Calculated based on number of publications stored in Pure and citations from Scopus
20152023

Research activity per year

Network

Elaine Zackai

  • Children's Hospital of Philadelphia
  • University of Pennsylvania Hospital
  • University of Pennsylvania
  • Division of Human Genetics
  • Division of Human Genetics
  • Division of Human Genetics
  • Clinical Genetics Center
  • Department of Obstetrics and Gynecology
  • Clinical Genetics Center
  • Division of Human Genetics
  • Obstetrics and Gynecology
  • The Children's Hospital of Philadelphia

External person

Samantha A. Schrier Vergano

  • Eastern Virginia Medical School

External person

Jae Hyeok Lee

  • Pusan National University
  • Oregon Health and Science University

External person

Manju A. Kurian

  • Department of Neurology
  • University College London
  • Developmental Neurosciences
  • Neurosciences Unit
  • UCL Institute of Child Health and Great Ormond Street Hospital for Children NHS Foundation Trust

External person

Karen W. Gripp

  • A.I. DuPont Hospital for Children
  • Division of Medical Genetics
  • Alfred I. DuPont Hospital for Children
  • Medical Genetics, DuPont Hospital for Children
  • Alfred I. duPont Hospital for Children
  • DuPont
  • Division of Medical Genetics

External person

Alyssa Ritter

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

External person

Anne M. Slavotinek

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

External person

Luis Rohena

  • Long School of Medicine
  • United States Army
  • University of Texas Health Science Center at San Antonio
  • University of Texas Health Science Center at San Antonio

External person

Jennifer Friedman

  • Harvard University
  • Molecular Genetics Department
  • AECOM
  • University of California at San Diego
  • Rady Children's Hospital
  • Departments of Cellular and Molecular Medicine
  • Department of Neurology
  • Department of Neurology
  • Rady Children's Institute for Genomic Medicine
  • Massachusetts General Hospital

External person

Robert J. Hopkin

  • Cincinnati Children's Hospital Medical Center
  • Division of Human Genetics
  • University of Cincinnati

External person

Sarah Donoghue

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

External person

Malgorzata M.J. Nowaczyk

  • Hamilton Health Sciences
  • Pathology and Molecular Medicine and Pediatrics
  • McMaster University Medical Center
  • Dept of Pathology and Molecular Medicine
  • Department of Pathology and Molecular Medicine
  • McMaster University
  • Douglas Hospital Research Center
  • McGill University

External person

Anna C.E. Hurst

  • University of Alabama at Birmingham

External person

Jeffrey Hamada

  • Oregon Health and Science University
  • Department of Molecular and Medical Genetics
  • Pediatric Neurology

External person

Jennifer A. Bassetti

  • Cornell University

External person

Rachel Fox

  • Oregon Health and Science University
  • Department of Molecular and Medical Genetics
  • Pediatric Neurology

External person

Pedro A. Sanchez-Lara

  • University of Southern California
  • Center for Personalized Medicine
  • Cedars-Sinai Medical Center
  • University of California at Los Angeles
  • Children's Hospital Los Angeles

External person

John M. Slopis

  • University of Texas MD Anderson Cancer Center
  • Department of Pediatrics and Child Neurology

External person

Yolanda Martin

  • Universidad Autónoma de Madrid
  • Department of Genetics
  • Hospital Ramon y Cajal
  • Department of Genetics
  • Ramón y Cajal Health Research Institute

External person

Betül Emine Derinkuyu

  • Department of Pediatric Radiology
  • Dr. Sami Ulus Maternity and Children’s Research and Education Hospital

External person

Elizabeth McCormick

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

External person

Rebecca C. Ahrens-Nicklas

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

External person

Fabienne Cyprien

  • Hôpital Gui de Chauliac
  • Montpellier
  • CHU Montpellier

External person

Nathalie Dorison

  • Fondation Adolphe de Rothschild

External person

Ishwar C. Verma

  • Sri Ganga Ram Hospital
  • Sir Ganga Ram Hospital

External person

Neda Zadeh

  • University of California at Irvine

External person

Jessica X. Chong

  • The University of Chicago
  • University of Washington
  • Department of Human Genetics
  • Department of Pediatrics
  • Department of Human Genetics
  • Division of Pulmonary and Sleep Medicine
  • University of Washington
  • Brotman Baty Institute for Precision Medicine
  • Seattle Children's Hospital

External person

Elizabeth Siqveland

  • University of Minnesota Twin Cities
  • Genomics Medicine Program
  • Children's Hospitals and Clinics of Minnesota

External person

Victoria Gonzalez

  • Hôpital Gui de Chauliac
  • Montpellier
  • CHU Montpellier

External person

Colleen Davis

  • University of Washington
  • University of Washington

External person

Carolyn A. Felix

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

External person

Jenneke van den Ende

  • University of Antwerp
  • Department of Medical Genetics

External person

Hannah Robinson

  • Royal Devon & Exeter NHS Foundation Trust

External person

Nancy J. Mendelsohn

  • University of Minnesota Twin Cities
  • Genomics Medicine Program
  • Children's Hospitals and Clinics of Minnesota

External person

Alberto Spalice

  • University of Rome La Sapienza

External person

L. Adang

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

External person

Jacqueline M.M. Leonard

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

External person

Alvit Veber

  • Sheba Medical Center at Tel Hashomer
  • Metabolic Disease Unit

External person

Rebecca Mardach

  • University of California at San Diego

External person

Patrizia Porazzi

  • Thomas Jefferson University

External person

David Stevenson

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

External person

Julie S. Cohen

  • Kennedy Krieger Institute
  • Johns Hopkins University

External person

James Barry

  • United States Army
  • University of Texas Health Science Center at San Antonio
  • University of Texas Health Science Center at San Antonio

External person

Katelyn Hodge

  • Indiana University Bloomington

External person

Karin Panzer

  • University of Iowa

External person

Danita Velasco

  • University of Nebraska Medical Center

External person

Michael J. Lyons

  • Greenwood Genetics Center

External person

Neslida Kodra

  • INOVA Fairfax Hospital

External person

Kristin Lindstrom

  • Phoenix Children's Hospital
  • BioMarin Pharmaceutical Inc.

