William B Dobyns

1979 …2021

Research activity per year

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Network

Mary Ella M Pierpont

Person: Medical School Affiliates

H. Brent Clark

Person: Medical School Affiliates

R. Guerrini

  • University of Pisa
  • Ospedale Pediatrico Meyer
  • Departmentof Neurology
  • IRCCS Fondazione Stella Maris - Calambrone (Pisa)
  • University of Florence
  • Neurology Unit and Laboratories
  • Pediatric Neurology Unit and Laboratories
  • Pediatric Neurology
  • Pediatric Neurology
  • Div. of Child Neurol. and Psychiatry
  • Great Ormond Street Hospital for Children NHS Trust
  • King's College Hospital
  • Inst. of Child Neurol. and Psychiat.
  • University College London

External person

Ghayda M. Mirzaa

  • Center for Integrative Brain Research
  • University of Washington
  • Children's Hospital and Regional Medical Center Seattle
  • Department of Pediatrics
  • University of Chicago
  • Brotman Baty Institute for Precision Medicine
  • Seattle Children’s Hospital and Research Institute
  • Dr. William Dobyns' laboratory
  • Seattle Children's Hospital Research Institute
  • Seattle Children's Hospital
  • University of Illinois at Chicago
  • Seattle Children’s Research Institute
  • Arabian Gulf University
  • Weizmann Institute of Science
  • University of Minnesota

External person

J. G. Gleeson

  • Harvard University
  • Howard Hughes Medical Institute
  • F.M. Kirby Neurobiology Center
  • Department of Neurology
  • Department of Neurosciences and Pediatrics
  • Beth Israel-Deaconess Medical Center
  • Boston Children's Hospital
  • University of California
  • Rockefeller University
  • University of California at San Diego
  • IRCCS Ospedale Casa Sollievo della Sofferenza - San Giovanni Rotondo (FG)
  • Rady Children's Hospital
  • Massachusetts General Hospital

External person

A. J. Barkovich

  • United States Army
  • University of California at San Francisco
  • Yale University School of Medicine
  • Neuroradiology Section
  • Neuroradiolog
  • Neuroradiology Section
  • Department of Neurology
  • Department of Radiology
  • Department of Pediatrics
  • Department of Neurology
  • Department of Pediatrics
  • Department of Radiology
  • Department of Neurology
  • Department of Radiology and Biomedical Imaging
  • Department of Radiology and Biomedical Imaging
  • Department of Neuroradiology
  • Department of Neuroradiology
  • Department of Neurology
  • Department of Neurology
  • Department of Radiology
  • National Society for Epilepsy
  • Department of Neurology
  • American College of Radiology
  • Depts. Neurol., Pediat., Radiol., E.
  • Yale University
  • Epilepsy Society
  • IRCCS Fondazione Stella Maris - Calambrone (Pisa)

External person

Richard J. Leventer

  • Royal Children's Hospital
  • Department of Pathology, University of Melbourne, Chemical Pathologist, Melbourne Pathology
  • Murdoch Children's Research Institute
  • University of Chicago

External person

D. H. Ledbetter

  • National Institutes of Health
  • University of Chicago
  • Geisinger Medical Center
  • Autism and Developmental Medicine Institute
  • Genomic Medicine Institute
  • Center for Medical Genetics
  • Genomic Medicine Institute
  • National Human Genome Research Institute
  • Baylor College of Medicine
  • Indiana University-Purdue

External person

C. A. Walsh

  • Harvard University
  • Beth Israel-Deaconess Medical Center
  • Department of Neurology
  • Programs Neurosci. Biol. Biomed. S.
  • Berenson-Allen Center for Noninvasive Brain Stimulation
  • Boston Children's Hospital
  • Division of Genetics
  • Department of Pediatrics
  • Department of Neurology
  • Division of Neurogenetics
  • Biological and Biomedical Sciences graduate program
  • Child and Adolescent Psychiatry
  • Program in Genetics and Genomics
  • Howard Hughes Medical Institute
  • Department of Neurology
  • Stockholm County Council
  • Program in Genetics and Genomics
  • Department of Neurology
  • Department of Neurology
  • Broad Institute

External person

Kimberly A. Aldinger

  • University of Southern California
  • Zilkha Neurogenetic Institute
  • Children's Hospital and Regional Medical Center Seattle
  • University of Chicago
  • University of Washington
  • Seattle Children's Hospital Research Institute
  • Seattle Children's Research Institute
  • Brotman Baty Institute for Precision Medicine

External person

M. S. Zaki

  • National Research Center
  • Clinical Genetics Department
  • University of California at San Diego

External person

D. T. Pilz

  • University Hospital of Wales
  • Institute of Medical Genetics
  • Cardiff & Vale University Health Board
  • University of Chicago
  • Queen Elizabeth University Hospital
  • Cardiff University
  • Swansea University

External person

Kathleen J. Millen

  • University of Washington
  • Rockefeller University
  • Lab. of Developmental Neurobiology
  • Department of Pediatrics
  • Children's Hospital and Regional Medical Center Seattle
  • Center for Integrative Brain Research
  • University of Chicago
  • Seattle Children's Hospital Research Institute
  • Seattle Children's Research Institute

External person

A. R. Paciorkowski

  • Children's Hospital and Regional Medical Center Seattle
  • Seattle Children's Research Institute
  • University of Rochester
  • Washington University St. Louis
  • University of Washington

External person

Cynthia J. Curry

  • University of California at San Francisco
  • Valley Children's Hospital - Fresno County
  • Genetic Medicine Central California
  • University Pediatric Specialists
  • Indiana University-Purdue
  • Children's Hospital of Central California
  • Indiana University School of Medicine Indianapolis
  • Medical College of Wisconsin

External person

Karen W. Gripp

  • Alfred I. duPont Hospital for Children
  • Nemours Children's Clinic
  • Thomas Jefferson University
  • University of Chicago
  • DuPont

External person

Susan L. Christian

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

External person

Elaine Zackai

  • University of Pennsylvania
  • Human Genetics and Molecular Biology
  • Division of Human Genetics
  • Department of Pediatrics
  • The Children’s Hospital of Philadelphia
  • Department of Human Genetics
  • Genet. Children's Hosp. Philadelphia
  • St. Louis University

External person

M. E. Ross

  • Fairview Health Service
  • Cornell University
  • Department of Neurology and Neuroscience
  • Department of Neurology
  • University of Minnesota Twin Cities
  • Department of Neuroscience
  • Department of Neurology
  • University of Minnesota Medical School
  • Minnesota University Hospital/Clinic
  • Weill Cornell Medical College
  • Minneapolis Vet. Aff. Medical Center
  • University of Minnesota
  • Feil Family Brain and Mind Research Institute

External person

Soma Das

  • University of Chicago
  • Department of Human Genetics
  • Department of Human Genetics
  • Department of Human Genetics
  • Department of Human Genetics
  • Department of Human Genetics, The University of Chicago
  • University of Washington

External person

John M. Graham

  • Cedars-Sinai Medical Center
  • University of California at Los Angeles
  • Med. Genetics Birth Defects Center
  • University of Edinburgh
  • Department of Pediatrics
  • Steven Spielberg Pediat. Res. Center
  • University of Washington

External person

Grazia Mancini

  • Erasmus University Rotterdam
  • Erasmus MC – Sophia Children's Hospital

External person

Dan Doherty

  • University of Washington
  • Children's Hospital and Regional Medical Center Seattle
  • Seattle Children's Hospital
  • Departments of Pediatrics
  • Seattle Children's Research Institute
  • Brotman Baty Institute for Precision Medicine

External person

Ian A. Glass

  • University of Washington
  • Children's Hospital and Regional Medical Center Seattle
  • Seattle Children’s Hospital and Research Institute
  • Children's National Medical Center
  • Seattle Children's Research Institute
  • Brotman Baty Institute for Precision Medicine

External person

Jean Baptiste Rivière

  • Children's Hospital and Regional Medical Center Seattle
  • Ente Ospedaliero Ospedali Galliera
  • Dipartimento di Genetica Medica
  • Seattle Children's Hospital
  • McGill University
  • Universite de Bourgogne
  • Universite Bourgogne Franche-Comte
  • Research Institute of the McGill University Health Centre
  • U866
  • McGill University

External person

E. H. Sherr

  • University of California at San Francisco
  • Department of Neurology
  • Department of Neurology

External person

H. Kayserili

  • Istanbul University
  • Medical Genetics Department
  • Koc University

External person

Nataliya Di Donato

  • Technische Universität Dresden
  • Institute for Clinical Genetics
  • Children's Hospital and Regional Medical Center Seattle
  • Medizinische Fakulität Carl Gustav Carus

