• Source: Scopus
20132021

Research activity per year

If you made any changes in Pure these will be visible here soon.

Network

Vandana Shashi

  • Duke University
  • National Institutes of Health
  • Duke Hospital

External person

Jenifer Lavigne

  • Carolinas HealthCare System
  • Levine Children's Hospital at Carolina Healthcare System

External person

Mary Ellen McDonough

  • Department of Pediatrics
  • Harvard University

External person

Angela Lombardo

  • Division of Hematology
  • Harvard University
  • Division of Gastroenterology and Nutrition

External person

Nicole Baumer

  • Harvard University

External person

Sheila Cannon

  • University of Pittsburgh

External person

Susan Sparks

  • University of Minnesota Twin Cities
  • Carolinas HealthCare System
  • Carolinas Medical Center
  • Levine Children's Hospital at Carolina Healthcare System

External person

Jordan Lyerly

  • Carolinas HealthCare System
  • Levine Children's Hospital at Carolina Healthcare System

External person

Wendy K. Chung

  • Columbia University
  • Membership of the SPARK Consortium Members is Provided in the Acknowledgements
  • Simons Foundation
  • The Pediatric Neuromuscular Clinical Research Network

External person

Alison Schwartz

  • Department of Pediatrics
  • Harvard University

External person

Boris Keren

  • Département de Génétique
  • Assistance publique – Hôpitaux de Paris
  • AP-HP
  • Sorbonne Université
  • Institut national de la santé et de la recherche médicale
  • CNRS UMR 7225
  • UPMC Univ. Paris 06

External person

Angela E. Lin

  • National Birth Defects Center
  • Harvard University
  • Genetics and Teratology Unit
  • Department of Pediatrics
  • National Birth Defects Center
  • Center for Human Genetic Research
  • MassGeneral Hospital for Children

External person

Kathryn Berrier

  • Duke University
  • Division of Medical Genetics

External person

Campbell Brasington

  • Carolinas HealthCare System
  • Levine Children's Hospital at Carolina Healthcare System

External person

Brian G. Skotko

  • Department of Pediatrics
  • Harvard University

External person

Lauren Voelz

  • Division of Hematology
  • Harvard University
  • Division of Gastroenterology and Nutrition

External person

Cyril Mignot

  • AP-HP
  • Sorbonne Université
  • CNRS UMR 7225
  • Institut national de la santé et de la recherche médicale
  • Centre de Référence Déficiences Intellectuelles de Causes Rares
  • UPMC Univ. Paris 06
  • Hôpital Armand Trousseau

External person

Eric J.G. Sijbrands

  • Department of Internal Medicine
  • Netherlands Genomics Initiative
  • Erasmus University Rotterdam
  • Department of Medicine
  • Diabetes Unit
  • Massachusetts Institute of Technology
  • Center for Human Genetic Research
  • Harvard University
  • Department of Internal Medicine
  • Department of Internal Medicine
  • Département de Génétique Médicale
  • Department of Epidemiology
  • University of Lausanne
  • Department of Epidemiology
  • Department of Internal Medicine
  • Erasmus Medical College
  • Department of Internal Medicine
  • Netherlands Genomics Initiative-Sponsored Netherlands Consortium for Healthy Aging
  • Ontario Institute for Cancer Research
  • Department of Medical Genetics
  • Service of Medical Genetics
  • Channing Laboratory
  • Program in Medical and Population Genetics
  • Broad Institute
  • Department of Medicine
  • Diabetes Research Center (Diabetes Unit)
  • Center for Genomic Medicine and Cardiovascular Research Center
  • Metabolism Initiative and Program in Medical and Population Genetics
  • Department of Medicine
  • Division of Rheumatology
  • Center for Human Genetic Research and Diabetes Research Center (Diabetes Unit)
  • Department of Medicine
  • Cardiovascular Research Center
  • Department of Medicine
  • Program in Medical and Population Genetics
  • Metabolism Initiative
  • Medical and Population Genetics Program
  • Department of Medicine
  • Analytic and Translational Genetics Unit
  • Division of Hematology/Oncology
  • Department of Medicine
  • Department of Pediatrics
  • Metabolism Program
  • Department of Molecular Biology
  • Diabetes Research Center (Diabetes Unit)
  • Lund University
  • Department of Clinical Sciences

External person

Al Ozonoff

  • Harvard University

External person

Kishore Vellody

  • University of Pittsburgh

External person

Christianne Sharr

  • Department of Pediatrics
  • Harvard University

External person

Kara Stock-Guild

  • Division of Hematology
  • Harvard University
  • Division of Gastroenterology and Nutrition

External person

Emily Davidson

  • Division of Hematology
  • Harvard University
  • Division of Gastroenterology and Nutrition

External person

Blythe Crissman

  • Duke University
  • Division of Medical Genetics

External person

Nicholas Stong

  • Institute for Genomic Medicine
  • Columbia University
  • National Institutes of Health
  • Institute for Genomic Medicine
  • New York University
  • Wistar Institute
  • University of Pennsylvania
  • Genetic Diagnostic Laboratory
  • Brystol Myers Squibb

