Wojciech Wiszniewski

Associate Professor

Calculated based on number of publications stored in Pure and citations from Scopus
1997 …2023

Research activity per year

Network

J. R. Lupski

  • Baylor College of Medicine
  • Texas Children's Hospital
  • Human Genome Sequencing Center, BCM
  • Texas Children's Cancer Center
  • Department of Molecular and Human Genetics
  • Human Genome Sequencing Center
  • USDA/ARS Children's Nutr. Res. Ctr.
  • Diagnostic Sequencing Laboratory
  • Department of Pediatrics
  • Department of Molecular and Human Genetics
  • Program in Cell and Molecular Biology
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Human Genome Sequencing Center, BCM
  • Institute for Molecular Genetics
  • Department of Pediatrics
  • Dept of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Pediatrics
  • Medical Genetics Laboratories
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Pediatrics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Human Genome Sequencing Center, BCM
  • Human Genome Sequencing Center, BCM
  • Human Genome Sequencing Center, BCM
  • Texas Children’s Hospital
  • Department of Molecular and Human Genetics
  • BCM
  • Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics
  • Texas Children's Hospital Houston

External person

Richard A. Gibbs

  • Baylor College of Medicine
  • BC Cancer Agency
  • Massachusetts Institute of Technology
  • University of British Columbia
  • Broad Institute
  • Greater Baltimore Medical Center
  • Human Genome Sequencing Center, BCM
  • National Institutes of Health
  • Human Genome Sequencing Center
  • Baylor Miraca Genetics Laboratories
  • Department of Molecular and Human Genetics
  • Canada's Michael Smith Genome Sciences Centre
  • Cancer Genome Atlas Program Office
  • Department of Molecular and Human Genetics
  • Human Genome Sequencing Center, BCM
  • Texas Cancer Research Biobank (TCRB)
  • Institute for Molecular Genetics
  • Milton J. Dance Head and Neck Center
  • Diagnostic Sequencing Laboratory
  • Department of Molecular and Human Genetics
  • Human Genome Sequencing Center, BCM
  • Human Genome Sequencing Center, BCM
  • Human Genome Sequencing Center, BCM
  • Greater Baltimore Medical Center
  • Department of Molecular and Human Genetics
  • BCM
  • Institute for Molecular Genetics
  • Massachusetts Institute of Technology
  • Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics
  • British Columbia Cancer Agency
  • Baylor-Hopkins Center for Mendelian Genomics
  • Membership of the SPARK Consortium Members is Provided in the Acknowledgements
  • Mayo Clinic Rochester, MN
  • Ontario Institute for Cancer Research

External person

Shalini Jhangiani

  • Baylor College of Medicine
  • Human Genome Sequencing Center, BCM
  • Human Genome Sequencing Center
  • Human Genome Sequencing Center, BCM
  • Department of Molecular and Human Genetics
  • Diagnostic Sequencing Laboratory
  • Human Genome Sequencing Center, BCM
  • Human Genome Sequencing Center, BCM
  • Human Genome Sequencing Center, BCM
  • BCM
  • Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics

External person

Tomasz Gambin

  • Warsaw University of Technology
  • Warsaw University of Technology
  • Instytut Matki I Dziecka
  • Baylor College of Medicine
  • Institute of Computer Science, Warsaw University of Technology
  • Department of Medical Genetics
  • Department of Molecular and Human Genetics
  • Institute of Computer Science
  • Institute of Computer Science
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Institute of Computer Science of the Polish Academy of Sciences
  • BCM
  • Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics
  • Institute of Mother and Child

External person

Donna M. Muzny

  • Baylor College of Medicine
  • BC Cancer Agency
  • University of British Columbia
  • National Institutes of Health, Bethesda
  • Human Genome Sequencing Center, BCM
  • Model Organism Screening Center
  • Human Genome Sequencing Center
  • Department of Molecular and Human Genetics
  • Canada's Michael Smith Genome Sciences Centre
  • Human Genome Sequencing Center, BCM
  • Institute for Molecular Genetics
  • Diagnostic Sequencing Laboratory
  • Whole Genome Laboratory
  • Human Genome Sequencing Center, BCM
  • Human Genome Sequencing Center, BCM
  • Human Genome Sequencing Center, BCM
  • Department of Molecular and Human Genetics
  • BCM
  • Institute for Molecular Genetics
  • Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics
  • National Institutes of Health
  • Membership of the SPARK Consortium Members is Provided in the Acknowledgements
  • University of Texas MD Anderson Cancer Center
  • British Columbia Cancer Agency
  • Pompeu Fabra University
  • Barcelona Institute for Science and Technology
  • University of Tübingen

External person

Eric Boerwinkle

  • University of Texas Health Science Center
  • University of Texas Health Science Center at Houston
  • Baylor College of Medicine
  • Human Genetics Center
  • Department of Molecular and Human Genetics
  • Human Genome Sequencing Center
  • Human Genetics Center and Institute of Molecular Medicine
  • Human Genetics Center
  • School of Public Health
  • BCM
  • Human Genetics Center
  • Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics

External person

Jerzy Bal

  • Instytut Matki I Dziecka
  • Miroslaw Mossakowski Medical Research Center of the Polish Academy of Sciences
  • Department of Medical Genetics
  • Department of Medical Genetics
  • Department of Audiology
  • Polish Academy of Sciences
  • National Research Centre of Mother and Child
  • Institute of Mother and Child

External person

Pawel Gawlinski

  • Instytut Matki I Dziecka
  • Department of Medical Genetics
  • Institute of Mother and Child

External person

D. Pehlivan

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

External person

Claudia Gonzaga-Jauregui

  • Baylor College of Medicine
  • Duke University
  • Regeneron Pharmaceuticals, Inc.
  • Department of Molecular and Human Genetics
  • Center for Human Disease Modeling
  • Department of Molecular and Human Genetics
  • Regeneron Genetics Center

External person

Ender Karaca

  • Baylor College of Medicine
  • Department of Molecular and Human Genetics, BCM
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics, BCM
  • Department of Molecular and Human Genetics, BCM
  • Department of Molecular and Human Genetics, BCM
  • Department of Molecular and Human Genetics, BCM
  • Department of Molecular and Human Genetics
  • BCM
  • Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics
  • University of Alabama at Birmingham

External person

Zeynep H. Coban Akdemir

  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics
  • University of Texas Health Science Center at Houston

External person

Monika Bekiesinska-Figatowska

  • Instytut Matki I Dziecka
  • Department of Diagnostic Imaging
  • Institute of Mother and Child

External person

Mateusz Dawidziuk

  • Department of Medical Genetics
  • Instytut Matki I Dziecka
  • Institute of Mother and Child

External person

Jill V. Hunter

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

External person

E. Obersztyn

  • Instytut Matki I Dziecka
  • Department of Medical Genetics
  • Department of Medical Genetics
  • Department of Audiology
  • Institute of Mother and Child

External person

Tamar Harel

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

External person

Marie Claude Fondaneche

  • Université Paris 5
  • Institute of Mother and Child
  • Newcastle upon Tyne Hospitals NHS Foundation Trust
  • Institut national de la santé et de la recherche médicale
  • Max Planck Institute of Immunobiology and Epigenetics
  • Nencki Institute of Experimental Biology of the Polish Academy of Sciences
  • Hans-Spemann Laboratory
  • Université Paris Cité
  • Newcastle General Hospital
  • Instytut Matki I Dziecka

External person

Barbara Lisowska-Grospierre

  • Instytut Matki I Dziecka
  • Max Planck Institute of Immunobiology and Epigenetics
  • Newcastle General Hospital
  • Centre de recherche des Cordeliers
  • Université Paris 5
  • Nencki Institute of Experimental Biology of the Polish Academy of Sciences
  • Newcastle upon Tyne Hospitals NHS Foundation Trust
  • Polish Academy of Sciences
  • Hans-Spemann Laboratory
  • INSERM U 429
  • Institute of Mother and Child
  • Institut national de la santé et de la recherche médicale
  • Université Paris Cité

External person

Ian M. Campbell

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

External person

John W. Belmont

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

External person

Vernon Reid Sutton

  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Dept of Molecular and Human Genetics
  • Huffington Center on Aging
  • Texas Children's Hospital Houston

External person

Alain Fischer

  • INSERM U768
  • Institut national de la santé et de la recherche médicale
  • Instytut Matki I Dziecka
  • Max Planck Institute of Immunobiology and Epigenetics
  • Newcastle General Hospital
  • Centre de recherche des Cordeliers
  • Université Paris 5
  • Nencki Institute of Experimental Biology of the Polish Academy of Sciences
  • Université Paris-Descartes
  • Department of Pediatric Immunology, Hematology and Rheumatology
  • Newcastle upon Tyne Hospitals NHS Foundation Trust
  • Polish Academy of Sciences
  • Hans-Spemann Laboratory
  • INSERM U 429
  • Université Paris Cité
  • Institute of Mother and Child

External person

Matthew N. Bainbridge

  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • Human Genome Sequencing Center
  • Graduate Program in Structural and Computational Biology and Molecular Biophysics

External person

Jill Rosenfeld

  • Signature Genomics
  • Signature Genomic Laboratories
  • PerkinElmer, Inc.
  • PerkinElmer Inc.
  • Baylor College of Medicine
  • National Institutes of Health, Bethesda
  • PerkinElmer, Inc.
  • Model Organism Screening Center
  • Signature Genomic Laboratories
  • Department of Molecular and Human Genetics
  • Signature Genomics Laboratories
  • PerkinElmer, Inc.
  • National Institutes of Health
  • Baylor Genetics, LLC
  • BCM

External person

Arthur L. Beaudet

  • Baylor College of Medicine
  • Northwestern University
  • Howard Hughes Medical Institute
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Human and Molecular Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Departments of Cell Biology and Pediatrics
  • Institute for Molecular Genetics
  • Dept of Molecular and Human Genetics
  • Texas Children's Cancer Center
  • Department of Pediatrics
  • Department of Molecular and Human Genetics
  • Medical Genetics Laboratories
  • USDA/ARS Children's Nutr. Res. Ctr.
  • Membership of the SPARK Consortium Members is Provided in the Acknowledgements

