  • Reference Center for Developmental Anomalies
  • Université de Lyon
  • Hospices civils de Lyon
  • ONCOFLAM - Neuro-Oncologie et Neuro-Inflammation Centre de Recherche en Neurosciences de Lyon
  • Lyon University Hospital
  • Pathologies de la Myéline et Neuro-inflammation

External person

Alan H. Beggs

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

External person

Brooks Jackson

  • Johns Hopkins University
  • University of Minnesota Twin Cities
  • Department of Medicine
  • Icahn School of Medicine at Mount Sinai
  • Department of Pathology
  • Infectious Disease Institute
  • Department of Pathology
  • Makerere University
  • Center for Infection and Inflammation Imaging Research
  • Departments of Pathology, Gynecology and Obstetrics and Oncology
  • Division of InfectiousDiseases
  • Department of Pathology
  • Center for Biomarker Discovery
  • Depts. of Pathology and Medicine
  • Department of Pathology
  • Department of Pathology
  • The Johns Flopkins University School of Medicine
  • Department of Pathology
  • Department of Obstetrics and Gynecology
  • Department of Oncology
  • Department of International Health
  • Department of Ophthalmology
  • Department of Pathology
  • School of Medicine
  • Department of Pathology
  • Laboratory Medicine and Pathology
  • Public Citizen Health Research Group
  • Urumqi City Blood Center
  • Luoyang Blood Center
  • Westat
  • Chinese Academy of Medical Sciences
  • Guangxi Blood Center
  • National Institutes of Health
  • Institute of Blood Transfusion
  • Mianyang Blood Center
  • Yunnan Kunming Blood Center
  • Department of Ophthalmology, 825 Maumence Bldg.
  • Carnegie Building
  • Department of Pathology
  • University of California at Los Angeles
  • UCLA
  • McKusick-Nathans Institute of Genetic Medicine
  • Department Pathology
  • School of Medicine
  • Clinical Core Laboratory
  • University of Toronto
  • Department of Pathology
  • Department of Infectious Disease
  • Institute of Blood Transfusion,Chinese Academy of Medical Sciences& Peking Union Medical College
  • University of Iowa
  • Department of Pathology
  • Public Citizen's Health Research Group
  • National Offices
  • Fairview Health Service
  • Vitalant
  • BloodCenter of Wisconsin
  • Hologic, Inc.
  • Novartis
  • Independent Blood Centers
  • Florida Blood Services
  • Holland Laboratory for Biomedical Sciences

External person

Megan T. Cho

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

External person

Adeline Ngoh

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

External person

Elizabeth Wohler

  • Kennedy Krieger Institute
  • Johns Hopkins University
  • Hugo Moser Institute at Kenney Krieger
  • McKusick-Nathans Institute of Genetic Medicine
  • Cytogenetics Laboratory
  • Department of Genetics
  • Department of Cytogenetics
  • Department of Pathology
  • Department of Genetics
  • Institute of Genetic Medicine
  • Baylor-Hopkins Center for Mendelian Genomics

External person

Ingrid M. Wentzensen

  • Johns Hopkins University
  • National Institutes of Health
  • GeneDx
  • GeneDX Inc
  • Division of Cancer Epidemiology and Genetics
  • OPKO Health, Inc.

External person

Fleur Vansenne

  • University of Groningen

External person

Mary D. King

  • University College Dublin
  • Children’s Health Ireland

External person

Hong Li

  • Emory University

External person

Boris Fichtman

  • The Azrieli Faculty of Medicine
  • Bar-Ilan University

External person

Kathleen M. Gorman

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

External person

Joanna Amberger

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

External person

Sony Malhotra

  • Birkbeck University of London

External person

Christopher Gray

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

External person

Fadia Zagairy

  • The Azrieli Faculty of Medicine
  • Bar-Ilan University

External person

Joseph T C Shieh

  • University of California at San Francisco
  • Department of Pediatrics
  • Gladstone Inst. of Cardiovasc. Dis.
  • Division of Medical Genetics
  • Gladstone Institutes
  • UCSF Institute of Human Genetics

External person

Rupert W. Strauss

  • Klinik Hietzing
  • Johns Hopkins University
  • Medical University of Graz
  • National Health Service
  • Johannes Kepler University Linz
  • University of Basel
  • Cha.'s Office
  • Moorfields Eye Hospital NHS Foundation Trust
  • University College London
  • Department of Ophthalmology
  • Department of Ophthalmology
  • Department of Ophthalmology
  • Department of Ophthalmology
  • Cha.'s Office
  • Departments of Ophthalmology and Neuroscience
  • Department of Ophthalmology
  • Wilmer Ophthalmological Institute
  • Department of Neuroscience
  • Department of Ophthalmology
  • Department of Neuroscience
  • Dana Center Data Coordinating Center
  • Cleveland Clinic Foundation
  • H.P.N.S.)
  • Institute of Molecular and Clinical Ophthalmology Basel
  • Moorfields Eye Hospital NHS Foundation Trust

External person

Thomas M. Carlile

  • Massachusetts Institute of Technology
  • Howard Hughes Medical Institute

External person

Michelle Sahagian

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

External person

Raghda Zaitoun

  • Ain Shams University

External person

Maria J.Guillen Sacoto

  • GeneDx
  • GeneDX Inc
  • OPKO Health, Inc.

External person

Vikram L. Jaswaney

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

External person

E. D. Brewer

  • Baylor College of Medicine
  • Department of Pediatrics
  • Department of Pediatric Nephrology
  • Texas Children's Hospital
  • Texas Children's Hospital Houston

External person

Jane Juusola

  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDX
  • GeneDx
  • GeneDx
  • GeneDx
  • Whole Exome Sequencing Program
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDX
  • GeneDx
  • GeneDX
  • GeneDx
  • GeneDX
  • GeneDx
  • GeneDX
  • GeneDx
  • GeneDX
  • GeneDx
  • GeneDX
  • GeneDx
  • GeneDX
  • GeneDx
  • GeneDX
  • GeneDx
  • GeneDX
  • GeneDx
  • GeneDX
  • GeneDx
  • GeneDX
  • GeneDx
  • GeneDX
  • GeneDx
  • GeneDX
  • GeneDx
  • GeneDX
  • GeneDx
  • GeneDX
  • GeneDx
  • GeneDX
  • GeneDx
  • GeneDX
  • GeneDx
  • GeneDX
  • GeneDx
  • GeneDX
  • GeneDx
  • GeneDX
  • GeneDx
  • GeneDX
  • GeneDx
  • GeneDX
  • GeneDx
  • GeneDX
  • GeneDx
  • GeneDX
  • GeneDx
  • GeneDX
  • GeneDx
  • GeneDX
  • GeneDx
  • GeneDX
  • GeneDx
  • GeneDX Inc
  • Columbia University
  • OPKO Health, Inc.

