Network
Joshua Shimony
- Section of Neuroradiology
- Roy and Diana Vagelos Division of Biology & Biomedical Sciences (DBBS)
- DBBS - Neurosciences
- Institute of Clinical and Translational Sciences (ICTS)
- Brain Tumor Center
- Bursky Center for Human Immunology & Immunotherapy Programs (CHiiPs)
- Intellectual and Developmental Disabilities Research Center (IDDRC)
- Neuroimaging Labs Research Center
- Siteman Cancer Center
Person
Dustin Baldridge
- Division of Genetics and Genomic Medicine
- Roy and Diana Vagelos Division of Biology & Biomedical Sciences (DBBS)
- DBBS - Biomedical Informatics and Data Science
- DBBS - Molecular Genetics and Genomics
- Institute of Clinical and Translational Sciences (ICTS)
- Edison Family Center for Genome Sciences & Systems Biology
- Intellectual and Developmental Disabilities Research Center (IDDRC)
Person
Christopher Smyser
- Division of Pediatric and Developmental Neurology
- Roy and Diana Vagelos Division of Biology & Biomedical Sciences (DBBS)
- DBBS - Neurosciences
- Section of Neonatal Neurology
- Institute of Clinical and Translational Sciences (ICTS)
- Intellectual and Developmental Disabilities Research Center (IDDRC)
Person
David Spencer
- Section of Stem Cell Biology
- Roy and Diana Vagelos Division of Biology & Biomedical Sciences (DBBS)
- DBBS - Cancer Biology
- DBBS - Computational and Systems Biology
- DBBS - Developmental, Regenerative and Stem Cell Biology
- DBBS - Molecular Genetics and Genomics
- Institute of Clinical and Translational Sciences (ICTS)
- McDonnell Genome Institute (MGI)
- Siteman Cancer Center
Person
Patricia Dickson
- Department of Pediatrics
- Roy and Diana Vagelos Division of Biology & Biomedical Sciences (DBBS)
- DBBS - Molecular Genetics and Genomics
- DBBS - Neurosciences
- Division of Genetics and Genomic Medicine
- Institute of Clinical and Translational Sciences (ICTS)
- Bursky Center for Human Immunology & Immunotherapy Programs (CHiiPs)
- Hope Center for Neurological Disorders
- Intellectual and Developmental Disabilities Research Center (IDDRC)
- Siteman Cancer Center
Person
Timothy Ley
- Section of Stem Cell Biology
- Roy and Diana Vagelos Division of Biology & Biomedical Sciences (DBBS)
- DBBS - Cancer Biology
- DBBS - Immunology
- DBBS - Molecular Genetics and Genomics
- Institute of Clinical and Translational Sciences (ICTS)
- Bursky Center for Human Immunology & Immunotherapy Programs (CHiiPs)
- Siteman Cancer Center
Person
Megan Cooper
- Department of Pediatrics
- Roy and Diana Vagelos Division of Biology & Biomedical Sciences (DBBS)
- DBBS - Human and Statistical Genetics
- DBBS - Immunology
- Division of Rheumatology
- Institute of Clinical and Translational Sciences (ICTS)
- Bursky Center for Human Immunology & Immunotherapy Programs (CHiiPs)
- Rheumatic Diseases Research Resource-Based Center
- Siteman Cancer Center
- COVID-19 Researchers
Person
Christina Gurnett
- Department of Neurology
- Roy and Diana Vagelos Division of Biology & Biomedical Sciences (DBBS)
- DBBS - Molecular Genetics and Genomics
- Division of Pediatric and Developmental Neurology
- Institute of Clinical and Translational Sciences (ICTS)
- Hope Center for Neurological Disorders
- Intellectual and Developmental Disabilities Research Center (IDDRC)
- COVID-19 Researchers
Person
Jeffrey Bednarski
- Division of Hematology & Oncology
- Roy and Diana Vagelos Division of Biology & Biomedical Sciences (DBBS)
- DBBS - Immunology
- DBBS - Molecular Cell Biology
- DBBS - Molecular Genetics and Genomics
- Institute of Clinical and Translational Sciences (ICTS)
- Bursky Center for Human Immunology & Immunotherapy Programs (CHiiPs)
- Siteman Cancer Center
Person
Jacqueline Payton
- Division of Laboratory and Genomic Medicine
- Roy and Diana Vagelos Division of Biology & Biomedical Sciences (DBBS)
- DBBS - Biomedical Informatics and Data Science
- DBBS - Cancer Biology
- DBBS - Molecular Genetics and Genomics
- DBBS - Molecular Microbiology and Microbial Pathogenesis
- Institute of Clinical and Translational Sciences (ICTS)
- Bursky Center for Human Immunology & Immunotherapy Programs (CHiiPs)
- Center for the Investigation of Membrane Excitability Diseases
- Siteman Cancer Center
Person
Conrad Weihl
- Department of Neurology
- Roy and Diana Vagelos Division of Biology & Biomedical Sciences (DBBS)
- DBBS - Molecular Cell Biology
- DBBS - Neurosciences
- Section of Neuromuscular Medicine
- Institute of Clinical and Translational Sciences (ICTS)
- Center of Regenerative Medicine
- Hope Center for Neurological Disorders
Person
Clay Semenkovich
- Department of Medicine
- Roy and Diana Vagelos Division of Biology & Biomedical Sciences (DBBS)
- DBBS - Biochemistry, Biophysics, and Structural Biology
- DBBS - Molecular Genetics and Genomics
- Division of Endocrinology, Metabolism & Lipid Research
- Institute of Clinical and Translational Sciences (ICTS)
- Bursky Center for Human Immunology & Immunotherapy Programs (CHiiPs)
- Siteman Cancer Center
Person
David Chen
- Division of Dermatology
- Roy and Diana Vagelos Division of Biology & Biomedical Sciences (DBBS)
- DBBS - Cancer Biology
- DBBS - Developmental, Regenerative and Stem Cell Biology
- DBBS - Molecular Genetics and Genomics
- Institute of Clinical and Translational Sciences (ICTS)
- Center of Regenerative Medicine
- Mentorship to Enhance Diversity in Academia (MEDA)
- Siteman Cancer Center
Person
Deborah Veis
- Division of Bone & Mineral Diseases
- Roy and Diana Vagelos Division of Biology & Biomedical Sciences (DBBS)
- DBBS - Cancer Biology
- DBBS - Immunology
- DBBS - Molecular Cell Biology
- DBBS - Molecular Microbiology and Microbial Pathogenesis
- Institute of Clinical and Translational Sciences (ICTS)
- Bursky Center for Human Immunology & Immunotherapy Programs (CHiiPs)
- Center of Regenerative Medicine
- Rheumatic Diseases Research Resource-Based Center
- Siteman Cancer Center
Person
Harrison Gabel
- Department of Neuroscience
- Roy and Diana Vagelos Division of Biology & Biomedical Sciences (DBBS)
- DBBS - Molecular Cell Biology
- DBBS - Molecular Genetics and Genomics
- DBBS - Neurosciences
- Institute of Clinical and Translational Sciences (ICTS)
- Hope Center for Neurological Disorders
- Intellectual and Developmental Disabilities Research Center (IDDRC)
Person
Peggy Kendall
- Department of Medicine
- Roy and Diana Vagelos Division of Biology & Biomedical Sciences (DBBS)
- DBBS - Immunology
- Division of Allergy & Immunology
- Division of Veterans Affairs
- Institute of Clinical and Translational Sciences (ICTS)
- Bursky Center for Human Immunology & Immunotherapy Programs (CHiiPs)