External person

Sarah Collins

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

External person

Elena Parrini

  • Ospedale Pediatrico Meyer
  • IRCCS Fondazione Stella Maris - Calambrone (Pisa)
  • University of Florence

External person

G. M. Abdel-Salam

  • National Research Center
  • Clinical Genetics Department

External person

Rachel Schot

  • Erasmus University Rotterdam

External person

Andrew E. Timms

  • Children's Hospital and Regional Medical Center Seattle
  • Seattle Children’s Hospital and Research Institute
  • Nemours Children's Clinic
  • Thomas Jefferson University
  • Seattle Children's Hospital Research Institute
  • Seattle Children's Research Institute

External person

Ingrid Scheffer

  • University of Melbourne
  • Department of Medicine
  • Florey Institute and Department of Pediatrics
  • The Florey Institute of Neuroscience and Mental Health
  • Department of Paediatrics
  • Department of Pediatrics
  • Department of Neurology
  • Department of Neurology
  • Department of Pathology, University of Melbourne, Chemical Pathologist, Melbourne Pathology
  • Murdoch Children's Research Institute
  • Royal Children's Hospital
  • Florey Institute of Neuroscience and Mental Health

External person

Enza Maria Valente

  • IRCCS Fondazione Santa Lucia - Roma
  • University of Pavia
  • Mendel Institute
  • University of Salerno
  • University of Messina
  • IRCCS Ospedale Casa Sollievo della Sofferenza - San Giovanni Rotondo (FG)
  • University of Rome La Sapienza
  • CSS-Mendel Laboratory San Giovanni Rotondo

External person

Jennifer L. Silhavy

  • University of California
  • Howard Hughes Medical Institute
  • Rockefeller University

External person

E. Andermann

  • McGill University
  • Departments of Neurology and Neurosurgery and Human Genetics
  • Neurogenetics Unit and Epilepsy Research Group
  • Montreal Neurological Institute
  • Department of Human Genetics
  • University of Pisa

External person

Carlos Cardoso

  • Aix Marseille Universite
  • University of Chicago
  • INSERM
  • Faculté des Sciences de Luminy

External person

A. Brashear

  • Indiana University-Purdue
  • Department of Neurology
  • Indiana University School of Medicine Indianapolis
  • University Hospital
  • Wake Forest University

External person

Jyotsna Sudi

  • University of Chicago
  • University of Catania

External person

Samuel Berkovic

  • University of Melbourne
  • National Society for Epilepsy
  • Department of Medicine
  • Department of Neurology
  • Department of Neurology
  • Department of Neurology
  • Epilepsy Society
  • Department of Pathology, University of Melbourne, Chemical Pathologist, Melbourne Pathology
  • McGill University
  • Royal Children's Hospital

External person

Gisele E. Ishak

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

External person

Hannah M. Tully

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

External person

Dorit Lev

  • Tel Aviv University
  • Edith Wolfson Medical Center Israel

External person

N. Matsumoto

  • Department of Human Genetics
  • Yokohama City University
  • Neurounion Biomedical Foundation
  • Biomedical Neuroscience Institute
  • Universidad de Chile
  • Brain Health and Metabolism
  • Yokohama City University Graduate School of Medicine
  • University of Chicago
  • Nagasaki University

External person

L. Al-Gazali

  • United Arab Emirates University
  • Department of Paediatrics

External person

R. Kuzniecky

  • National Society for Epilepsy
  • Department of Neurology
  • Department of Neurology
  • University of Alabama at Birmingham
  • Department of Neurology
  • UAB Epilepsy Center
  • Comprehensive Epilepsy Center
  • New York University
  • Department of Neurology
  • Division of Clinical Immunology and Rheumatology
  • NYU Epilepsy Center
  • Department of Medicine
  • UAB Epilepsy Center
  • Department of Neurology
  • NYU Epilepsy Center
  • Epilepsy Society

External person

Renske Oegema

  • Erasmus University Rotterdam
  • Utrecht University

External person

Valerio Conti

  • Ospedale Pediatrico Meyer
  • University of Florence
  • IRCCS Fondazione Stella Maris - Calambrone (Pisa)

External person

Enrico S. Bertini

  • IRCCS Ospedale pediatrico Bambino Gesù - Roma

External person

Ravinesh A. Kumar

  • University of Chicago
  • University of British Columbia
  • Child and Family Research Institute, Canada

External person

Laszlo Sztriha

  • University of Szeged
  • United Arab Emirates University

External person

Francesco Brancati

  • Mendel Institute
  • Gabriele d’Annunzio University
  • University of Rome La Sapienza
  • IRCCS Ospedale Casa Sollievo della Sofferenza - San Giovanni Rotondo (FG)
  • University of Rome Tor Vergata

External person

Amy Goldstein

  • Genet. Children's Hosp. Philadelphia
  • University of Pennsylvania
  • University of Pittsburgh

External person

Mark O'Driscoll

  • University of Sussex
  • Genome Damage and Stability Unit
  • University of Ottawa

External person

Alain Verloes

  • Hopital Robert-Debre AP-HP
  • Universite Paris 7
  • Department of Genetics
  • Department of Genetics
  • Universite Paris 5

External person

Denise Horn

  • Charite - Universitatsmedizin Berlin
  • Max Planck Institute for Molecular Genetics

External person

Jeffrey A. Golden

  • University of Pennsylvania
  • Genet. Children's Hosp. Philadelphia
  • St. Louis University

External person

J. Wheless

  • University of Texas at Austin
  • University of Tennessee Health Science Center
  • Le Bonheur Children's Medical Center
  • Neuroscience Institute
  • Department of Pediatrics
  • Department of Pediatric Neurology
  • University of Texas Health Science Center at Houston

External person

E. Boltshauser

  • University of Washington
  • University of Zurich

External person

Alice Abdel-Aleem

  • National Research Center

External person

David Viskochil

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

External person

C. Geoffrey Woods

  • St James's University Hospital
  • University of Cambridge
  • Cambridge
  • Cambridge University Hospitals NHS Foundation Trust
  • IRCCS Oasi di Maria Santissima - Troina (EN)
  • Broad Institute

External person

Raoul C. Hennekam

  • University of Amsterdam
  • Department of Pediatrics
  • Department of Paediatrics
  • University College London
  • London

External person

Lisa G. Shaffer

  • Signature Genomic Laboratories, LLC
  • Signature Genomics
  • Baylor College of Medicine
  • Jan and Dan Duncan Neurological Research Institute
  • Washington State University Spokane
  • Genetic Veterinary Sciences, Inc.
  • PerSeptive Biosystems
  • University of Washington
  • Spokane

External person

Francesca Faravelli

  • Ente Ospedaliero Ospedali Galliera
  • Dipartimento di Genetica Medica
  • University College London
  • Great Ormond Street Hospital for Children NHS Trust

External person

Lina Basel-Vanagaite

  • Tel Aviv University
  • Rabin Medical Center Israel
  • Schneider Childrens Medical Center Israel
  • Raphael Recanati Genetic Institute
  • Pediatric Genetics Unit

External person

Frank Greenberg

  • Baylor College of Medicine
  • Indiana University School of Medicine Indianapolis
  • Medical College of Wisconsin
  • Mayo Clinic Rochester MN

External person

Laurie Ozelius

  • Icahn School of Medicine at Mount Sinai (ISMMS)
  • Harvard University
  • Department of Genetics and Genomic Sciences
  • Department of Neurology
  • Massachusetts General Hospital
  • Massachusetts General Hospital
  • National Institutes of Health
  • Yeshiva University
  • Indiana University School of Medicine Indianapolis

External person

Kenton R. Holden

  • Medical University of South Carolina
  • Greenwood Genetics Center

External person

Tally Lerman-Sagie

  • Tel Aviv University
  • Edith Wolfson Medical Center Israel

External person

Thomas Voit

  • Sorbonne Université
  • University College London
  • Institut de Myologie
  • Sorbonne Universités-MNHN-CNRS-UPMC
  • Great Ormond Street Hospital for Children NHS Trust
  • National Institute for Health Research
  • University of Duisburg-Essen

External person

Diana Alcantara

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

External person

Margaret P. Adam

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

External person

Jennifer C. Dempsey

  • University of Washington
  • Seattle Children's Hospital

External person

James T. Bennett

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

External person

D. Mei

  • IRCCS Fondazione Stella Maris - Calambrone (Pisa)
  • Ospedale Pediatrico Meyer