External person

Avraham Shaag

  • Hebrew University of Jerusalem
  • Hadassah University Medical Centre
  • Monique and Jacques Roboh Department of Genetic Research
  • Monique and Jacques Roboh Department of Genetic Research
  • Department of Hematology

External person

M. A. Strong

  • Johns Hopkins University
  • Department of Molecular Biology
  • Department of Molecular Biology and Genetics
  • Dept. of Molec. Biology and Genetics
  • Howard Hughes Medical Institute
  • Departments of Neurology and Molecular Biology and Genetics
  • Department of Molecular Biology and Genetics
  • Department of Molecular Biology and Genetics
  • Department of Molecular Biology

External person

Lauren Brady

  • McMaster University
  • Department of Pediatrics
  • McMaster University
  • Hamilton Health Sciences

External person

William J. Craigen

  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • Division of Neuroscience
  • Dept. of Molecular and Human Genetics
  • Division of Neuroscience
  • Texas Children's Hospital Houston
  • National Institutes of Health, Bethesda

External person

Amy Harper

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

External person

Clifton L. Dalgard

  • Uniformed Services University of the Health Sciences
  • Uniformed Services University of the Health Sciences
  • The American Genome Center
  • Henry M. Jackson Foundation

External person

Kyle Retterer

  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx Gaithersburg
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDx
  • GeneDX Inc
  • Columbia University
  • OPKO Health, Inc.

External person

Kishore R. Kumar

  • Garvan Institute of Medical Research
  • Kolling Institute of Medical Research
  • Concord Repatriation General Hospital
  • RFC1 Repeat Expansion Study Group

External person

Jonathan A. Kropski

  • Division of Allergy
  • Vanderbilt University

External person

Genay O. Pilarowski

  • Predoctoral Program in Human Genetics
  • McKusick-Nathans Institute of Genetic Medicine
  • Johns Hopkins University
  • Stanford University

External person

Caleb P. Bupp

  • Spectrum Health

External person

Michael C. Braun

  • University of Texas Health Science Center at Houston
  • Baylor College of Medicine
  • Brown Foundation Institute of Molecular Medicine
  • Renal Section
  • Texas Children's Hospital Houston

External person

Michel Tchan

  • University of Sydney
  • Westmead Hospital

External person

Shekeeb S. Mohammad

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

External person

Deborah Stone

  • National Institutes of Health
  • Laboratory of Genetic Disease Research

External person

Richard A. Lewis

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

External person

David W. Mohr

  • Johns Hopkins University

External person

Julia Rankin

  • Royal Devon & Exeter NHS Foundation Trust

External person

Gregory D. Bowman

  • Johns Hopkins University
  • Department of Biophysics

External person

Martin J. Larsen

  • University of Southern Denmark

External person

Susan M. Hiatt

  • HudsonAlpha Institute for Biotechnology

External person

Margot R F Reijnders

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

External person

Monica H. Wojcik

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

External person

Lance Rodan

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

External person

Luis Rohena

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

External person

Hiba Risheg

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

External person

R. C. Dale

  • University of Sydney
  • Institute for Neuroscience and Muscle Research
  • Neuroimmunology Group
  • The Children's Hospital at Westmead
  • Kids Neuroscience Centre
  • Great Ormond Street Hospital for Children NHS Foundation Trust

External person

Victoria Suslovitch

  • Harvard University
  • Boston Children's Hospital

External person

Jennifer R. Friedman

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

External person

Vincent d’Hardemare

  • Hopital de la Fondation Rothschild

External person

Neil Mahant

  • Westmead Hospital

External person

Mei Jan Chen

  • University of Alabama at Birmingham

External person

Conor Fearon

  • University of Toronto
  • University College Dublin
  • Toronto Western Hospital University of Toronto

External person

William E. Dobyns

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

External person

Julian A. Martínez-Agosto

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

External person

Suh Young Jeong

  • Oregon Health and Science University

External person

Ralitza Gavrilova

  • Mayo Clinic Rochester, MN
  • Department of Neurology
  • Department of Clinical Genomics
  • Mayo Clinic Jacksonville, FL

External person

Maria F. Rojas-Duran

  • Massachusetts Institute of Technology
  • Howard Hughes Medical Institute

External person

Paul Kruszka

  • National Institutes of Health
  • Department of Medical Genetics
  • Medical Genetics Branch
  • OPKO Health, Inc.

External person

Neil A. Hanchard

  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • Department of Pediatrics
  • Texas Children's Hospital Houston
  • United States Department of Agriculture
  • National Institutes of Health
  • National Institutes of Health, Bethesda

External person

Antonio Novelli

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

External person

Meredith W. Allain

  • Stanford University

External person

Swasti Pal

  • Sir Ganga Ram Hospital

External person

Chad A. Newton

  • University of Texas Southwestern Medical Center

External person

Gaetan Poulen

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

External person

Sara E. Khalil

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

External person

Nih Intramural Sequencing Center

  • National Institutes of Health

External person

Julien Baleine

  • CHU Montpellier

External person

R. Abou Jamra

  • University of Bonn
  • Friedrich-Alexander University Erlangen-Nürnberg
  • Leipzig University

External person

Orrin Devinsky

  • New York University
  • National Institutes of Health
  • Department of Neurology
  • Depts. of Neurology and Neurosurgery
  • Departments OfNeurology, Pathology, and Psychiatry
  • Department of Neurology
  • Comprehensive Epilepsy Center
  • Mayo Clinic Rochester, MN
  • Institute of Neurology and Neurosurgery at St. Barnabas
  • University of Colorado Denver

External person

Victoria Gonzalez

  • Universite de Montpellier
  • Hôpital Gui de Chauliac
  • CHU Montpellier
  • Institut de Genomique Fonctionnelle

External person

Oskar Schnappauf

  • National Institutes of Health

External person

Jill R. Murrel

  • Indiana University-Purdue University Indianapolis
  • Indiana University Bloomington
  • Department of Pathology and Laboratory Medicine
  • Department of Medical and Molecular Genetics
  • Department of Medical and Molecular Genetics
  • Department of Pathology and Laboratory Medicine
  • Department of Cellular and Integrative Physiology
  • Dept. of Pathol. and Lab. Medicine
  • Indiana Alzheimer Disease Center
  • University of Pennsylvania
  • The Children's Hospital of Philadelphia

External person

Rachel D. Burnside

  • Laboratory Corporation of America
  • Department of Cytogenetics
  • Laboratory Corporation of America

External person

Tal Gilboa

  • Pediatric Neurology Unit
  • Hadassah University Medical Centre

External person

Marta Biderman Waberski

  • National Institutes of Health

External person

Holly K. Harris

  • Harvard University
  • Baylor College of Medicine
  • Texas Children's Hospital Houston
  • Boston Children's Hospital

External person

Wendy V. Gilbert

  • Massachusetts Institute of Technology
  • Howard Hughes Medical Institute

External person

Caroline M. Kolvenbach

  • Harvard University
  • University of Bonn

External person

C. Ferec

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

External person

Xavier Vasques

  • European IBM Systems Center

External person

Kevin Uguen

  • Université de Bretagne Occidentale
  • CHU de Brest

External person

Ivona Aksentijevich

  • National Institutes of Health

External person

Lilian L. Cohen

  • Cornell University

External person

Koen L.I.van Gassen

  • Utrecht University

External person

Jessica Duis

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

External person

Janice Baker

  • Children’s Hospital in Minnesota
  • Genomic Medicine

External person

Marisela E. Dy-Hollins

  • Harvard University
  • Massachusetts General Hospital

External person

Cynthia S. Gubbels

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

External person

P. J. Benke

  • Johns Hopkins University
  • Florida Atlantic School of Medicine
  • Memorial Regional Hospital
  • Department of Neurology and Pediatrics
  • University of Pennsylvania
  • University of Miami
  • Joe DiMaggio Children’s Hospital
  • The Children's Hospital of Philadelphia