External person

Katy Barwick

  • University College London

External person

Jennifer Friedman

  • University of California at San Diego
  • Multimodal Imaging Laboratory
  • Rady Children's Hospital
  • Department of Neurosciences and Pediatrics UCSD/Rady Children’s Hospital San Diego
  • Rady Children’s Institute for Genomic Medicine

External person

Gabriella Horvath

  • Division of Biochemical Diseases
  • Childrens Hospital
  • University of British Columbia

External person

Ashley C. Taylor

  • University of Oklahoma

External person

Giuseppe Zampino

  • Istituto di Pediatria
  • Catholic University of the Sacred Heart
  • Center for Rare Disease and Congenital Defects
  • Fondazione Policlinico Universitario Agostino Gemelli IRCCS

External person

Pia Zacher

  • The Saxon Epilepsy Center Kleinwachau

External person

Angus Clarke

  • Betsi Cadwaladr University Health Board
  • Institute of Medical Genetics
  • Cardiff & Vale University Health Board
  • Department of Clinical Genetics
  • Cardiff University
  • University Hospital of Wales

External person

Carsten G. Bönnemann

  • Division of Neurology
  • Children's Hospital of Philadelphia
  • University of Pennsylvania
  • National Institutes of Health
  • Department of Neurology
  • Neuromuscular and Neurogenetic Disorders of Childhood Section
  • Division of Neurology
  • Division of Neurology
  • Division of Neurology
  • Departments of Neurology and Pediatrics

External person

Joseph T.C. Shieh

  • University of California at San Francisco

External person

Jamal Ghoumid

  • Université de Lille
  • CHU Lille

External person

Holly E. Babcock

  • Children’s National Hospital

External person

Emanuele Agolini

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

External person

Eva H. Brilstra

  • Department of Genetics
  • Utrecht University

External person

Alyssa Gates

  • Kaiser Permanente

External person

Emma Hobson

  • Leeds Teaching Hospitals NHS Trust

External person

Michaela V. Bonfert

  • Ludwig Maximilian University of Munich

External person

Marie José van den Boogaard

  • Department of Genetics
  • Utrecht University

External person

Kathleen A. Leppig

  • Kaiser Permanente
  • Genetic Services
  • Group Health Cooperative

External person

Johan Lundgren

  • Lund University

External person

Rolph Pfundt

  • Department of Human Genetics
  • Radboud University Nijmegen
  • Department of Human Genetics
  • Donders Institute for Brain
  • Radboudumc

External person

Alba Sanchis-Juan

  • University of Cambridge
  • Cambridge University Hospitals NHS Foundation Trust

External person

Heather McLaughlin

  • GeneDX Inc
  • Harvard University
  • National Institutes of Health
  • Partners HealthCare
  • Invitae Corporation

External person

Patrick Devine

  • University of California at San Francisco
  • University of California at San Diego

External person

Caroline Nava

  • Département de Génétique
  • Assistance publique – Hôpitaux de Paris
  • Institut national de la santé et de la recherche médicale
  • AP-HP
  • Sorbonne Université
  • Institut du Cerveau et de la Moelle Épinière
  • CNRS UMR 7225
  • UPMC Univ. Paris 06

External person

Heather C. Mefford

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

External person

Ibrahim Elsharkawi

  • Department of Pediatrics
  • Harvard University
  • Washington University St. Louis

External person

Virgina Lee

  • University of California at San Francisco

External person

Jamie L. Fraser

  • George Washington University
  • Children's National Medical Center
  • Children’s National Hospital

External person

Tommy I. Stödberg

  • Karolinska Institutet
  • Neuropediatric Unit

External person

Chiara Klöckner

  • Leipzig University

External person

F. Lucy Raymond

  • University of Cambridge
  • Wellcome Sanger Institute
  • Cambridge University Hospitals NHS Foundation Trust

External person

Sandra Donkervoort

  • National Institutes of Health
  • Neuromuscular and Neurogenetic Disorders of Childhood Section

External person

Anne Slavotinek

  • University of California at San Francisco
  • Department of Pediatrics

External person

Jennifer A. Sullivan

  • Department of Pediatrics
  • Duke University
  • National Institutes of Health
  • Department of Pediatrics
  • Duke Hospital

External person

Richard H. van Jaarsveld

  • Utrecht University

External person

Saskia N. van der Crabben

  • University of Amsterdam

External person

Priya S. Kishnani

  • Department of Pediatrics
  • Duke University

External person

Julian Sampson

  • Betsi Cadwaladr University Health Board
  • Cardiff & Vale University Health Board
  • Cardiff University
  • University Hospital of Wales