External person

Gã Khan Uyanik

  • University Medical Center Hamburg-Eppendorf
  • University of Regensburg

External person

A. Rajab

  • Ministry of Health Oman
  • Genetic Unit

External person

Peter J. Van Der Spek

  • Erasmus University Rotterdam

External person

Stefano D'Arrigo

  • IRCCS Fondazione Istituto Neurologico Carlo Besta - Milano
  • Rockefeller University

External person

Laurence Faivre

  • Centre Georges-Francois Leclerc
  • Universite de Bourgogne
  • Cancer Research Center of Lyon
  • Universite Claude Bernard Lyon 1
  • Centre de Génétique
  • Service de Génétique Médicale
  • Universite Bourgogne Franche-Comte
  • U866

External person

Christa Lese Martin

  • Emory University
  • Geisinger Medical Center
  • Autism and Developmental Medicine Institute
  • Genomic Medicine Institute
  • Department of Human Genetics
  • School of Medicine
  • Department of Human Genetics
  • Geisinger Autism & Developmental Medicine Institute
  • Membership of the SPARK Consortium Members is Provided in the Acknowledgements
  • University of Michigan
  • University of Chicago

External person

S. E. Marsh

  • Howard Hughes Medical Institute
  • Department of Neurosciences and Pediatrics
  • University of California

External person

Andreas Janecke

  • Innsbruck Medical University

External person

Lorenzo Pavone

  • Policlin. Dell'Univ. di Catania
  • University of Catania

External person

Carissa Olds

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

External person

Anna Jansen

  • McGill University
  • Vrije Universiteit Brussel
  • UZ Univeristy of Brussel

External person

M. Kato

  • University of Chicago
  • Yamagata University
  • Showa University

External person

Robert F. Hevner

  • University of Washington
  • Children's Hospital and Regional Medical Center Seattle
  • Seattle Children's Hospital Research Institute
  • University of California at San Diego

External person

Gustavo Maegawa

  • University of Florida
  • Department of Pediatrics/Genetics and Metabolism

External person

Ute Moog

  • Institute of Human Genetics
  • Heidelberg University 
  • Maastricht University

External person

Matloob Azam

  • Wah Medical College

External person

Jonathan A. Bernstein

  • Stanford University

External person

Chiara Pantaleoni

  • IRCCS Fondazione Istituto Neurologico Carlo Besta - Milano

External person

L. Bastaki

  • Kuwait Medical Genetics Centre

External person

Rudy Van Coster

  • Ghent University
  • Department of Pediatric Neurology and Metabolism

External person

Bruno Dallapiccola

  • Mendel Institute
  • University of Rome La Sapienza
  • IRCCS Ospedale pediatrico Bambino Gesù - Roma
  • IRCCS Ospedale Casa Sollievo della Sofferenza - San Giovanni Rotondo (FG)

External person

Bruria Ben-Zeev

  • Tel Aviv University
  • Sheba Medical Center at Tel Hashomer
  • Ramat- Gan

External person

Lorena Travaglini

  • Mendel Institute
  • University of Rome La Sapienza
  • IRCCS Ospedale Casa Sollievo della Sofferenza - San Giovanni Rotondo (FG)
  • IRCCS Ospedale pediatrico Bambino Gesù - Roma

External person

Jay Shendure

  • University of Washington
  • Division of Medical Genetics
  • University of Sussex
  • Howard Hughes Medical Institute

External person

Michel Koenig

  • Universite de Strasbourg

External person

Elizabeth Hopkins

  • Nemours Children's Clinic
  • DuPont

External person

Jane Hurst

  • Churchill Hospital
  • Oxford University Hospitals NHS Foundation Trust
  • Department of Clinical Genetics
  • Great Ormond Street Hospital for Children NHS Trust
  • Leeds
  • Wellcome Trust

External person

J. A. Rosenfeld

  • Signature Genomics
  • Baylor College of Medicine
  • Jan and Dan Duncan Neurological Research Institute
  • PerSeptive Biosystems
  • University of Washington
  • GeneDX Inc
  • Baylor Genetics, LLC

External person

Nadia Bahi-Buisson

  • Université Paris Descartes Sorbonne Cite
  • Universite Paris 5
  • Université Paris Descartes Sorbonne Paris Cité
  • Cochin Institute
  • Université de Paris

External person

F. Moro

  • IRCCS Fondazione Stella Maris - Calambrone (Pisa)

External person

Clotilde Lagier-Tourenne

  • Universite de Strasbourg

External person

Judith St-Onge

  • Universite de Bourgogne
  • Universite Bourgogne Franche-Comte
  • Research Institute of the McGill University Health Centre
  • Seattle Children's Hospital
  • Children's Hospital and Regional Medical Center Seattle

External person

Gaetano Tortorella

  • University of Messina

External person

Mattia Gentile

  • Hospital Di Venere - ASL Bari
  • Department of Medical Genetics
  • Department of Medical Genetics
  • Hospital Di Venere - ASL Bari
  • Hospital Di Venere - ASL Bari
  • ASL BARI and de Bellis IRCCS
  • IRCCS Ente Ospedaliero specializzato in gastroenterologia Saverio De Bellis - Castellana Grotte (BA)

External person

P. F. Chance

  • University of Washington
  • Ghent University
  • University of Pennsylvania
  • Children's Hospital and Regional Medical Center Seattle
  • Department of Neurology
  • Department of Pediatrics
  • Department of Pediatrics
  • Division of Neurology
  • Department of Neurology
  • The Children’s Hospital of Philadelphia
  • Seattle Children's Hospital
  • Genet. Children's Hosp. Philadelphia
  • Children's National Medical Center

External person

Laura A. Jansen

  • University of Virginia
  • Children's Hospital and Regional Medical Center Seattle
  • Washington University St. Louis

External person

Hans Van Bokhoven

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

External person

Wendy K. Chung

  • Columbia University
  • Departments of Pediatrics and Medicine
  • Department of Pediatrics
  • Department of Medicine
  • Departments of Pediatrics and Medicine
  • Department of Pediatrics
  • University of Utah
  • Department of Human Genetics
  • Division of Molecular Genetics
  • Genetics Service
  • Autonomous University of Barcelona
  • Department of Neurology
  • Simons Foundation
  • New York University
  • Department of Medicine
  • Department of Paediatrics

External person

Carmelo D. Salpietro

  • University of Messina

External person

Dean Sarco

  • Boston Children's Hospital
  • Harvard University

External person

F. Andermann

  • McGill University
  • University of Minnesota Duluth
  • Epilepsy Research Group
  • Departments of Neurology and Neurosurgery and Pediatrics
  • Montreal Neurological Institute

External person

Joseph T C Shieh

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

External person

Brian H.Y. Chung

  • University of Hong Kong

External person

Jill Clayton-Smith

  • St Mary's Hospital London
  • Imperial College London
  • Department of Clinical Genetics
  • Imperial College Healthcare NHS Trust
  • University of Manchester

External person

Robert F. Stratton

  • University of Texas Health Science Center at San Antonio
  • Department of Pediatrics
  • Baylor College of Medicine
  • South Texas Genetics Center
  • South Texas Genetics Center
  • Mayo Clinic Rochester MN

External person

Martin R. Farlow

  • Indiana University Bloomington
  • Indiana University-Purdue
  • University of Minnesota Duluth
  • University of Minnesota Twin Cities
  • Department of Medical and Molecular Genetics
  • Department of Neurology
  • Department of Neurology
  • Department of Neurology
  • Department of Neurology
  • School of Medicine
  • Indiana University School of Medicine Indianapolis

External person

A. Al-Tawari

  • Al Sabah Hospital
  • Pediatric Neurology Unit
  • Al-Sabah Hospital

External person

Frans W. Verheijen

  • Erasmus University Rotterdam

External person

Roberta Battini

  • IRCCS Fondazione Stella Maris - Calambrone (Pisa)

External person

Anna Elina Lehesjoki

  • University of Helsinki
  • Folkhalsan

External person

W. Squier

  • Oxford University Hospitals NHS Foundation Trust
  • Radcliffe Infirmary

External person

Cecilia E. Kim

  • Fox Chase Cancer Center

External person

Christopher Bennett

  • Leeds
  • St James's University Hospital
  • Wellcome Trust

External person

Hope Northrup

  • Division of Child and Adolescent Neurology
  • University of Texas Health Science Center at Houston

External person

Christopher T. Sullivan

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

External person

Alma Kuechler

  • Institut für Humangenetik and Anthroplogie
  • Klinik für Strahlentherapie
  • University of Duisburg-Essen
  • Institut fuer Humangenetik