External person

Tracy Dudding-Byth

  • Hunter Genetics

External person

Harutomo Hasegawa

  • Evelina London Children's Hospital
  • King's College London
  • King's Health Partners

External person

Susan J. Hayflick

  • Johns Hopkins University
  • Oregon Health and Science University
  • Royal Victoria Hospital Barrie
  • Department of Pathology
  • Department of Pediatrics
  • Division of Medical Genetics
  • Departments of Pediatrics and Molecular and Medical Genetics
  • Departments of Pediatrics and Neurology
  • Division of Pediatric Cardiology
  • Center for Medical Genetics
  • Laboratory of Genetics
  • McGill University
  • Genetics Laboratory
  • Kennedy Krieger Institute
  • Division of Neonatology
  • Division of Pediatric Cardiology

External person

Xiadong Wang

  • Ciphergene
  • Ciphergene

External person

Leandros Boukas

  • Predoctoral Program in Human Genetics
  • McKusick-Nathans Institute of Genetic Medicine
  • Johns Hopkins University
  • School of Medicine
  • Predoctoral Training Program in Human Genetics
  • McKusick-Nathans Institute of Genetic Medicine
  • Department of Biostatistics
  • Department of Biostatistics
  • Johns Hopkins Oncology Centre
  • Children's National Medical Center

External person

Karin Weiss

  • National Institutes of Health
  • Department of Medical Genetics
  • Medical Genetics Branch
  • Rambam Health Care Campus
  • Technion-Israel Institute of Technology

External person

Andrea K. Petersen

  • Baylor College of Medicine
  • Randall Children's Hospital
  • Legacy Clinical Research and Technology Center

External person

Nicolette K. Janzen

  • Baylor College of Medicine
  • Scott Department of Urology
  • Yale University
  • Texas Children's Hospital Houston
  • Yale New Haven Health System

External person

Katy E.S. Barwick

  • RILD Wellcome Wolfson Centre
  • Royal Devon & Exeter NHS Foundation Trust
  • University College London

External person

Christophe Milesi

  • CHU Montpellier

External person

Sanaz Attaripour Isfahani

  • National Institutes of Health

External person

Bettina Balint

  • Heidelberg University 
  • University College London
  • University of Zurich

External person

Amy Dameron

  • GeneDx
  • GeneDX Inc
  • OPKO Health, Inc.

External person

Tomasz Gambin

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

External person

Rebecca Signer

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

External person

Volkan Okur

  • Columbia University
  • Department of Pediatrics

External person

Fabienne Cyprien

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

External person

Giuseppe Punzi

  • Laboratory of Biochemistry
  • University of Bari

External person

Inder K. Gadi

  • Laboratory Corporation of America
  • Department of Cytogenetics
  • Laboratory Corporation of America

External person

Yaping Yang

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

External person

Ina Schanze

  • Otto von Guericke University Magdeburg
  • Institute of Human Genetics
  • Institute of Human Genetics

External person

John A. Chiorini

  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • Gene Therapy and Therapeutics Branch
  • Molecular Physiology and Therapeutics Branch

External person

Richard A. Gibbs

  • University of British Columbia
  • Baylor College of Medicine
  • National Cancer Institute United States
  • Department of Epidemiology
  • Broad Institute
  • Greater Baltimore Medical Center
  • Texas Children s Feigin Center
  • Human Genome Sequencing Center
  • Human Genome Sequencing Center
  • Department of Epidemiology
  • Canada's Michael Smith Genome Sciences Centre
  • Department of Molecular and Human Genetics
  • Human Genome Sequencing Center
  • Department of Molecular and Human Genetics
  • Division of Abdominal Transplantation
  • Cancer Genome Atlas Program Office
  • National Institutes of Health
  • Department of Human Genetics
  • Texas Cancer Research Biobank (TCRB)
  • Milton J Dance Head and Neck Center
  • Dept. of Molec. and Human Genetics
  • Departments of Molecular and Human Genetics
  • Department of Epidemiology
  • Greater Baltimore Medical Center
  • Massachusetts Institute of Technology
  • Provincial Health Services Authority
  • Membership of the SPARK Consortium Members is Provided in the Acknowledgements
  • University of Pennsylvania
  • Mayo Clinic Rochester, MN
  • Baylor University
  • Ontario Institute for Cancer Research

External person

Suha Bachir

  • Imperial College London
  • Department of Medicine
  • Johns Hopkins University

External person

Maya Topf

  • Birkbeck University of London

External person

Sidney Krystal

  • Hopital de la Fondation Rothschild

External person

Dolores Lamb

  • Baylor College of Medicine
  • American Society for Reproductive Medicine
  • Department of Molecular and Cellular Biology
  • Scott Department of Urology
  • Center for Reproductive Medicine
  • Department of Cell Biology
  • Department of Urology
  • Cornell University
  • American Society for Reproductive Medicine
  • Assisted Reproductive Tech. Society
  • Department of Cell Biology
  • New York Presbyterian Hospital

External person

Anne Blomhoff

  • University of Oslo

External person

Venketaswara R. Potluri

  • Laboratory Corporation of America
  • Laboratory Corporation of America

External person

Sylvia Redon

  • Université de Bretagne Occidentale
  • CHU de Brest
  • Laboratoire de Biologie Médicale Multi-Sites SeqOIA

External person

Caleb Rogers

  • Oregon Health and Science University

External person

James D. Dollar

  • Carolinas Pathology Group

External person

Tamar Harel

  • Hadassah University Medical Centre
  • Monique and Jacques Roboh Department of Genetic Research
  • Department of Molecular and Human Genetics
  • Baylor College of Medicine

External person

Wendy K. Chung

  • Columbia University
  • University of Alabama
  • Rockefeller University
  • The Pediatric Neuromuscular Clinical Research Network
  • Department of Pediatrics
  • Lab. of Hum. Behavior and Metabolism
  • Department of Medicine
  • Department of Medicine
  • Department of Pediatrics and Medicine
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Genetics
  • Department of Pediatrics
  • Departments of Pediatrics and Medicine
  • Spinal Muscular Atrophy Foundation
  • City of Hope National Med Center
  • Division of Cancer Etiology
  • Department of Veterans Affairs
  • Simons Foundation

External person

Sandra Chantot Bastaraud

  • Neurochirurgie Pédiatrique
  • Hopital de la Fondation Rothschild

External person

Serena Galosi

  • University of Rome La Sapienza

External person

Angela Myers

  • Sanford Children's Hospital

External person

Timothy Lynch

  • University College Dublin
  • Conway Institute of Biomolecular and Biomedical Research
  • Dublin Neurological Institute

External person

Crystal Tichnell

  • Division of Cardiology
  • Johns Hopkins University
  • Division of CardiologyJohns Hopkins HospitalBaltimore Maryland
  • Division of Cardiology
  • Department of Medicine (Cardiology)
  • Department of Medicine, Division of Cardiology, Johns Hopkins Hospital
  • McKusick-Nathans Institute of Genetic Medicine
  • Division of Hematology
  • Department of Medicine/Cardiology
  • Department of Medicine
  • Division of Cardiology
  • Department of Medicine
  • Division of Cardiology
  • Department of Cardiology
  • Department of Cardiology
  • Division of Infectious Diseases
  • Division of Cardiology
  • Division of Infectious Diseases, Department of Medicine
  • Section of Cardiac Electrophysiology
  • School of Medicine
  • Division of Cardiology
  • Department of Radiology
  • Division of Cardiology
  • Department of Medicine
  • Division of Cardiology
  • Department of Cardiology
  • The Russell H. Morgan Department of Radiology and Radiological Science
  • Department of Cardiology
  • Division of Cardiac Electrophysiology
  • Amsterdam UMC
  • ERN GUARD-Heart