External person

Samantha Penney

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

External person

Alicja Goszczanska-Ciuchta

  • Clinic of Neurology of Children and Adolescents
  • Instytut Matki I Dziecka
  • Institute of Mother and Child

External person

Seema R. Lalani

  • Model Organism Screening Center
  • Baylor College of Medicine
  • National Institutes of Health, Bethesda
  • Department of Molecular and Human Genetics
  • Texas Children's Cancer Center
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Pediatrics
  • Medical Genetics Laboratories
  • National Institutes of Health
  • Baylor Genetics, LLC
  • Texas Children's Hospital Houston
  • BCM

External person

Asbjørg Stray-Pedersen

  • Baylor College of Medicine
  • University of Oslo
  • Norwegian National Unit for Newborn Screening
  • Department of Pediatrics
  • Norwegian National Unit for Newborn Screening
  • Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics
  • Center for Human Immunobiology
  • Department of Molecular and Human Genetics
  • Texas Children's Hospital Houston

External person

Christine R. Beck

  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics

External person

Jordan S. Orange

  • Harvard University
  • National Institutes of Health, Bethesda
  • Baylor College of Medicine
  • Center for Human Immunobiology
  • Texas Children's Cancer Center
  • Department of Pediatrics
  • Center for Human Immunobiology
  • Division of Immunology
  • Division of Pediatric Immunology
  • Columbia University
  • Current affiliation: Department of Pediatrics
  • National Institutes of Health
  • Texas Children's Hospital Houston
  • Boston Children's Hospital

External person

Catherine Alcaide-Loridan

  • Instytut Matki I Dziecka
  • Max Planck Institute of Immunobiology and Epigenetics
  • Newcastle General Hospital
  • Centre de recherche des Cordeliers
  • Université Paris 5
  • Institut national de la santé et de la recherche médicale
  • Nencki Institute of Experimental Biology of the Polish Academy of Sciences
  • INSERM U396
  • Newcastle upon Tyne Hospitals NHS Foundation Trust
  • Polish Academy of Sciences
  • Hans-Spemann Laboratory
  • Institute of Mother and Child
  • Université Paris Cité

External person

G. Barbieri

  • Instytut Matki I Dziecka
  • Max Planck Institute of Immunobiology and Epigenetics
  • Newcastle General Hospital
  • National Research Council of Italy
  • Centre de recherche des Cordeliers
  • Université Paris 5
  • Institut national de la santé et de la recherche médicale
  • Nencki Institute of Experimental Biology of the Polish Academy of Sciences
  • INSERM U396
  • Newcastle upon Tyne Hospitals NHS Foundation Trust
  • Polish Academy of Sciences
  • Hans-Spemann Laboratory
  • Institute of Mother and Child
  • Université Paris Cité

External person

D. Charron

  • One Lambda Inc.
  • Hôpital Saint Louis
  • Université Paris 7
  • Instytut Matki I Dziecka
  • Max Planck Institute of Immunobiology and Epigenetics
  • Newcastle General Hospital
  • Centre de recherche des Cordeliers
  • Université Paris 5
  • Institut national de la santé et de la recherche médicale
  • Nencki Institute of Experimental Biology of the Polish Academy of Sciences
  • INSERM U396
  • Newcastle upon Tyne Hospitals NHS Foundation Trust
  • Polish Academy of Sciences
  • Hans-Spemann Laboratory
  • Laboratoire d'Histocompatibilité et d'Immunologie
  • Institute of Mother and Child
  • Université Paris Cité

External person

Jennifer E. Posey

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

External person

Irena Hausmanowa-Petrusewicz

  • Miroslaw Mossakowski Medical Research Center of the Polish Academy of Sciences
  • Neuromuscular Unit
  • Polish Academy of Sciences

External person

Zeynep Hande Coban Akdemir

  • Department of Molecular and Human Genetics
  • Baylor College of Medicine
  • University of Texas Health Science Center at Houston
  • Center for Cancer Epigenetics
  • Graduate Program in Genes and Development
  • University of Texas MD Anderson Cancer Center

External person

Mohammad K. Eldomery

  • Baylor College of Medicine
  • Indiana University-Purdue University Indianapolis
  • Department of Pathology and Laboratory Medicine
  • Department of Molecular and Human Genetics
  • Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics
  • Indiana University Bloomington

External person

S. M. Leal

  • Baylor College of Medicine

External person

Yavuz Bayram

  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics

External person

E. Nowakowska-Szyrwinska

  • Instytut Matki I Dziecka
  • Department of Medical Genetics
  • Department of Audiology
  • Department of Audiology and Laryngology
  • Institute of Mother and Child
  • Department of Medical Genetics

External person

Gözde Yesil

  • Bezmialem Vakif University
  • Baylor College of Medicine
  • Department of Medical Genetics
  • Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics

External person

Françoise Selz

  • Université Paris 5
  • Université Paris Cité

External person

Alper Gezdirici

  • Istanbul University
  • Kanuni Sultan Suleyman Training and Research Hospital
  • Medical Genetics Department
  • Medical Genetics Section
  • Istanbul University - Cerrahpaşa
  • Basaksehir Cam and Sakura City Hospital

External person

Nicholas Katsanis

  • Duke University Medical Center
  • Johns Hopkins University
  • Johns Hopkins University School of Medicine
  • The Johns Hopkins University
  • Duke University
  • Center for Human Disease Modeling
  • Center for Human Disease Modeling
  • Department of Cell Biology
  • Department of Pediatrics
  • Institute of Genetic Medicine
  • McKusick-Nathans Institute of Genetic Medicine

External person

Chad A. Shaw

  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Dan L. Duncan Cancer Center
  • Baylor Genetics
  • Medical Genetics Laboratories
  • Department of Molecular and Human Genetics
  • Baylor Genetics, LLC

External person

Marta Jurek

  • Department of Medical Genetics
  • Instytut Matki I Dziecka
  • Institute of Mother and Child

External person

Marjorie A. Withers

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

External person

Sau W. Cheung

  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • Dept of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Medical Genetics Laboratories
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Baylor Genetics
  • Baylor Genetics, LLC

External person

Pawel Stankiewicz

  • Institute of Mother and Child
  • Baylor College of Medicine
  • Instytut Matki I Dziecka
  • Department of Molecular and Human Genetics
  • Dept of Molecular and Human Genetics
  • Department of Medical Genetics
  • Department of Molecular and Human Genetics
  • Department of Medical Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Medical Genetics Laboratories
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Baylor Genetics
  • Institute of Mother and Child
  • Baylor Genetics, LLC

External person

Jason R. Willer

  • Duke University
  • Center for Human Disease Modeling
  • Center for Human Disease Modeling

External person

Christine Eng

  • Baylor College of Medicine
  • Baylor Genetics
  • Model Organism Screening Center
  • Baylor Miraca Genetics Laboratories
  • Department of Molecular and Human Genetics
  • Dept of Molecular and Human Genetics
  • Texas Children's Cancer Center
  • National Institutes of Health, Bethesda
  • Molecular and Human Genetics
  • Whole Genome Laboratory
  • Baylor Genetics, LLC
  • National Institutes of Health
  • Membership of the SPARK Consortium Members is Provided in the Acknowledgements
  • BCM

External person

Sarah K. Nicholas

  • National Institutes of Health, Bethesda
  • Baylor College of Medicine
  • Model Organism Screening Center
  • Department of Pediatrics
  • Center for Human Immunobiology
  • Texas Children's Cancer Center
  • National Institutes of Health
  • Texas Children's Hospital Houston
  • BCM

External person

Viktor Steimle

  • Université de Sherbrooke
  • Université de Sherbrooke
  • Instytut Matki I Dziecka
  • Max Planck Institute of Immunobiology and Epigenetics
  • Newcastle General Hospital
  • Centre de recherche des Cordeliers
  • Université Paris 5
  • Nencki Institute of Experimental Biology of the Polish Academy of Sciences
  • Département de Biologie
  • Newcastle upon Tyne Hospitals NHS Foundation Trust
  • Polish Academy of Sciences
  • Hans-Spemann Laboratory
  • Institute of Mother and Child
  • Institut national de la santé et de la recherche médicale
  • Université Paris Cité

External person

Regie Lyn P Santos-Cortez

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

External person

Lorraine Potocki

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

External person

Pedro Mancias

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

External person

Patricia I. Bader

  • Genetics Center
  • Parkview Health Laboratories
  • Northeast Indiana Genetic Counseling Center
  • Parkview Hospital
  • Northeast Indiana Genetic Counseling Center

External person

Rafal Ploski

  • Instytut Matki I Dziecka
  • Department of Forensic Medicine
  • Institute of Mother and Child
  • Medical University of Warsaw

External person

Yuji Okamoto

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

External person

Yaping Yang

  • Department of Molecular and Human Genetics
  • Baylor College of Medicine
  • National Institutes of Health, Bethesda
  • Molecular and Human Genetics
  • Dept of Molecular and Human Genetics
  • Whole Genome Laboratory
  • Medical Genetics Laboratories
  • Baylor Genetics, LLC
  • National Institutes of Health
  • Model Organism Screening Center

External person

Cappucine Picard

  • Instytut Matki I Dziecka
  • Max Planck Institute of Immunobiology and Epigenetics
  • Newcastle General Hospital
  • Centre de recherche des Cordeliers
  • Université Paris 5
  • Nencki Institute of Experimental Biology of the Polish Academy of Sciences
  • Rockefeller University
  • Pediatric Hematology-Immunology and Rheumatology Unit
  • St. Giles Laboratory of Human Genetics of Infectious Diseases
  • Imagine Institute
  • Newcastle upon Tyne Hospitals NHS Foundation Trust
  • Polish Academy of Sciences
  • Hans-Spemann Laboratory
  • INSERM U 429
  • Study Center of Primary Immunodeficiency
  • Institute of Mother and Child
  • Institut national de la santé et de la recherche médicale
  • IHU Imagine, Université Paris Descartes, Hôpital Necker Enfants Malades
  • Université Paris Cité

External person

M. Khajavi

  • Baylor College of Medicine
  • Harvard University
  • Diagnostic Sequencing Laboratory
  • Department of Neurology
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Vascular Biology
  • Department of Neurology
  • Boston Children's Hospital