External person

Graziella Uziel

  • IRCCS Fondazione Istituto Neurologico Carlo Besta - Milano

External person

Lucio Giordano

  • Neurophychiatric Department

External person

Stacey B. Gabriel

  • Broad Institute
  • Harvard University
  • Massachusetts Institute of Technology
  • National Institutes of Health
  • Program in Medical and Population Genetics
  • Cancer Genome Atlas Program Office
  • 7 Cambridge Center
  • Cancer Biology Program
  • Genetic Analysis Platform
  • Medical and Population Genetics
  • University of Michigan, Ann Arbor
  • National Cancer Institute (NCI)

External person

Dalia Ghoneim

  • University of Rochester

External person

L. G. Biesecker

  • National Institutes of Health
  • University of Wisconsin
  • National Health Genome Research Institute
  • Medical Genomics and Metabolic Genetics Branch
  • Genetic Diseases Research Branch
  • National Human Genome Research Institute

External person

Bernard L. Maria

  • University of Missouri

External person

Melissa A. Parisi

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

External person

Cyril Mignot

  • Sorbonne Université
  • Sorbonne Universités-MNHN-CNRS-UPMC
  • AP-HP Assistance Publique - Hopitaux de Paris

External person

K. M. Boycott

  • University of Calgary
  • Department of Medical Genetics
  • Centre hospitalier pour enfants de l'est de l'Ontario
  • Cedars-Sinai Medical Center

External person

Lionel Van Maldergem

  • Institut de Pathologie et de Génétique
  • Universite de Franche-Comte
  • University of Liege
  • Centre for Human Genetics
  • Centre de Génétique Humaine
  • Centre de Génétique Humaine
  • Cochin Institute

External person

Thomas D. Cushion

  • Cardiff University
  • Swansea University
  • Swansea University Medical School

External person

Robert P. Cruse

  • Baylor College of Medicine

External person

Julien Thevenon

  • Universite de Bourgogne
  • Research Unit 4271
  • Genetic Center and Reference Center for Congenital Anomalies of the East of France
  • Translational Medicine for Congenital Anomalies (TRANSLAD)
  • Universite Bourgogne Franche-Comte

External person

J. Chelly

  • Universite Paris 5
  • CEFE - UMR 5175
  • Université Paris Descartes Sorbonne Paris Cité
  • Hopital Civil
  • Universite de Strasbourg
  • Université de Paris

External person

Sabrina Signorini

  • University of Pavia
  • IRCCS Fondazione Istituto Neurologico Casimiro Mondino - Pavia

External person

Kalpathy S. Krishnamoorthy

  • Harvard University
  • Department of Neurology
  • Massachusetts General Hospital

External person

Murat Gunel

  • Yale University

External person

Kathy J. Swoboda

  • University of Utah
  • Neurology and Pediatrics

External person

Stephen R. Braddock

  • University of Missouri
  • Saint Louis University
  • Departments of Pediatrics and Molecular Cytogenetics
  • Department of Child Health
  • Univ. of TX Southwestern Med. Ctr.
  • Department of Pediatrics
  • SSM Health Cardinal Glennon Children's Medical Center

External person

Francesco Emma

  • IRCCS Ospedale pediatrico Bambino Gesù - Roma

External person

Carla Marini

  • Ospedale Pediatrico Meyer
  • University of Florence
  • Neurology Unit and Laboratories
  • Pediatric Neurology Unit and Laboratories
  • IRCCS Fondazione Stella Maris - Calambrone (Pisa)

External person

A. Bodell

  • Harvard University
  • Howard Hughes Medical Institute
  • Boston Children's Hospital

External person

Marc D'Hooghe

  • Sint-Jan Hospital

External person

Anne T. Berg

  • Northern Illinois University
  • Children's Memorial Hospital
  • Northwestern University
  • University of California at Los Angeles
  • Department of Biology
  • Children's Memorial Hospital
  • Ann and Robert H. Lurie Children's Hospital of Chicago
  • Department of Biological Sciences
  • Department of BIOS
  • Department of Biological Sciences
  • Department of Biology

External person

Alex Magee

  • Belfast Health and Social Care Trust
  • Belfast
  • Belfast City Hospital

External person

Robin M. Winter

  • Institute of Child Health
  • University College London
  • Pennsylvania State University

External person

Stephane Romano

  • Universite Paris 5

External person

Kaya Bilguvar

  • Yale University

External person

I. J. Butler

  • University of Texas Health Science Center at Houston
  • Indiana University School of Medicine Indianapolis

External person

Pascale De Lonlay

  • Greenwood Genetic Center
  • Universite Paris 5
  • Service de Maladies Métaboliques
  • Greenwood Genetics Center
  • Service de Maladies Métaboliques
  • AP-HP Assistance Publique - Hopitaux de Paris

External person

Tania Attie-Bitach

  • Cochin Institute
  • Universite Paris 5
  • Université Paris Descartes Sorbonne Cite

External person

Roger L. Ladda

  • Pennsylvania State University
  • Penn State Children's Hospital

External person

Luciana Rigoli

  • University of Messina

External person

Dawn Siegel

  • Oregon Health and Science University
  • Department of Pathology
  • Medical College of Wisconsin

External person

Irenaeus F.M. De coo

  • Erasmus MC – Sophia Children's Hospital
  • Erasmus University Rotterdam

External person

Christopher D. Smyser

  • Washington University St. Louis

External person

Maria Roberta Cilio

  • IRCCS Ospedale pediatrico Bambino Gesù - Roma

External person

R. Borgatti

  • IRCCS Istituto Eugenio Medea - Bosisio Parini (LC)
  • La Nostra Famiglia

External person

Mark I. Rees

  • Swansea University Medical School
  • Swansea University
  • Cardiff & Vale University Health Board

External person

D. Swistun

  • Howard Hughes Medical Institute
  • Department of Neurosciences and Pediatrics
  • University of California

External person

Rasim Ozgur Rosti

  • Rockefeller University
  • University of California

External person

N. Stoodley

  • North Bristol NHS Trust

External person

Ignacio Pascual-Castroviejo

  • Hospital Universitario La Paz

External person

Petter Stromme

  • University of Oslo

External person

F. Dubeau

  • McGill University
  • Montreal Neurological Institute

External person

Fowzan S. Alkuraya

  • King Faisal Specialist Hospital and Research Centre
  • Alfaisal University
  • King Abdulaziz City for Science and Technology

External person

Cynthia Moore

  • Indiana University-Purdue
  • Centers for Disease Control and Prevention

External person

Colin A. Johnson

  • University of Birmingham
  • Cardiff & Vale University Health Board
  • St James's University Hospital
  • Wellcome Trust

External person

Pasquale Striano

  • University of Genoa
  • Department of Neurosciences
  • University of Naples Federico II
  • IRCCS Istituto Giannina Gaslini - Genova

External person

Carol L. Clericuzio

  • University of New Mexico
  • Department of Pediatrics
  • Department of Pediatrics

External person

Emily Tuttle

  • University of Rochester

External person

Sonya A. Gunter

  • University of Virginia

External person

Eric M. Scott

  • Rockefeller University
  • University of California
  • San Bernardino County Museum

External person

Andrew E. Fry

  • Cardiff & Vale University Health Board
  • Cardiff University

External person

A. Micheil Innes

  • University of Calgary
  • Cumming School of Medicine

External person

Brenda J. Barry

  • Boston Children's Hospital
  • Howard Hughes Medical Institute
  • Harvard University

External person

Kerstin Kutsche

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

External person

Mirjam M. De Jong

  • University of Groningen

External person

Bernard Chang

  • Harvard University
  • Beth Israel-Deaconess Medical Center
  • Howard Hughes Medical Institute
  • Boston Children's Hospital

External person

K. Petras

  • University of Chicago

External person

Lydie Burglen

  • Sorbonne Université
  • Sorbonne Universités-MNHN-CNRS-UPMC

External person

Alexander G. Bassuk

  • Northwestern University
  • University of Iowa

External person

Stanislav S. Kholmanskikh

  • Feil Family Brain and Mind Research Institute
  • Weill Cornell Medical College

External person

Romeo Carrozzo

  • Baylor College of Medicine
  • IRCCS San Raffaele Scientific Institute
  • IRCCS Fondazione Stella Maris - Calambrone (Pisa)
  • Fondazione Telethon

External person

P. L. Mills

  • University of Chicago

External person

Angela Lin

  • Harvard University
  • Medical Genetics Unit
  • Genetics Unit
  • Genetics Unit
  • Genetics and Teratology Unit
  • Teratology Program
  • Department of Pediatrics
  • Cedars-Sinai Medical Center
  • Massachusetts General Hospital
  • Brigham and Women's Hospital
  • MassGeneral Hospital for Children