External person

Laura Baker

  • Alfred I. duPont Hospital for Children
  • Division of Medical Genetics
  • University of Pennsylvania
  • University of Pittsburgh

External person

J. L. Ambrus

  • National Institutes of Health
  • SUNY Buffalo

External person

T. L. Toler

  • Harvard University
  • Washington University St. Louis
  • Massachusetts General Hospital

External person

Catherine Blanchet

  • CHU Montpellier

External person

C. Conover Talbot

  • Johns Hopkins University
  • School of Medicine
  • Institute for Basic Biomedical Sciences

External person

Sébastien Küry

  • CHU de Nantes
  • Service de Génétique Médicale
  • Cancer Council Victoria
  • Nantes Université
  • Centre Hospitalier Universitaire (CHU) Nantes
  • CNRS UMR 6291

External person

Laurence Lion François

  • Hospices civils de Lyon

External person

Nathalie Dorison

  • Neurochirurgie Pédiatrique
  • Hopital de la Fondation Rothschild

External person

Amy Mctague

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

External person

Aisha H. Frazier

  • Johns Hopkins University
  • Division of Neonatology
  • Department of Pediatrics
  • Division of Pediatric Cardiology

External person

Yulia Wolfson

  • Johns Hopkins University
  • Cha.'s Office
  • Dana Center Data Coordinating Center
  • Cleveland Clinic Foundation

External person

Tuula Rinne

  • Radboud University Nijmegen

External person

K. W. Gripp

  • Alfred I. duPont Hospital for Children
  • University of Pennsylvania
  • Thomas Jefferson University
  • Division of Medical Genetics
  • Division of Translational Medicine and Human Genetics
  • Division of Medical Genetics
  • Depts. of Neurol. and Ophthalmology
  • DuPont
  • University of Philadelphia
  • Cook Children's Hospital
  • The Children's Hospital of Philadelphia

External person

Heiko Reutter

  • University of Bonn
  • Department of Human Genetics
  • Department of Neonatology
  • Institute of Human Genetics
  • Department of Neonatology and Pediatric Intensive Care
  • Institute of Human Genetics
  • Institute of Human Genetics
  • Sahlgrenska University Hospital
  • Department of Pediatric Surgery

External person

Ellyn Farrelly

  • Stanford University
  • Department of Genetics
  • Stanford Program on Stem Cells in Society
  • Department of Genetics and Stanford Center for Biomedical Ethics
  • Lucile Packard Children's Hospital at Stanford
  • Lucile Packard Children's Hospital
  • Lucille Packard Children's Hospital

External person

Jenny L. Wilson

  • University of Pennsylvania
  • Stanford University
  • Oregon Health and Science University
  • Department of Pediatrics

External person

Katelyn Payne

  • Department of Neurology
  • Indiana University-Purdue University Indianapolis
  • Methodist Hospital/Clarian Health Partners
  • Indiana University Bloomington
  • Riley Hospital for Children

External person

Thomas Roujeau

  • Hôpital Gui de Chauliac
  • CHU Montpellier

External person

M. Tarnopolsky

  • McMaster University
  • Department of Pediatrics
  • Department of Medicine
  • McMaster University
  • Division of Gastroenterology
  • Department of Medicine
  • Hamilton Health Sciences

External person

Bert B.A.de Vries

  • Radboud University Nijmegen

External person

Rebecca Willaert

  • GeneDx
  • GeneDX Inc
  • OPKO Health, Inc.

External person

Giuseppe Zampino

  • Fondazione Policlinico Universitario Agostino Gemelli IRCCS
  • Catholic University of the Sacred Heart

External person

Daniel F. Dilling

  • Loyola University Chicago

External person

Dolly Zhen

  • Oregon Health and Science University

External person

Philippe M. Campeau

  • University of Montreal

External person

Diane Doummar

  • Universite Pierre et Marie Curie
  • Sorbonne Université

External person

Philippe Coubes

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

External person

Poyyapakkam R. Srivaths

  • Baylor College of Medicine
  • Department of Pediatrics
  • Texas Children's Hospital Houston

External person

James H. Tepperberg

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

External person

Emanuele Agolini

  • IRCCS Ospedale pediatrico Bambino Gesù - Roma

External person

Justin M. Oldham

  • University of California at Davis
  • Department of Medicine and
  • University of Michigan, Ann Arbor

External person

Livija Medne

  • University of Pennsylvania
  • University of Toronto
  • Division of Pediatric Nephrology
  • Division of Respiratory Medicine
  • Children' Hospital of Philadelphia
  • The Children's Hospital of Philadelphia

External person

David A. Stevenson

  • University of Utah
  • Stanford University
  • Lucille Packard Children's Hospital
  • Department of Pediatrics
  • Department of Pediatrics
  • School of Medicine
  • Division of Pediatric Neurology
  • Department of Pediatrics
  • Division of Medical Genetics
  • School of Medicine
  • Lucille Packard Children's Hospital
  • New York University

External person

Dora Steel

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

External person

Ladonna Immken

  • Dell
  • Dell Children's Medical Center of Central Texas
  • Department of Clinical and Metabolic Genetics
  • Department of Genetics Specially for Children Genetics

External person

Emilie Chan Seng

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

External person

J. R. Lupski

  • Johns Hopkins University
  • Baylor College of Medicine
  • Dept. of Molec. and Human Genetics
  • Department of Pediatrics
  • Texas Children's Hospital
  • Dept. of Molec. and Human Genetics
  • Department of Pediatrics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Pediatrics
  • Human Genome Sequencing Center
  • Institute for Molecular Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular Genetics
  • Department of Pediatrics
  • Department of Pediatrics
  • Texas Children's Hospital
  • Section of Neonatology
  • Texas Children's Hospital Houston

External person

Paola Grammatico

  • University of Rome La Sapienza

External person

Teresa R. Luperchio

  • Johns Hopkins University
  • Center for Epigenetics
  • Department of Biological Chemistry
  • Department of Biological Chemistry
  • Department of Biological Chemistry
  • Epigenetics Center
  • School of Medicine
  • McKusick-Nathans Institute of Genetic Medicine

External person

Aubrie Soucy

  • Harvard University
  • Membership of the SPARK Consortium Members is Provided in the Acknowledgements
  • Boston Children's Hospital

External person

Olaf Bodamer

  • Division of Genetics and Genomics
  • Harvard University
  • Department of Medicine
  • Department of Pediatrics
  • Division of Genetics and Genomics
  • Broad Institute
  • University of Miami
  • Boston Children's Hospital

External person

Courtney Berrios

  • Johns Hopkins University
  • Center for Complex Disease Genomics
  • McKusick-Nathans Institute of Genetic Medicine
  • McKusick-Nathans Institute of Genetic Medicine
  • Center for Complex Disease Genomics
  • Children's Mercy Research Institute
  • Center for Complex Disease Genomics