- Center of Regenerative Medicine
- Mentorship to Enhance Diversity in Academia (MEDA)
- Rheumatic Diseases Research Resource-Based Center
- COVID-19 Researchers
Person
Daniel Link
- Department of Medicine
- Roy and Diana Vagelos Division of Biology & Biomedical Sciences (DBBS)
- DBBS - Cancer Biology
- DBBS - Immunology
- DBBS - Molecular Cell Biology
- DBBS - Molecular Genetics and Genomics
- Division of Oncology
- Institute of Clinical and Translational Sciences (ICTS)
- Bursky Center for Human Immunology & Immunotherapy Programs (CHiiPs)
- Siteman Cancer Center
Person
Matthew Walter
- Division of Oncology
- Roy and Diana Vagelos Division of Biology & Biomedical Sciences (DBBS)
- DBBS - Cancer Biology
- DBBS - Molecular Genetics and Genomics
- Section of Stem Cell Biology
- Institute of Clinical and Translational Sciences (ICTS)
- Bursky Center for Human Immunology & Immunotherapy Programs (CHiiPs)
- Siteman Cancer Center
Person
David Rudnick
- Division of Gastroenterology, Hepatology & Nutrition
- Roy and Diana Vagelos Division of Biology & Biomedical Sciences (DBBS)
- DBBS - Developmental, Regenerative and Stem Cell Biology
- Institute of Clinical and Translational Sciences (ICTS)
- Bursky Center for Human Immunology & Immunotherapy Programs (CHiiPs)
- Center of Regenerative Medicine
- Siteman Cancer Center
Person
David Wilson
- Division of Hematology & Oncology
- Roy and Diana Vagelos Division of Biology & Biomedical Sciences (DBBS)
- DBBS - Biochemistry, Biophysics, and Structural Biology
- DBBS - Developmental, Regenerative and Stem Cell Biology
- Institute of Clinical and Translational Sciences (ICTS)
- Siteman Cancer Center
Person
Charles Goss
- Roy and Diana Vagelos Division of Biology & Biomedical Sciences (DBBS)
- Institute for Informatics, Data Science and Biostatistics (I2DB)
- DBBS - Biomedical Informatics and Data Science
- Institute of Clinical and Translational Sciences (ICTS)
- Global Health Center (GHC)
- Center for Biostatistics and Data Science (CBDS)
Person
Jason Yi
- Department of Neuroscience
- Roy and Diana Vagelos Division of Biology & Biomedical Sciences (DBBS)
- DBBS - Biochemistry, Biophysics, and Structural Biology
- DBBS - Molecular Cell Biology
- DBBS - Neurosciences
- Institute of Clinical and Translational Sciences (ICTS)
- Hope Center for Neurological Disorders
- Intellectual and Developmental Disabilities Research Center (IDDRC)
Person
Susan Dutcher
- Department of Genetics
- Roy and Diana Vagelos Division of Biology & Biomedical Sciences (DBBS)
- DBBS - Human and Statistical Genetics
- DBBS - Molecular Cell Biology
- DBBS - Molecular Genetics and Genomics
- DBBS - Plant and Microbial Biosciences
- Institute of Clinical and Translational Sciences (ICTS)
Person
Moe Mahjoub
- Division of Nephrology
- Roy and Diana Vagelos Division of Biology & Biomedical Sciences (DBBS)
- DBBS - Biochemistry, Biophysics, and Structural Biology
- DBBS - Developmental, Regenerative and Stem Cell Biology
- DBBS - Molecular Cell Biology
- Institute of Clinical and Translational Sciences (ICTS)
- Hope Center for Neurological Disorders
Person
Laura Schuettpelz
- Division of Hematology & Oncology
- Roy and Diana Vagelos Division of Biology & Biomedical Sciences (DBBS)
- DBBS - Developmental, Regenerative and Stem Cell Biology
- DBBS - Immunology
- DBBS - Molecular Genetics and Genomics
- Institute of Clinical and Translational Sciences (ICTS)
- Bursky Center for Human Immunology & Immunotherapy Programs (CHiiPs)
- Center of Regenerative Medicine
- Siteman Cancer Center
Person
Rita Brookheart
- Division of Nutritional Science & Obesity Medicine
- Roy and Diana Vagelos Division of Biology & Biomedical Sciences (DBBS)
- DBBS - Molecular Cell Biology
- Institute of Clinical and Translational Sciences (ICTS)
- Center of Regenerative Medicine
- Mentorship to Enhance Diversity in Academia (MEDA)
Person
Riva Brik
- Department of Pediatric Rheumatology
- Technion-Israel Institute of Technology
- Rambam Health Care Campus Israel
- Institute of Human Genetics
- Dept. of Pediatrics
- Department of Pediatrics
- Department of Rheumatology
- Pediatric Rheumatology Services
- Department of Human Genetics
- Unit of Biochemistry and Rappaport Institute for Research in the Medical Sciences
- Sheba Medical Center at Tel Hashomer
- Department of Human Genetics
- Tel Aviv University
- Institute of Human Genetics
- Technion Israel Institute of Technology
External person
S. W. Cheung
- Department of Molecular and Human Genetics
- Baylor College of Medicine
- 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
- Department of Molecular and Human Genetics
- Department of Molecular and Human Genetics
- Baylor Genetics
- Department of Molecular and Human Genetics
- Baylor Genetics, LLC
- Department of Molecular and Human Genetics
- Texas Children's Hospital Houston
External person
A. Patel
- 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
- 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
- Texas Children's Hospital Houston
External person
A. L. Beaudet
- Department of Pediatrics
- Department of Molecular and Human Genetics
- Baylor College of Medicine
- Department of Molecular and Human Genetics
- Department of Molecular and Human Genetics
- Molecular and Human Genetics
- Department of Molecular and Human Genetics
- Department of Molecular and Human Genetics
- Molecular and Human Genetics Department
- Department of Molecular and Human Genetics
- Dept. of Molec. and Human Genetics
- Department of Pediatrics
- Department of Molecular and Human Genetics
- Department of Molecular and Human Genetics
- Department of Molecular and Human Genetics
- Departments of Molecular and Human Genetics
- Membership of the SPARK Consortium Members is Provided in the Acknowledgements
- Texas Children's Hospital Houston
External person
J. R. Lupski
- Department of Pediatrics
- Baylor College of Medicine
- Texas Children's Hospital
- Human Genome Sequencing Center
- Department of Pediatrics
- Department of Molecular and Human Genetics
- Department of Pediatrics
- Department of Pediatrics
- Department of Molecular and Human Genetics
- Department of Molecular and Human Genetics
- Department of Molecular and Human Genetics
- Dept. of Molec. and Human Genetics
- Department of Molecular and Human Genetics
- Department of Genetics
- Texas Children's Hospital
- Texas Children's Hospital Houston
- Texas Children's Hospital
External person
Jill A. Rosenfeld
- Baylor College of Medicine
- Department of Molecular and Human Genetics
- Molecular and Human Genetics
- Signature Genomic Laboratories
- PerkinElmer, Inc.