External person

Tadeusz Mazurczak

  • Instytut Matki I Dziecka
  • Miroslaw Mossakowski Medical Research Center of the Polish Academy of Sciences
  • Department of Medical Genetics
  • Department of Audiology
  • Polish Academy of Sciences
  • National Research Centre of Mother and Child
  • Institute of Mother and Child

External person

Carlos Bacino

  • Baylor College of Medicine
  • Model Organism Screening Center
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Texas Children's Cancer Center
  • Department of Molecular and Human Genetics
  • Baylor Genetics
  • Department of Pediatrics
  • Department of Molecular and Human Genetics
  • Medical Genetics Laboratories
  • Department of Molecular and Human Genetics
  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • Baylor Genetics, LLC
  • Texas Children's Hospital Houston
  • BCM

External person

Pawel Wlasienko

  • Institute of Mother and Child
  • Department of Medical Genetics
  • Instytut Matki I Dziecka

External person

Violet Gelowani

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

External person

Serkan Erdin

  • Broad Institute
  • Harvard University
  • Center for Human Genetic Research
  • Program in Medical and Population Genetics
  • Massachusetts General Hospital

External person

Maria Jedrzejowska

  • Miroslaw Mossakowski Medical Research Center of the Polish Academy of Sciences
  • Kliniccznej im. M. J. Mossakowskiego PAN
  • Neuromuscular Unit
  • Polish Academy of Sciences

External person

Françoise Le Deist

  • Université Paris 5
  • Université Paris Cité

External person

Kinga Szigeti

  • Harvard University
  • SUNY Buffalo
  • Baylor College of Medicine
  • Alzheimer's Disease and Memory Disorders Center
  • Department of Pathology
  • Department of Molecular and Human Genetics
  • Parkinson's Disease Center
  • Diagnostic Sequencing Laboratory
  • Department of Neurology

External person

L. Sobieszczanska-Radoszewska

  • Instytut Matki I Dziecka
  • Department of Medical Genetics
  • Department of Audiology
  • Institute of Mother and Child
  • Department of Medical Genetics

External person

R. A. Lewis

  • Baylor College of Medicine
  • Allergan, Inc.
  • Allergan Incorporated
  • Oregon Health and Science University
  • Vrije Universiteit Amsterdam
  • National Institutes of Health, Bethesda
  • Model Organism Screening Center
  • Diagnostic Sequencing Laboratory
  • Department of Ophthalmology
  • Department of Ophthalmology
  • Division of Diabetes, Endocrinology and Metabolism
  • USDA/ARS Children's Nutr. Res. Ctr.
  • Diagnostic Sequencing Laboratory
  • Department of Pediatrics
  • Department of Ophthalmology
  • Department of Molecular and Human Genetics
  • Department of Medicine
  • Departments of Ophthalmology
  • Dalhousie University
  • Institute for Molecular Genetics
  • Dept of Molecular and Human Genetics
  • Department of Ophthalmology
  • Texas Children's Cancer Center
  • Department of Molecular and Human Genetics
  • Johns Hopkins University

External person

Mehmed Musa Atik

  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics

External person

Lisa R. Forbes

  • Baylor College of Medicine
  • Department of Pediatrics
  • Center for Human Immunobiology
  • Texas Children's Cancer Center
  • Texas Children's Hospital Houston

External person

Emily M. Mace

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

External person

Eric Boerwinkle

  • George Washington University
  • University of Texas Health Science Center at Houston
  • Human Genome Sequencing Center
  • Baylor College of Medicine

External person

Jeroen Bakkers

  • Interuniversity Cardiology Institute of the Netherlands
  • Utrecht University
  • Department of Cardiac Development and Genetics
  • Department of Medical Physiology
  • Royal Netherlands Academy of Arts and Sciences

External person

Jessica X. Chong

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

External person

Kaya Bilguvar

  • Yale University
  • Department of Medical Biology
  • Marmara University
  • Department of Genetics
  • Program on Neurogenetics
  • Departments of Neurosurgery and Neurobiology
  • School of Medicine
  • Yale Neurovascular Surgery Program
  • Department of Genetics
  • Departments of Child Psychiatry and Genetics
  • Yale Center for Genomic Analysis

External person

Leander Beekman

  • University of Amsterdam

External person

Adiaha I A Franklin

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

External person

Qi Tian

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

External person

Debra L. Canter

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

External person

Eline A. Nannenberg

  • University of Amsterdam
  • Department of Clinical Genetics

External person

Maria Kanariou

  • Université Paris 5
  • Université Paris Cité

External person

Esra Battaloglu

  • Bogazici University
  • Department of Molecular Biology and Genetics

External person

Pattamawadee Yanatatsaneejit

  • Chulalongkorn University
  • Center of Excellence in Molecular Genetics of Cancer and Human Diseases

External person

Suur Biliciler

  • University of Texas Health Science Center at Houston
  • Department of Neurology

External person

Carolina Fischinger Moura de Souza

  • Universidade Federal do Rio Grande do Sul
  • Medical Genetics Service

External person

Jacek Zaremba

  • Department of Medical Genetics
  • Institute of Psychiatry and Neurology, Warszawa
  • Miroslaw Mossakowski Medical Research Center of the Polish Academy of Sciences

External person

Martin Lloyd Hibberd

  • Agency for Science, Technology and Research, Singapore

External person

Bo Yuan

  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics

External person

Lamiae Boualla

  • Mohammed V University in Rabat

External person

Marija Stosic

  • Baylor College of Medicine

External person

Arthur A M Wilde

  • University of Amsterdam
  • Academic Medical Center, University of Amsterdam
  • University of Amsterdam
  • Heart Failure Research Centre
  • Heart Failure Research Center
  • University of Amsterdam
  • European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart
  • Academic Medical Center Amsterdam

External person

D. Valle

  • Johns Hopkins University School of Medicine
  • Royal Victoria Hospital Barrie
  • Johns Hopkins University
  • Department of Pathology
  • Laboratory of Genetics
  • Division of Pediatric Cardiology
  • Center for Medical Genetics
  • Department of Pediatrics
  • Department of Pediatrics
  • McKusick-Nathans Institute of Genetic Medicine
  • Division of Medical Genetics
  • McKusick-Nathans Institute of Genetic Medicine
  • Department of Pediatrics
  • Division of Pediatric Cardiology
  • McGill University

External person

C. Zekanowski

  • Instytut Matki I Dziecka
  • Department of Medical Genetics
  • Institute of Mother and Child

External person

Gunter Scharer

  • Children's Hospital of Wisconsin Genetics Center'
  • University of Colorado Denver
  • Children's Hospital of Wisconsin Wauwatosa
  • The Children's Hospital, Aurora
  • Department of Pediatrics
  • Clinical Genetics and Metabolism
  • Department of Pediatrics, Medical College of Wisconsin
  • Division of Clinical Genetics and Metabolism
  • The Children's Hospital, Aurora
  • University of Colorado Anschutz Medical Campus
  • University of Colorado Department of Pediatrics

External person

Patricia M. Hixson

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

External person

Jianhong Hu

  • Baylor College of Medicine
  • Membership of the SPARK Consortium Members is Provided in the Acknowledgements
  • University of Florida

External person

Cameron P. Simmons

  • University of Oxford
  • Clinical Research Unit

External person

Jawid M. Fatih

  • Baylor College of Medicine

External person

Marguerite Neerman-Arbez

  • University of Geneva
  • Department of Genetic Medicine and Development

External person

Alexander N. Yatsenko

  • Baylor College of Medicine
  • Diagnostic Sequencing Laboratory
  • University of Pittsburgh

External person

Michael Shy

  • Wayne State University
  • University of Iowa
  • Department of Neurology
  • Department of Neurology

External person

Agneszka Pollak

  • International Center of Hearing and Speech
  • Medical University of Warsaw

External person

Lee Jun C Wong

  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • Department of Human and Molecular Genetics
  • Department of Molecular and Human Genetics
  • Biochemical Genetics Laboratory
  • Institute for Molecular Genetics

External person

Hanne Sorte

  • University of Oslo
  • Department of Medical Genetics
  • Institute of Clinical Medicine

External person

Jennifer Castaneda

  • Department of Medical Genetics
  • Instytut Matki I Dziecka
  • Institute of Mother and Child

External person

Zili D. Chu

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

External person

William F. Simonds

  • University of Pennsylvania
  • National Institutes of Health
  • University of California at San Francisco
  • Department of Surgery
  • National Cancer Institute
  • Memorial Sloan-Kettering Cancer Center
  • Department of Surgery
  • Department of Surgery
  • Department of Surgery
  • Gynecology Service
  • Department of Surgery

External person

Lisa G. Shaffer

  • Signature Genomic Laboratories
  • Baylor College of Medicine
  • Lab. for Genetic Services Inc.
  • Genetic Veterinary Sciences, Inc.
  • Laboratories for Genetic Services, Inc.
  • Signature Genomic Laboratories, LLC
  • Baylor DNA Diagnostic Laboratory
  • Department of Molecular and Human Genetics
  • Diagnostic Sequencing Laboratory
  • PerkinElmer, Inc.
  • Signature Genomics Laboratories
  • Signature Genomic Laboratories
  • PerkinElmer, Inc.
  • Inc.
  • Inc.