External person

Reza Asadollahi

  • University of Zurich

External person

Jacquelyn F. Britton

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

External person

J. Carl Pallais

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

External person

Brent Fogel

  • University of California at Los Angeles
  • Deparatment of Neurology
  • Department of Veterans Affairs
  • National Institutes of Health, Bethesda

External person

Ines Brosse

  • Heidelberg University 

External person

Nutan Sharma

  • Harvard University
  • Harvard Brain Science Initiative
  • Department of Neurology
  • Brigham and Women’s Hospital
  • Massachusetts General Hospital

External person

Cynthia J. Curry

  • University of California at San Francisco
  • Valley Children's Hospital - Fresno County
  • Genetic Medicine Central California
  • University Pediatric Specialists

External person

Bennett Lavenstein

  • George Washington University
  • Department of Neurology

External person

P. D. Turnpenny

  • Royal Devon and Exeter Hospital
  • Royal Devon & Exeter NHS Foundation Trust
  • University of Exeter

External person

Rolph Pfundt

  • Radboud University Nijmegen
  • Maastricht University
  • Department of Human Genetics
  • Department of Human Genetics
  • Academic Medical Center

External person

Audrey Labalme

  • Université de Lyon
  • Department of Genetics
  • Université de Lyon
  • Hospices civils de Lyon
  • Lyon University Hospital
  • Pathologies de la Myéline et Neuro-inflammation

External person

Jennifer E. Posey

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

External person

Jill A. Rosenfeld

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

External person

John G. Pappas

  • New York University
  • Department of Pediatrics
  • Department of Clinical Genetics
  • Johns Hopkins University

External person

William A. Gahl

  • National Institutes of Health
  • National Institutes of Health, Bethesda
  • Johns Hopkins University
  • Intramural Program of the Office of Rare Diseases
  • the Office of Rare Diseases
  • Armed Forces Institute of Pathology
  • (EMG Section)
  • United States Department of Defense
  • Medical Genetics Branch

External person

Karen K. Phillips

  • Laboratory Corporation of America
  • Department of Cytogenetics
  • Laboratory Corporation of America

External person

Sharon Smith

  • Harvard University
  • Boston Children's Hospital

External person

Yuval Salzberg

  • The Azrieli Faculty of Medicine
  • Bar-Ilan University

External person

Shalini N. Jhangiani

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

External person

John R. Ostergaard

  • Aarhus University

External person

Rui Xiao

  • Baylor College of Medicine
  • University of Michigan, Ann Arbor
  • Department of Biostatistics
  • Department of Biostatistics
  • Baylor Genetics, LLC
  • University of California at San Diego

External person

Sarah J. Swartz

  • Baylor College of Medicine
  • Division of Pediatric Nephrology
  • Texas Children's Hospital
  • Texas Children's Hospital Houston

External person

Stephen G. Bolton

  • Johns Hopkins University
  • Department of Ophthalmology, 825 Maumence Bldg.
  • Division of Infectious Diseases

External person

Zeynep H. Coban Akdemir

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

External person

Shen Gu

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

External person

Julien Marcadier

  • University of Calgary
  • Alberta Children's Hospital

External person

Catharina M L Volker-Touw

  • Utrecht University
  • Department of Medical Genetics

External person

Jennifer Heeley

  • Washington University St. Louis
  • Mercy Kids Genetics
  • Mercy Hospital
  • Mercy Clinic-Kids Genetics
  • Mercy Hospital St. Louis

External person

Amnon Harel

  • Hebrew University of Jerusalem
  • Department of Genetics
  • The Azrieli Faculty of Medicine
  • Bar-Ilan University
  • Department of Genetics

External person

Janet Talbert

  • Vanderbilt University
  • University of Colorado Anschutz Medical Campus
  • University of Colorado Denver
  • National Jewish Health

External person

M. Y. Zahoor

  • University of the Punjab
  • University of Veterinary and Animal Sciences, Lahore, Pakistan

External person

Arundhati S. Kale

  • Baylor College of Medicine
  • Department of Pediatrics
  • Texas Children's Hospital Houston

External person

Somaya Salah

  • Hadassah University Medical Centre
  • Monique and Jacques Roboh Department of Genetic Research

External person

Cara M. Skraban

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

External person

Jean Pierre Lin

  • King's College London
  • Evelina London Children's Hospital
  • King's Health Partners

External person

Friedhelm Hildebrandt

  • Harvard University

External person

Elise Schaefer

  • Hôpital civil
  • Université de Strasbourg
  • Medical Genetics Service
  • Laboratoire de Diagnostic Génétique

External person

Peter R. Papenhausen

  • LabCorp
  • Laboratory Corporation of America
  • Department of Cytogenetics
  • Laboratory Corporation of America

External person

Claudio M. de Gusmão

  • Harvard University
  • Boston Children's Hospital

External person

Martin Broly

  • Nantes Université

External person

Anita Rauch

  • University of Zurich
  • Institute of Human Genetics
  • Institute of Medical Genetics

External person

David Hamm

  • Adaptive Biotechnologies

External person

Karyl Barron

  • National Institutes of Health
  • National Institute of Allergy and Infectious Diseases

External person

Ishwar C. Verma

  • Institut national de la santé et de la recherche médicale
  • Department of Genetic Medicine
  • Sir Ganga Ram Hospital
  • Editorial Office
  • Sri Ganga Ram Hospital

External person

Emily Fassi

  • Department of Pediatrics
  • Washington University St. Louis

External person

Milen Velinov

  • New York State Office for People with Developmental Disabilities
  • Rutgers - The State University of New Jersey, New Brunswick

External person

Natalia Sampaio Moura

  • National Institutes of Health
  • University of Maryland, Baltimore

External person

Elizabeth Keitges

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

External person

Michael F. Walsh

  • Memorial Sloan-Kettering Cancer Center
  • Department of Pediatrics
  • Department of Pediatrics
  • Johns Hopkins University
  • Institute of Genetic Medicine
  • Department of Oncology
  • St. Jude Children Research Hospital
  • Division of Neonatology

External person

Janice L. Smith

  • Laboratory Corporation of America
  • Laboratory Corporation of America

External person

David B. Beck

  • National Institutes of Health
  • National Institutes of Health, Bethesda
  • New York University
  • Center for Human Genetics and Genomics

External person

Manju A. Kurian

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

External person

Gustavo Polo

  • Hôpital neurologique et neurochirurgical Pierre Wertheimer

External person

Natalie Trump

  • University College London
  • North East Thames Regional Genetics Services

External person

Eva B. Forman

  • Department of Paediatric Neurology and Clinical Neurophysiology
  • Children’s Health Ireland at
  • Children’s Health Ireland

External person

Eric W. Klee

  • Mayo Clinic Rochester, MN
  • Division of Primary Care Internal Medicine
  • Department of Health Sciences Research
  • Department of Clinical Genomics
  • Department of Laboratory Medicine and Pathology
  • Center for Individualized Medicine
  • Division of Biomedical Statistics and Informatics
  • North West Thames Regional Genetics Service
  • Service de Génétique Clinique
  • Imperial College London
  • Assistance publique - Hôpitaux de Marseille
  • Department of Clinical Genomics Department of Health Sciences Research
  • Biomedical Statistics and Informatics
  • London North West University Healthcare NHS Trust
  • Marseille Teaching Hospital