External person

Cristin Griffis

  • Children's Hospital of Wisconsin Wauwatosa

External person

Eva Trevisson

  • University of Padua
  • Clinical Genetics Unit

External person

Katharina Wimmer

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

External person

Kelly Kennelly

  • Children's Hospital of Michigan

External person

Mohnish Suri

  • Nottingham University Hospitals NHS Trust

External person

Eric Johanson

  • University of Washington
  • Center for Mendelian Genomics
  • University of Washington

External person

Shanti Balasubramaniam

  • University of Sydney
  • Princess Margaret Hospital for Children
  • Western Sydney Genetics Program
  • Department of Rheumatology and Metabolic Medicine
  • The Children's Hospital at Westmead

External person

Claudio Graziano

  • Ausl della Romagna Rimini
  • University of California at San Diego
  • Rady Children's Hospital

External person

Robert S. Greenwood

  • University of North Carolina at Chapel Hill

External person

Pui Yan Kwok

  • University of California at San Francisco
  • University of California San Francisco
  • Department of Dermatology
  • Cardiovascular
  • Department of Dermatology
  • Institute for Human Genetics
  • Department of Cardiovascular Research
  • Cardiovascular Research Institute
  • Gladstone Inst. of Cardiovasc. Dis.

External person

Miguel Del Campo

  • University of California at San Diego

External person

Anirudha Karvande

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

External person

Nina Gold

  • Harvard University

External person

Margaret Au

  • University of California at Los Angeles
  • Cedars-Sinai Medical Center

External person

Beverly Nelson

  • St. George's University Grenada

External person

Haley Streff

  • Baylor College of Medicine

External person

Leila Schwanemann

  • Oregon Health and Science University

External person

Tuula Rinne

  • Radboud University Nijmegen

External person

Sandra Chantot Bastaraud

  • Fondation Adolphe de Rothschild

External person

Hugo Morales-Briceno

  • Westmead Hospital
  • University of Sydney

External person

C. Sue Richards

  • Oregon Health and Science University

External person

Hane Lee

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

External person

Fiona Stewart

  • Belfast Health and Social Care Trust
  • Genetics Service
  • Northern Ireland Regional Genetics Centre

External person

Natalie Trump

  • University College London

External person

Elise Schaefer

  • Université de Strasbourg

External person

Amy Crunk

  • OPKO Health, Inc.

External person

Christopher Frazar

  • University of Washington
  • Center for Mendelian Genomics
  • University of Washington

External person

Dora Steel

  • University College London
  • UCL Institute of Child Health and Great Ormond Street Hospital for Children NHS Foundation Trust

External person

Peter Anderson

  • University of Washington
  • University of Washington

External person

Andrea K. Petersen

  • Randall Children's Hospital

External person

Dinel Pond

  • University of Minnesota Twin Cities
  • Genomics Medicine Program
  • Children's Hospitals and Clinics of Minnesota

External person

Yael Goldberg

  • Rabin Medical Center Israel

External person

D. Ross McLeod

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

External person

Vinod K. Misra

  • Central Michigan University
  • Children's Hospital of Michigan

External person

Martin B. Delatycki

  • Royal Children's Hospital
  • Clinical Genetics, Austin Health
  • University of Melbourne
  • Murdoch Children's Research Institute
  • Department of Paediatrics
  • Bruce Lefroy Centre for Genetic Health Research
  • Austin Health

External person

David D. Weaver

  • Indiana University Bloomington
  • Indiana University-Purdue University Indianapolis
  • Department of Medical and Molecular Genetics

External person

Grace Tran

  • University of Texas MD Anderson Cancer Center

External person

Maria Noelia Seco Moro

  • Hospital de Mostoles

External person

Kaleb H. Yohay

  • New York University

External person

Russell C. Dale

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

External person

Robert H. Listernick

  • Northwestern University

External person

Rebecca Miller

  • Fulgent Genetics
  • INOVA Fairfax Hospital

External person

Arnaud Molin

  • Université de Caen
  • University of Pennsylvania
  • The Children's Hospital of Philadelphia

External person

Angie Lichty

  • Greenwood Genetics Center

External person

Vincent d’Hardemare

  • Fondation Adolphe de Rothschild

External person

Andrea M. Lewis

  • Baylor College of Medicine

External person

Katherine Armstrong Bosanko

  • University of Arkansas for Medical Sciences
  • University of Arkansas for Medical Sciences

External person

Christophe Milesi

  • CHU Montpellier

External person

Nina N. Powell-Hamilton

  • Alfred I. duPont Hospital for Children

External person

Lydie Burglen

  • Hôpital Armand Trousseau

External person

Catherine Blanchet

  • CHU Montpellier

External person

Ping Yee Billie Au

  • University of Calgary

External person

Gali Heimer

  • Sheba Medical Center at Tel Hashomer
  • Tel Aviv University
  • Dr. Pinchas Borenstein Talpiot Medical Leadership Program
  • Pediatric Neurology Unit

External person

Fanny Mochel

  • Sorbonne Université

External person

Shekeeb S. Mohammad

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

External person

Sony Malhotra

  • Birkbeck University of London

External person

Florence Renaldo

  • Hôpital Robert Debré AP-HP

External person

June Ortenberg

  • McGill University

External person

Jill A. Fahrner

  • Johns Hopkins University

External person

Michel Tchan

  • Westmead Hospital
  • University of Sydney

External person

Veronica Saletti

  • IRCCS Foundation Rome
  • Developmental Neurology Unit
  • IRCCS Fondazione Istituto Neurologico Carlo Besta - Milano

External person

Davide Tonduti

  • IRCCS Foundation Rome
  • Child Neurology Department
  • IRCCS Fondazione Istituto Neurologico Carlo Besta - Milano