External person

Parthiv Haldipur

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

External person

Jenny E.V. Morton

  • Birmingham Women's and Children's NHS Foundation Trust

External person

Robert L. Conway

  • Michigan State University
  • Wayne State University
  • Cedars-Sinai Medical Center

External person

Gian M. Ghiggeri

  • IRCCS Istituto Giannina Gaslini - Genova
  • Division of Nephrology, Dialysis, and Transplantation

External person

Julie S. Cohen

  • Kennedy Krieger Institute
  • Johns Hopkins University

External person

Susan Sell

  • Pennsylvania State University
  • Penn State Children's Hospital

External person

Victor V. Chizhikov

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

External person

Bru Cormand

  • CIBER - Center for Biomedical Research Network
  • Departament de Genètica
  • University of Barcelona
  • University of Helsinki
  • Folkhalsan
  • Pompeu Fabra University

External person

Deborah J. Morris-Rosendahl

  • University of Freiburg
  • Imperial College London

External person

Deborah A. Nickerson

  • University of Washington
  • Division of Medical Genetics
  • Department of Genome Sciences
  • Northwest Genomics Center
  • Brotman Baty Institute for Precision Medicine

External person

Renata Rizzo

  • University of Catania

External person

Daria Riva

  • IRCCS Fondazione Istituto Neurologico Carlo Besta - Milano

External person

Marie Claire Y. de Wit

  • Erasmus MC – Sophia Children's Hospital
  • Erasmus University Rotterdam

External person

Damir Musaev

  • University of California at San Diego
  • Rockefeller University
  • University of California

External person

Livia Garavelli

  • Azienda Ospedaliera Santa Maria Nuova di Reggio Emilia

External person

P. Accorsi

  • Neurophychiatric Department
  • Division of Child Neuropsychiatry

External person

Shubha Phadke

  • Sanjay Gandhi Postgraduate Institute of Medical Sciences
  • Department of Medical Genetics

External person

Jeremy W. Fox

  • University of Calgary
  • Department of Biological Sciences
  • Harvard University
  • Division of Neurogenetics
  • Biological and Biomedical Sciences graduate program
  • Beth Israel-Deaconess Medical Center

External person

Camille W. Brune

  • University of Illinois at Chicago
  • Department of Psychiatry
  • Institute for Juvenile Research

External person

Ute Hehr

  • University of Regensburg
  • Center for Human Genetics

External person

Annapurna Poduri

  • Harvard University
  • Division of Epilepsy and Clinical Neurophysiology
  • Department of Neurology
  • Department of Neurology
  • Department of Neurology
  • Department of Neurology
  • Boston Children's Hospital

External person

Russell P. Saneto

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

External person

Seo Kyung Chung

  • Swansea University Medical School
  • Swansea University

External person

Rachel Straussberg

  • Schneider Childrens Medical Center Israel
  • Tel Aviv University

External person

David J. Nicholl

  • City Hospital in Birmingham
  • Department of Neurology
  • Birmingham

External person

Dagmar Wieczorek

  • University of Duisburg-Essen
  • Heinrich Heine University Düsseldorf
  • Institut fuer Humangenetik

External person

Patricia G. Wheeler

  • The Nemours Children's Clinic
  • Indiana University School of Medicine Indianapolis
  • Carolinas Medical Center
  • Indiana University-Purdue

External person

M. Chiara Manzini

  • Child Health Institute of New Jersey
  • Boston Children's Hospital
  • Howard Hughes Medical Institute

External person

Yves Sznajer

  • Universite Catholique de Louvain
  • Service de Génétique Médicale
  • Center for Human Genetics

External person

Susan A. Ledbetter

  • Baylor College of Medicine

External person

Ahmet Okay Ḉağlayan

  • Dokuz Eylul University
  • Yale University
  • Istanbul Bilim University

External person

Livija Medne

  • Children’s Hospital of Philadelphia
  • Genet. Children's Hosp. Philadelphia

External person

Bertrand Isidor

  • Universite de Nantes
  • Service de Génétique Médicale
  • Hotel Dieu CHU de Nantes
  • CEFE - UMR 5175

External person

G. D. Jackson

  • Department of Pathology, University of Melbourne, Chemical Pathologist, Melbourne Pathology
  • University College London
  • University of Melbourne

External person

Vincent Cantagrel

  • Aix Marseille Universite
  • Howard Hughes Medical Institute
  • University of California

External person

Donna M. McDonald-McGinn

  • University of Pennsylvania
  • Human Genetics and Molecular Biology
  • The Children’s Hospital of Philadelphia
  • Department of Human Genetics
  • Genet. Children's Hosp. Philadelphia

External person

David Genevieve

  • CHU Montpellier
  • INSERM

External person

Sophie Currier

  • Boston Children's Hospital
  • Howard Hughes Medical Institute
  • Beth Israel-Deaconess Medical Center
  • Harvard University

External person

Katrien Stouffs

  • Vrije Universiteit Brussel

External person

Melissa M. Lees

  • London
  • London

External person

X. O. Breakefield

  • Harvard University
  • MA General Hospital-East
  • Department of Neurology and Radiology
  • Division of Cognitive and Behavioral Neurology
  • Department of Radiology
  • Program in Neuroscience
  • Department of Neurology
  • Molecular Neurogenetics Unit
  • Program in Neuroscience
  • Center for Human Genetic Research
  • Department of Radiology
  • Program in Neuroscience
  • Departments of Neurology and Radiology
  • Department of Neurology
  • Neurology Service
  • University of California at San Diego
  • Department of Neurosurgery
  • Department of Neurology and Center for Molecular Imaging Research Department of Radiology
  • University of California
  • Massachusetts General Hospital
  • Massachusetts General Hospital
  • Indiana University School of Medicine Indianapolis

External person

Ashleigh E. Schaffer

  • University of California at San Diego
  • University of California San Diego
  • Rockefeller University
  • University of California
  • Case Western Reserve University

External person

Elisa Fazzi

  • University of Pavia
  • Department of Child Neurology and Psychiatry

External person

Polina Bukshpun

  • University of California at San Francisco

External person

Graeme C M Black

  • Manchester Royal Eye Hospital
  • University of Manchester
  • Imperial College London
  • Centre for Molecular Medicine
  • Regional Genetic Service
  • St Mary's Hospital London
  • Institute of Cancer Sciences
  • Manchester University NHS Foundation Trust
  • Imperial College Healthcare NHS Trust
  • South Manchester University Hospital

External person

Jacek Majewski

  • McGill University
  • Genome Québec Innovation Centre
  • Department of Human Genetics
  • Departments of Medicine and Human Genetics

External person

Laurent Villard

  • Aix Marseille Universite

External person

Eric D. Marsh

  • Genet. Children's Hosp. Philadelphia
  • University of Pennsylvania
  • St. Louis University

External person

Heather C. Mefford

  • University of Washington
  • Seattle Children's Hospital
  • Brotman Baty Institute for Precision Medicine

External person

Vincenzo Leuzzi

  • IRCCS Ospedale pediatrico Bambino Gesù - Roma

External person

Kaylee Park

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

External person

Sinan Comu

  • Istanbul University

External person

Marjon A. van Slegtenhorst

  • Erasmus University Rotterdam

External person

Art Grix

  • Permanente Medical Group
  • Kaiser Permanente
  • Medical College of Wisconsin

External person

Annick Toutain

  • Universite Francois Rabelais
  • Hopital Bretonneau

External person

Andreas Rump

  • Technische Universität Dresden
  • Institute for Clinical Genetics

External person

Pasquale Parisi

  • IRCCS Ospedale pediatrico Bambino Gesù - Roma

External person

Sulagna C. Saitta

  • University of Pennsylvania
  • Division of Human Genetics
  • Department of Pediatrics
  • The Children’s Hospital of Philadelphia
  • St. Louis University
  • Genet. Children's Hosp. Philadelphia
  • University of Southern California

External person

Edwin H. Cook

  • University of Illinois at Chicago
  • University of Illinois at Urbana-Champaign
  • University of Washington
  • Institute for Juvenile Research, Department of Psychiatry, University of Illinois at Chicago
  • University of Chicago
  • Communications Department
  • Duke University
  • Associate Professor of Psychiatry
  • Department of Psychiatry
  • Institute for Juvenile Research
  • Institute for Juvenile Research
  • Department of Psychiatry
  • Department of Psychiatry
  • Programm Child and Adolescent Anxiety Disorders
  • University of Illinois
  • Department of Psychiatry and Behavioral Medicine
  • Children's Hospital and Regional Medical Center Seattle
  • University of Illinois
  • University of Illinois at Urbana-Champaign
  • Seattle Children's Hospital