External person

M. Michael

  • National Academy of Sciences
  • Baylor College of Medicine
  • Department of Pediatrics
  • Texas Children's Hospital Houston

External person

Christopher G. Kanakry

  • Johns Hopkins University
  • National Institutes of Health
  • Division of Hematologic Malignancies
  • Department of Hematologic Malignancies
  • Sydney Kimmel Comprehensive Cancer Center
  • Experimental Transplantation and Immunology Branch
  • Department of Oncology and Sidney Kimmel Comprehensive Cancer Center
  • Division of Hematologic Malignancies
  • Department of Oncology
  • Department of Oncology
  • Department of Oncology
  • National Institutes of Health, Bethesda
  • Genes, Cognition and Psychosis Program
  • Department of Oncology

External person

M. J H Van Den Boogaard

  • Utrecht University

External person

Drew G. Michael

  • Center for Genetic Medicine Research, Children's National Health System

External person

Orly N. Elpeleg

  • Shaare Zedek Medical Center
  • Hadassah University Medical Centre
  • Monique and Jacques Roboh Department of Genetic Research
  • Monique and Jacques Roboh Department of Genetic Research
  • Hebrew University of Jerusalem
  • Hadassah School of Public Health

External person

Ciro Leonardo Pierri

  • Laboratory of Biochemistry
  • University of Bari

External person

Mir Reza Bekheirnia

  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • Scott Department of Urology
  • Center for Reproductive Medicine
  • Columbia University
  • Texas Children's Hospital Houston

External person

The American Genome Center

  • Henry Jackson Foundation

External person

Thomas Courtin

  • University College London
  • Universite Pierre et Marie Curie
  • Assistance publique – Hôpitaux de Paris
  • Sorbonne Université

External person

Lior Borovik

  • Sanford Children's Hospital

External person

Emma L. Baple

  • RILD Wellcome Wolfson Centre
  • Department of Clinical Genetics
  • Royal Devon & Exeter NHS Foundation Trust
  • University of Exeter

External person

Alyssa A. Riley

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

External person

Edmond T. Gonzales

  • Baylor College of Medicine
  • Scott Department of Urology
  • Texas Children's Hospital Houston

External person

Catherine Buchanan

  • Department of Clinical and Metabolic Genetics

External person

C. Stevens

  • National Institutes of Health, Bethesda
  • Virginia Commonwealth University
  • University of Tennessee College of Medicine
  • University of Tennessee College of Medecine
  • Department of Human Genetics
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Human Genetics
  • Department of Pediatrics
  • University of Tennessee, Chattanooga
  • University of Tennessee Health Science Center

External person

Jorune Balciuniene

  • Karolinska Institutet
  • Uppsala University
  • University of Minnesota Twin Cities
  • Department of Genetics, Cell Biology and Development
  • Developmental Biology Center
  • Neurogenetics Unit
  • Department of Genetics
  • University of Pennsylvania
  • The Children's Hospital of Philadelphia

External person

Nitzan Biran

  • The Azrieli Faculty of Medicine
  • Bar-Ilan University

External person

Asif Doja

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

External person

Sandra Jansen

  • Radboud University Nijmegen
  • Academic Medical Center

External person

Hane Lee

  • University of California at Los Angeles
  • Department of Medicine
  • Department of Human Genetics
  • Department of Pathology and Laboratory Medicine
  • Dept. of Pathol. and Lab. Medicine
  • National Institutes of Health, Bethesda
  • Inc.

External person

Iqra Ghulam Rasool

  • University of Veterinary and Animal Sciences, Lahore, Pakistan
  • Friedrich-Alexander University Erlangen-Nürnberg

External person

Coralie Michaud

  • University of Montreal

External person

Patrick R. Blackburn

  • Mayo Clinic Rochester, MN
  • Department of Health Sciences Research
  • Department of Laboratory Medicine and Pathology
  • Center for Individualized Medicine
  • St. Jude Children’s Reseach Hospital

External person

Amanda K. Ombrello

  • National Institutes of Health

External person

David R. Fitzpatrick

  • University of Edinburgh

External person

Jeff L. Waugh

  • Harvard University
  • Department of Neurology
  • Department of Pediatrics
  • University of Texas Southwestern Medical Center
  • University of Texas at Dallas

External person

T. Kleefstra

  • Department of Human Genetics
  • Radboud University Nijmegen
  • Department of Human Genetics
  • Maastricht University
  • Vincent Van Gogh Institute for Psychiatry
  • Erasmus University Rotterdam

External person

M. C. Willing

  • University of Iowa
  • University at St. Louis
  • Washington University St. Louis
  • Department of Pediatrics
  • Department of Pediatrics
  • Division of Genetics and Genomics
  • Department of Pediatrics
  • Division of Nephrology
  • Saint Louis University

External person

Chloé Laurencin

  • Hôpital neurologique et neurochirurgical Pierre Wertheimer

External person

Kailash P. Bhatia

  • University College London
  • Sobell Department for Motor Neuroscience and Movement Disorders
  • Sobell Department of Motor Neuroscience
  • Department of Clinical and Movement Neurosciences

External person

Erin M. Parry

  • Harvard University
  • Dana-Farber Cancer Institute
  • Johns Hopkins University

External person

Diane Demailly

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

External person

Francois Schiettecatte

  • FS Consulting LLC
  • FS Consulting LLC
  • LLC

External person

Bert De Vries

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

External person

María Kibaek

  • H.C. Andersen Children's Hospital
  • Department of Pediatrics
  • University of Southern Denmark

External person

Fiona Stewart

  • Belfast Health and Social Care Trust

External person

Victor S.C. Fung

  • Westmead Hospital
  • University of Sydney

External person

Donna M. Muzny

  • University of British Columbia
  • Baylor College of Medicine
  • Human Genome Sequencing Center
  • Canada's Michael Smith Genome Sciences Centre
  • Department of Molecular and Human Genetics
  • Human Genome Sequencing Center
  • Department of Molecular and Human Genetics
  • Department of Human Genetics
  • Harvard University
  • Diabetes Unit
  • Department of Medicine
  • Human Genome Sequencing Center
  • College of Medicine
  • University of Pennsylvania
  • Department of Pediatrics
  • Membership of the SPARK Consortium Members is Provided in the Acknowledgements
  • University of Texas MD Anderson Cancer Center
  • Provincial Health Services Authority
  • The Barcelona Institute of Science and Technology
  • Pompeu Fabra University
  • University of Tübingen
  • National Institutes of Health, Bethesda
  • Massachusetts General Hospital

External person

Stuart Schwartz

  • University of Maryland, Baltimore
  • Case Western Reserve University
  • University of Maryland, College Park
  • Akron Children's Hospital
  • Center for Human Genetics
  • Laboratory Corporation of America
  • Department of Genetics
  • Ireland Cancer Center
  • Dept. of Obstetrics and Gynecology
  • Department of Pediatrics
  • Department of Cytogenetics
  • Center for Human Genetics
  • Department of Genetics and Pediatrics
  • Department of Genetics
  • Laboratory Corporation of America
  • Department of Genetics
  • Department of Obstetrics
  • Department of Obstetrics and Gynecology
  • Department of Pediatrics
  • The University of Chicago
  • Department of Pediatrics
  • Johns Hopkins University
  • Patuxent Medical Group
  • Medical Biotechnology Center of the Maryland Biotechnology Institute
  • Department of Obstetrics and Gynecology
  • Gynecologic Pathology Laboratroy
  • Akron Children's Hospital
  • University of Maryland Medical System