External person

Megan Chalupsky

  • Oregon Health and Science University

External person

Marie Bournez

  • Université de Bourgogne
  • Microbiologie

External person

Jonathan A. Bernstein

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

External person

Ghayda M. Mirzaa

  • The University of Chicago
  • University of Washington
  • Center for Integrative Brain Research, Seattle Children's Research Institute
  • Department of Human Genetics
  • Center for Integrative Brain Research, Seattle Children's Research Institute
  • Children's Hospital and Regional Medical Center Seattle
  • Seattle Children's Research Institute
  • Center for Integrative Brain Research, Seattle Children's Research Institute
  • Center for Integrative Brain Research, Seattle Children's Research Institute
  • Center for Integrative Brain Research
  • Center for Integrative Brain Research, Seattle Children's Research Institute
  • Department of Human Genetics
  • Division of Pulmonary and Sleep Medicine
  • Brotman Baty Institute for Precision Medicine
  • Seattle Children's Research Institute
  • Seattle Children’s Research Institute

External person

Swasti Pal

  • Sir Ganga Ram Hospital

External person

Serena Galosi

  • University of Rome La Sapienza

External person

Jean Pierre Lin

  • Guy's and St Thomas' NHS Foundation Trust
  • Children's Neurosciences Centre
  • King's College London
  • King's Health Partners
  • Guy’s and St Thomas’ NHS Foundation Trust

External person

Dusica Babovic-Vuksanovic

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

External person

Maria Descartes

  • University of Alabama at Birmingham

External person

Kathleen M. Gorman

  • University College London
  • UCL Institute of Child Health and Great Ormond Street Hospital for Children NHS Foundation Trust

External person

J. Carl Pallais

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

External person

Ellyn Farrelly

  • Stanford University
  • Lucile Packard Children's Hospital
  • Lucille Packard Children's Hospital

External person

Peggy D. Robertson

  • Division of Medical Genetics
  • University of Washington

External person

Maya Topf

  • Birkbeck University of London

External person

Marni J. Falk

  • Center for Human Genetics
  • Children's Hospital of Philadelphia
  • University of Pennsylvania
  • Case Western Reserve University
  • Department of Genetics
  • Department of Pediatrics
  • Children's Hospital of Philadelphia
  • Division of Human Genetics
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Pediatrics
  • The Children's Hospital of Philadelphia

External person

Lynn Sanford

  • Pediatric Neurology
  • Oregon Health and Science University
  • Department of Molecular and Medical Genetics
  • Section of Neuropathology
  • Department of Molecular and Medical Genetics

External person

Tyler Light

  • Oregon Health and Science University
  • University of Wisconsin-Madison
  • Oregon Hearing Research Center
  • Head and Neck Endocrine Surgery
  • Department of Pathology

External person

Natalie Burrill

  • University of Pennsylvania

External person

Brian H Y Chung

  • Hospital for Sick Children
  • University of Toronto
  • The University of Hong Kong
  • Department of Paediatrics and Adolescent Medicine

External person

Maria D. D'Agostino

  • McGill University

External person

Rachel K. Hachen

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

External person

Mitch Cunningham

  • Children's Hospital of Michigan

External person

Katie Bergstrom

  • Baylor College of Medicine
  • Texas Children's Cancer Center
  • Cornell University
  • University of Washington
  • Seattle Children's Hospital

External person

Staci Kallish

  • University of Pennsylvania

External person

Pavel N. Pichurin

  • Mayo Clinic Rochester, MN
  • Department of Medical Genetics
  • University of California at Los Angeles

External person

Alba Sanchis-Juan

  • University of Cambridge
  • Cambridge University Hospitals NHS Foundation Trust

External person

Richard Selway

  • King's College Hospital

External person

Eric Legius

  • KU Leuven
  • Department of Human Genetics

External person

Pim Suwannarat

  • Kaiser Hospital
  • Kaiser Permanente

External person

Janice Baker

  • Children’s Hospital in Minnesota

External person

Catherine Nowak

  • Harvard University
  • Divisions of Genetics
  • Boston Children's Hospital

External person

Ulrich A. Schatz

  • Innsbruck Medical University

External person

Suzanne M. Leal

  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • Center for Statistical Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics

External person

F. Lucy Raymond

  • University of Cambridge
  • Medical Research Council Epidemiology Unit
  • National Institute for Health Research BioResource-Rare Diseases
  • Department of Haematology
  • Cambridge University Hospitals NHS Foundation Trust

External person

Huong Tran

  • Oregon Health and Science University
  • Oregon Health and Science University
  • Department of Pathology
  • Department of Surgery

External person

Stanley F. Nelson

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

External person

Milen Velinov

  • New York State Office for People with Developmental Disabilities

External person

Rebekah K. Jobling

  • University of Toronto

External person

Sandra Janssens

  • Ghent University

External person

J. Stoler

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

External person

Eric Johns

  • University of Alabama at Birmingham

External person

Daniel J. McGoldrick

  • University of Colorado Denver
  • University of Colorado Anschutz Medical Campus

External person

Daniela Melis

  • University of Naples Federico II

External person

Jeff L. Waugh

  • University of Texas Southwestern Medical Center
  • Children's Hospital New Orleans

External person

Isabella Gabriel

  • Oregon Health and Science University
  • Department of Pathology

External person

Hakon Hakonarson

  • University of Pennsylvania
  • Children’s Hospital of Philadelphia
  • Center for Applied Genomics
  • Department of Pediatrics
  • Center for Applied Genomics
  • Department of Pediatrics
  • Division of Human Genetics
  • Center for Applied Genomics
  • Department of Pediatrics
  • Division of Human Genetics
  • Division of Human Genetics
  • University of Illinois at Chicago
  • Drug Abuse Research Center
  • Washington DC
  • Institute for Juvenile Research
  • Case Western Reserve University
  • The Children's Hospital of Philadelphia

External person

Jessica Pijoan

  • University of Washington
  • Center for Mendelian Genomics
  • University of Washington