External person

Ewelina Bukowska-Olech

  • University of Medical Sciences Poznan

External person

Richard A. Lewis

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

External person

Ilham Ratbi

  • Mohammed V University in Rabat

External person

Elif Yilmaz Gulec

  • Kanuni Sultan Suleyman Training and Research Hospital
  • Istanbul Medeniyet University
  • Istanbul Goztepe Prof. Dr. Suleyman Yalcin City Hospital

External person

Matthew E. Hurles

  • Wellcome Research Laboratories, London
  • Wellcome Sanger Institute
  • Genome Mutation and Genetic Disease Group
  • Genome Dynamics and Evolution Group
  • Wellcome Trust

External person

Gao Wang

  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • The University of Chicago
  • Department of Human Genetics
  • Department of Human Genetics
  • Department of Human Genetics

External person

Walter Reith

  • University of Geneva
  • Dept. of Genetics and Microbiology
  • Dept. of Genetics and Microbiology

External person

S. J. Dunstan

  • University of Oxford
  • Clinical Research Unit
  • University of Melbourne

External person

Sharon E. Plon

  • Texas Children's Cancer Center and Hematology Service
  • Baylor College of Medicine
  • Texas Children's Cancer Center
  • Department of Molecular and Human Genetics
  • Department of Pediatrics
  • Human Genome Sequencing Center
  • USDA/ARS Children's Nutr. Res. Ctr.
  • Diagnostic Sequencing Laboratory
  • Retinoblastoma Center of Houston
  • Department of Pediatrics
  • Department of Molecular and Human Genetics
  • Department of Pediatrics
  • Texas Children's Cancer Center and Hematology Service
  • Uppsala University
  • Texas Children's Hospital Houston

External person

Teun de Boer

  • Utrecht University
  • Department of Medical Physiology

External person

Philip M. Boone

  • Baylor College of Medicine

External person

Richard J. Fish

  • University of Geneva
  • Department of Genetic Medicine and Development

External person

Ghayda M. Mirzaa

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

External person

Fan Xia

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

External person

Lisenka E. Vissers

  • Radboud University Nijmegen Medical Center
  • Radboud University Medical Center
  • Radboud University Nijmegen
  • Department of Human Genetics, Radboudumc
  • Department of Human Genetics
  • Department of Human Genetics, Radboudumc
  • Department of Human Genetics
  • Institute for Genetic and Metabolic Disease
  • Radboud Institute for Molecular Life Sciences
  • Department of Human Genetics, Radboudumc
  • Department of Human Genetics, Radboudumc
  • Department of Human Genetics, Radboudumc
  • Department of Human Genetics, Radboudumc
  • Department of Human Genetics, Radboudumc
  • Department of Human Genetics, Radboudumc
  • Radboudumc

External person

Yesim Parman

  • Istanbul University
  • Neurology Department and Neuropathology Laboratory, Istanbul University Medical School
  • Department of Neurology

External person

Adekunle M. Adesina

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

External person

Jennifer E. Below

  • University of Texas Health Science Center at Houston
  • Vanderbilt University

External person

Mehmet Seven

  • Istanbul University
  • Medical Genetics Department
  • Istanbul University - Cerrahpaşa

External person

T. M. Morgan

  • Vanderbilt University
  • Washington University School of Medicine
  • Yale University
  • Washington University St. Louis
  • Department of Pediatrics
  • Division of Medical Genetics and Genomic Medicine
  • Department of Human Genetics
  • Medical Center
  • Department of Genetics
  • Institute for Medicine and Public Health

External person

Anna Kutkowska-Kazmierczak

  • Institute of Mother and Child
  • Instytut Matki I Dziecka

External person

Sylwia Rzonca

  • Institute of Mother and Child
  • Instytut Matki I Dziecka

External person

Ryszard Slezak

  • Wrocław Medical University

External person

Wim de Graaff

  • Netherlands Institute for Neuroscience

External person

Heather P. Crawford

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

External person

Erica E. Davis

  • Baylor College of Medicine
  • Texas Children's Cancer Center
  • Duke University

External person

Barbara Mandriani

  • University of Brescia
  • IRCCS Ospedale Casa Sollievo della Sofferenza - San Giovanni Rotondo (FG)
  • Medical Genetics Unit
  • Department of Molecular and Translational Medicine

External person

Sedat Isikay

  • Gaziantep Children's Hospital
  • Department of Child Neurology

External person

Tadahiro Mitani

  • Baylor College of Medicine

External person

D. Lys Guilbride

  • Independent Researcher

External person

Dorota Gieruszczak-Bialek

  • Department of Medical Genetics
  • Children's Memorial Health Institute
  • Medical University of Warsaw
  • Department of Pediatrics

External person

Janusz Zimowski

  • Institute of Psychiatry and Neurology, Warszawa
  • Miroslaw Mossakowski Medical Research Center of the Polish Academy of Sciences
  • Department of Medical Genetics
  • Polish Academy of Sciences

External person

Jeffery Kerr

  • Dell's Children's Medical Center

External person

Daryl A. Scott

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

External person

Ada Hamosh

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

External person

Robin P. Goin-Kochel

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

External person

Apiwat Mutirangura

  • Chulalongkorn University
  • Center of Excellence in Molecular Genetics of Cancer and Human Diseases

External person

Melissa B. Ramocki

  • Baylor College of Medicine
  • Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital

External person

Nicolas Guex

  • Swiss Institute of Bioinformatics
  • University of Lausanne
  • Center for Integrative Genomics

External person

Nursel H. Elcioglu

  • Marmara University
  • Department of Pediatric Genetics

External person

Adnan Yuksel

  • Istanbul University
  • Biruni Universitesi
  • Medical Genetics Department
  • Istanbul University - Cerrahpaşa

External person

M. Selman Yildirim

  • Necmettin Erbakan University
  • Department of Genetics

External person

Renata Posmyk

  • Podlaskie Medical Center
  • Department of Clinical Genetics
  • Medical University of Białystok

External person

Thomas E. Gallagher

  • Tripler Regional Med Center

External person

Ewa Jamroz

  • School of Medicine in Katowice
  • Medical University of Silesia in Katowice

External person

Reed A. Omary

  • Northwestern University
  • Vanderbilt University
  • Pediatric Radiology and Neuroradiology
  • Department of Radiology
  • Department of Biomedical Engineering
  • Robert H. Lurie Comprehensive Cancer Center
  • Department of Radiology
  • Robert H. Lurie Comprehensive Cancer Center

External person

Lisa Omo-Griffith

  • Northeast Indiana Genetic Counseling Center

External person

Theodore G. Wensel

  • Baylor College of Medicine
  • Verna and Marrs McLean Department of Biochemistry and Molecular Biology
  • Department of Biochemistry
  • Department of Biochemistry

External person

Rui Chen

  • Baylor College of Medicine
  • BCM

External person

Xueqing Wang

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

External person

Aye Thida

  • Allcare Pediatrics

External person

Nguyen Van Vinh Chau

  • University College London
  • University of Oxford
  • University College London Hospitals NHS Foundation Trust

External person

Charlotte D. Koopman

  • Utrecht University

External person

Ivan K. Chinn

  • Baylor College of Medicine
  • Department of Pediatrics
  • Center for Human Immunobiology
  • Texas Children's Cancer Center
  • Division of Pediatric Immunology
  • Texas Children's Hospital Houston

External person

R. P. Lifton

  • Yale University
  • Howard Hughes Medical Institute
  • Rockefeller University
  • Department of Genetics
  • Laboratory of Human Genetics and Genomics
  • School of Medicine
  • Department of Genetics
  • Department of Genetics
  • Department of Genetics
  • Dept. of Medicine/Nephrology
  • Department of Genetics
  • Departments of Child Psychiatry and Genetics
  • Department of Genetics
  • Center for Human Genetics and Genomics
  • Department of Medicine
  • Yale Center for Genomic Analysis
  • External Advisory Committee

External person

Nicole Brousse

  • Université Paris 5
  • Université Paris Cité

External person

Gulam Mustafa Saifi

  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • Diagnostic Sequencing Laboratory

External person

Kati J. Buckingham

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

External person

Audrey R. Ester

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

External person

G. Jackson Snipes

  • Baylor College of Medicine
  • Department of Pathology
  • Department of Pathology

External person

Patricia P. Hernandez

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

External person

Neil A. Hanchard

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

External person

Michele K. York

  • Department of Veterans Affairs
  • Baylor College of Medicine
  • Department of Neurology

External person

Barbara Ryniewicz

  • Medical University of Warsaw
  • Miroslaw Mossakowski Medical Research Center of the Polish Academy of Sciences
  • Department of Neurology
  • Polish Academy of Sciences

External person

Penelope E. Bonnen

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

External person

Erkan Koparir

  • Istanbul University
  • Kanuni Sultan Suleyman Training and Research Hospital
  • Medical Genetics Department
  • Medical Genetics Section
  • Istanbul University - Cerrahpaşa

External person

Anthony Antonellis

  • University of Michigan, Ann Arbor
  • Cellular and Molecular Biology Program
  • Department of Human Genetics
  • Departments of Neurology

External person

Diana K. Bayer

  • University of Iowa
  • Department of Pediatrics
  • Department of Pediatrics

External person

Jeff Reid

  • Baylor College of Medicine
  • Regeneron Pharmaceuticals, Inc.
  • British Columbia Cancer Agency
  • Brigham and Women’s Hospital

External person

Monica J. Justice

  • Baylor College of Medicine
  • University of Toronto
  • Diagnostic Sequencing Laboratory
  • Department of Molecular and Human Genetics
  • Mouse Imaging Centre
  • Department of Molecular Biology
  • Department of Molecular and Human Genetics

External person

William B. Dobyns

  • The University of Chicago
  • University of Washington
  • Division of Pediatric Neurology
  • Indiana University-Purdue University Indianapolis
  • Children's Hospital and Regional Medical Center Seattle
  • Department of Neurology, University of Washington
  • Seattle Children's Research Institute
  • Department of Genetics
  • Department of Neurology
  • Department of Pediatrics
  • University of Ottawa
  • Center for Integrative Brain Research
  • Department of Neurology, University of Washington
  • Department of Neurology
  • Department of Pediatrics
  • University of Minnesota Twin Cities
  • Center for Integrative Brain Research
  • Departments of Neurology and Pediatrics
  • Developmental Disorders Group
  • Department of Neurology, University of Washington
  • Department of Neurology, University of Washington
  • Department of Human Genetics
  • Div. of Pediat. Hematology/Oncology
  • Department of Neurology
  • Department of Neurology, University of Washington
  • Centre hospitalier pour enfants de l'est de l'Ontario
  • Department of Neurology
  • Department of Human Genetics
  • Seattle Children's Research Institute
  • Department of Neurology
  • Division of Pulmonary and Sleep Medicine
  • Indiana University Bloomington
  • Fairview Health Service
  • Seattle Children's Hospital