External person

Cyril Mignot

  • Department of Genetics
  • Hôpital Robert Debré AP-HP
  • Sorbonne Université
  • Centre de Référence Déficiences Intellectuelles de Causes Rares
  • Universite Pierre et Marie Curie
  • Hôpital Armand Trousseau
  • Harvard University

External person

Karen Powell

  • Cone Health Cancer Center

External person

Jessica Litwin

  • University of California at San Francisco

External person

Yunhong Wu

  • Shanxi Children’s Hospital

External person

Kimberly A. Aldinger

  • Children's Hospital and Regional Medical Center Seattle
  • Center for Integrative Brain Research
  • Seattle Children's Research Institute
  • Seattle Children's Research Institute
  • Seattle Children’s Research Institute
  • Seattle Children's Hospital and Research Institute
  • Brotman Baty Institute for Precision Medicine

External person

Derek A. Wong

  • University of California at Los Angeles
  • Howard Hughes Medical Institute

External person

Laurence Walsh

  • Methodist Hospital/Clarian Health Partners
  • Indiana University Bloomington

External person

Shannon Sattler

  • Carle Physician Group

External person

David R. Roth

  • Baylor College of Medicine
  • Scott Department of Urology
  • Texas Children's Hospital Houston

External person

Nasim Bekheirnia

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

External person

Michael Schneider

  • Carle Physician Group

External person

Mathilde Nizon

  • Nantes Université
  • Department of Medical Genetics
  • CHU de Nantes
  • Centre Hospitalier Universitaire (CHU) Nantes

External person

Anna Znaczko

  • Belfast Health and Social Care Trust

External person

Rachel G. Fox

  • Oregon Health and Science University

External person

George E. Tiller

  • Kaiser Permanente

External person

Kelly Fagan

  • University of California at San Francisco

External person

Natalie Deuitch

  • National Institutes of Health

External person

Wui K. Chong

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

External person

Boxun Zhao

  • National Institute of Biological Sciences, Beijing
  • Peking Union Medical College
  • Graduate School of Peking Union Medical College
  • Harvard University
  • Boston Children's Hospital

External person

Scott Wenderfer

  • Baylor College of Medicine
  • Department of Pediatrics
  • Section of Neonatology
  • Texas Children's Hospital Houston
  • University of British Columbia
  • Provincial Health Services Authority

External person

Nikoleta Argyrou

  • Harvard University
  • Boston Children's Hospital

External person

Simon Edvardson

  • Pediatric Neurology Unit
  • Monique and Jacques Roboh Department of Genetic Research
  • Hadassah University Medical Centre
  • Department of Pediatric Neurology

External person

Katie Fiallos

  • National Institutes of Health
  • Johns Hopkins University
  • 31 Center Drive

External person

Allison Gregory

  • Oregon Health and Science University

External person

Tracey D. Graves

  • North West Anglia NHS Foundation Trust

External person

Gilles Cambonie

  • CHU Montpellier

External person

Katherine Agre

  • Mayo Clinic Rochester, MN
  • Department of Clinical Genomics

External person

Christine Kim Garcia

  • Columbia University
  • University of Texas Southwestern Medical Center

External person

Roshini S. Abraham

  • Mayo Clinic Rochester, MN
  • Department of Laboratory Medicine and Pathology
  • Department of Medicine
  • Division of Hematology
  • Ohio State University
  • Nationwide Children’s Hospital

External person

Tojo Nakayama

  • Harvard University
  • Boston Children's Hospital

External person

Ariane Soldatos

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

External person

A. Roubertie

  • Gui de Chauliac Hospital
  • CHU Montpellier
  • UMR 5554
  • Hôpital Gui de Chauliac
  • Institut national de la santé et de la recherche médicale

External person

Jonathan D. Picker

  • Harvard University
  • Division of Genetics and GenomicsBoston Children's Hospital
  • Departments of Genetics and Child Psychiatry
  • Department of Genetics and Genomics
  • Boston Children's Hospital

External person

Qing Zhou

  • National Institutes of Health

External person

André Reis

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

External person

Boris Keren

  • Universite Pierre et Marie Curie
  • Sorbonne Université
  • Hôpital Armand Trousseau
  • Assistance publique – Hôpitaux de Paris

External person

Stephanie Sacharow

  • University of Miami
  • Harvard University
  • Department of Human Genetics
  • Division of Medical Genetics
  • Boston Children's Hospital

External person

Weimin He

  • Baylor College of Medicine
  • Baylor Genetics, LLC

External person

Alba Sanchis-Juan

  • Cambridge University Hospitals NHS Foundation Trust
  • University of Cambridge
  • Massachusetts General Hospital
  • Broad Institute

External person

Lucia Abela

  • University College London

External person

Alice Poisson

  • Lyon University Hospital

External person

Paranchai Boonsawat

  • University of Zurich

External person

Christine W. Gao

  • Johns Hopkins University
  • Department of Molecular Biology and Genetics

External person

Giulia Pascolini

  • University of Rome La Sapienza

External person

Marie Hully

  • Département de Neurologie
  • Université Paris 5
  • Université Paris Cité

External person

C. Toro

  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • Human Motor Control Section
  • National Human Genome Research Institute
  • Office of the Clinical Director
  • Undiagnosed Diseases Program

External person

Lydie Burglen

  • Hôpital Armand Trousseau

External person

David S. Wolf

  • Emory University
  • Johns Hopkins University

External person

Ewa Elenberg

  • Baylor College of Medicine
  • Department of Pediatrics
  • Texas Children's Hospital Houston

External person

Christina R. Fagerberg

  • University of Southern Denmark
  • Department of Clinical Genetics

External person

Elizabeth L. Fieg

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

External person

Mario Sa

  • Evelina London Children's Hospital

External person

Zaheer M. Valivullah

  • National Institutes of Health
  • National Institutes of Health, Bethesda
  • Broad Institute

External person

Natalia Simanovsky

  • Department of Medical Imaging
  • Hadassah University Medical Centre

External person

Muhammad Iqbal

  • Islamia University

External person

Konrad Platzer

  • Leipzig University
  • Institute of Human Genetics

External person

B. Callewaert

  • Ghent University
  • Centre for Medical Genetics

External person

S. Schmidt

  • Spectrum Health

External person

Candice R. Finnila

  • HudsonAlpha Institute for Biotechnology

External person

Patrycja Hoffmann

  • National Institutes of Health

External person

Christina A. Gurnett

  • Washington University St. Louis
  • Department of Neurology
  • Department of Orthopedic Surgery
  • Department of Neurology
  • Department of Pediatrics
  • University of Wisconsin-Madison

External person

Laura Cif

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

External person

John W. Belmont

  • Baylor College of Medicine
  • Amgen Incorporated
  • National Institutes of Health
  • University of Miami
  • United States Department of Agriculture
  • Human Genome Sequencing Center
  • United States Department of Agriculture
  • Department of Molecular and Human Genetics
  • Dept. of Molec. and Human Genetics
  • Department of Immunology
  • Dept. of Experimental Hematology
  • Department of Microbiology and Immunology
  • Mammalian Genetics Laboratory
  • Department of Microbiology and Immunology
  • Texas Children's Hospital Houston
  • Illumina