External person

John Pappas

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

External person

Nechama Shalva

  • Sheba Medical Center at Tel Hashomer
  • Metabolic Disease Unit

External person

Victor S C Fung

  • University of Sydney
  • Department of Neurology
  • Westmead Hospital

External person

Michael E. Seifert

  • University of Alabama at Birmingham

External person

Sidney Krystal

  • Fondation Adolphe de Rothschild

External person

Wui K. Chong

  • University College London
  • UCL Institute of Child Health and Great Ormond Street Hospital for Children NHS Foundation Trust

External person

Giulio Piluso

  • University of Campania Luigi Vanvitelli

External person

Mary Alice Abbott

  • Tufts University
  • Department of Pediatrics
  • University of Massachusetts Medical School
  • University of Massachusetts-Baystate

External person

Sarah Green

  • Oregon Health and Science University
  • Oregon Health and Science University
  • Department of Surgery
  • Department of Pathology

External person

Adeline Ngoh

  • University College London
  • UCL Institute of Child Health and Great Ormond Street Hospital for Children NHS Foundation Trust

External person

Iris M. De Lange

  • Utrecht University

External person

Marisela E. Dy-Hollins

  • Harvard University
  • Massachusetts General Hospital

External person

Stephanie Wallace

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

External person

Arpita Kulkarni

  • Oregon Health and Science University

External person

Lois Starr

  • University of Nebraska Medical Center

External person

Colleen Muraresku

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

External person

Gail P. Jarvik

  • University of Washington
  • Washington University St. Louis

External person

Martha Nance

  • Hennepin County Medical Center
  • Hennepin Country Medical Center
  • Struthers Parkinson's Center, Park Nicollet Clinic
  • Struthers Parkinson's Center
  • Park Nicollet Health Services
  • Yeshiva University
  • Struthers Parkinson's Center
  • Harvard University
  • Alan and Barbara Mirken Department of Neurology
  • Department of Neurology
  • Hennepin Country Medical Center
  • Struthers Parkinson's Center
  • Continuum Health Partners, Inc.
  • University of Minnesota Twin Cities
  • Humanities and the Human Spirit
  • Massachusetts General Hospital

External person

Amy Theos

  • University of Alabama at Birmingham

External person

Zuhair Rahbeeni

  • King Faisal Specialist Hospital and Research Centre

External person

Laurence Lion François

  • Hospices civils de Lyon

External person

N. Dorrani

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

External person

Regie Lyn P Santos-Cortez

  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • Center for Statistical Genetics

External person

Michel Mondain

  • CHU Montpellier
  • Service d'Oto-Rhino-Laryngologie

External person

Emma L. Baple

  • Royal Devon & Exeter NHS Foundation Trust
  • University of Exeter
  • Queen Mary University of London

External person

Regina Bökenkamp

  • Leiden University

External person

Alicia Gomes

  • University of Alabama at Birmingham
  • Department of Pediatric Dentistry

External person

Janet Berg

  • United States Army
  • University of Texas Health Science Center at San Antonio
  • University of Texas Health Science Center at San Antonio

External person

Andrew Schmanski

  • University of Nebraska Medical Center

External person

Kelly Q. Minks

  • Department of Neurology
  • University of Rochester

External person

Carey Ronspies

  • University of Nebraska Medical Center

External person

Daryl A. Scott

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

External person

Ada Hamosh

  • Johns Hopkins University
  • Johns Hopkins Univ. Sch. of Medicine
  • OMIM. Johns Hopkins University. Baltimore
  • McKusick-Nathans Institute of Genetic Medicine (IGM)
  • Department of Pediatrics
  • McKusick-Nathans Institute of Genetic Medicine
  • Department of Pediatrics
  • School of Medicine
  • Department of Pediatrics
  • McKusick-Nathans Institute of Genetic Medicine
  • University of Pittsburgh
  • Johns Hopkins
  • Johns Hopkins
  • Johns Hopkins

External person

Linlea Armstrong

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

External person

Jessica D. Kushner

  • Oregon Health and Science University

External person

Sandra Giustini

  • University of Rome La Sapienza

External person

Neil Mahant

  • Westmead Hospital

External person

E. Meyer

  • UCL-Institute of Child Health
  • Great Ormond Street Hospital
  • University College London
  • University College London
  • Neurosciences Unit
  • Institute of Child Health
  • Department of Paediatric Neurology
  • Developmental Neurosciences
  • University of Lübeck
  • UCL Institute of Child Health and Great Ormond Street Hospital for Children NHS Foundation Trust

External person

D. A. Nickerson

  • Department of Genome Sciences
  • University of Washington
  • Division of Medical Genetics
  • Dept. of Genome Science/Medicine
  • Brotman Baty Institute for Precision Medicine

External person

Nahla Khalek

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

External person

Stephanie Fox

  • McGill University

External person

Kosuke Izumi

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

External person

Rebecca Signer

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

External person

Katy E. Barwick

  • University College London

External person

Scott Myers

  • Geisinger

External person

Dawn C. Allain

  • Ohio State University

External person

Noa Ruhrman Shahar

  • Rabin Medical Center Israel

External person

Noelle Fabie

  • Children’s Hospital in Minnesota

External person

Tracey D. Graves

  • North West Anglia NHS Foundation Trust

External person

Aaina Kochhar

  • Valley Children's Healthcare
  • Valley Children's Healthcare
  • Valley Children's Healthcare
  • Valley Children's Healthcare
  • Valley Children's Healthcare
  • Valley Children's Healthcare
  • Valley Children's Healthcare
  • Valley Children's Healthcare
  • Valley Children's Healthcare

External person

Julia Rankin

  • Peninsula Clinical Genetics Service
  • Royal Devon & Exeter NHS Foundation Trust

External person

Claudia A.L. Ruivenkamp

  • Leiden University

External person

Camilo Toro

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

External person

Cathy A. Stevens

  • University of Tennessee, Chattanooga
  • Department of Pediatrics
  • University of Tennessee Health Science Center