- National Institutes of Health
- Signature Genomic Laboratories
- Model Organism Screening Center
- Human Genome Sequencing Center
- Baylor Genetics
- Signature Genomic Laboratories, LLC
- Department of Molecular and Human Genetics
- Baylor Genetics, LLC
- BCM
- BCM
External person
P. Stankiewicz
- Department of Molecular and Human Genetics
- Baylor College of Medicine
- Department of Molecular and Human Genetics
- Institute of Mother and Child
- Department of Molecular and Human Genetics
- Department of Medical Genetics
- Molecular and Human Genetics
- Baylor Genetics
- Department of Medical Genetics
- Department of Molecular and Human Genetics
- Department of Molecular and Human Genetics
- Department of Molecular and Human Genetics
- Department of Genetics
- Department of Molecular and Human Genetics
- Department of Molecular and Human Genetics
- Department of Molecular and Human Genetics
- Baylor Genetics, LLC
External person
Daniel J. Wegner
- Edward Mallinckrodt Departments of Pediatrics and Pharmacology
- Washington University St. Louis
- Division of Newborn Medicine
- Edward Mallinckrodt Department of Pediatrics
- Department of Pediatrics
- Department of Pediatrics
- University of Washington
- Department of Pediatrics
- Division of Neonatology
- Washington university
- Edward Mallinckrodt Department of Pediatrics
External person
Ruth Gershoni-Baruch
- Institute of Human Genetics
- Technion-Israel Institute of Technology
- Rambam Health Care Campus Israel
- Institute of Human Genetics
- Dept. of Pediatrics
- Department of Pediatrics
- Unit of Biochemistry and Rappaport Institute for Research in the Medical Sciences
- Department of Medical Genetics
- Sheba Medical Center at Tel Hashomer
- Department of Human Genetics
- Tel Aviv University
- Institute of Human Genetics
- University of Haifa
- Technion Israel Institute of Technology
External person
Boris Keren
- Département de Génétique
- Assistance publique – Hôpitaux de Paris
- AP-HP
- Sorbonne Université
- Institut national de la santé et de la recherche médicale
- CNRS UMR 7225
- UPMC Univ. Paris 06
- Birmingham Women's and Children's NHS Foundation Trust
External person
Carlos A. Bacino
- Baylor College of Medicine
- Department of Molecular and Human Genetics
- Department of Molecular and Human Genetics
- Department of Molecular and Human Genetics
- Model Organism Screening Center
- Department of Molecular and Human Genetics
- Department of Molecular and Human Genetics
- BCM
- BCM
- Texas Children's Hospital Houston
External person
Seema R. Lalani
- Baylor College of Medicine
- Departments of Molecular and Human Genetics
- Department of Molecular and Human Genetics
- Molecular and Human Genetics
- National Institutes of Health
- Model Organism Screening Center
- Department of Molecular and Human Genetics
- Human Genome Sequencing Center
- Department of Molecular and Human Genetics
- Department of Molecular and Human Genetics
- BCM
- BCM
- Texas Children's Hospital Houston
External person
Shashikant Kulkarni
- Edward Mallinckrodt Departments of Pediatrics and Pharmacology
- Department of Pathology and Immunology
- Washington University St. Louis
- Department of Pathology and Immunology
- Department of Genomics and Pathology Services
- Department of Pathology
- Department of Genetics
- Department of Pediatrics
- Department of Genetics
- Department of Genetics
- Department of Pathology and Immunology
- Baylor College of Medicine
- Department of Molecular and Human Genetics
- Department of Pathology and Immunology
- Genome Center
- Association for Molecular Pathology
- Interpretation of Sequence Variants in Somatic Conditions Working Group of the Clinical Practice Committee
- Baylor Genetics
- Department of Pediatrics
- Department of Molecular and Human Genetics
- Departments of Pathology and Immunology
- Department of Pathology and Immunology
- Division of Oncology
- Divisions of Critical Care and Cardiology
- Department of Pathology and Immunology
- Department of Genetics
- Department of Pathology and Immunology
- Department of Pathology and Immunology, Department of Pediatrics, Department of Genetics
- Department of Pathology and Immunology, Department of Pediatrics, Department of Genetics
- Dan L. Duncan Cancer Center
- Department of Pediatrics
- Alvin J. Siteman Cancer Center
- Neuropathology Division
- Department of Genetics
- Department of Pathology and Immunology, Department of Pediatrics, Department of Genetics
- Department of Pathology and Immunology, Department of Pediatrics, Department of Genetics
- Department of Pathology and Immunology
- Department of Pediatrics
- Department of Genetics
- Department of Genetics
- Baylor Genetics, LLC
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Division of Laboratory and Genomic medicine
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Pathology and Immunology
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Department of Genetics
- Texas Children's Hospital Houston
- KEM Hospital
External person
V. Reid Sutton
- Baylor College of Medicine
- Department of Molecular and Human Genetics
- Dept. of Molec. and Human Genetics
- Department of Molecular and Human Genetics
- Baylor Genetics
- Department of Molecular and Human Genetics
- Department of Molecular and Human Genetics
- Baylor Genetics, LLC
- Texas Children's Hospital Houston
External person
T. Sahoo
- Department of Molecular and Human Genetics
- Baylor College of Medicine
- Vanderbilt University
- Developmental Medicine
- 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
- Texas Children's Hospital Houston
External person
Aziz Shaibani
- Nerve and Muscle Center of Texas
- Baylor College of Medicine
- Department of Medicine
- Washington University St. Louis
- Department of Pediatrics
- Nerve and Muscle Center of Texas
- Nerve and Muscle Center of Texas
- Nerve and Muscle Center of Texas
External person
C. P. Schaaf
- Baylor College of Medicine
- Jan and Dan Duncan Neurological Research Institute
- Department of Molecular and Human Genetics
- Molecular and Human Genetics
- Department of Molecular and Human Genetics
- Department of Molecular and Human Genetics
- Department of Molecular and Human Genetics
- Center for Molecular Medicine Cologne
- University of Cologne
- Institute of Human Genetics
- Center for Rare Diseases
- Heidelberg University
- Texas Children's Hospital Houston
External person
B. H. Graham
- Baylor College of Medicine
- Department of Molecular and Human Genetics
- Molecular and Human Genetics
- National Institutes of Health
- Department of Molecular and Human Genetics
- 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 Hospital Houston
External person
Christine M. Eng
- Department of Molecular and Human Genetics
- Baylor College of Medicine
- National Institutes of Health
- Department of Molecular and Human Genetics
- Model Organism Screening Center
- Department of Molecular and Human Genetics
- Baylor Genetics Laboratories
- Baylor Genetics
- Baylor Genetics, LLC
- Membership of the SPARK Consortium Members is Provided in the Acknowledgements
- BCM
- BCM
External person
Richard E. Person
- Baylor College of Medicine
- Department of Molecular and Human Genetics
- GeneDX Inc
- Department of Molecular and Human Genetics
- Department of Molecular and Human Genetics
- OPKO Health, Inc.