External person

Dewi P. Bakker

  • University of Amsterdam

External person

Amy McTague

  • University College London

External person

Mohamad A. Mikati

  • Duke University
  • Harvard University
  • Medical College of Wisconsin

External person

Daniel J. Wegner

  • Edward Mallinckrodt Departments of Pediatrics and Pharmacology
  • Washington University St. Louis
  • Division of Newborn Medicine
  • Edward Mallinckrodt Department of Pediatrics
  • Department of Pediatrics
  • Department of Pediatrics
  • University of Washington
  • Department of Pediatrics
  • Division of Neonatology
  • Washington university
  • Edward Mallinckrodt Department of Pediatrics

External person

Jessica Van Ziffle

  • University of California at San Francisco

External person

Heinrich Sticht

  • Institute of Biochemistry
  • Friedrich-Alexander University Erlangen-Nürnberg
  • Friedrich-Alexander-UniversitätErlangen-Nürnberg
  • Emil-Fischer Center

External person

Manju A. Kurian

  • University College London
  • Developmental Neurosciences
  • Department of Developmental Neurosciences

External person

Emily Fassi

  • Department of Pediatrics
  • Washington University St. Louis

External person

Koen L.I. van Gassen

  • Utrecht University
  • Department of Metabolic Diseases
  • Department of Genetics

External person

Marie T. McDonald

  • Duke University

External person

Bernt Popp

  • Leipzig University

External person

Corinne Collet

  • Université Paris 7
  • Université de Paris

External person

Dean G. Phelan

  • University of Melbourne
  • Department of Paediatrics
  • Murdoch Children's Research Institute

External person

Marie T. McDonald

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

External person

Alan H. Beggs

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

External person

Kyle Retterer

  • GeneDX Inc

External person

J. C. Hodge

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

External person

Janice Baker

  • Children's Hospital of Minnesota

External person

Cara Skraban

  • University of Pennsylvania

External person

A. Chaubey

  • Greenwood Genetics Center

External person

Jennifer E. Posey

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

External person

Béryl Laplace-Builhé

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

External person

Marie Thçrèse Bihoreau

  • ComUE Paris-Saclay
  • Université Paris-Saclay
  • National Genotyping Center

External person

Ellen S. Regalado

  • Department of Internal Medicine
  • University of Texas Health Science Center at Houston
  • Department of Internal Medicine
  • Department of Internal Medicine and Neurosurgery
  • Division of Clinical and Translational Sciences
  • Department of Internal Medicine
  • Division of Medical Genetics
  • University of Texas at Houston Health Science Centre
  • University of Texas at Austin

External person

Marie Vincent

  • Service de Génétique Médicale
  • Université de Nantes
  • CHU de Nantes
  • Nantes University Hospital

External person

F. Bartel

  • Greenwood Genetics Center

External person

Hua Li

  • Department of Molecular Genetics and Microbiology
  • University of Florida

External person

Arjan P.M. de Brouwer

  • Radboud University Nijmegen

External person

D. B. Everman

  • Greenwood Genetics Center

External person

Merel Van Maarle

  • Department of Clinical Genetics
  • University of Amsterdam

External person

Rachel Hachen

  • Department of Pediatrics
  • University of Pennsylvania

External person

Farida Djouad

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

External person

S. A. Skinner

  • Greenwood Genetics Center
  • J.C. Self Res. Inst. of Hum. Genet.
  • Membership of the SPARK Consortium Members is Provided in the Acknowledgements
  • Greenwood Genetic Center

External person

Tojo Nakayama

  • Harvard University

External person

Reza Asadollahi

  • Institute of Medical Genetics
  • radiz – “Rare Disease Initiative Zurich
  • University of Zurich
  • University of Zurich

External person

Daniel E. Pineda-Alvarez

  • Now at Invitae
  • GeneDX Inc
  • Medical Genetics Branch

External person

Nikoleta Argyrou

  • Harvard University

External person

Amanda Buchanan

  • Tufts University
  • Brandeis University

External person

Peter Turnpenny

  • Royal Devon & Exeter NHS Foundation Trust

External person

Rick M. Tankard

  • Department of Medical Biology
  • University of Melbourne
  • Walter and Eliza Hall Institute of Medical Research

External person

Gert Mortier

  • Center for Human Genetics
  • Ghent University
  • University of Antwerp
  • Department of Medical Genetics

External person

Cari Dowling

  • Molecular Neurobiology Laboratory
  • Salk Institute for Biological Studies

External person

Nicole Corsten-Janssen

  • University of Groningen
  • Department of Genetics

External person

Y. S. Zou

  • Pathology Assoc. Medical Laboratories

External person

Linda P. Manwaring

  • Department of Pediatrics
  • Washington University St. Louis
  • Department of Pediatrics
  • Division of Laboratory and Genomic medicine
  • Department of Pediatrics
  • Department of Pediatrics

External person

Guillaume Captier

  • Chirurgie plastique infantile Montpellier

External person

Daniel P. Ryan

  • Harvard University
  • Department of Pediatric Surgery
  • Northwestern University

External person

Tjitske Kleefstra

  • Department of Human Genetics
  • Radboud University Nijmegen
  • Donders Institute for Brain
  • Department of Human Genetics
  • Department of Human Genetics
  • Donders Institute for Brain