External person

Donald Basel

  • University of Liverpool
  • Division of Genetics
  • Department of Pediatrics
  • Oregon Health and Science University
  • Medical College of Wisconsin
  • Children's Hospital of Wisconsin Wauwatosa

External person

Teresa Giugliano

  • University of Campania Luigi Vanvitelli

External person

Meredith W. Allain

  • Stanford University

External person

Laura P. Pietikäinen

  • University of Oulu
  • Faculty of Biochemistry and Molecular Medicine and Biocenter Oulu

External person

Elijah J. Kravets

  • Department of Pediatrics
  • Stanford University

External person

John M. Graham

  • Division of Pediatric Pulmonology
  • University of California at Los Angeles
  • University of Washington
  • Dept. of Genome Science/Medicine
  • Department of Ophthalmology
  • Crippled Children's Division
  • Department of Medical Genetics
  • University of Oregon Health Sciences Center
  • Oregon Health and Science University
  • University of British Columbia
  • Medical Genetics Institute
  • Cedars-Sinai Medical Center
  • Division of Pulmonary and Sleep Medicine

External person

Sean McGee

  • University of Washington
  • Center for Mendelian Genomics
  • University of Washington

External person

Zoe Powis

  • Quest Diagnostics Kalamzoo

External person

K. Nicole Weaver

  • Division of Genetics
  • Cincinnati Children's Hospital Medical Center

External person

Xavier Vasques

  • European IBM Systems Center

External person

Alison Eaton

  • University of Alberta

External person

Julie D. Kaplan

  • University of Nebraska Medical Center

External person

Geoffrey Beek

  • University of Minnesota Twin Cities
  • Children's Hospitals and Clinics of Minnesota

External person

Kandamurugu Manickam

  • Nationwide Children's Hospital
  • Nationwide Children’s Hospital
  • Division of Critical Care
  • Ohio State University

External person

Yael Wilnai

  • Tel Aviv Sourasky Medical Center

External person

Brent L. Fogel

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

External person

Carolyn D. Applegate

  • Johns Hopkins University

External person

Laura Baker

  • Alfred I. duPont Hospital for Children
  • University of Pennsylvania

External person

Chelsea Chambers

  • University of Virginia

External person

Çiğdem Seher Kasapkara

  • Department of Pediatric Metabolism and Nutrition
  • Dr. Sami Ulus Maternity and Children’s Research and Education Hospital

External person

Gilles Cambonie

  • CHU Montpellier

External person

Maurizio Clementi

  • University of Padua

External person

Mark Hallett

  • NIH
  • National Institutes of Health, Bethesda
  • National Institute of Neurologic Disorders and Stroke
  • National Institutes of Health
  • NINDS
  • Human Motor Control Section
  • G.B. Pant Hospital India

External person

Michelle Adutwum

  • UCSF Benioff Children's Hospital Oakland

External person

Katie Guegan

  • Royal Devon & Exeter NHS Foundation Trust

External person

Natalie S. Hauser

  • Fulgent Genetics
  • INOVA Fairfax Hospital

External person

Joseph H. Hersh

  • University of Louisville School of Medicine
  • University of Louisville
  • Kosair Children's Hospital

External person

Mina Grippa

  • University of Bologna

External person

S. Lane Rutledge

  • University of Alabama at Birmingham
  • Department of Pediatric Dentistry

External person

Eran Eyal

  • Sheba Medical Center at Tel Hashomer

External person

M. Jones

  • Oregon Health Sciences University
  • Children's Hospital/Health Center
  • University of Pennsylvania Hospital
  • Rady Children's Hospital
  • University of Pennsylvania
  • Oregon Health and Science University
  • Department of Molecular and Medical Genetics
  • Dysmorphology and Clinical Genetics
  • Department of Obstetrics and Gynecology
  • University of California at San Diego
  • Obstetrics and Gynecology

External person

David R. Fitzpatrick

  • University of Edinburgh

External person

Kati J. Buckingham

  • University of Washington
  • Center for Mendelian Genomics
  • Department of Pediatrics
  • University of Washington
  • Division of Pulmonary and Sleep Medicine

External person

Elizabeth Bhoj

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

External person

Fabiola Quintero-Rivera

  • The University of Hong Kong
  • University of California at Irvine
  • University of California at Los Angeles

External person

Aranzazu Díaz De Bustamante

  • Hospital de Mostoles

External person

Gail Tomlinson

  • Southwestern Medical Center
  • Roswell Park Cancer Institute
  • University of Texas Southwestern Medical Center
  • University of Texas Southwestern Medical Center
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Pediatrics
  • University of Texas MD Anderson Cancer Center
  • University of Texas Health Science Center at San Antonio
  • University of Texas at Dallas

External person

Kelly A. Mills

  • Johns Hopkins University

External person

John R. Ostergaard

  • Department of Pediatrics
  • Aarhus University

External person

Jerica Lenberg

  • Rady Children's Hospital

External person

Marcus Annable

  • University of Washington
  • Center for Mendelian Genomics
  • University of Washington

External person

Kirstin Smith

  • University of Alabama at Birmingham

External person

Kathleen B.M. Claes

  • Ghent University

External person

Holly Dubbs

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

External person

Jasmine L.F. Fung

  • The University of Hong Kong
  • Department of Paediatrics and Adolescent Medicine

External person

Zornitza Stark

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

External person

Ana G. Cristancho

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

External person

M. D. King

  • Department of Paediatric Neurology
  • Children's University Hospital, Dublin
  • Children's University Hospital Dublin
  • University College Dublin

External person

Cynthia M. Powell

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

External person

Thoa K. Ha

  • University of California at San Francisco

External person

J. Kalervo Hiltunen

  • University of Oulu
  • Faculty of Biochemistry and Molecular Medicine and Biocenter Oulu