External person

Jonathan G.L. Mullins

  • Swansea University

External person

Timothy D. Babatz

  • University of Chicago

External person

Susan Bressman

  • Yeshiva University
  • Alan and Barbara Mirken Department of Neurology
  • Beth Israel Medical Center
  • Columbia University

External person

Esmee Kasteleijn

  • Erasmus University Rotterdam

External person

Jonathan A. Perkins

  • University of Washington
  • Seattle Children's Hospital

External person

Terence D. Sanger

  • University of Southern California
  • Department of Biomedical Engineering, Neurology and Biokinesiology
  • Deptartments of Biomedical Engineering, Biokinesiology, and Neurology

External person

Maarten H. Lequin

  • Utrecht University
  • Erasmus University Rotterdam
  • Erasmus MC – Sophia Children's Hospital

External person

Emily G. Spencer

  • Rockefeller University
  • University of California

External person

Beth A. Drolet

  • Medical College of Wisconsin
  • Department of Dermatology
  • University of Wisconsin
  • University of Wisconsin
  • Children's Hospital of Wisconsin Wauwatosa

External person

Mary C. O'Driscoll

  • Imperial College Healthcare NHS Trust
  • University of Manchester

External person

Judith Allanson

  • University of Ottawa
  • Centre hospitalier pour enfants de l'est de l'Ontario
  • Childrens Hospital of Eastern Ontario
  • Department of Genetics
  • Department of Genetics

External person

N. I. Wolf

  • Heidelberg University 
  • Vrije Universiteit Amsterdam

External person

Sharon Minnerath

  • University of Minnesota Duluth
  • University of Minnesota Twin Cities
  • Department of Pharmacology
  • Molecular Diagnostics Laboratory
  • University of Minnesota
  • Center for Animal Health and Food Safety
  • University of Minnesota Masonic Children's Hospital
  • Department of Laboratory Medicine and Pathology
  • Minneapolis Vet. Aff. Medical Center
  • University of Minnesota

External person

Martina Wilke

  • Erasmus University Rotterdam

External person

Michael J. Bamshad

  • University of Washington
  • Division of Medical Genetics
  • Children's Hospital and Regional Medical Center Seattle
  • Division of Genetic Medicine
  • Seattle Children's Hospital
  • Department of Pediatrics

External person

Aldon E. Clark

  • Laguna Niguel

External person

Andreas Zankl

  • University of Queensland
  • University of Queensland Centre for Clinical Research

External person

Miriam Iannicelli

  • IRCCS Ospedale Casa Sollievo della Sofferenza - San Giovanni Rotondo (FG)
  • University of Rome La Sapienza

External person

C. Romano

  • IRCCS Oasi di Maria Santissima - Troina (EN)
  • Unità Operativa Complessa di Pediatria e Genetica Medica

External person

Marilù Di Sabato

  • IRCCS Ospedale pediatrico Bambino Gesù - Roma

External person

Rita Fischetto

  • UO Metabolic Disease-Medical Genetics

External person

Norma J. Nowak

  • Roswell Park Cancer Institute
  • Department of Cancer Genetics
  • SUNY Buffalo
  • University of Catania

External person

Paul Kuentz

  • Universite de Franche-Comte
  • Universite de Bourgogne
  • Universite Bourgogne Franche-Comte

External person

Eva Klopocki

  • Charite - Universitatsmedizin Berlin

External person

Bernard Stuart

  • University College Dublin

External person

Margherita Silengo

  • IRCCS Istituto Giannina Gaslini - Genova
  • University of Turin
  • Department of Pediatrics
  • Laboratorio de Genetica Molecolare

External person

Valentina Stanley

  • University of California at San Diego
  • University of California

External person

Alessandra Ferlini

  • University of Ferrara
  • Department of Medical Sciences UOL of Medical Genetics

External person

Gill Bejerano

  • Stanford University

External person

Lauren Plawner

  • Children's Hospital and Regional Medical Center Seattle

External person

Michele Mehaffey

  • University of Washington
  • Leidos Biomedical Research, Inc.
  • Leidos Inc

External person

Carlos A. Bacino

  • Baylor College of Medicine
  • Jan and Dan Duncan Neurological Research Institute
  • Baylor Genetics, LLC

External person

Han G. Brunner

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

External person

Daniel Doyle

  • Nemours Children's Clinic

External person

Boris Keren

  • Sorbonne Université
  • Departments of Genetics
  • Cochin Institute
  • AP-HP Assistance Publique - Hopitaux de Paris

External person

Satyamaanasa Polubothu

  • University College London

External person

Christel Thauvin

  • Universite de Bourgogne
  • Universite Bourgogne Franche-Comte

External person

M. Pollazzon

  • Azienda Ospedaliera Santa Maria Nuova di Reggio Emilia

External person

Eric A. Swanson

  • University of Chicago

External person

Dennis E. Bulman

  • Ottawa Hospital Research Institute
  • University of Ottawa
  • Regenerative Medicine Program
  • McGill University
  • Centre hospitalier pour enfants de l'est de l'Ontario

External person

Alain Bron

  • Universite de Bourgogne

External person

Kim M. Keppler-Noreuil

  • Children's National Medical Center
  • National Human Genome Research Institute
  • University of Iowa

External person

Deborah Stabley

  • Alfred I. duPont Hospital for Children
  • Nemours Children's Clinic

External person

D. Greco

  • IRCCS Oasi di Maria Santissima - Troina (EN)

External person

Patricia L. Kramer

  • Oregon Health and Science University
  • Indiana University School of Medicine Indianapolis

External person

Maarten Fornerod

  • Erasmus University Rotterdam

External person

Philippine Garret

  • Universite de Bourgogne
  • Universite Bourgogne Franche-Comte

External person

Marilyn C. Jones

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

External person

Geneviève Bernard

  • McGill University
  • Research Institute of the McGill University Health Centre
  • McGill University Department of Surgery

External person

Nicolas Chassaing

  • Hopital Purpan
  • Service de Génétique Médicale
  • Department of Medical Genetics
  • CHU de Toulouse
  • Universite de Toulouse

External person

Stephen P. Robertson

  • University of Otago

External person

Maximilian Muenke

  • National Institutes of Health
  • University of Pennsylvania
  • Depts. of Pediatrics and Genetics
  • Medical Genetics Branch
  • Department of Pediatrics
  • Medical Genetics Branch
  • The Children’s Hospital of Philadelphia
  • National Human Genome Research Institute
  • Genet. Children's Hosp. Philadelphia
  • St. Louis University

External person

H. G. Brunner

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

External person

Denise W. Metry

  • Baylor College of Medicine
  • Department of Dermatology

External person

Dina J. Zand

  • Children's National Medical Center
  • Children's National Medical Center

External person

Janine Altmüller

  • Institute of Human Genetics
  • University of Cologne
  • Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associat. Diseases (CECAD)
  • Cologne Center for Genomics
  • Center for Molecular Medicine Cologne (CMMC)

External person

Y. J. Crow

  • St James's University Hospital
  • Imperial College Healthcare NHS Trust
  • Cochin Institute
  • Université Paris Descartes Sorbonne Paris Cité
  • University of Edinburgh
  • University of Manchester
  • Université de Paris

External person

F. Stanzial

  • General Regional Hospital Bolzano
  • Regional Hospital of Bolzano

External person

Sahar N. Saleem

  • Cairo University

External person

Jenny C. Taylor

  • University of Oxford
  • National Institute for Health Research

External person

R. Pagon

  • Yakima Valley Memorial Hospital
  • University of Washington
  • Children's Hospital and Regional Medical Center Seattle
  • Genetics Clinic
  • Department of Pediatrics
  • Seattle Children's Hospital
  • Indiana University School of Medicine Indianapolis
  • Medical College of Wisconsin

External person

Laurent Guibaud

  • Hospices Civils de Lyon

External person

Virginia E. Kimonis

  • University of California at Irvine
  • Department of Pediatrics
  • Boston Children's Hospital

External person

John C. Carey

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

External person

Anna Lehman

  • University of British Columbia

External person

Katia Sol-Church

  • Alfred I. duPont Hospital for Children
  • University of Virginia
  • Nemours Children's Clinic

External person

B. Talim

  • Hacettepe University

External person

John R. Ainsworth

  • Birmingham Women's and Children's NHS Foundation Trust
  • Sandwell and West Birmingham Hospitals NHS Trust