External person
Marisa V. Andrews
- Edward Mallinckrodt Department of Pediatrics
- Washington University St. Louis
- Department of Pediatrics
- Baylor College of Medicine
- Human Genome Sequencing Center
- Fertility and Reproductive Medicine Center
External person
Fernando Scaglia
- Baylor College of Medicine
- Chinese University of Hong Kong
- 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
- Dept. of Molec. and Human Genetics
- Texas Children's Hospital Houston
- Prince of Wales Hospital Hong Kong
External person
Megan T. Cho
- GeneDX Inc
- National Institutes of Health
- Columbia University
- Department of Pediatrics
- New York University
- Department of Pediatrics
- OPKO Health, Inc.
External person
Cyril Mignot
- AP-HP
- Sorbonne Université
- CNRS UMR 7225
- Institut national de la santé et de la recherche médicale
- Centre de Référence Déficiences Intellectuelles de Causes Rares
- UPMC Univ. Paris 06
- Hôpital Armand Trousseau
- Assistance publique – Hôpitaux de Paris
- Centre de Référence Déficiences Intellectuelles de Causes Rares
- AP-HP Sorbonne Université
- Centre de Référence Déficiences Intellectuelles de Causes Rares
External person
Hussam Al-Kateb
- Department of Pathology and Immunology
- Washington University St. Louis
- Genomic and Pathology Service
- Department of Pathology and Immunology
- Department of Pathology and Immunology
- Cincinnati Children's Hospital Medical Center
- Department of Genomics and Pathology Services
- Mayo Clinic Rochester, MN
External person
Linda P. Manwaring
- Department of Pediatrics
- Washington University St. Louis
- Department of Pediatrics
- Division of Laboratory and Genomic medicine
- Department of Pediatrics
- Department of Pediatrics
External person
Oleg A. Shchelochkov
- Iowa Institute of Human Genetics
- University of Iowa
- Department of Molecular and Human Genetics
- Baylor College of Medicine
- Department of Molecular and Human Genetics
- Department of Pediatrics
- Department of Molecular and Human Genetics
- Human Genome Sequencing Center
- Department of Pediatrics
- Texas Children's Hospital Houston
External person
Marisa Vineyard
- Department of Pediatrics
- Washington University St. Louis
- Departments of Pediatrics and Genetics
- Department of Pediatrics
External person
John W. Belmont
- Human Genome Sequencing Center
- Baylor College of Medicine
- Department of Molecular and Human Genetics
- Department of Molecular and Human Genetics
- Department of Molecular and Human Genetics
- Human Genome Sequencing Center
- Department of Molecular and Human Genetics
- Texas Children's Hospital Houston
- Illumina, Inc.
- Genetic and Genomic Services PBC
External person
Claudia M.B. Carvalho
- Baylor College of Medicine
- Department of Molecular and Human Genetics
- Department of Molecular and Human Genetics
- Centro de Pesquisas René Rachou
- Fundação Oswaldo Cruz
- Pacific Northwest Diabetes Research Institute
External person
Laurence Faivre
- Université de Bourgogne
- Centre de Génétique
- Centre Georges-François Leclerc
- Children's Hospital
- Center for Genetics
- Equipe Génétique des Anomalies du Développement
- Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs
- Université de Bourgogne- Franche Comté
- Institut national de la santé et de la recherche médicale
- Centre de Reference maladies rares « Anomalies du Developpement et syndrome malformatifs » de l’Est
- Reference Center for Developmental Anomalies
- Centre de Genetique et Centre de Reference Anomalies du Developpement et Syndromes Malformatifs
- Centre de Reference maladies rares « Anomalies du Developpement et syndrome malformatifs » de l’Est
- INSERM U1231 'Lipides Nutrition Cancer'
- Hôpital d'Enfants CHU Dijon
- Functional Unit for Diagnostic Innovation in Rare Diseases
- CHRU de Dijon
External person
Panagiotis Katsonis
- 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
External person
Alexandra Afenjar
- Département de génétique médicale
- Assistance publique – Hôpitaux de Paris
- APHP
- Centre de Référence Déficiences Intellectuelles de Causes Rares
- Hôpital Armand Trousseau
- GRC ConCer-LD
- Département de génétique et embryologie médicale
- Centre de Référence malformations et maladies congénitales du cervelet
- Sorbonne Université
- Hôpital Trousseau, CHU de Tours
- Centre Hospitalier Régional Universitaire de Tours
External person
Keri Ramsey
- Translational Genomics Research Institute
- Neurogenomics Division
- Center for Rare Childhood Disorders
External person
Wendy K. Chung
- Columbia University
- Membership of the SPARK Consortium Members is Provided in the Acknowledgements
- Simons Foundation
- The Pediatric Neuromuscular Clinical Research Network
- Harvard University
External person
Benjamin Cogné
- Department of Medical Genetics
- Nantes Université
- Institut national de la santé et de la recherche médicale
- Service de Génétique Médicale
- CNRS
- CHU de Nantes
- Nantes University Hospital
- L'institut du Thorax
External person
Olivier Lichtarge
- Department of Biochemistry and Molecular Biology
- Department of Pharmacology
- Department of Molecular and Human Genetics
- Baylor College of Medicine
- Department of Molecular and Human Genetics
- Department of Molecular and Human Genetics
- Dept. of Molec. and Human Genetics
- Department of Molecular and Human Genetics
- Department of Molecular and Human Genetics
- University of California at San Francisco
- Department of Cellular and Molecular Pharmacology
External person
Rolph Pfundt
- Department of Human Genetics
- Radboud University Nijmegen
- Department of Human Genetics
- Donders Institute for Brain
- Radboudumc
External person
Caroline Nava
- Département de Génétique
- Assistance publique – Hôpitaux de Paris
- Institut national de la santé et de la recherche médicale
- AP-HP
- Sorbonne Université
- Institut du Cerveau et de la Moelle Épinière
- CNRS UMR 7225
- UPMC Univ. Paris 06
External person
Robin P. Goin-Kochel
- Baylor College of Medicine
- Autism Center
- Department of Pediatrics
- Department of Molecular and Human Genetics
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- Texas Children's Hospital Houston
External person
Parith Wongkittichote
- Washington University St. Louis
- University of Pennsylvania
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External person
Sarika U. Peters
- Signature Genomic Laboratories
- Department of Pediatrics
- Baylor College of Medicine
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- Leopold Meyer Center for Developmental Pediatrics
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- Texas Children's Hospital Houston
External person
Tobias B. Haack
- Institute of Medical Genetics and Applied Genomics
- University of Tübingen
- Helmholtz Zentrum München - German Research Center for Environmental Health
- Institute of Human Genetics
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- Technical University of Munich
External person
Brendan H. Lee
- Department of Molecular and Human Genetics
- Baylor College of Medicine
- Howard Hughes Medical Institute
- Department of Molecular and Human Genetics
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- Dept. of Molec. and Human Genetics
- Department of Molecular and Human Genetics
- Department of Pediatrics
- Department of Molecular and Human Genetics
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- Department of Molecular and Human Genetics