External person

Meryem Tuba Goksungur

  • Istanbul University
  • Department of Neurology

External person

Nirupama S. Madduri

  • Vanderbilt University

External person

Federico Tessadori

  • Utrecht University

External person

Natascia Malerba

  • University of Foggia
  • IRCCS Ospedale Casa Sollievo della Sofferenza - San Giovanni Rotondo (FG)
  • Medical Genetics Unit

External person

Maarten Kamermans

  • University of Amsterdam
  • University of Amsterdam
  • Department of Neurogenetics
  • Netherlands Institute for Neuroscience
  • Research Unit Retinal Signal Processing

External person

Antoni Pyrkosz

  • Department of Medical Genetics
  • University of Rzeszów

External person

Gladys Zapata

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

External person

Charles M. Zaremba

  • Baylor College of Medicine

External person

Ankita Patel

  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • Dept of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Baylor Genetics
  • Medical Genetics Laboratories
  • Baylor Genetics, LLC

External person

Milan Jamrich

  • Baylor College of Medicine
  • Diagnostic Sequencing Laboratory

External person

Corinne Boehm

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

External person

Mirjana Maletic-Savatic

  • Baylor College of Medicine
  • Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital
  • Stony Brook University
  • Cold Spring Harbor Laboratory
  • Departments of Neurology and Electrical and Computer Engineering
  • Department of Neurology

External person

Valerio Napolioni

  • Stanford University
  • Department of Neurology and Neurological Sciences
  • University of Camerino

External person

Chiea Chuen Khor

  • Agency for Science, Technology and Research, Singapore

External person

Michael Bamshad

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

External person

Shrikant M. Mane

  • Yale University
  • Yale Center for Genome Analysis
  • Yale Center for Genomic Analysis
  • Yale Center for Genome Analysis
  • Departments of Child Psychiatry and Genetics
  • Yale Center for Genomic Analysis

External person

Iwona Kochanowska

  • Individual Medical Practice in Pediatric Neurology

External person

I. C. Hanson

  • Baylor College of Medicine
  • Department of Pediatrics
  • Center for Human Immunobiology
  • Immunology
  • Texas Children's Hospital Houston
  • Allergy and Rheumatology

External person

Nico A. Blom

  • University of Amsterdam

External person

Elisabeth M. Lodder

  • University of Amsterdam
  • University of Amsterdam
  • Academic Medical Center Amsterdam

External person

Misti D. Williams

  • Vanderbilt University
  • Division of Medical Genetics and Genomic Medicine
  • Division of Medical Genetics and Genomic Medicine

External person

Muhammad E. Haque

  • Baylor College of Medicine
  • Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital

External person

Magdalena Walkiewicz

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

External person

Elzbieta Szczepanik

  • Clinic of Neurology of Children and Adolescents
  • Instytut Matki I Dziecka
  • Institute of Mother and Child

External person

Timothy J. Vece

  • Baylor College of Medicine
  • Texas Children's Cancer Center
  • Department of Pediatrics
  • Texas Children's Hospital Houston
  • University of North Carolina at Chapel Hill

External person

Anna Illner

  • Baylor College of Medicine
  • Department of Diagnostic Imaging
  • Department of Pediatric Radiology
  • Texas Children's Hospital Houston

External person

Kimberly F. Doheny

  • Johns Hopkins School of Medicine
  • Johns Hopkins University
  • Center for Inherited Disease Research
  • Center for Inherited Disease Research (CIDR)
  • McKusick-Nathans Institute of Genetic Medicine
  • School of Medicine

External person

Haowei Du

  • Baylor College of Medicine

External person

Mustafa Ozen

  • Istanbul University
  • Biruni Universitesi
  • Medical Genetics Department
  • Istanbul University - Cerrahpaşa

External person

Sarenur Yilmaz

  • Istanbul Medeniyet University
  • Faculty of Medicine

External person

Anna Jakubiuk-Tomaszuk

  • Department of Pediatric Neurology and Rehabilitation
  • Medical University of Białystok

External person

Simeon A. Boyadjiev

  • University of California at Davis
  • Department of Pediatrics

External person

Barbara Gurda

  • Department of Developmental Neurology
  • University of Medical Sciences Poznan

External person

Victor W. Zhang

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

External person

Najim Lahrouchi

  • University of Amsterdam

External person

Joep De Ligt

  • Radboud University Nijmegen
  • Department of Human Genetics, Radboudumc
  • Department of Human Genetics, Radboudumc
  • Radboud Institute for Molecular Life Sciences
  • Institute for Genetic and Metabolic Disease
  • Department of Human Genetics
  • Department of Human Genetics, Radboudumc
  • Department of Human Genetics, Radboudumc
  • Department of Human Genetics, Radboudumc
  • Department of Human Genetics, Radboudumc
  • Department of Human Genetics, Radboudumc
  • Department of Human Genetics, Radboudumc
  • Radboudumc

External person

Giuseppe Merla

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

External person

Alexandre Reymond

  • University of Lausanne
  • Center for Integrative Genomics
  • University of Geneva

External person

Connie R. Bezzina

  • University of Amsterdam

External person

Gayle Simpson

  • Dell
  • Specially for Children

External person

Malgorzata Rydzanicz

  • Medical University of Warsaw

External person

Dario Cocciadiferro

  • University of Foggia
  • IRCCS Ospedale Casa Sollievo della Sofferenza - San Giovanni Rotondo (FG)
  • Medical Genetics Unit

External person

Nara L. Sobreira

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

External person

Anna Eifert

  • Baylor College of Medicine
  • Department of Speech and Language
  • Texas Children's Hospital Houston

External person

Christian P. Schaaf

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

External person

Michael F. Wangler

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

External person

Kay K. Win

  • Harlem Hospital Center
  • Department of Medicine
  • Harlem Hospital Center

External person

Piotr Iwanowski

  • Department of Medical Genetics
  • Children's Memorial Health Institute

External person

Beata A. Nowakowska

  • Institute of Mother and Child
  • Instytut Matki I Dziecka
  • KU Leuven
  • Baylor College of Medicine
  • Department of Medical Genetics
  • Medical Genetics Laboratories
  • Center for Human Genetics
  • Institute of Mother and Child

External person

Sumit Pruthi

  • Pediatric Radiology and Neuroradiology
  • Vanderbilt University

External person

Mariola Rudzka-Dybala

  • Clinic of Neurology of Children and Adolescents
  • Instytut Matki I Dziecka
  • Institute of Mother and Child

External person

Mahshid Azamian

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

External person

Fernando Kok

  • Movement Disorders Clinic
  • Universidade de São Paulo
  • Johns Hopkins University

External person

Pasquelena De Nittis

  • IRCCS Ospedale Casa Sollievo della Sofferenza - San Giovanni Rotondo (FG)
  • University of Lausanne
  • Medical Genetics Unit
  • Center for Integrative Genomics

External person

Dorota Antczak-Marach

  • Clinic of Neurology of Children and Adolescents
  • Instytut Matki I Dziecka
  • Institute of Mother and Child

External person

Manish Jaiswal

  • Howard Hughes Medical Institute
  • Howard Hughes Medical Institute
  • Howard Hughes Medical Institute
  • Howard Hughes Medical Institute
  • Howard Hughes Medical Institute
  • Department of Molecular and Human Genetics
  • Howard Hughes Medical Institute
  • BCM

External person

John K. Fink

  • University of Michigan, Ann Arbor
  • VA Medical Center
  • Department of Neurology
  • Geriatric Research Education and Clinical Center (GRECC)
  • Ann Arbor VA Medical Center
  • Neurology Service and Geriatric Research Education and Clinical Centers

External person

Holly K. Tabor

  • Seattle Children's Hospital
  • Children's Hospital and Regional Medical Center Seattle
  • University of Washington
  • Center for Mendelian Genomics
  • Division of Pulmonary and Sleep Medicine
  • Department of Pediatrics
  • Department of Genome Sciences
  • Treuman Katz Center for Pediatric Bioethics
  • Stanford University
  • Dept. of Genome Science/Medicine
  • University of Washington
  • Seattle Children's Hospital

External person

Guy Van Camp

  • University of Antwerp
  • Department of Medical Genetics

External person

Carl E. Allen

  • Baylor College of Medicine
  • Texas Children's Cancer Center
  • Texas Children’s Cancer Center
  • Division of Pediatric Hematology-Oncology
  • Department of Pediatrics
  • Texas Children's Hospital Houston

External person

Trine E. Prescott

  • University of Oslo
  • Department of Medical Genetics

External person

Nathalie Lambert

  • Université Paris 5
  • Université Paris Cité

External person

Hui Yu

  • Baylor Genetics, LLC

External person

Margaret Morgan

  • BC Cancer Agency
  • Baylor College of Medicine
  • Mayo Clinic Rochester, MN
  • University of British Columbia
  • Canada's Michael Smith Genome Sciences Centre
  • Texas Cancer Research Biobank (TCRB)
  • Human Genome Sequencing Center
  • Division of Experimental Pathology
  • University of Texas MD Anderson Cancer Center
  • British Columbia Cancer Agency

External person

Markus Pfister

  • University Tuebingen
  • University of Tübingen
  • Department of Otolaryngology

External person

Josef M. Penninger

  • IMBA
  • Institute of Molecular Biotechnology
  • Austrian Academy of Sciences

External person

Colleen Davis

  • University of Washington
  • University of Washington

External person

Berit Flatø

  • University of Oslo

External person

Suzanne L. Woodbury

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

External person

S. Blaser

  • University of Toronto
  • Neuroradiology and Otolaryngology

External person

Burcak Ozes

  • Bogazici University
  • Department of Molecular Biology and Genetics

External person

Teresa Santiago-Sim

  • OPKO Health, Inc.

External person

Lore Becker

  • Helmholtz Zentrum München - German Research Center for Environmental Health

External person

Sophia Y. Tsai

  • Baylor College of Medicine
  • Division of Biostatistics

External person

Chen Wang

  • The Chinese University of Hong Kong

External person

Jianlan Peng

  • Baylor College of Medicine
  • Human Genome Center

External person

Tianyu Guo

  • The Chinese University of Hong Kong

External person

Casey Conrad

  • Oregon Health and Science University

External person

Deema Aljeaid

  • King Abdulaziz University

External person

Graça Fialho

  • University of Lisbon
  • Center of Genetics and Molecular Biology
  • University of Lisbon

External person

Dimitri Avramopoulos

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

External person

Nancy J. Mendelsohn

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

External person

John D. Overton

  • Regeneron Pharmaceuticals, Inc.