External person

David Geneviève

  • Institut national de la santé et de la recherche médicale
  • Hôpital Arnaud de Villeneuve
  • CHU Montpellier
  • Université de Montpellier

External person

Eric Richard

  • Institut national de la santé et de la recherche médicale
  • ICM Institut Régional du Cancer

External person

Salman Kirmani

  • Mayo Clinic Rochester, MN
  • Aga Khan University
  • Department of Medical Genetics

External person

Paranchai Boonsawat

  • Institute of Medical Genetics
  • radiz – “Rare Disease Initiative Zurich
  • University of Zurich
  • University of Zurich

External person

Victoria Suslovitch

  • Harvard University

External person

André Reis

  • Institute of Human Genetics
  • Friedrich-Alexander University Erlangen-Nürnberg

External person

Mirna Mustapha

  • Stanford University
  • Department of Otolaryngology - Head and Neck Surgery

External person

Koen L.I.van Gassen

  • Utrecht University

External person

Leonard B. Kaban

  • Harvard University

External person

Sureni V. Mullegama

  • University of California at Los Angeles
  • Department of Human and Molecular Genetics
  • Virginia Commonwealth University

External person

Ladonna L. Immken

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

External person

Anne Boland

  • Université Paris-Saclay
  • Centre National de Recherche en Génomique Humaine (CNRGH)
  • CEA
  • ComUE Paris-Saclay
  • Centre National de Recherche en Génomique Humaine
  • CEA-Institute de Génomique

External person

Jean Baptiste Rivière

  • Université de Bourgogne
  • Children's Hospital and Regional Medical Center Seattle
  • Université de Bourgogne
  • Cystic Fibrosis Foundation Therapeutics Development Network Coordinating Center
  • McGill University
  • UF Innovation en diagnostic genomique des maladies rares
  • INSERM U1231 'Lipides Nutrition Cancer'

External person

Wei Shern Lee

  • University of Melbourne
  • Department of Paediatrics
  • Murdoch Children's Research Institute

External person

James F. Gusella

  • Molecular Neurogenetics Unit
  • Harvard University
  • Molecular Neurogenetics Unit
  • Department of Neurology
  • House Ear Institute
  • Center for Human Genetic Research
  • Department of Genetics
  • Department of Neurology
  • Program in Medical and Population Genetics
  • Broad Institute

External person

Walton Nephi

  • Department of Pediatrics
  • Washington University St. Louis

External person

Joseph Shen

  • Chinese Academy of Medical Sciences
  • Department of Orthopedic Surgery
  • Department of Medical Genetics and Metabolism
  • Children's Hospital of Central California
  • Department of Molecular and Human Genetics
  • Baylor College of Medicine
  • Peking Union Medical College

External person

Judith Tsipis

  • Brandeis University

External person

Muhammad Yasir Zahoor

  • University of Veterinary and Animal Sciences, Lahore, Pakistan

External person

Martin B. Delatycki

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

External person

Charlotte W. Ockeloen

  • Donders Institute for Brain
  • Radboud University Nijmegen
  • Department of Human Genetics

External person

B. Dupont

  • Greenwood Genetics Center

External person

R. R. Hanson

  • Mayo Clinic Health System

External person

Marisa Vineyard

  • Department of Pediatrics
  • Washington University St. Louis
  • Departments of Pediatrics and Genetics
  • Department of Pediatrics

External person

Hermann Josef Lüdecke

  • University of Duisburg-Essen
  • Heinrich Heine University Düsseldorf
  • Institute of Human Genetics

External person

Jean François Deleuze

  • Université Paris-Saclay
  • Centre National de Recherche en Génomique Humaine (CNRGH)
  • CEA
  • ComUE Paris-Saclay
  • Commissariat à l’Energie Atomique
  • Centre National de Recherche en Génomique Humaine
  • Fondation Jean Dausset - CEPH
  • CEA-Institute de Génomique

External person

George E. Tiller

  • Dept. of Pathol. and Lab. Medicine
  • University of Rochester
  • Vanderbilt University
  • Division of Medical Genetics
  • Kaiser Permanente

External person

Julian L. Ambrus

  • SUNY Buffalo

External person

Ellen van Binsbergen

  • Utrecht University

External person

Bert B.A.de Vries

  • Radboud University Nijmegen

External person

D. Keelean-Fuller

  • University of North Carolina at Chapel Hill
  • Depts. of Pediatrics and Genetics

External person

Jennifer Williams

  • Medical Genomics Laboratory
  • University of Alabama at Birmingham

External person

Orly Elpeleg

  • Monique and Jacques Roboh Department of Genetic Research
  • Hadassah University Medical Centre
  • Bonei Olam
  • Center for Rare Jewish Genetic Disorders
  • Hebrew University of Jerusalem
  • Hebrew University Hadassah Medical School