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- BCM
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- National Institutes of Health
- Texas Children's Hospital Houston
External person
Heinrich Sticht
- Institute of Biochemistry
- Friedrich-Alexander University Erlangen-Nürnberg
- Friedrich-Alexander-UniversitätErlangen-Nürnberg
- Emil-Fischer Center
External person
L. J. Wong
- Department of Molecular and Human Genetics
- Baylor College of Medicine
- Department of Molecular and Human Genetics
- Department of Medical Genetics Laboratories
- Department of Molecular and Human Genetics
- Department of Molecular and Human Genetics
- Washington University St. Louis
- Department of Pediatrics
- Medical Genetics Laboratories
- Baylor Genetics
- Department of Molecular and Human Genetics
- Baylor Genetics, LLC
External person
Bertrand Isidor
- Department of Medical Genetics
- Nantes Université
- Service de Génétique Médicale
- Clinical Genetics Unit
- CHU de Nantes
- Nantes University Hospital
- INSERM UMR-S 957
- L'institut du Thorax
- Nantes Hospital
External person
Suzanne Wendt
- Johannes Gutenberg University Mainz
- Department of Pediatrics
- Department of Pediatrics
External person
Ashok Vellodi
- University College London
- Metabolic Unit
- Great Ormond Street Hospital for Children NHS Foundation Trust
External person
S. A. Skinner
- Greenwood Genetics Center
- J.C. Self Res. Inst. of Hum. Genet.
- Membership of the SPARK Consortium Members is Provided in the Acknowledgements
- Greenwood Genetic Center
- Greenwood Genetic Center
External person
Carsten G. Bönnemann
- Division of Neurology
- Children's Hospital of Philadelphia
- University of Pennsylvania
- National Institutes of Health
- Department of Neurology
- Neuromuscular and Neurogenetic Disorders of Childhood Section
- Division of Neurology
- Division of Neurology
- Division of Neurology
- Departments of Neurology and Pediatrics
- The Children's Hospital of Philadelphia
External person
Shalini Jhangiani
- Baylor College of Medicine
- Human Genome Sequencing Center
- Department of Molecular and Human Genetics
- Dept. of Molec. and Human Genetics
External person
James E. Wraith
- Manchester University NHS Foundation Trust
- Willink Biochemical Genetics Unit
- Willink Biochemical Genetics Unit
- Imperial College Healthcare NHS Trust
- Genetic Medicine
- Royal Manchester Children's Hospital
External person
Chad Shaw
- Department of Medicine
- Dan L Duncan Cancer Center
- Baylor College of Medicine
- Department of Molecular and Human Genetics
- Department of Molecular and Human Genetics
- Department of Molecular and Human Genetics
- Baylor Genetics
- Department of Molecular and Human Genetics
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- Rice University
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External person
Joseph Shen
- Chinese Academy of Medical Sciences
- Department of Orthopedic Surgery
- Department of Medical Genetics and Metabolism
- Children's Hospital Central California
- Department of Molecular and Human Genetics
- Baylor College of Medicine
- Peking Union Medical College
- University of California at San Francisco
- University of California at Davis
External person
L. Bentur
- Pediatric Pulmonary Unit
- Pediatric Pulmonary Unit
- Rambam Health Care Campus Israel
- Pediatric Pulmonology Unit
- Technion-Israel Institute of Technology
- Pulmonary Physiology Section
- Div. of Paediatric Pulmonology
- Unit of Biochemistry and Rappaport Institute for Research in the Medical Sciences
External person
Sung Hae L. Kang
- Baylor College of Medicine
- Department of Molecular and Human Genetics
- Allina Health
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- Department of Molecular and Human Genetics
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- Department of Molecular and Human Genetics
External person
Joseph Muenzer
- Department of Pediatrics
- University of North Carolina at Chapel Hill
- Division of Pediatric Pulmonology
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- Wellstone Muscular Dystrophy Cooperative Research Center
- Gene Therapy Center
- Department of Pediatrics
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External person
Patricia I. Bader
- Parkview Hospital
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- Northeast Indiana Genetics
- Parkview Cytogenetic Laboratory
- Parkview Memorial Hospital
External person
D. Berkowitz
- Pediatric Gastroenterology Unit
- Rambam Health Care Campus Israel
- Technion-Israel Institute of Technology
- Department of Pediatrics
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- Dept. of Pediatrics
External person
M. Beck
- Villa Metabolica
- Johannes Gutenberg University Mainz
- Childrens Hospital
- Department of Pediatrics
- Department of Lysosomal Storage Disorder
- Department of Pediatrics
External person
J. R. German
- Department of Molecular and Human Genetics
- Department of Molecular and Human Genetics
- Baylor College of Medicine
- Department of Molecular and Human Genetics
- Department of Molecular and Human Genetics
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External person
Lisa T. Emrick
- National Institutes of Health
- Baylor College of Medicine
- Model Organism Screening Center
- Human Genome Sequencing Center
- Division of Neurology and Developmental Neuroscience
- Department of Neurology
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- BCM
- BCM
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External person
Maureen Cleary
- University College London
- Metabolic Unit
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External person
A. Vitobello
- UF Innovation en diagnostic genomique des maladies rares
- Institut national de la santé et de la recherche médicale
- Université de Bourgogne
- INSERM U1231 'Lipides Nutrition Cancer'
- Université de Bourgogne- Franche Comté
- CHRU de Dijon
External person
Chester W. Brown
- University of Tennessee Health Science Center
- Department of Pediatrics
- Department of Pediatrics/Genetics Division
- Baylor College of Medicine
- Department of Molecular and Human Genetics
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- Le Bonheur Children's Medical Center
- Texas Children's Hospital Houston
- Le Bonheur Children’s Hospital
External person
Uma Ramaswami
- Pediatric Metabolic Unit
- University of Cambridge
- Berkshire Healthcare NHS. Foundation Trust
- Paediatric Metabolic Unit
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External person
Eric W. Klee
- Center for Individualized Medicine
- Mayo Clinic Rochester, MN
- Department of Clinical Genomics
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External person
Suresh Vijayaraghavan
- Manchester University NHS Foundation Trust
- Birmingham Women's and Children's NHS Foundation Trust
- Inherited Metabolic Disease Unit
- Royal Manchester Children's Hospital
External person
Pengfei Liu
- Baylor College of Medicine
- Baylor Genetics, LLC
- Department of Molecular and Human Genetics
- Department of Molecular and Human Genetics
- Department of Molecular and Human Genetics
- Department of Molecular and Human Genetics
- Human Genome Sequencing Center
- 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
- 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
- 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