External person

Veronique Lefebvre

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

External person

Claudia Santoro

  • University of Campania Luigi Vanvitelli

External person

Brooke Levin

  • Rowan University
  • University of Medicine and Dentistry of New Jersey
  • Cooper University Health Care

External person

Punita Gupta

  • St. Joseph's Hospital and Medical Center, Phoenix
  • St. Joseph's Regional Medical Center, Paterson

External person

Dolly Zhen

  • Pediatric Neurology
  • Oregon Health and Science University
  • Department of Molecular and Medical Genetics

External person

Angela Sharp

  • University of Alabama at Birmingham
  • Department of Pediatric Dentistry

External person

Aslı İnci

  • Department of Pediatric Metabolism and Nutrition
  • Gazi University

External person

Allison Schreiber

  • Cleveland Clinic Foundation

External person

Ruth Sheffer

  • Hadassah University Medical Centre

External person

David W. Stockton

  • Wayne State School of Medicine
  • Baylor College of Medicine
  • Wayne State University
  • Children's Hospital of Michigan
  • Division of Genetic and Metabolic Disorders
  • Division of Genetic and Metabolic Disorders
  • Department of Pediatrics and Department of Internal Medicine
  • Diagnostic Sequencing Laboratory
  • Parkinson's Disease Center
  • Carman and Ann Adams Department of Pediatrics
  • Department of Neurology

External person

Bert B A De Vries

  • Radboud University Medical Center
  • University Medical Centre
  • Radboud University Nijmegen Medical Center
  • Radboud University Medical Centre
  • Radboud University Nijmegen
  • University Medical Center Nijmegen
  • Department of Human Genetics
  • Department of Human Genetics
  • Donders Institute for Brain
  • Institute for Genetic and Metabolic Disease
  • Department of Human Genetics
  • IRCCS Oasi Maria SS. - Troina (EN)
  • IRCCS Oasi Maris SS.

External person

Amy Goldstein

  • University of Pittsburgh
  • Neurogenetics and Metabolism
  • University of Pennsylvania

External person

Rosemarie Smith

  • Maine Medical Partners
  • Maine Medical Center

External person

Eniko K. Pivnick

  • University of Tennessee Health Science Center
  • Department of Pediatrics

External person

Jan Liebelt

  • Women's and Children's Hospital Adelaide

External person

Laila A M Selim

  • Cairo University
  • Department of Paediatric Neurology

External person

Chloé Laurencin

  • Hôpital neurologique et neurochirurgical Pierre Wertheimer

External person

Valentina Pinna

  • IRCCS Ospedale Casa Sollievo della Sofferenza - San Giovanni Rotondo (FG)

External person

Mary Louise Freckmann

  • Royal North Shore Hospital

External person

Allison Goetsch

  • Northwestern University

External person

Leyla Tümer

  • Department of Pediatric Metabolism and Nutrition
  • Gazi University

External person

Bruce R. Korf

  • University of Alabama
  • University of Alabama at Birmingham
  • Department of Pediatric Dentistry

External person

Katheryn Grand

  • University of California at Los Angeles

External person

William A. Gahl

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

External person

Lisa G. Riley

  • University of Sydney
  • Discipline of Paediatrics & Child Health
  • Genetic Metabolic Disorders Research Unit
  • The Children's Hospital at Westmead

External person

Fatih Ezgü

  • Department of Pediatric Metabolism and Nutrition
  • Gazi University

External person

Nicole J. Ullrich

  • Harvard University
  • Department of Neurosurgery
  • Department of Neurology
  • Department of Neurology
  • Dana-Farber Cancer Institute
  • Boston Children's Hospital

External person

J. T C Shieh

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

External person

M. E. Pierpont

  • University of Calgary
  • Department of Medical Genetics
  • Department of Medical Genetics
  • University of Minnesota Twin Cities

External person

Brian E. Richardson

  • Oregon Health and Science University
  • Department of Molecular and Medical Genetics

External person

Chin To Fong

  • Clinic of Inherited Metabolic Disease
  • University of Rochester
  • University of Pittsburgh

External person

Christine Fauth

  • Innsbruck Medical University

External person

Derek Wong

  • Howard Hughes Medical Institute
  • University of California at Los Angeles
  • Division of Pediatric Pulmonology

External person

Julian A. Martínez-Agosto

  • Division of Pediatric Pulmonology
  • Department of Human Genetics
  • University of California at Los Angeles
  • Department of Child and Adolescent Psychiatry
  • National Institutes of Health

External person

Sarah A. Sandaradura

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

External person

Daniel Luksic

  • University of Washington
  • Center for Mendelian Genomics
  • University of Washington

External person

Sarah McCabe

  • Oregon Health and Science University

External person

Dong Li

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

External person

Timothy Lynch

  • Conway Inst. Biomol. Biomed. Res.
  • Conway Institute for Biomolecular and Biomedical Research
  • Columbia University
  • Department of Neurology
  • University College Dublin
  • Department of Neurology

External person

Amy Knight Johnson

  • The University of Chicago
  • Department of Human Genetics

External person

Amelle Shillington

  • Cincinnati Children's Hospital Medical Center

External person

Koen L.I. van Gassen

  • Department of Metabolic Diseases
  • Utrecht University

External person

Geraldine Kelly-Mancuso

  • Cincinnati Children's Hospital Medical Center

External person

Yunjia Chen

  • University of Alabama at Birmingham
  • Department of Pediatric Dentistry

External person

Chirag Patel

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

External person

Lisa T. Emrick

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

External person

Michal Tzadok

  • Sheba Medical Center at Tel Hashomer
  • Pediatric Neurology Unit

External person

Conor Fearon

  • University College Dublin

External person

Sarah E. Sheppard

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

External person

Gaetan Poulen

  • Hôpital Gui de Chauliac
  • Montpellier
  • CHU Montpellier

External person

Concepcion Hernández-Chico

  • Hospital Ramon y Cajal
  • Universidad Autónoma de Madrid
  • Department of Genetics
  • Department of Genetics
  • Ramón y Cajal Health Research Institute