External person

Harsha Vardhan Doddapaneni

  • Human Genome Sequencing Center
  • Baylor College of Medicine
  • Canada's Michael Smith Genome Sciences Centre
  • University of British Columbia
  • Membership of the SPARK Consortium Members is Provided in the Acknowledgements
  • British Columbia Cancer Agency

External person

Olaug Kristin Rødningen

  • University of Oslo
  • Department of Medical Genetics

External person

Linh D. Hoang

  • Life Technologies

External person

Julie S. Cohen

  • Kennedy Krieger Institute
  • Johns Hopkins University

External person

Miguel Brown

  • Rockefeller University
  • Laboratory of RNA Molecular Biology

External person

Sara Tufa

  • Research Department
  • Shriners Hospital for Children
  • Research Dept.
  • Shriners Hospitals for Children
  • Research Center
  • Oregon Health and Science University
  • Micro-Imaging Center
  • Shriners Hospital for Children
  • Children's Hospital

External person

Theodore Chiang

  • Baylor College of Medicine
  • Human Genome Sequencing Center

External person

Tim Clausen

  • Research Institute of Molecular Pathology (IMP)
  • Vienna Biocenter

External person

Stefan Weitzer

  • Institute of Molecular Biotechnology

External person

Isabella Herman

  • Baylor College of Medicine
  • Boys Town National Research Hospital
  • Texas Children's Hospital Houston

External person

Felipe Moreno

  • Hospital Ramon y Cajal
  • Unidad de Genética Molecular

External person

Karen Gronskov

  • Kennedy Institute - National Eye Clinic

External person

Gerald Raymond

  • University of Minnesota Twin Cities
  • Departments of Neurology

External person

Noah Zaitlen

  • University of California Office of the President
  • Department of Medicine
  • University of California at San Francisco
  • Department of Medicine

External person

Wu Lin Charng

  • Department of Molecular and Human Genetics, BCM
  • Department of Molecular and Human Genetics, BCM
  • Department of Molecular and Human Genetics, BCM
  • Department of Molecular and Human Genetics, BCM
  • Department of Molecular and Human Genetics, BCM
  • Washington University St. Louis
  • Department of Molecular and Human Genetics
  • Baylor College of Medicine
  • BCM

External person

Monika Gos

  • Institute of Mother and Child
  • Instytut Matki I Dziecka

External person

Salih Cicek

  • Konya Numune Training and Research Hospital
  • Medical Genetics Section

External person

E. Yang

  • Harvard University
  • The University of Chicago
  • Boston Children's Hospital

External person

Bernard Mach

  • University of Geneva
  • Dept. of Genetics and Microbiology

External person

Istvan Sziklai

  • University of Debrecen
  • Department of Otolaryngology

External person

Asia D. Mitchell

  • Oregon Health and Science University
  • Department of Molecular and Medical Genetics
  • Primate Genetics Section/Division of Neuroscience

External person

Alison A. Bertuch

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

External person

Olga Bendova

  • Motol University Hospital
  • Charles University
  • Department of Otorhinolaryngology

External person

Elizabeth Blue

  • University of Washington
  • Department of Medicine
  • Department of Medicine

External person

Tamara J. Bacus

  • Department of Medicine (Division of Medical Genetics)

External person

Raif S. Geha

  • Harvard University
  • Division of Immunology
  • Division of Immunology
  • Department of Pediatrics
  • Department of Immunology
  • Boston Children's Hospital

External person

Céu Correia

  • Center of Genetics and Molecular Biology
  • University of Lisbon
  • University of Lisbon

External person

Hiroshi Shiraishi

  • Institute of Molecular Biotechnology

External person

Michał Milewski

  • Institute of Mother and Child
  • Instytut Matki I Dziecka

External person

Sara Evans-Dutson

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

External person

Andrew J. Cant

  • Instytut Matki I Dziecka
  • Max Planck Institute of Immunobiology and Epigenetics
  • Newcastle General Hospital
  • Centre de recherche des Cordeliers
  • Université Paris 5
  • Nencki Institute of Experimental Biology of the Polish Academy of Sciences
  • Newcastle upon Tyne Hospitals NHS Foundation Trust
  • Polish Academy of Sciences
  • Hans-Spemann Laboratory
  • Institute of Mother and Child
  • Institut national de la santé et de la recherche médicale
  • Université Paris Cité

External person

Kadri Karaer

  • Intergen Genetic Center

External person

Nathalie Boddaert

  • Université Paris 5
  • Department of Paediatric Radiology
  • Département de Radiologie Pédiatrique
  • INSERM U781
  • Université Paris Cité

External person

Max Jan

  • University of California Office of the President
  • Department of Medicine
  • University of California at San Francisco
  • Department of Medicine

External person

Asuman Koparir

  • Istanbul University
  • Medical Genetics Department
  • Istanbul University - Cerrahpaşa

External person

Stephen H. Tsang

  • Department of Pathology and Cell Biology and Center for Human Genetics
  • Department of Ophthalmology
  • Columbia University
  • Department of Ophthalmology
  • Jonas Children's Vision Care
  • Bernard and Shirlee Brown Glaucoma Laboratory
  • Columbia Stem Cell Initiative

External person

Lily Bazak

  • Rabin Medical Center Israel

External person

Anna C. Jansen

  • Vrije Universiteit Brussel
  • Neurogenetics Research Group
  • Pediatric Neurology Unit
  • UZ Univeristy of Brussel

External person

Sukru Candan

  • Balikesir Ataturk Public Hospital

External person

David Chitayat

  • University of Toronto
  • Department of Medical Genetics
  • Mount Sinai Hospital of University of Toronto

External person

Knut Erik Berge

  • University of Oslo
  • Department of Medical Genetics

External person

Pål Aukrust

  • University of Oslo
  • Rikshospitalet-Radiumhospitalet HF
  • Institute of Clinical Medicine

External person

Sharon D. Dell

  • Division of Respiratory Medicine
  • University of Toronto

External person

Alicia B. Byrne

  • Center for Mendelian Genomics
  • Department of Genetics and Molecular Pathology
  • Centre for Cancer Biology
  • School of Pharmacy and Medical Sciences
  • Broad Institute
  • University of South Australia
  • Centre for Cancer Biology

External person

Sevcan Tug Bozdogan

  • Mersin University
  • Department of Medical Genetics

External person

Claudia Seisenberger

  • Helmholtz Zentrum München - German Research Center for Environmental Health

External person

Thomas Ragole

  • Oregon Health and Science University

External person

S. Ali Fatemi

  • Kennedy Krieger Institute
  • Johns Hopkins University

External person

Gregory Goh

  • Oregon Health and Science University

External person

Chun An Chen

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

External person

C. Bastard

  • Centre Georges-François Leclerc
  • Laboratoire de Genetique Oncologique

External person

P. Dane Witmer

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

External person

Danuta Sielska

  • Miroslaw Mossakowski Medical Research Center of the Polish Academy of Sciences
  • Polish Academy of Sciences

External person

Valentina Stanley

  • University of California at San Diego
  • Howard Hughes Medical Institute

External person

Jürgen Brinckmann

  • Department of Dermatology
  • University of Lübeck

External person

Agata Lipiec

  • Institute of Mother and Child
  • Instytut Matki I Dziecka

External person

Tuija Löppönen

  • University of Oulu
  • Department of Clinical Genetics
  • Department of Clinical Genetics

External person

Timothy Lotze

  • Baylor College of Medicine
  • Texas Children's Cancer Center
  • Department of Neurology
  • Texas Children's Hospital Houston

External person

T. O. Crawford

  • Johns Hopkins University
  • Departments of Neurology and Pediatrics
  • Department of Neurology

External person

Pui Yan Kwok

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

External person

Amal Alhashem

  • Qassim University

External person

G. Jackson Snipes

  • Baylor College of Medicine
  • Department of Pathology

External person

Tulay Guran

  • Marmara University
  • Department of Pediatric Endocrinology and Diabetes

External person

Kensuke Shiga

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

External person

Nicolas J. Abreu

  • New York University
  • Nationwide Children’s Hospital
  • Ohio State University

External person

Andrew Kodani

  • Harvard University
  • Boston Children's Hospital

External person

Raimund Wagener

  • University of Cologne
  • Institute of Biochemistry I

External person

Elizabeth Gorman

  • Baylor Genetics
  • Baylor Genetics, LLC

External person

Bella Davidov

  • Rabin Medical Center Israel

External person

T. Prod'homme

  • Institut national de la santé et de la recherche médicale
  • INSERM U396

External person

Françoise Denoyelle

  • Hôpital Armand Trousseau
  • D'Oto-Rhino-Laryngologie et de Chirurgie Cervico-Faciale
  • Sorbonne Université

External person

Ying Wooi Wan

  • Jan and Dan Duncan Neurological Research Institute
  • Department of Obstetrics and Gynecology
  • BCM
  • Jan and Duncan Neurological Research Institute
  • Baylor College of Medicine
  • Department of Pediatrics
  • Texas Children's Hospital Houston

External person

Steven Buyske

  • Rutgers - The State University of New Jersey, New Brunswick

External person

Piotr Stawiński

  • Medical University of Warsaw

External person

Michael R. Waterfield

  • University of California Office of the President
  • Department of Pediatrics
  • University of California at San Francisco
  • Department of Pediatrics

External person

Irene Newsham

  • Baylor College of Medicine
  • Henry Ford Health System
  • Memorial-Sloan Kettering Cancer Center
  • Memorial Sloan-Kettering Cancer Center
  • Human Genome Sequencing Center
  • Department of Neurosurgery
  • Computational Biology Center

External person

Hans Christian Erichsen

  • University of Oslo

External person

Toshikatsu Hanada

  • Institute of Molecular Biotechnology
  • Kyoto University
  • Medical Innovation Center