External person

Jean Louis Laplanche

  • Université Paris 7
  • Université de Paris

External person

Muhammad Iqbal

  • Islamia University

External person

Sarah H. Elsea

  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • Department of Pediatrics
  • Department of Human and Molecular Genetics
  • Virginia Commonwealth University

External person

Steffen Syrbe

  • Department of Women and Child Health
  • Leipzig University
  • Heidelberg University 

External person

Martina Rinelli

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

External person

Tom Callens

  • Medical Genomics Laboratory
  • University of Alabama at Birmingham

External person

Jorune Balciuniene

  • University of Pennsylvania

External person

Christina Botti

  • Department of Pediatrics
  • Rutgers - The State University of New Jersey, New Brunswick
  • Rutgers Robert Wood Johnson Medical Group

External person

Robert Olaso

  • Université Paris-Saclay
  • ComUE Paris-Saclay
  • Centre National de Recherche en Génomique Humaine
  • CEA
  • CEA-Institute de Génomique

External person

Stefan Mundlos

  • Institut für Medizinische Genetik
  • Charité – Universitätsmedizin Berlin

External person

Yunhong Wu

  • Shanxi Children’s Hospital

External person

Wen Hann Tan

  • Division of Genetics and Genomics
  • Harvard University
  • Division of Genetics

External person

Bruria Ben-Zev

  • Pediatric Neurology
  • Edmond and Lily Safra Children's Hospital

External person

Richard J. Leventer

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

External person

Cynthia S. Gubbels

  • Broad Institute
  • Division of Genetics and Genomics
  • Harvard University

External person

Rami Abou Jamra

  • Institute of Human Genetics
  • Centogene AG
  • Leipzig University
  • University of Bonn

External person

Martin Broly

  • Université de Nantes

External person

V. Reid Sutton

  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • Dept. of Molec. and Human Genetics
  • Department of Molecular and Human Genetics
  • Baylor Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Baylor Genetics, LLC
  • Texas Children's Hospital Center for Vaccine Development

External person

Thomas Courtin

  • AP-HP
  • Sorbonne Université

External person

Michael B. Bober

  • Alfred I. duPont Hospital for Children

External person

Boxun Zhao

  • Harvard University

External person

Marleen E.H. Simon

  • Utrecht University

External person

Misti Williams

  • LewisGale Regional Health System

External person

Cynthia C. Morton

  • Department of Obstetrics, Gynecology and Reproductive Biology
  • Department of Pathology
  • Harvard University
  • Program in Medical and Population Genetics
  • Broad Institute
  • Department of Obstetrics

External person

Douglas R. Stewart

  • Clinical Genetics Branch
  • National Institutes of Health
  • Division of Cancer Epidemiology and Genetics
  • Children's Tumor Foundation
  • Washington University St. Louis

External person

Wendy Chung

  • Laboratory of DNA Sequencing and Chemical Biology
  • Columbia University
  • Departments of Pediatrics and Medicine
  • Division of Cardiology
  • Department of Pediatrics
  • Department of Pediatrics and Medicine
  • Division of Pediatric Gastroenterology
  • University of North Carolina at Chapel Hill
  • Department of Pediatrics
  • Spinal Muscular Atrophy Foundation
  • Department of Pediatrics and Medicine
  • Department of Medicine
  • Department of Medicine
  • New York University
  • Department of Pediatrics
  • Simons Foundation

External person

Kevin Uguen

  • Université de Bretagne Occidentale
  • CHU de Brest

External person

Kimberly A. Aldinger

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

External person

Casie A. Genetti

  • Harvard University

External person

Hilde Brems

  • Department of Human Genetics
  • KU Leuven
  • Center for Human Genetics

External person

William Reardon

  • Dept of Clinical Genetics
  • Our Lady's Hospital for Sick Children

External person

Joke B.G.M. Verheij

  • University of Groningen
  • Department of Genetics

External person

Leigh Anne Autullo

  • Weisskopf Child Evaluation Center
  • University of Louisville

External person

Susan Brooks

  • Department of Pediatrics
  • Rutgers - The State University of New Jersey, New Brunswick
  • Rutgers Robert Wood Johnson Medical Group

External person

Ada Hamosh

  • Department of Pediatrics
  • McKusick Nathans Institute of Genetic Medicine
  • Johns Hopkins University

External person

Florence Moreau-Lenoir

  • ORL CH d’Evreux

External person

Polakit Teekakirikul

  • Department of Genetics
  • Harvard University

External person

David Miller

  • Harvard University
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Laboratory Medicine
  • Division of Genetics and Genomics

External person

Christopher Gray

  • University of Pennsylvania

External person

Sébastien Küry

  • CHU de Nantes
  • Université de Nantes
  • L'institut du Thorax
  • Cancer Council Victoria
  • Nantes University Hospital

External person

Aubrie Soucy

  • Harvard University
  • Membership of the SPARK Consortium Members is Provided in the Acknowledgements