External person

Michael Bamshad

  • University of Washington
  • Children's Hospital and Regional Medical Center Seattle
  • Departments of Genome Sciences and Medicine
  • Division of Pulmonary and Sleep Medicine
  • Brotman Baty Institute for Precision Medicine
  • Seattle Children's Hospital

External person

Audrey Schroeder

  • University of Rochester

External person

Anna Znaczko

  • Belfast Health and Social Care Trust

External person

L. Messiaen

  • University Ofalabama
  • University of Alabama at Birmingham
  • University of Alabama
  • Department of Pediatric Dentistry
  • Department of Genetics
  • Department of Genetics
  • Medical Genomics Laboratory
  • Ghent University

External person

Bettina Balint

  • Heidelberg University 
  • University College London

External person

Dina J. Zand

  • Children's National Medical Center
  • Children's Hospital Medical Center
  • The Children's Hospital Medical Center
  • Division of Genetics and Metabolism
  • United States Food and Drug Administration

External person

Beth A. Keena

  • University of Pennsylvania
  • Division of Human Genetics
  • The Children's Hospital of Philadelphia

External person

Agathe Roubertie

  • CHU Montpellier
  • Université de Montpellier
  • Université Montpellier II Montpellier
  • Institut national de la santé et de la recherche médicale

External person

Rhonda E. Schnur

  • 5082 Wood Building
  • University of Wisconsin-Madison
  • Cooper Medical School of Rowan University
  • Cooper Hosp./Univ. Medical Center
  • Cooper Hosp./Univ. Med. Dent. New J.
  • University of Pennsylvania
  • University of Medicine and Dentistry of New Jersey
  • Rowan University
  • Genetics and Dermatology
  • Children's Hospital of Philadelphia
  • School of Medicine
  • Department of Medical Genetics
  • Children's Regional Hospital
  • Division of Genetics
  • Division of Genetics
  • Children's Hospital of Philadelphia
  • Department of Pediatrics and Division of Human Genetics
  • Rutgers - The State University of New Jersey, New Brunswick
  • OPKO Health, Inc.
  • The Children's Hospital of Philadelphia
  • Cooper University Health Care

External person

Tom Callens

  • University of Alabama at Birmingham
  • Department of Pediatric Dentistry

External person

Maria I. Scarano

  • University of Medicine and Dentistry of New Jersey
  • Cooper University Health Care

External person

Philippe Coubes

  • CHU Montpellier
  • School of Medicine
  • Hôpital Gui de Chauliac
  • Montpellier

External person

Pamela Trapane

  • University of Iowa Hospitals and Clinics
  • University of Iowa
  • Children's Hospital of Wisconsin Wauwatosa
  • Departments of Pediatrics
  • Department of Pediatrics
  • Medical College of Wisconsin
  • Stead Family Department of Pediatrics
  • University of Florida

External person

Gustavo Polo

  • Hôpital neurologique et neurochirurgical Pierre Wertheimer

External person

Laura Cif

  • Hôpital Gui de Chauliac
  • Montpellier
  • CHU Montpellier

External person

Sandra Jansen

  • Radboud University Nijmegen

External person

Emilie Chan Seng

  • Hôpital Gui de Chauliac
  • Montpellier
  • CHU Montpellier

External person

Alesha D. Hicks

  • University of Alabama at Birmingham

External person

Dina Marek-Yagel

  • Sheba Medical Center at Tel Hashomer
  • Metabolic Disease Unit

External person

Mario Sa

  • Guy’s and St Thomas’ NHS Foundation Trust

External person

Kim Armfield Uhas

  • Children's Healthcare of Atlanta

External person

Raghda Zaitoun

  • Ain Shams University

External person

Ariane G. Soldatos

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

External person

Sarah Dugan

  • University of Utah

External person

Bo Hoon Lee

  • University of Rochester

External person

Diane Demailly

  • Hôpital Gui de Chauliac
  • Montpellier
  • CHU Montpellier

External person

Mari J. Tokita

  • OPKO Health, Inc.

External person

Diane Doummar

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

External person

Balram Gangaram

  • University of California at San Francisco

External person

Carey McDougall

  • University of Pennsylvania
  • Division of Human Genetics
  • The Children's Hospital of Philadelphia

External person

Zongxiao He

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

External person

Magdalena Koczkowska

  • University of Alabama at Birmingham
  • Department of Pediatric Dentistry

External person

Marica Eoli

  • IRCCS Foundation Rome
  • Unit of Molecular Neuro-Oncology
  • IRCCS Fondazione Istituto Neurologico Carlo Besta - Milano

External person

Frédéric Tran Mau-Them

  • Microbiologie
  • INSERM
  • Université de Bourgogne

External person

Alessandro De Luca

  • University of British Columbia
  • University of British Columbia
  • Dept. of Pathol. and Lab. Medicine
  • Department of Pathology
  • IRCCS Ospedale Casa Sollievo della Sofferenza - San Giovanni Rotondo (FG)
  • British Columbia Cancer Agency

External person

Omar A. Abdul-Rahman

  • University of Mississippi School of Medicine
  • University of Mississippi
  • Division of Medical Genetics
  • Division of Child Neurology
  • University of Nebraska Medical Center

External person

Elizabeth A. Sellars

  • University of Arkansas for Medical Sciences
  • University of Arkansas for Medical Sciences

External person

Rosanna Weksberg

  • University of Toronto
  • University of Oxford
  • Program in Genetics and Genome Biology
  • Division of Clinical and Metabolic Genetics
  • Oxford Parkinson's Disease Centre
  • Department of Pediatrics
  • Divisions of Cell Biology
  • Burdon Sanderson Cardiac Science Centre

External person

Tom Kolar

  • University of Washington
  • Center for Mendelian Genomics
  • University of Washington

External person

Hans T. Bjornsson

  • Landspitali University Hospital
  • Johns Hopkins University
  • University of Iceland