External person

Ewelina Glodek-Brzozowska

  • Clinical Central Hospital No. 2 in Rzeszow

External person

Zhiyv Niu

  • Baylor College of Medicine
  • Baylor Miraca Genetics Laboratories
  • Department of Molecular and Human Genetics
  • Whole Genome Laboratory
  • University of Pennsylvania
  • Mayo Clinic Rochester, MN

External person

Alayne P. Meyer

  • Nationwide Children’s Hospital
  • Ohio State University

External person

Emre Kirat

  • Istanbul University
  • Medical Genetics Department
  • Istanbul University - Cerrahpaşa

External person

Femke Baeke

  • Flanders Institute for Biotechnology
  • Ghent University

External person

Alexander T. Lin-Moore

  • Jan and Dan Duncan Neurological Research Institute
  • Jan and Dan Duncan Neurological Research Institute
  • Jan and Dan Duncan Neurological Research Institute
  • Jan and Dan Duncan Neurological Research Institute
  • Jan and Dan Duncan Neurological Research Institute
  • Jan and Dan Duncan Neurological Research Institute

External person

Samantha Baxter

  • Broad Institute

External person

Pascale Louise-Plence

  • Institut national de la santé et de la recherche médicale

External person

Magdalena Badura-Stronka

  • University of Medical Sciences Poznan

External person

Ezgi Aslan

  • Istanbul Medeniyet University

External person

Henrik Hjorth-Hansen

  • Norwegian University of Science and Technology
  • Department of Hematology
  • Faculty of Medicine

External person

Peter Anderson

  • University of Washington
  • University of Washington

External person

Christian Bernreuther

  • University Medical Center Hamburg-Eppendorf
  • Institute of Neuropathology
  • University of Hamburg

External person

Alanna C. Morrison

  • University of Texas Health Science Center at Houston
  • Human Genetics Center

External person

Kimia Kahrizi

  • University of Social Welfare and Rehabilitation Sciences
  • Genetics Research Center

External person

R. Smith

  • A.I. Dupont Children's Hospital
  • Baylor College of Medicine
  • University of Iowa Hospitals/Clinics
  • University of Iowa Carver College of Medicine
  • University of Iowa
  • Alfred I. duPont Hospital for Children
  • Department of Pediatric Otolaryngology
  • Dept of Otolaryngology
  • Department of Otolaryngology
  • Department of Otolaryngology-Head and Neck Surgery
  • Department of Otolaryngology-Head and Neck Surgery
  • The Bobby R. Alford Department of Otorhinolaryngology and Communicative Sciences
  • Department of Otolaryngology-Head and Neck Surgery

External person

Ferda Ozkinay

  • Ege University
  • Department of Medical Genetics

External person

Tomoko Ohyama

  • Baylor College of Medicine
  • Diagnostic Sequencing Laboratory
  • Department of Molecular and Human Genetics

External person

Nathalie Pallares-Ruiz

  • CHU Montpellier
  • Laboratoire de Génétique Moléculaire

External person

Brittany N. Flores

  • University of Michigan, Ann Arbor

External person

Alejandro Iglesias

  • Columbia University

External person

Ladonna Immken

  • Specially for Children

External person

Karen L. Schulze

  • Howard Hughes Medical Institute
  • Howard Hughes Medical Institute
  • Howard Hughes Medical Institute
  • Howard Hughes Medical Institute
  • Howard Hughes Medical Institute
  • Department of Molecular and Human Genetics
  • Howard Hughes Medical Institute
  • BCM

External person

Rolf W. Stottmann

  • Cincinnati Children's Hospital Medical Center

External person

Julie Hoover-Fong

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

External person

Katie Johnson Camacho

  • Oregon Health and Science University

External person

Vegard Skogen

  • University Hospital of Northern Norway
  • University Hospital of North Norway
  • University of Oxford

External person

Lusine Nazaryan-Petersen

  • University of Copenhagen

External person

Malgorzata Mueller-Malesinska

  • Medical University of Warsaw

External person

Tongchao Li

  • Program in Developmental Biology, Baylor College of Medicine (BCM)
  • Program in Developmental Biology, Baylor College of Medicine (BCM)
  • Program in Developmental Biology, Baylor College of Medicine (BCM)
  • Program in Developmental Biology, Baylor College of Medicine (BCM)
  • Program in Developmental Biology, Baylor College of Medicine (BCM)
  • Baylor College of Medicine
  • Stanford University

External person

Sanaz Arzhangi

  • University of Social Welfare and Rehabilitation Sciences

External person

Bert Callewaert

  • Ghent University

External person

Saul Oswaldo Lugo Reyes

  • Instituto Nacional de Pediatria

External person

G. Miller

  • Baylor College of Medicine
  • Department of Neurology
  • Parkinson's Disease Center
  • Pediatrics and Neurology
  • Department of Neurology
  • Departments of Neurology and Pediatrics

External person

Emmanuelle Jouanguy

  • Université Paris 5
  • Université Paris Cité

External person

Levi B. Watkin

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

External person

John Letaw

  • Oregon Health and Science University
  • Primate Genetics Section/Division of Neuroscience
  • Division of Neuroscience

External person

Alessandro Martini

  • University of Ferrara
  • Cattedra di Audiologia

External person

Mark S. Anderson

  • University of California Office of the President
  • Department of Medicine
  • University of California at San Francisco
  • Department of Medicine

External person

Krzysztof Szczałuba

  • Medical University of Warsaw

External person

Harshal A. Abhyankar

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

External person

F. Nienke Boonstra

  • Radboud University Nijmegen
  • Institute for the Visually Impaired
  • Donders Institute for Brain

External person

Alexis Heidlebaugh

  • Autism and Developmental Medicine Institute

External person

Anna Obuchowicz

  • Medical University of Silesia in Katowice
  • Department of Pediatrics

External person

Delphine Feldmann

  • Hôpital Armand Trousseau
  • Services de Biochimie et de Biologie Moléculaire
  • Sorbonne Université

External person

Krzysztof Masternak

  • University of Geneva
  • Dept. of Genetics and Microbiology

External person

Harrison Brand

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

External person

Mohammad S. Ehlayel

  • Hamad Medical Corporation
  • Department of Pediatrics

External person

Marjolein Dremmen

  • Erasmus University Rotterdam

External person

LaDonna L. Immken

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

External person

Alexander H. Li

  • University of Texas Health Science Center at Houston
  • Human Genetics Center

External person

Jeffrey C. Staples

  • University of Washington
  • University of Texas Health Science Center at Houston
  • Center for Mendelian Genomics
  • Human Genetics Center
  • University of Washington
  • Regeneron Pharmaceuticals, Inc.

External person

Jeroen Demmers

  • Erasmus University Rotterdam

External person

Joanna Oswiecimska

  • Medical University of Silesia in Katowice
  • Department of Pediatrics

External person

Luigi Notarangelo

  • Laboratory of Host Defense
  • Division of Intramural Research
  • Laboratory of Clinical Immunology and Microbiology
  • National Institutes of Health

External person

Kurt N. Hetrick

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

External person

Marie Claire Y. de Wit

  • Erasmus University Rotterdam

External person

Alessandro Aiuti

  • Vita-Salute San Raffaele University

External person

Dorota Maksym-Gasiorek

  • Children's Memorial Health Institute

External person

Malgorzata Piotrowicz

  • Department of Genetics
  • Institute of Polish Mother's Health Center

External person

Chester W. Brown

  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • Department of Pediatrics
  • Department of Molecular and Human Genetics
  • USDA/ARS Children's Nutr. Res. Ctr.
  • Department of Molecular and Human Genetics
  • Department of Pediatrics
  • University of Tennessee Health Science Center
  • Texas Children's Cancer Center
  • Department of Molecular and Human Genetics

External person

Monika Chorazy

  • Medical University of Białystok
  • Department of Neurology

External person

Caterina Cancrini

  • University of Rome Tor Vergata
  • University of Rome La Sapienza

External person

Jiong Yan

  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Cornell University
  • Department of Pathology

External person

Hanah Akleh

  • King Faisal Specialist Hospital and Research Centre

External person

Robin D. Clark

  • Department of Pediatrics
  • Loma Linda University Health

External person

Pubudu Samarakoon

  • University of Oslo
  • Department of Medical Genetics
  • Institute of Clinical Medicine

External person

Ahmed Al Fares

  • Qassim University

External person

Claudia M B Carvalho

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

External person

Lenora M. Noroski

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

External person

Sian Ellard

  • Royal Devon & Exeter NHS Foundation Trust

External person

Federico Melani

  • Meyer Children's Hospital IRCCS

External person

Piotr Buda

  • Children's Memorial Health Institute

External person

Chris A. Walsh

  • Department of Neurology
  • Program in Genomics
  • Harvard University
  • Department of Pediatrics
  • Howard Hughes Medical Institute and Division of Genetics
  • Stockholm County Council
  • Program in Genetics and Genomics
  • Howard Hughes Medical Institute
  • Department of Neurology
  • Child and Adolescent Psychiatry
  • Department of Neurology
  • Broad Institute
  • National Institutes of Health
  • UDN Coordinating Center
  • Department of Neurology
  • Program in Genetics and Genomics
  • Department of Neurology and Pediatrics
  • Harvard
  • Boston Children's Hospital

External person

Gerhard Sengle

  • University of Cologne
  • University of Cologne
  • Oregon Health and Science University
  • Department of Biochemistry and Molecular Biology
  • Shriners Hospitals for Children
  • Institute of Biochemistry I
  • Department of Biochemistry and Molecular Biology
  • Medical Faculty
  • Center for Molecular Medicine Cologne (CMMC)
  • Department of Biochemistry and Molecular Biology

External person

Geir E. Tjønnfjord

  • University of Oslo
  • Institute of Clinical Medicine

External person

Jean François Eliaou

  • Institut national de la santé et de la recherche médicale

External person

Nicola Brunetti-Pierri

  • Telethon Institute of Genetics and Medicine (TIGEM)
  • Fondazione Telethon
  • Department of Translational Medicine
  • University of Naples Federico II
  • University of Michigan, Ann Arbor

External person

Burak Durmaz

  • Ege University
  • Department of Medical Genetics

External person

Wojciech Dmowski

  • Institute of Organic Chemistry of the Polish Academy of Sciences
  • Polish Academy of Sciences