External person

Ronald V. Lacro

  • Harvard University
  • Department of Cardiology

External person

Ines Brosse

  • Heidelberg University 

External person

Yufeng Shen

  • Departments of Biomedical Informatics and Systems Biology
  • Columbia University
  • Department of Biomedical Informatics
  • Department of Systems Biology
  • JP Sulzberger Columbia Genome Center
  • Baylor College of Medicine
  • Dept. of Molec. and Human Genetics
  • Human Genome Sequencing Center
  • Department of Applied Mathematics and Applied Physics
  • Department of Systems Biology
  • New York University
  • Department of Biomedical Informatics
  • Membership of the SPARK Consortium Members is Provided in the Acknowledgements

External person

June Ortenberg

  • McGill University
  • Department of Pediatrics
  • Department of Medical Genetics

External person

Leah Hecht

  • Metabolism Program
  • Harvard University

External person

Caleb P. Bupp

  • Spectrum Health

External person

Florence Apparailly

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

External person

Maria Kibaek

  • University of Southern Denmark
  • Department of Pediatrics

External person

Lilian L. Cohen

  • Cornell University

External person

Michael E. Talkowski

  • Center for Human Genetic Research
  • Department of Genetics
  • Harvard University
  • Department of Neurology
  • Program in Medical and Population Genetics
  • Broad Institute
  • Department of Neurology
  • Center for Mendelian Genomics
  • Department of Neurology

External person

Pankaj B. Agrawal

  • Harvard University
  • Divisions of Genetics and Genomics and Newborn Medicine
  • Manton Center for Orphan Disease Research
  • Department of Pediatrics
  • Division of Newborn Medicine
  • Division of Genetics and Genomics
  • Harvard

External person

Iqra Ghulam Rasool

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

External person

Giulia Pascolini

  • University of Rome La Sapienza

External person

Ana Maria Rosales

  • Harvard University

External person

Vidya Krishnamurthy

  • Pediatrics & Genetics

External person

Lance H. Rodan

  • National Institutes of Health
  • UDN Coordinating Center
  • Harvard University
  • Division of Genetics and Genomics
  • Department of Pediatrics
  • Harvard

External person

Katelyn Payne

  • Riley Hospital for Children
  • Indiana University-Purdue University Indianapolis
  • Department of Neurology
  • Indiana University Health
  • Indiana University Bloomington

External person

Gaëtan Lesca

  • Hospices civils de Lyon
  • Universite Claude Bernard Lyon 1
  • Université de Lyon
  • Department of Medical Genetics
  • Institut national de la santé et de la recherche médicale
  • Centre de Recherche en Neurosciences de Lyon
  • Lyon University Hospital
  • CHU-Lyon Sud

External person

Joshua J. Murphy

  • Department of Pediatrics
  • Rush University
  • Washington University St. Louis
  • Department of Pediatrics
  • Section of Cardiology
  • Department of Pediatrics
  • Department of Pediatrics

External person

Sarah E.M. Stephenson

  • University of Melbourne
  • Department of Paediatrics
  • Murdoch Children's Research Institute
  • Royal Children's Hospital
  • Royal Children's Hospital, Melbourne

External person

Margaret R. Wallace

  • Department of Medical Genetics
  • Indiana University-Purdue University Indianapolis
  • Department of Molecular Genetics and Microbiology
  • University of Florida
  • Departments of Human Genetics
  • University of Michigan, Ann Arbor
  • Department of Internal Medicine
  • Department of Molecular Genetics and Microbiology
  • Internal Medicine

External person

Kathleen Claes

  • Ghent University

External person

Alice Poisson

  • Centre Hospitalier le Vinatier
  • Lyon University Hospital

External person

Paul J. Lockhart

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

External person

Elyse B. Mitchell

  • Cytogenetics Laboratory
  • Mayo Clinic Rochester, MN
  • Department of Laboratory Medicine and Pathology

External person

Vincent Gatinois

  • Hôpital Arnaud de Villeneuve
  • CHU Montpellier
  • Université de Montpellier

External person

Serge Melancon

  • McGill University
  • Department of Pediatrics
  • Department of Medical Genetics

External person

Gordon Gowans

  • Weisskopf Child Evaluation Center
  • University of Louisville
  • Department of Pediatrics

External person

Anita Rauch

  • Institute of Medical Genetics
  • radiz – “Rare Disease Initiative Zurich
  • University of Zurich
  • Institute of Human Genetics
  • Friedrich-Alexander University Erlangen-Nürnberg
  • University of Zurich

External person

Megan T. Cho

  • GeneDX Inc
  • National Institutes of Health
  • Columbia University
  • Department of Pediatrics
  • New York University
  • Department of Pediatrics

External person

Claude Férec

  • Génomique Fonctionnelle et Biotechnologies
  • Université de Bretagne Occidentale
  • CHU de Brest

External person

Elizabeth Siqveland

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

External person

Alicia G. Gomes

  • Medical Genomics Laboratory
  • University of Alabama at Birmingham

External person

Cynthia M. Powell

  • Division of Pediatric Pulmonology
  • University of North Carolina at Chapel Hill
  • Department of Genetics
  • Department of Pathology
  • Washington University St. Louis
  • Depts. of Pediatrics and Genetics