- 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
- BCM
- Department of Molecular and Human Genetics
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External person
Roberto Giugliani
- Medical Genetics Service
- Universidade Federal do Rio Grande do Sul
- Department of Genetics
- Gene Therapy Center
- Serviço de Genética Médica
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- Post-Graduation Program in Genetics and Molecular Biology - UFRGS
- Departamento de Genética
- Programa de Pós-Graduação em Genética e Biologia Molecular
- Department of Genetics/UFRGS
- Universidade Federal do Rio de Janeiro
External person
P. Harmatz
- Division of Ophthalmology
- UCSF Benioff Children's Hospital Oakland
- Department of Pediatrics
- Department of Gastroenterology and Nutrition
- Children's Hospital
External person
Muge Gucsavas-Calikoglu
- University of North Carolina at Chapel Hill
- Division of Pediatric Pulmonology
External person
Brian Ulbrich
- University of Cambridge
- Pediatric Metabolic Unit
- Cambridge University Hospitals NHS Foundation Trust
External person
William J. Craigen
- Department of Molecular and Human Genetics
- Baylor College of Medicine
- National Institutes of Health
- Department of Molecular and Human Genetics
- Model Organism Screening Center
- Baylor Genetics
- Department of Molecular and Human Genetics
- Department of Pediatrics
- Department of Molecular and Human Genetics
- Dept. of Molec. and Human Genetics
- Baylor Genetics, LLC
- BCM
- BCM
- Texas Children's Hospital Houston
External person
Koen L.I. van Gassen
- Utrecht University
- Department of Metabolic Diseases
- Department of Genetics
External person
Beth A. Kozel
- National Institutes of Health
- Department of Pediatrics
- Washington University St. Louis
- Department of Pediatrics
- Department of Cell Biology
- Dept. of Cell Biology and Physiology
- Dept. of Cell Biology and Physiology
- Division of Laboratory and Genomic medicine
- Center for Investigation of Membrane Excitability Diseases
- Division of Oncology
- Departments of Pediatrics and Genetics
- Current Affiliation
- Division of Genetics and Genomic Medicine
- Department of Cell Biology and Physiology
- Department of Cell Biology and Physiology
External person
Parul Jayakar
- Division of Genetics and Metabolism
- Miami Children's Hospital
- Nicklaus Children's Hospital
- Division of Clinical Genetics and Metabolic Disorders
- Nicklaus Children’s Hospital
External person
Gladys Zapata
- Baylor College of Medicine
- Department of Molecular and Human Genetics
- Department of Pediatrics
External person
David B. Beck
- Columbia University
- Departments of Pediatrics and Medicine
- National Institutes of Health
- New York University
External person
Ryan J. Taft
- University of Queensland
- Institute for Molecular Bioscience
- University of Queensland, Institute for Molecular Bioscience
- Illumina, Inc.
External person
Vinodh Narayanan
- Arizona Pediatric Neurology and Neurogenetics Associates
- Translational Genomics Research Institute
- Neurogenomics Division
- Center for Rare Childhood Disorders
External person
Gabriella Horvath
- Division of Biochemical Diseases
- Childrens Hospital
- University of British Columbia
- Vancouver General Hospital
External person
R. Beck
- Pediatric Pulmonary Unit
- Rambam Health Care Campus Israel
- Pediatric Intensive Care Unit
- Technion-Israel Institute of Technology
- Div. of Paediatric Pulmonology
External person
Patricia Wheeler
- Nemours Children's Hospital
- Division of Genetics
- Orlando Regional Medical Center
External person
André Reis
- Institute of Human Genetics
- Friedrich-Alexander University Erlangen-Nürnberg
External person
Pascal Joset
- Institute of Medical Genetics
- radiz – “Rare Disease Initiative Zurich
- University of Zurich
- University of Basel
External person
M. Berant
- Department of Pediatrics
- Technion-Israel Institute of Technology
- Dept. of Pediatrics
- Rambam Health Care Campus Israel
External person
Alex R. Paciorkowski
- Departments of Neurology
- Center for Neural Development and Disease
- University of Rochester
- Department of Neurology
- University of Washington
- Department of Pediatrics
- Department of Neurology
- Department of Biomedical Genetics
- Children's Hospital and Regional Medical Center Seattle
- Department of Neurology
- Division of Critical Care Medicine
- Washington University St. Louis
- Department of Neurology
- Department of Neurology, U Rochester
- Department of Neurology
- Center for Integrative Brain Research
- Department of Neurology
External person
Mahim Jain
- National Institutes of Health
- Baylor College of Medicine
- Department of Molecular and Human Genetics
- Model Organism Screening Center
- Center for Autism and Related Disorders (CARD)
- Kennedy Krieger Institute
External person
Marco Tartaglia
- IRCCS Ospedale pediatrico Bambino Gesù - Roma
- Istituto Superiore di Sanita
External person
Sumit Parikh
- Neurogenetics and Neurometabolism Program
- Cleveland Clinic Foundation
- Epilepsy Center
External person
Neil A. Hanchard
- National Institutes of Health
- Baylor College of Medicine
- Model Organism Screening Center
- Department of Molecular and Human Genetics
- Department of Pediatrics
- BCM
- BCM
- Texas Children's Hospital Houston
- Washington University St. Louis
External person
Elizabeth Roeder
- Children's Hospital of San Antonio
- University of Texas Health Science Center at San Antonio
- Department of Pediatrics
- Department of Pediatrics
- University of California at San Francisco
- Prenatal Detection Unit
- Baylor College of Medicine
- Department of Molecular and Human Genetics
- Department of Pediatrics
External person
Georgia Vasileiou
- Institute of Human Genetics
- Friedrich-Alexander University Erlangen-Nürnberg
External person
Mauricio Delgado
- Scottish Rite Hospital for Children
- University of Texas Southwestern Medical Center
- Department of Neurology
- Department of Pediatrics and Neurology and Neurotherapeutics
- Department of Neurology
- University of Texas at Dallas
- Department of Neurology and Neurotherapeutics
External person
E. E. Palmer
- GOLD (Genetics of Learning and Disability) Service
- Hunter Health
- School of Women's and Children's Health
- University of New South Wales
- Genetics of Learning Disability Service
- Sydney Children's Hospital
- Sydney Children's Hospital
- Garvan Institute of Medical Research
- Genetics of Learning Disability Service
- School of Women's and Children's Health
External person
Weimin Bi
- Baylor College of Medicine
- Baylor Genetics
- Department of Molecular and Human Genetics
- Department of Molecular and Human Genetics
- Department of Molecular and Human Genetics
- Baylor Genetics, LLC
External person
L. Potocki
- Department of Molecular and Human Genetics
- Department of Molecular and Human Genetics
- Baylor College of Medicine
- National Institutes of Health
- Model Organism Screening Center
- Department of Molecular and Human Genetics
- BCM
- BCM
- Texas Children's Hospital Houston
External person
Patrick R. Blackburn
- Department of Laboratory Medicine and Pathology
- Mayo Clinic Rochester, MN
- Center for Individualized Medicine
- St. Jude Children Research Hospital
External person
Rhonda E. Schnur
- GeneDX Inc
- University of Pennsylvania
- Clinical Genetics Department
- Rutgers - The State University of New Jersey, New Brunswick
- OPKO Health, Inc.