External person

Xianhua Piao

  • Harvard University
  • Division of Newborn Medicine
  • Department of Medicine
  • Boston Children's Hospital
  • Howard Hughes Medical Institute

External person

Beth Martin

  • University of Washington

External person

Robert B. Hufnagel

  • National Institutes of Health
  • University of Cincinnati
  • Cincinnati Children's Hospital Medical Center

External person

Dana M. Jensen

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

External person

Luigina Spaccini

  • Ospedale dei Bambini Vittore Buzzi
  • IRCCS Fondazione Istituto Neurologico Carlo Besta - Milano

External person

Earmonn R. Maher

  • University of Birmingham
  • Section of Medical and Molecular Genetics
  • Birmingham Women's and Children's NHS Foundation Trust

External person

Ingeborg Krägeloh-Mann

  • University of Tübingen

External person

Maria Teresa Divizia

  • IRCCS Istituto Giannina Gaslini - Genova

External person

Michèle Mathieu-Dramard

  • Universite de Picardie Jules Verne

External person

Randall A. Bly

  • Seattle Children's Hospital
  • University of Washington

External person

Stephanie L. Bielas

  • Howard Hughes Medical Institute
  • University of California

External person

Huseyin Per

  • Erciyes University

External person

E. Blair

  • Oxford University Hospitals NHS Foundation Trust
  • Radcliffe Hospital

External person

Bryce M. Paschal

  • University of Virginia

External person

Alice Steinbrecher

  • Sorbonne Université
  • Institut de Myologie
  • Sorbonne Universités-MNHN-CNRS-UPMC
  • University of Duisburg-Essen
  • Free University of Berlin

External person

Didier Bessis

  • CHU Montpellier

External person

Ordan J. Lehmann

  • University of Alberta

External person

Margot I. Van Allen

  • University of Liege
  • University of British Columbia
  • Child and Family Research Institute, Canada

External person

Laurie E. Seltzer

  • University of Rochester

External person

J. M. Friedman

  • University of British Columbia

External person

J. H. Livingston

  • Leeds General Infirmary

External person

Jiri Vajsar

  • University of Toronto
  • Hospital for Sick Children University of Toronto

External person

Charlotta Diesen

  • University of Helsinki

External person

Jens Bunt

  • University of Queensland

External person

L. L. Dudlicek

  • University of Chicago

External person

Helga V. Toriello

  • Spectrum Health

External person

Nenad Šestan

  • Yale University

External person

E. Sheridan

  • St James's University Hospital
  • Leeds
  • Wellcome Trust

External person

Robert J. Hopkin

  • Cincinnati Children's Hospital Medical Center
  • University of Cincinnati
  • Division of Human Genetics
  • Division of Human Genetics
  • Department of Pediatrics
  • Division of Biostatistics and Epidemiology
  • Division and Program in Human Genetics

External person

Evan August Boyle

  • Stanford University

External person

Johannes R. Lemke

  • Leipzig University

External person

Giuseppe Barrano

  • Mendel Institute
  • University of Rome La Sapienza
  • IRCCS Ospedale Casa Sollievo della Sofferenza - San Giovanni Rotondo (FG)

External person

Adnan Yuksel

  • Istanbul University

External person

Chirag Patel

  • Royal Brisbane and Women's Hospital

External person

Melissa Carter

  • Centre hospitalier pour enfants de l'est de l'Ontario
  • Hospital for Sick Children University of Toronto

External person

Arthur Sorlin

  • Universite de Bourgogne
  • Universite Bourgogne Franche-Comte

External person

Manju A. Kurian

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

External person

Neil C. Chi

  • University of California at San Diego

External person

John A. Kessler

  • Northwestern University
  • Ken and Ruth Davee Department of Neurology and Clinical Neurological Sciences

External person

Alison M. Muir

  • University of Washington
  • Department of Pediatrics

External person

Kristina M. Allen

  • Harvard University
  • Beth Israel-Deaconess Medical Center

External person

C. E. Schwartz

  • Greenwood Genetic Center
  • JC Self Research Institute of Human Genetics
  • Greenwood Genetics Center

External person

David Michelson

  • Loma Linda University Health

External person

Ian D. Krantz

  • University of Washington
  • University of Pennsylvania
  • Department of Medicine
  • Department of Pediatrics
  • Dept. of Molecular Biotechnology
  • The Children’s Hospital of Philadelphia
  • Department of Medicine
  • St. Louis University
  • Genet. Children's Hosp. Philadelphia

External person

Pedro Sanchez-Lara

  • University of Southern California
  • Cedars-Sinai Medical Center

External person

Paul Gissen

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

External person

Katherine L. Helbig

  • Division of Clinical Genomics
  • Division of Neurology
  • University of Pennsylvania
  • The Children’s Hospital of Philadelphia
  • Ambry Genetics
  • Division of Clinical Genomics
  • Genet. Children's Hosp. Philadelphia

External person

Judith A. Badner

  • University of Chicago
  • Howard University
  • Washington University St. Louis
  • Johns Hopkins University
  • National Institutes of Health
  • University of California at Irvine
  • University of California at San Diego
  • University of Pennsylvania
  • Rush University
  • University of Iowa
  • Indiana University-Purdue
  • Department of Psychiatry
  • Department of Psychiatry
  • Department of Psychiatry
  • Department of Psychiatry
  • Department of Biochemistry and Molecular Biology
  • Department of Psychiatry
  • Department of Psychiatry and Behavioral Sciences
  • Department of Psychiatry
  • Unit on the Genetic Basis of Mood and Anxiety Disorders
  • Department of Psychiatry
  • Department of Psychiatry
  • Laboratory of Clinical Science
  • Departments of Psychiatry
  • Department of Psychiatry and Behavioral Neuroscience
  • University of Iowa Carver College of Medicine
  • Department of Psychiatry
  • Department of Human Genetics
  • University of California at San Diego
  • Department of Psychiatry
  • St. Louis University
  • Department of Psychiatry

External person

Haluk Topaloglu

  • Hacettepe University

External person

Kristina M. Adams Waldorf

  • University of Washington
  • Department of Obstetrics and Gynecology
  • Center on Human Development and Disability
  • University of Gothenburg

External person

Galen Breningstall

  • Gillette Children's Specialty Healthcare
  • Fairview Health Service
  • University of Minnesota Hospitals
  • University of Minnesota Duluth
  • Park Nicollet Health System
  • Park Nicollet Health Services
  • University of Minnesota Twin Cities
  • Pediatric Neurology
  • Department of Neurology and Pediatrics
  • Gillette Children's Specialty Healthcare
  • University of Minnesota
  • Department of Neurology
  • Center for Animal Health and Food Safety
  • University of Minnesota Masonic Children's Hospital
  • Medical School
  • Minnesota University Hospital/Clinic
  • Hennepin County Medical Center
  • University of Minnesota
  • Noran Neurology Clinic
  • Kaiser Permanente
  • University of Connecticut
  • Park Nicollet Medical Center
  • Medical College of Wisconsin
  • Yale University
  • Indiana University School of Medicine Indianapolis

External person

S. Karamohamed

  • Boston University
  • Department of Neurology
  • Boston University Alzheimer's Disease Center
  • University of Chicago

External person

Bridget A. Fernandez

  • Memorial University of Newfoundland
  • Broad Institute
  • Massachusetts Institute of Technology
  • Discipline of Genetics
  • Disciplines of Genetics and Medicine
  • Faculty of Medicine

External person

Jeremy Schwartzentruber

  • McGill University
  • Wellcome Trust Sanger Institute

External person

Stefania Maria Bova

  • Ospedale dei Bambini Vittore Buzzi

External person

Robert F. Hevner

  • Department of Neurological Surgery
  • Children's Hospital and Regional Medical Center Seattle
  • University of California at San Diego
  • University of Washington

External person

Rosanna Weksberg

  • Hospital for Sick Children University of Toronto

External person

Yannis Duffourd

  • Universite de Bourgogne
  • Universite Bourgogne Franche-Comte

External person

Irene A. Aligianis

  • Birmingham Women's and Children's NHS Foundation Trust
  • University of Birmingham
  • University of Edinburgh

External person

Esther Carmi

  • Dermatology Office

External person

Usha Kini

  • Oxford University Hospitals NHS Foundation Trust
  • Oxford University Hospitals NHS Foundation Trust
  • Imperial College Healthcare NHS Trust

External person

Brian J. O'Roak

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

External person

Odile Boute

  • Université de Lille

External person

Virginia V. Michels

  • Cornell University
  • Mayo Clinic Rochester MN
  • Howard Hughes Medical Institute
  • Department of Medical Genetics
  • Department of Medical Genetics
  • Department of Physiology, Biochemistry and Pharmacology, New York, State Veterinary College
  • Department of Neurosciences and Pediatrics
  • Department of Cell Biology
  • Medical College of Wisconsin

External person

Malgorzata J.M. Nowaczyk

  • McMaster University

External person

Pierre Vabres

  • Universite de Bourgogne
  • Universite Bourgogne Franche-Comte

External person

Marcia Willing

  • Washington University St. Louis

External person

E. Said

  • St. Luke's Hospital Malta
  • Medical University of Vienna
  • Mater Dei Hospital

External person

Harry Schachter

  • University of Toronto
  • Hospital for Sick Children University of Toronto

External person

Virginie Carmignac

  • Lund University
  • Biomedical Centre
  • Lund University
  • Universite de Bourgogne
  • Universite Bourgogne Franche-Comte

External person

Jr Gale M.