External person

Jessica B. McCannon

  • Department of Pediatrics
  • Harvard University

External person

Dianna M. Milewicz

  • Department of Internal Medicine
  • University of Texas Health Science Center at Houston
  • Department of Internal Medicine
  • Department of Medicine
  • University of Texas at Austin
  • Department of Internal Medicine and Neurosurgery
  • Division of Clinical and Translational Sciences
  • Department of Internal Medicine
  • Department of Neurosurgery
  • Department of Internal Medicine
  • Texas Heart Institute
  • Department of Cardiothoracic and Vascular Surgery
  • Department of Medical Genetics
  • Department of Internal Medicine
  • Department of Internal Medicine
  • Memorial Hermann Heart and Vascular Institute
  • Division of Medical Genetics
  • University of Texas at Houston Health Science Centre

External person

Diego Martinelli

  • IRCCS Ospedale pediatrico Bambino Gesù - Roma

External person

Rebecca Spillmann

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

External person

Dagmar Wieczorek

  • Institut für Humangenetik
  • University of Duisburg-Essen
  • Heinrich Heine University Düsseldorf
  • Institute of Human Genetics

External person

Lisa M. Prock

  • Membership of the SPARK Consortium Members is Provided in the Acknowledgements
  • Department of Pediatrics
  • Harvard University
  • Division of Gastroenterology and Nutrition

External person

Antonio Novelli

  • Genetics and Rare Diseases Research Division
  • IRCCS Ospedale pediatrico Bambino Gesù - Roma

External person

Rossella Capolino

  • IRCCS Ospedale pediatrico Bambino Gesù - Roma
  • Department of Pediatrics

External person

A. Goldenberg

  • Department of Genetics
  • CHU Hôpitaux de Rouen
  • Normandie Université
  • Department of Genetics and CNR-MAJ
  • Université de Rouen
  • Normandie Université

External person

Elise Fiala

  • Department of Pediatrics
  • Washington University St. Louis

External person

Sebastiaan W.A. Nij Bijvank

  • Department of Obstetrics and Gynaecology
  • Isala Clinics

External person

C. Tapp

  • Outpatient Behavioral Health

External person

Martin A. Mensah

  • Institut für Medizinische Genetik
  • Charité – Universitätsmedizin Berlin

External person

Robert A. Saul

  • Greenwood Genetics Center

External person

Carrie Hanscom

  • Center for Human Genetic Research
  • Harvard University

External person

Anne Blomhoff

  • University of Oslo

External person

Ludwine M. Messiaen

  • University of Alabama at Birmingham
  • Department of Genetics
  • Department of Genetics
  • University of Alabama
  • Medical Genomics Laboratory

External person

Jill R. Murrell

  • Department of Pathology and Laboratory Medicine
  • Department of Medical and Molecular Genetics
  • Indiana University-Purdue University Indianapolis
  • Center for Immunobiology
  • Depts. of Pediat. and Molec. Genet.
  • Department of Pathology and Laboratory Medicine
  • Indiana University Bloomington
  • University of Pennsylvania

External person

Nicola J. Allen

  • Molecular Neurobiology Laboratory
  • Salk Institute for Biological Studies

External person

Carolyn D. Applegate

  • McKusick Nathans Institute of Genetic Medicine
  • Johns Hopkins University

External person

Mathilde Nizon

  • Université de Nantes
  • Service de Génétique Médicale
  • CNRS
  • CHU de Nantes
  • Nantes University Hospital

External person

Ganka Douglas

  • GeneDX Inc

External person

Amy Sachs

  • Tufts University

External person

V. Pillalamarri

  • Center for Human Genetic Research
  • Harvard University

External person

William B. Dobyns

  • Center for Integrative Brain Research
  • Children's Hospital and Regional Medical Center Seattle
  • Departments of Neurology and Pediatrics
  • University of Washington
  • Department of Pediatrics
  • Department of Neurology
  • Department of Pediatrics
  • University of Pennsylvania
  • Cystic Fibrosis Foundation Therapeutics Development Network Coordinating Center
  • Developmental Disorders Group
  • Department of Neurology
  • Center for Integrative Brain Research
  • Seattle Children’s Research Institute
  • Department of Neurology
  • Seattle Children’s Research Institute
  • Center for Integrative Brain Research
  • Seattle Children's Research Institute
  • Department of Genetics
  • Brotman Baty Institute for Precision Medicine
  • University of Minnesota Twin Cities
  • Seattle Research Institute

External person

Martin J. Larsen

  • Institute of Clinical Research
  • University of Southern Denmark
  • Department of Clinical Genetics