External person

Daryl A. Scott

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

External person

Chloé Hudon

  • University of Montreal

External person

Houriya Ayoubieh

  • Baylor-Hopkins Center for Mendelian Genomics
  • Division of Neonatology
  • Johns Hopkins University
  • Texas Tech University Health Sciences Center El Paso
  • University of New Mexico

External person

Madeleine Fannemel

  • University of Oslo
  • Department of Medical Genetics

External person

Daniel L. Kastner

  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • Institute of Allergy and Infectious Diseases
  • Genetics and Genomics Branch

External person

Christine M. Eng

  • Baylor College of Medicine
  • Icahn School of Medicine at Mount Sinai
  • Department of Molecular and Human Genetics
  • Baylor Genetics, LLC
  • Membership of the SPARK Consortium Members is Provided in the Acknowledgements
  • National Institutes of Health, Bethesda

External person

Mark Hallett

  • University of Texas Southwestern Medical Center
  • National Institutes of Health, Bethesda
  • Johns Hopkins University
  • National Cancer Institute United States
  • Istituto Nazionale di Riposo e Cura per Anziani - Ancona
  • Henry M. Jackson Foundation for the Advancement of Military Medicine
  • National Institutes of Health
  • Human Motor Control Section
  • Human Motor Control Section
  • Human Cortical Physiology Section
  • Department of Neurosurgery
  • Medical Neurology Branch
  • Department of Neurology
  • EEG Section
  • Henry M. Jackson Foundation
  • Archives of Neurology.
  • Clinical Neurophysiology
  • Sect. Neuropathology, Natl. Inst. M.

External person

Monica E. Lemmon

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

External person

Steffen Syrbe

  • Heidelberg University 
  • Division of Child Neurology and Inherited Metabolic Diseases

External person

Hugo Morales-Briceno

  • Westmead Hospital
  • University of Sydney

External person

Maria Carla Borroto

  • University of Montreal

External person

Christine Coubes

  • Département de Génétique Médicale
  • Hôpital Arnaud de Villeneuve
  • CHU Montpellier

External person

Richard Selway

  • King's College London

External person

Bruce R. Korf

  • University of Alabama
  • Harvard University
  • University of Alabama at Birmingham
  • Department of Genetics
  • Heflin Center for Genomic Sciences
  • Enders 5
  • Clinical Genetics
  • Cardiff University
  • Division of Genetics
  • Manchester University NHS Foundation Trust
  • Hôpital Henri Mondor
  • Boston Children's Hospital
  • Université Paris-Est Créteil
  • Johns Hopkins University

External person

Nikkola Carmichael

  • Harvard University
  • Boston Children's Hospital

External person

Jenny Lai

  • Harvard University
  • Boston Children's Hospital

External person

F. Lucy Raymond

  • University of Cambridge
  • Cambridge University Hospitals NHS Foundation Trust

External person

Ian D. Krantz

  • University of Pennsylvania
  • Division of Human Genetics
  • Drexel University
  • Johns Hopkins University
  • Division of Pediatric Nephrology
  • Divisions of Genetics and Metabolism
  • Department of Pediatrics
  • Division of Human Genetics
  • Division of Human Genetics and Molecular Biology
  • Div. of Human Genet./Molec. Biol.
  • Division of Human Genetics
  • Division of Human Genetics
  • Division of Genetics
  • Department of Pediatrics
  • Department of Pediatrics/Human Genetics
  • Division of Medical Genetics
  • Division of Genetics
  • Abramson Research Institute
  • Division of Human Genetics
  • Div. of Hum. Genet. and Molec. Biol.
  • Cornelia de Lange Syndrome Foundation
  • Clinical Advisory Board
  • Department of Pediatrics and Division of Human Genetics
  • Division of Cardiology
  • Cornelia de Lange Syndrome Foundation
  • University of Southern California
  • The Children's Hospital of Philadelphia

External person

Laila Selim

  • Cairo University
  • Department of Pediatric Neurology

External person

Jennifer A. Bassetti

  • Cornell University

External person

Ellen van Binsbergen

  • Utrecht University

External person

Marleen E.H. Simon

  • Utrecht University
  • Department of Genetics

External person

Clifford Takemoto

  • Johns Hopkins University
  • Center for Infection and Inflammation Imaging Research
  • Division of Neonatology
  • Division of Pediatric Hematology
  • School of Medicine
  • Division of Hematology
  • Burn Wound Colonization
  • Department of Pediatrics
  • Division of Pediatric Hemaioiogy
  • All Children's Research Institute
  • Department of Pediatrics-Hematology
  • Division of Pediatric Hematology
  • Division of Pediatric Hematology/Oncology
  • Department of Pediatrics
  • Department of Pediatrics
  • Johns Hopkins Bloomberg Children's Center
  • Department of Hematology
  • St. Jude Children Research Hospital
  • School of Medicine
  • Division of Pediatric Hematology
  • Division of Hematology
  • Division of Pediatric Hematology
  • Division of Hematology
  • JHU School of Medicine

External person

Thatjana Gardeitchik

  • Radboud University Nijmegen

External person

Brittney Murray

  • Johns Hopkins University
  • Division of CardiologyJohns Hopkins HospitalBaltimore Maryland
  • Division of Cardiology
  • Department of Medicine, Division of Cardiology, Johns Hopkins Hospital
  • McKusick-Nathans Institute of Genetic Medicine
  • Division of Hematology
  • Department of Medicine/Cardiology
  • Department of Medicine
  • Department of Medicine
  • Division of Cardiology
  • Division of Cardiology
  • Section of Cardiac Electrophysiology
  • School of Medicine
  • Division of Cardiology
  • Department of Cardiology
  • Division of Cardiac Electrophysiology
  • Division of Cardiology
  • Amsterdam UMC
  • ERN GUARD-Heart

External person

Sharyn Lincoln

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

External person

Erin Beaver

  • Washington University St. Louis
  • Mercy Kids Genetics
  • Mercy Hospital
  • Mercy Clinic-Kids Genetics
  • Mercy Hospital St. Louis

External person

Timothy W. Yu

  • Harvard University
  • Massachusetts Institute of Technology
  • Department of Genetics and Genomics
  • Department of Pediatrics
  • Program in Medical and Population Genetics
  • Division of Genetics
  • Division of Newborn Medicine, Department of Medicine
  • Membership of the SPARK Consortium Members is Provided in the Acknowledgements
  • Broad Institute
  • Division of Genetics and Genomics
  • Boston Children's Hospital

External person

Joshua D. Podlevsky

  • Arizona State University
  • Department of Chemistry and Biochemistry

External person

Joel B. Krier

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

External person

Matthew Bainbridge

  • Baylor College of Medicine
  • Codified Genomics, LLC
  • Human Genome Sequencing Center
  • Rady Children’s Institute for Genomic Medicine

External person

Michel Mondain

  • CHU Montpellier

External person

Cornelia Kraus

  • Friedrich-Alexander University Erlangen-Nürnberg

External person

Manju A. Kurian

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

External person

Mary B. Scholand

  • University of Utah
  • Department of Internal Medicine
  • Department of Medicine
  • Cardiovascular Genetics
  • Division of General Internal Medicine
  • The National Heart
  • The National Heart
  • The National Heart

External person