- Cooper University Health Care
- The Children's Hospital of Philadelphia
- Rutgers University
External person
Heather C. Mefford
- University of Washington
- Brotman Baty Institute for Precision Medicine
- PNW Research Station
- St. Jude Children Research Hospital
- Seattle Children's Hospital
External person
Donna M. Muzny
- Human Genome Sequencing Center
- Department of Molecular and Human Genetics
- Baylor College of Medicine
- Department of Molecular and Human Genetics
- Dept. of Molec. and Human Genetics
- Canada's Michael Smith Genome Sciences Centre
- University of British Columbia
- National Institutes of Health
- Model Organism Screening Center
- Human Genome Sequencing Center and Department of Molecular and Human Genetics
- Department of Molecular and Human Genetics
- Department of Molecular and Human Genetics
- Department of Genetics and Genomic Sciences
- Icahn School of Medicine at Mount Sinai
- Stanford University
- Department of Genetics
- Membership of the SPARK Consortium Members is Provided in the Acknowledgements
- Human Genome Sequencing Center
- University of Texas MD Anderson Cancer Center
- Provincial Health Services Authority
- Pompeu Fabra University
- The Barcelona Institute of Science and Technology
- University of Tübingen
External person
M. Lance Cooper
- 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
External person
Frances Elmslie
- South West Thames Regional Genetics Service
- University of London
- South West Thames Regional Genetics Centre
- South West Thames Regional Genetics Service
- St George's University Hospitals NHS Foundation Trust
- St. George's University of London
- University of London
External person
Timothy Lotze
- The Blue Bird Circle Clinic for Multiple Sclerosis
- Baylor College of Medicine
- Department of Pediatrics
- Neurology and Developmental Neuroscience Department
- The Blue Bird Circle Clinic for Multiple Sclerosis
- Children's National Medical Center
- Department of Neurology
- Texas Children's Hospital
- Division of Neurology and Developmental Neuroscience
- Department of Pediatrics
- University of California at San Francisco
- Department of Child Neurology
- Department of Neurology
- New York University
- University of Utah
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- Texas Children's Hospital Houston
- University of Texas Southwestern Medical Center
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- Child Neurology
External person
Rodrigo Tzovenos Starosta
- Washington University St. Louis
- University of Colorado Anschutz Medical Campus
- Universidade Federal do Rio Grande do Sul
External person
Marilyn C. Jones
- Department of Pediatrics
- University of California at San Diego
- Rady Children's Hospital
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External person
Wendy Chung
- Laboratory of DNA Sequencing and Chemical Biology
- Columbia University
- Departments of Pediatrics and Medicine
- Division of Cardiology
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- University of North Carolina at Chapel Hill
- Department of Pediatrics
- Spinal Muscular Atrophy Foundation
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- Department of Medicine
- Department of Medicine
- New York University
- Department of Pediatrics
- Simons Foundation
External person
Avi Livneh
- Department of Human Genetics
- Technion-Israel Institute of Technology
- Rambam Health Care Campus Israel
- Sheba Medical Center at Tel Hashomer
- Tel Aviv University
- Institute of Human Genetics
- Technion Israel Institute of Technology
External person
Bert B.A. de Vries
- Department of Human Genetics
- Radboud University Nijmegen
- Department of Human Genetics
- Donders Institute for Brain
- Department of Human Genetics and Donders Centre for Neuroscience
- Department of Cognitive Neuroscience
External person
Gabriel C. Araujo
- Department of Psychology
- Washington University St. Louis
- Department of Psychology
- University of Washington
- Department of Psychology
- Washington University
External person
M. Proud
- Department of Neurology
- Baylor College of Medicine
- Department of Pediatrics
- Department of Pediatrics
- Texas Children's Hospital Houston
External person
Sharon E. Heath
- Division of Oncology
- Washington University St. Louis
- Division of Oncology
- Division of Oncology
- Division of Oncology
- 4911 Barnes Jewish Plaza
- Department of Medicine
- Division of Oncology
- Department of Medicine
External person
S. Amato
- Department of Medical Genetics
- Tufts University
- Eastern Maine Healthcare Systems
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External person
Julien Buratti
- Département de Génétique
- Assistance publique – Hôpitaux de Paris
- AP-HP
- Sorbonne Université
External person
Richard A. Gibbs
- Human Genome Sequencing Center
- Department of Molecular and Human Genetics
- Baylor College of Medicine
- Department of Molecular and Human Genetics
- Department of Molecular and Human Genetics
- Human Genome Sequencing Center
- Dept. of Molec. and Human Genetics
- Canada's Michael Smith Genome Sciences Centre
- University of British Columbia
- Massachusetts Institute of Technology
- Medical Sequencing Analysis and Informatics
- Department of Molecular and Human Genetics
- Department of Structural and Computational Biology and Molecular Biophysics
- Department of Molecular and Human Genetics
- Department of Molecular and Human Genetics
- Provincial Health Services Authority
- Membership of the SPARK Consortium Members is Provided in the Acknowledgements
- Mayo Clinic Rochester, MN
- Ontario Institute for Cancer Research
- Texas Children s Feigin Center
External person
Frank J. Probst
- Baylor College of Medicine
- Department of Molecular and Human Genetics
- Department of Molecular and Human Genetics
- Department of Molecular and Human Genetics
- Texas Children's Hospital Houston
External person
Sandra Donkervoort
- National Institutes of Health
- Neuromuscular and Neurogenetic Disorders of Childhood Section
External person
Nicola Brunetti-Pierri
- Washington University St. Louis
- Department of Pediatrics
- Department of Pediatrics
- University of Naples Federico II
- Department of Molecular and Human Genetics
- Baylor College of Medicine
- Department of Molecular and Human Genetics
- Department of Molecular and Human Genetics
- Department of Translational Medicine
- Fondazione Telethon
- Department of Molecular and Human Genetics
- Department of Molecular and Human Genetics
- Texas Children's Hospital Houston