External person

Catherine Buchanan

  • Department of Clinical and Metabolic Genetics

External person

Priya S. Kishnani

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

External person

Thomas Guignard

  • Hôpital Arnaud de Villeneuve

External person

Christina R. Fagerberg

  • University of Southern Denmark

External person

Sarah M. Brown

  • Edward A. Doisy Department of Biochemistry and Molecular Biology
  • Saint Louis University
  • Department of Pathology
  • Washington University St. Louis
  • Department of Pediatrics
  • Department of Pathology and Immunology
  • University of Michigan, Ann Arbor
  • Meds and Food for Kids

External person

David J. Amor

  • Victorian Clinical Genetics Services
  • Royal Children's Hospital
  • University of Melbourne
  • Department of Paediatrics
  • Murdoch Children's Research Institute
  • Royal Children's Hospital, Melbourne

External person

Karen W. Gripp

  • Baylor College of Medicine
  • Human Genome Sequencing Center
  • Alfred I. duPont Hospital for Children

External person

H. M. Kearney

  • Mission Health

External person

Miroslav Dumić

  • Department of Pediatrics Rebro
  • University of Zagreb

External person

Frédéric Tran Mau-Them

  • Institut national de la santé et de la recherche médicale
  • Hôpital Arnaud de Villeneuve
  • Université de Bourgogne
  • INSERM U1231 'Lipides Nutrition Cancer'
  • CHU Montpellier

External person

Laurence E. Walsh

  • Riley Hospital for Children
  • Indiana University-Purdue University Indianapolis
  • Department of Neurology
  • Indiana University Bloomington
  • Indiana University Health

External person

Eric Legius

  • Children's Tumor Foundation
  • Washington University St. Louis
  • KU Leuven
  • Center for Human Genetics
  • University of Sydney
  • Department of Human Genetics

External person

R. C. Rogers

  • Greenwood Genetics Center

External person

Sarah L. Ruppert

  • National Institutes of Health
  • Genetic Disease Research Branch, National Human Genome Research Institute

External person

Sylvia Redon

  • Université de Bretagne Occidentale
  • CHU de Brest

External person

C. Shaw-Smith

  • Department of Medical Genetics
  • Cambridge University Hospitals NHS Foundation Trust
  • Royal Devon & Exeter NHS Foundation Trust
  • Wellcome Sanger Institute
  • Guy's and St
  • A Collaboration Between the University Medical Schools and NHS

External person

Thatjana Gardeitchik

  • Radboud University Nijmegen

External person

Audrey Labalme

  • Hospices civils de Lyon
  • Lyon University Hospital
  • CHU-Lyon Sud

External person

Kathy Sisco

  • Department of Pediatrics
  • Washington University St. Louis

External person

Paola Grammatico

  • University of Rome La Sapienza

External person

Jenny Lai

  • Harvard University

External person

E. Boyd

  • Mission Health

External person

Ashley Wilson

  • Children's Hospital of New York
  • Columbia University
  • Department of Pediatrics
  • New York Presbyterian Hospital
  • New York University
  • Department of Pediatrics

External person

Melanie Bahlo

  • Bioinformatics Division
  • Department of Mathematics and Statistics
  • University of Melbourne
  • Walter and Eliza Hall Institute of Medical Research
  • Population Health and Immunity Divison
  • School of Mathematics and Statistics
  • Department of Biology
  • Department of Medical Biology

External person

Cornelia Kraus

  • Friedrich-Alexander University Erlangen-Nürnberg

External person

Elodie Sanchez

  • Institut national de la santé et de la recherche médicale
  • Hôpital Arnaud de Villeneuve
  • CHU Montpellier

External person

Heather B. Radtke

  • Children's Hospital of Wisconsin Wauwatosa

External person

Xiadong Wang

  • Ciphergene
  • Ciphergene

External person

Beth A. Kozel

  • National Institutes of Health
  • Department of Pediatrics
  • Washington University St. Louis
  • Department of Pediatrics
  • Department of Cell Biology
  • Dept. of Cell Biology and Physiology
  • Dept. of Cell Biology and Physiology
  • Division of Laboratory and Genomic medicine
  • Center for Investigation of Membrane Excitability Diseases
  • Division of Oncology
  • Departments of Pediatrics and Genetics
  • Current Affiliation
  • Division of Genetics and Genomic Medicine
  • Department of Cell Biology and Physiology
  • Department of Cell Biology and Physiology

External person

Laura Baker

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

External person

Timothy W. Yu

  • Harvard University
  • Broad Institute
  • Division of Genetics and Genomics
  • Membership of the SPARK Consortium Members is Provided in the Acknowledgements
  • Division of Gastroenterology and Nutrition
  • Massachusetts Institute of Technology

External person

Madeleine Fannemel

  • University of Oslo
  • Department of Medical Genetics

External person

Fleur Vansenne

  • University of Groningen

External person

Jennifer M. Bain

  • Columbia University
  • Center for Translational and Systems Neuroimmunology
  • Department of Neurology
  • New York University

External person

Holly K. Harris

  • Baylor College of Medicine
  • Harvard University
  • Texas Children's Hospital Center for Vaccine Development

External person