External person

Rotem Greenberg

  • Tel Aviv University

External person

Josue A. Flores-Daboub

  • University of Utah

External person

Lucia Abela

  • University College London

External person

Marco Angelozzi

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

External person

Joel B. Krier

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

External person

Louanne Hudgins

  • Stanford University

External person

Silvia Esposito

  • IRCCS Fondazione Istituto Neurologico Carlo Besta - Milano

External person

Julien Baleine

  • CHU Montpellier

External person

Kailash Bhatia

  • University College London Institute of Neurology
  • London Institute of Neurology
  • University College London
  • Department of Molecular Neuroscience and Reta Lila Weston Institute
  • Sobell Department of Motor Neuroscience and Movement Disorders
  • Sobell Department of Motor Neuroscience and Movement Disorders

External person

Eva B. Forman

  • Children’s Health Ireland at
  • Children's University Hospital, Dublin

External person

Sanaz Attaripour Isfahani

  • National Institutes of Health

External person

Nada Derar

  • King Faisal Specialist Hospital and Research Centre

External person

Elizabeth L. Fieg

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

External person

Thao Pham

  • Oregon Health and Science University
  • Department of Pathology
  • Department of Neurology

External person

Claudio M. de Gusmão

  • Harvard University
  • Boston Children's Hospital

External person

Karynne E. Patterson

  • University of Washington
  • Dept. of Genome Science/Medicine
  • Center for Mendelian Genomics
  • Department of Genome Sciences
  • Department of Genome Sciences
  • University of Washington

External person

Juha M. Kerätär

  • University of Oulu
  • Faculty of Biochemistry and Molecular Medicine and Biocenter Oulu

External person

Eric Haan

  • SA Pathology
  • Robinson Institute
  • University of Adelaide
  • Royal Adelaide Hospital

External person

Mario Bengala

  • University of Rome Tor Vergata

External person

Margaret H. Harr

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

External person

Fowzan S. Alkuraya

  • King Saud University
  • King Faisal Specialist Hospital and Research Centre
  • Alfaisal University
  • Department of Pediatrics
  • Division of Sleep Medicine
  • Department of Anatomy and Cell Biology
  • Harvard University
  • Department of Genetics
  • Department of Genetics
  • Department of Anatomy and Cell Biology
  • Brigham and Women’s Hospital

External person

Jacqueline Harris

  • Kennedy Krieger Institute
  • Johns Hopkins University

External person

Gaetan Lesca

  • Université de Lyon
  • Universite Claude Bernard Lyon 1
  • CHU-Lyon Sud

External person

Shay Ben-Shachar

  • Baylor College of Medicine
  • Tel Aviv Sourasky Medical Center
  • Dept of Molecular and Human Genetics
  • The Genetic Institute
  • Tel Aviv University

External person

Vickie Zurcher

  • Cleveland Clinic Foundation

External person

Michelle Sahagian

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

External person

Michael F. Wangler

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

External person

Lola K. Clarkson

  • Greenwood Genetics Center

External person

Kathryn Matthews

  • Oregon Health and Science University

External person

Marie Hully

  • Université Paris 5
  • Université Paris Cité

External person

Louise Amlie-Wolf

  • Alfred I. duPont Hospital for Children

External person

Andrew K. Sobering

  • St. George's University Grenada

External person

Asif Doja

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

External person

Emma Bedoukian

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

External person

Fanny Cortes

  • Clínica Las Condes
  • Clinica Las Condes

External person

Thomas Roujeau

  • Hôpital Gui de Chauliac
  • CHU Montpellier

External person

Lesley K. McGregor

  • Women's and Children's Hospital Adelaide

External person

Frank Mentch

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

External person

Cheryl Cytrynbaum

  • University of Toronto
  • Hospital for Sick Children
  • Division of Clinical and Metabolic Genetics

External person

Jennifer Chin

  • University of Washington
  • University of Washington

External person

A. Micheil Innes

  • University of Calgary

External person

Ian M. Campbell

  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • University of Pennsylvania
  • The Children's Hospital of Philadelphia

External person

Kristen M. Wigby

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

External person

Lindsay C. Reese

  • Department of Neuroscience and Cell Biology
  • Oregon Health and Science University
  • University of Texas Medical Branch at Galveston
  • Department of Neuroscience and Cell Biology
  • Department of Surgery
  • Department of Pathology

External person

Christine Coubes

  • CHU Montpellier

External person

Laurence Faivre

  • Centre Georges François Leclerc
  • Univ. de Bourgogne
  • Hôpital Necker Enfants Malades
  • Centre Georges-François Leclerc
  • Université de Bourgogne
  • Université Paris 5
  • Centre de Lutte Contre le Cancer Georges François Leclerc
  • Centre de Génétique
  • Centre d'Investigation Clinique - Épidémiologie Clinique/Essais Cliniques
  • Dept. de Genet./INSERM U393
  • Microbiologie
  • Hôpital d'Enfants CHU Dijon
  • Université Paris Cité
  • INSERM

External person

Andreea Nissenkorn

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

External person

Laura Dosa

  • Azienda Ospedaliero Universitaria Meyer

External person

Tamara L. Haygarth

  • Carolinas HealthCare System
  • Carolinas HealthCare System

External person

Ali Fatemi

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

External person

Kishore R. Kumar

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

External person

Maria Christina Digilio

  • Bambino Gesù Pediatric Hospital
  • IRCCS Ospedale pediatrico Bambino Gesù - Roma

External person

James T. Bennett

  • University of Washington
  • Department of Pediatrics
  • Department of Medicine
  • Division of Pulmonary and Sleep Medicine
  • Seattle Children's Hospital

External person

Dara Tolchin

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

External person

Mayra Martinez Ojeda

  • Harvard University
  • Boston Children's Hospital

External person

Isabelle Maystadt

  • Institute of Pathology and Genetics (IPG)
  • Center for Human Genetics

External person

N. Sharma

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

External person

Harutomo Hasegawa

  • King's Health Partners
  • Guy’s and St Thomas’ NHS Foundation Trust

External person