External person

Anna Eckersdorf-Mastalerz

  • Medical University of Łódź
  • Medical University of Lodz

External person

Paolo Bonaldo

  • University of Padova
  • University of Padua
  • Department of Molecular Medicine
  • Department of Histology, Microbiology and Medical Biotechnology
  • Consiglio Nazionale delle Ricerche Neuroscience Institute
  • University of Michigan, Ann Arbor

External person

Cor W R J Cremers

  • Radboud University Nijmegen
  • Department of Otorhinolaryngology

External person

Laura Vandervore

  • Vrije Universiteit Brussel
  • Erasmus University Rotterdam

External person

Hilde Van Esch

  • University Hospitals Leuven
  • KU Leuven
  • Center for Human Genetics
  • Center for Human Genetics

External person

Carla J. Nishimura

  • University of Iowa
  • Department of Otolaryngology

External person

M. Teresa de la Morena

  • University of Texas Southwestern Medical Center
  • Division of Allergy and Immunology

External person

Maria Kousi

  • Duke University
  • Center for Human Disease Modeling

External person

Milena Laure-Kamionowska

  • Miroslaw Mossakowski Medical Research Center of the Polish Academy of Sciences

External person

Malgorzata Krajewska-Walasek

  • National Institute of Tuberculosis and Lung Diseases
  • Children's Memorial Health Institute

External person

Marcia Adams

  • Johns Hopkins University
  • Center for Inherited Disease Research

External person

Ulrike Schwarze

  • University of Washington
  • Department of Pathology

External person

Rando Allikmets

  • Natl. Cancer Inst.-Frederick C.
  • Columbia University
  • SAIC
  • Department of Pathology and Cell Biology, Columbia University College of Physicians and Surgeons
  • Department of Pathology and Cell Biology, Columbia University College of Physicians and Surgeons
  • Department of Pathology and Cell Biology and Center for Human Genetics
  • Department of Ophthalmology
  • Depts. of Ophthalmol. and Pathology
  • Laboratory of Genomic Diversity
  • National Institutes of Health
  • Intramural Research Support Program
  • Department of Pathology and Cell Biology, Columbia University College of Physicians and Surgeons
  • Department of Pathology and Cell Biology, Columbia University College of Physicians and Surgeons
  • Department of Pathology and Cell Biology, Columbia University College of Physicians and Surgeons

External person

Pavana Anur

  • Oregon Health and Science University
  • Department of Molecular and Medical Genetics
  • Department of Molecular and Medical Genetics and the Knight Cancer Institute
  • Department of Biomedical Engineering
  • The Oregon Clinic
  • Cancer Genome Atlas Program Office
  • National Institutes of Health
  • Oregon Health and Science University

External person

William T. Shearer

  • Immunology
  • Baylor College of Medicine
  • Texas Children’s Hospital
  • Texas Children's Hospital Houston
  • Allergy and Rheumatology

External person

Tahsin Yakut

  • Uludag University
  • Department of Medical Genetics
  • Department of Medical Genetics

External person

Martina Wilke

  • Erasmus University Rotterdam

External person

Christopher J. Yuskaitis

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

External person

Deborah A. Nickerson

  • University of Washington
  • Department of Genome Sciences
  • Dept. of Genome Science/Medicine
  • Department of Genome Sciences
  • Clinical Sequencing Exploratory Research Coordinating Center
  • Division of Medical Genetics
  • Departments of Genome Sciences
  • Clinical Sequencing Exploratory Research Coordinating Center

External person

Damir Musaev

  • University of California at San Diego
  • Howard Hughes Medical Institute

External person

Huda Y. Zoghbi

  • Baylor College of Medicine
  • Howard Hughes Medical Institute
  • USDA/ARS Children's Nutr. Res. Ctr.
  • Division of Neuroscience
  • Diagnostic Sequencing Laboratory
  • Institute for Molecular Genetics
  • Department of Neuroscience
  • Dept of Molecular and Human Genetics
  • Department of Neurology
  • Department of Neuroscience
  • Texas Children's Cancer Center
  • Department of Molecular and Human Genetics
  • Jan and Duncan Neurological Research Institute
  • Division of Neuroscience
  • Texas Children's Hospital Houston

External person

Maria Sasiadek

  • Department of Genetics
  • Wrocław Medical University

External person

Ronni Teitelbaum

  • University of Toronto
  • Mount Sinai Hospital of University of Toronto

External person

Huseyin Aslan

  • Osmangazi University
  • Department of Medical Genetics

External person

Christopher S. Law

  • University of California Office of the President
  • Department of Medicine
  • University of California at San Francisco
  • Department of Medicine

External person

H. H. Ropers

  • Institut für Humangenetik und Anthropologie der Universität
  • University of Freiburg
  • University of Freiburg
  • Institute of Human Genetics
  • Johannes Gutenberg University Mainz

External person

Allison Tam

  • University of California at San Francisco

External person

Fatma Ekici

  • Kanuni Sultan Suleyman Training and Research Hospital
  • Medical Genetics Section

External person

Magdalena Janeczko

  • Jagiellonian University in Kraków

External person

Lina Basel-Salmon

  • Tel Aviv University
  • Rabin Medical Center Israel

External person

Guoli Wang

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

External person

Maarten Fornerod

  • Erasmus University Rotterdam
  • Department of Pediatric Oncology and Biochemistry

External person

E. Matejuk-Studzinska

  • Instytut Matki I Dziecka
  • Institute of Mother and Child

External person

Marjon van Slegtenhorst

  • Erasmus University Rotterdam
  • Department of Clinical Genetics

External person

Martin Kircher

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

External person

Hua Ling

  • Johns Hopkins University
  • Center for Inherited Disease Research
  • School of Medicine

External person

Zhandong Liu

  • Jan and Dan Duncan Neurological Research Institute
  • BCM
  • Department of Pediatrics

External person

Shweta U. Dhar

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

External person

George Makedonas

  • Baylor College of Medicine
  • University of Pennsylvania
  • Department of Microbiology
  • Texas Children's Cancer Center
  • Department of Microbiology
  • Texas Children's Hospital Houston

External person

Pierangela Castorina

  • Medical Genetics Unit
  • Department of Medicine
  • Istituti Clinici di Perfezionamento

External person

Ludmila Francescatto

  • Duke University Medical Center
  • Duke University
  • Center for Human Disease Modeling
  • Center for Human Disease Modeling

External person

Amanda Gerard

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

External person

Mats Paulsson

  • University of Cologne
  • University of Cologne
  • Institute of Biochemistry I

External person

Brendan Lee

  • Howard Hughes Medical Institute
  • Baylor College of Medicine
  • George Washington University
  • National Institutes of Health, Bethesda
  • Howard Hughes Medical Institutes
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Dept of Molecular and Human Genetics
  • Department of Pediatrics
  • Department of Pediatrics
  • National Institutes of Health
  • Texas Children's Hospital Houston
  • BCM

External person

M. Bartnik

  • Baylor College of Medicine
  • Institute of Mother and Child
  • Instytut Matki I Dziecka
  • Department of Molecular and Human Genetics
  • Department of Medical Genetics
  • Department of Molecular and Human Genetics
  • Institute of Mother and Child

External person

Tatsiana Pavina-Guglas

  • Children's Memorial Health Institute

External person

Joshua D. Smith

  • University of Washington
  • Dept. of Genome Science/Medicine
  • Department of Genome Sciences
  • Department of Genome Sciences

External person

Sandra Mercier

  • Nantes Université
  • CHU Nantes
  • UMR1089
  • CHU de Nantes
  • L'institut du Thorax
  • Nantes University Hospital (CHU de Nantes)
  • Institut national de la santé et de la recherche médicale

External person

Francesc López-Giráldez

  • Yale University
  • Department of Genetics
  • Yale Center for Genomic Analysis

External person

Mees van der Ent

  • Erasmus University Rotterdam

External person

Elif Fenercioglu

  • Istanbul University
  • Medical Genetics Department
  • Istanbul University - Cerrahpaşa

External person

Thomas D. Challman

  • Partnership for Policy Implementation
  • Autism and Developmental Medicine Institute

External person

Maike Thamsen

  • University of California Office of the President
  • Department of Medicine
  • University of California at San Francisco
  • Department of Medicine

External person

Ketil R. Heimdal

  • University of Oslo
  • Department of Medical Genetics
  • Rikshospitalet-Radiumhospitalet HF

External person

Maren Dreiner

  • German Sport University Cologne

External person

Malgorzata Grzeszykowska-Podymniak

  • Children's Memorial Health Institute

External person

Noa Ruhrman Shahar

  • Rabin Medical Center Israel

External person

Ying Sheng

  • University of Oslo
  • Department of Medical Genetics

External person

Shinya Yamamoto

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

External person

Weimin Bi

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

External person

Alicja Sikora

  • Department of Pediatrics
  • Medical University of Silesia in Katowice

External person

Eric A. Smith

  • Baylor College of Medicine
  • Division of Biostatistics

External person

Sébastien Küry

  • CHU de Nantes
  • Nantes Université
  • L'institut du Thorax
  • Nantes University Hospital (CHU de Nantes)
  • Institut national de la santé et de la recherche médicale
  • Kyushu University

External person

Pavel Seeman

  • Charles University
  • Department of Child Neurology

External person

Ryan Lutz

  • Oregon Health and Science University

External person

Anne M. Slavotinek

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

External person

Alessandra Murgia

  • University of Padua
  • Department of Pediatrics

External person

Wendy K. Chung

  • Columbia University
  • Department of Pediatrics and Medicine
  • Dept. of Medicine
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Pediatrics Medical Center
  • The Herbert Irving Comprehensive Cancer Center
  • Department of Pediatrics
  • Department of Pediatrics and Medicine
  • Department of Medicine
  • Simons Foundation
  • Simons Foundation

External person

David R. Adams

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

External person

Mevlit Ikbal

  • Karadeniz Technical University
  • Department of Medical Genetics

External person

Edwin Guzman

  • Columbia University

External person

Tyler F. Beck

  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • American Society for Radiation Oncology

External person