  • New York University
  • Skirball Institute
  • Department of Immunology
  • University of Washington
  • Washington Primate Research Center
  • Washington National Primate Research Center

External person

P. Bayrak-Toydemir

  • University of Utah

External person

Laura Baker

  • Alfred I. duPont Hospital for Children
  • Nemours Children's Clinic
  • Children's Hospital and Regional Medical Center Seattle

External person

A. Mégarbané

  • Saint Joseph University

External person

Ennio Del Giudice

  • University of Naples Federico II

External person

Veronica A. Kinsler

  • University College London

External person

G. Incorpora

  • University of Catania
  • Clinica Pediatrica I

External person

V. Mejaski-Bosnjak

  • University of Zagreb

External person

Lakshmi Rajagopal

  • University of Washington
  • Children's Hospital and Regional Medical Center Seattle
  • Center for Childhood Infections and Prematurity Research
  • Department of Pediatrics
  • Department of Pediatric Infectious Diseases
  • Department of Pediatric Infectious Diseases
  • Department of Pediatrics
  • Seattle Biomedical Research Institute

External person

Delphine Heron

  • Département de génétique et embryologie médicale
  • Sorbonne Université
  • Hopital Armand-Trousseau
  • Centre de Référence Déficiences Intellectuelles de Causes Rares
  • Departments of Genetics
  • Sorbonne Université
  • Sorbonne Université
  • Sorbonne Universités-MNHN-CNRS-UPMC
  • AP-HP Assistance Publique - Hopitaux de Paris

External person

Stephen Ashwal

  • Loma Linda University Health
  • American Academy of Neurology

External person

M. O. Dorschner

  • University of Wisconsin-Milwaukee
  • University of Washington
  • Division of Medical Genetics
  • Department of Biological Sciences
  • Department of Biological Sciences
  • Department of Psychiatry and Behavioral Sciences
  • Department of Pathology

External person

Yuri A. Zarate

  • University of Arkansas for Medical Sciences

External person

Linda J. Richards

  • University of Queensland

External person

Guillaume Captier

  • CHU Montpellier

External person

Ganeshwaran H. Mochida

  • Massachusetts General Hospital
  • Harvard University
  • Boston Children's Hospital

External person

Ali Fatemi

  • Johns Hopkins University
  • Kennedy Krieger Institute
  • Genetics Laboratories
  • Department of Neurogenetics
  • F. M. Kirby Research Center for Functional Brain Imaging
  • Division of Neurogenetics
  • Departments of Neurology, Pediatrics, and Physical Medicine and Rehabilitation
  • F.M. Kirby Ctr. Funct. Brain Imaging
  • Department of Neurogenetics
  • Neurogenetics Research Center
  • Department of Neurology
  • Division of Neurogenetics
  • Department of Neurology
  • Membership of the SPARK Consortium Members is Provided in the Acknowledgements

External person

H. Van Esch

  • KU Leuven

External person

Mandy Ma

  • SUNY Buffalo

External person

D. Loncarevic

  • University of Zagreb

External person

Julie L. Lauzon

  • University of Calgary
  • Alberta Children's Hospital

External person

Christina R. Fagerberg

  • University of Southern Denmark

External person

Martino Ruggieri

  • University of Catania

External person

Louanne Hudgins

  • Stanford University

External person

Steven N. Lisgo

  • Newcastle University

External person

Liu Lin Thio

  • Washington University St. Louis
  • University of Washington
  • Department of Neurology

External person

Arnaud Lafon

  • Universite de Bourgogne

External person

Ali Jalali

  • Northwestern University

External person

D. Shaw

  • University of Washington
  • University of Pennsylvania
  • Department of Radiology
  • Department of Radiology
  • Center on Human Development and Disability
  • University of Washington
  • Children's Hospital and Regional Medical Center Seattle

External person

Bernard Devauchelle

  • Universite de Picardie Jules Verne

External person

Francesco Muntoni

  • Hammersmith Hospital
  • Imperial College London
  • Dubowitz Neuromuscular Centre
  • University College London
  • Great Ormond Street Hospital
  • Dept. of Paediatr./Neonatal Medicine
  • Department of Paediatrics
  • Imperial College Healthcare NHS Trust
  • Stanford University
  • Great Ormond Street Hospital for Children NHS Trust
  • Imperial College of Medicine

External person

Jessica Roseberry

  • University of Chicago
  • Cardiac Pacemakers Inc.

External person

Ann Haskins Olney

  • University of Nebraska Medical Center

External person

Jean Benoît Courcet

  • Universite de Bourgogne
  • Universite Bourgogne Franche-Comte

External person

Heather L. Ward

  • University of Chicago

External person

Catherine Gondry-Jouet

  • Universite de Picardie Jules Verne

External person

Megan E. Grout

  • University of Washington

External person

Christina A. Gurnett

  • Washington University St. Louis

External person

Rikke S. Møller

  • University of Copenhagen
  • University of Southern Denmark
  • Institute of Regional Health Research

External person

Elaine Wirrell

  • Mayo Clinic Rochester MN
  • Department of Neurology
  • Department of Pediatrics
  • Division of Child and Adolescent Neurology
  • Department of Pediatric Neurology

External person

M. T. Cho

  • GeneDx
  • GeneDX Inc
  • GeneDx

External person

J. R. Lupski

  • Baylor College of Medicine
  • LSU Health Sciences Center - New Orleans
  • Jan and Dan Duncan Neurological Research Institute
  • Department of Pediatrics
  • Department of Molecular and Human Genetics
  • USDA/ARS Children's Nutrition Research Center
  • Human GenomeSequencing Center
  • Department of Neurology
  • Texas Children’s Hospital
  • BCM

External person

Fiona J. Stewart

  • Northern Ireland Genetics Service
  • University of Aberdeen
  • Belfast Health and Social Care Trust
  • Department of Medical Genetics
  • Division of Medical Genetics
  • Cambridge University Hospitals NHS Foundation Trust
  • Belfast City Hospital

External person

Zöe Powis

  • Ambry Genetics
  • Ambry Genetics Corporation
  • Ambry Genetics

External person

Ian G. Phelps

  • University of Washington
  • Seattle Children's Hospital

External person

Adam Spencer

  • University of Virginia

External person

June Chung

  • University of Chicago

External person

Mustafa A.M. Salih

  • King Saud University

External person

Anne M. Slavotinek

  • University of California at San Francisco
  • Institute of Human Genetics
  • Department of Pediatrics
  • Memory and Aging Center

External person

Leontine M.A. Van Unen

  • Erasmus University Rotterdam

External person

Timothy W. Yu

  • Harvard University
  • Division of Genetics
  • Division of General Pediatrics
  • Boston Children's Hospital
  • Massachusetts General Hospital
  • Membership of the SPARK Consortium Members is Provided in the Acknowledgements

External person

Daphne Heijsman

  • Erasmus University Rotterdam

External person

Inessa Grinberg

  • University of Chicago
  • University of California at Los Angeles

External person

Michael Berg

  • University of Rochester
  • Department of Neurology

External person

Laura V. Vandervore

  • Vrije Universiteit Brussel
  • Erasmus University Rotterdam

External person

Sima Kheradmand Kia

  • Erasmus University Rotterdam

External person

Elizabeth Berry-Kravis

  • Rush University
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Neurological Sciences
  • Department of Biochemistry
  • Membership of the SPARK Consortium Members is Provided in the Acknowledgements

External person

Umut Altunoglu

  • Istanbul University

External person

Cathy A. Stevens

  • University of Tennessee, Chattanooga
  • Erlanger Health System

External person