- University of Michigan, Ann Arbor
External person
Shulin Zhang
- Department of Medical Genetics Laboratories
- Department of Molecular and Human Genetics
- Baylor College of Medicine
- Case Western Reserve University
- Washington University St. Louis
- Department of Pediatrics
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External person
Christiane Zweier
- Institute of Human Genetics
- Friedrich-Alexander University Erlangen-Nürnberg
- University of Bern
External person
Anita Rauch
- Institute of Medical Genetics
- radiz – “Rare Disease Initiative Zurich
- University of Zurich
- Institute of Human Genetics
- Friedrich-Alexander University Erlangen-Nürnberg
External person
Siddharth Banka
- Manchester University NHS Foundation Trust
- University of Manchester
- Imperial College Healthcare NHS Trust
- Health Innovation Manchester
External person
Katherine M. Christensen
- Division of Medical Genetics
- SSM Cardinal Glennon Children's Medical Center
- Department of Pediatrics
- Saint Louis University
- SSM Health Cardinal Glennon Children's Medical Center
- Department of Pediatrics
External person
T. Grebe
- University of Arizona
- Department of Child Health
- St. Joseph's Hospital and Medical Center, Phoenix
- CHC Phoenix Genetics Program
- Department of Child Health
- Phoenix Children�s Hospital
External person
Alexander P.A. Stegmann
- Department of Clinical Genetics
- Maastricht University
- Department of Human Genetics
- Department of Clinical Genetics and School for Oncology & Developmental Biology
- Radboud University Nijmegen
External person
Katrin Õunap
- University of Tartu
- Department of Clinical Genetics
- Department of Clinical Genetics
- Broad Institute
- Tartu University Hospital
External person
Zhilian Xia
- 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
External person
Amber N. Pursley
- Baylor College of Medicine
- Department of Molecular and Human Genetics
- Department of Molecular and Human Genetics
- Texas Children's Hospital Houston
External person
John M. Graham
- Ahmanson Department of Pediatrics
- Department of Pediatrics
- University of California at Los Angeles
- Cedars-Sinai Medical Center
- Medical Genetics Institute
- Department of Pediatrics
- Department of Pediatrics
External person
Steven Sparagana
- Department of Pediatric Neurology
- Scottish Rite Hospital for Children
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- Department of Neurology
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External person
Alban Ziegler
- Université d'Angers
- Département de Biochimie et Génétique
- CNRS
- UMR CNRS 6015-INSERM 1083
External person
Alyssa A. Tran
- Baylor College of Medicine
- Department of Molecular and Human Genetics
- Model Organism Screening Center
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External person
Samarth S. Bhatt
- Baylor College of Medicine
- Department of Molecular and Human Genetics
- Department of Molecular and Human Genetics
External person
Nicholas Stong
- Institute for Genomic Medicine
- Columbia University
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External person
Monica H. Wojcik
- Department of Pediatrics
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External person
Sofia Douzgou
- Manchester University NHS Foundation Trust
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External person
Alexander P. Drew
- Northcott Neuroscience Laboratory
- Sydney Medical School
- University of Sydney
- ANZAC Research Institute
- Garvan Institute of Medical Research
External person
Sander Pajusalu
- Department of Clinical Genetics
- Department of Clinical Genetics
- University of Tartu
- Department of Genetics
- Yale University
- Broad Institute
- Tartu University Hospital
External person
María Mercedes Villanueva
- Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia
External person
Vandana Shashi
- Duke University
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- Duke
- Duke Nashville
External person
Jennifer Friedman
- University of California at San Diego
- Multimodal Imaging Laboratory
- Rady Children's Hospital
- Department of Neurosciences and Pediatrics UCSD/Rady Children’s Hospital San Diego
- Rady Children’s Institute for Genomic Medicine
External person
Alexander A.L. Jorge
- Unidade de Endocrinologia Do Desenvolvimento (LIM/42)
- Universidade de São Paulo
- University of Michigan, Ann Arbor
- Howard Hughes Medical Institute
- Unidade de Endocrinologia Genetica (LIM25)
External person
Holly Dubbs
- University of Pennsylvania
- Division of Neurology
- The Children's Hospital of Philadelphia
External person
Merav Lidar
- Department of Human Genetics
- Technion-Israel Institute of Technology
- Rambam Health Care Campus Israel
- Sheba Medical Center at Tel Hashomer
- Tel Aviv University
External person
Eli Shahar
- Pediatric Neurology Unit
- Child Neurology Unit
- Rambam Health Care Campus Israel
- Child Neurology Unit
- Technion-Israel Institute of Technology
External person
Mariana F.A. Funari
- Unidade de Endocrinologia Do Desenvolvimento (LIM/42)
- Universidade de São Paulo
External person
Richard A. Lewis
- National Institutes of Health
- Baylor College of Medicine
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- BCM
- Texas Children's Hospital Houston
- Cedars-Sinai Medical Center
External person
Bryce M. Paschal
- Center for Cell Signaling
- Departments of Biochemistry and Molecular Genetics
- University of Virginia
- Departments of Biochemistry and Molecular Genetics
External person
M. A. Gillentine
- Baylor College of Medicine
- Jan and Dan Duncan Neurological Research Institute
- Department of Molecular and Human Genetics
- Molecular and Human Genetics
- Department of Molecular and Human Genetics
- University of Washington
- Texas Children's Hospital Houston
- Seattle Children's Hospital
External person
Pasquale Striano
- Pediatric Neurology and Muscular Diseases Unit
- University of Genoa
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- Laboratory of Neurogenetics
External person
Giuseppe Zampino
- Istituto di Pediatria
- Catholic University of the Sacred Heart
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- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
External person
Tjitske Kleefstra
- Department of Human Genetics
- Radboud University Nijmegen
- Donders Institute for Brain
- Department of Human Genetics
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- Donders Institute for Brain
- Vincent Van Gogh Institute for Psychiatry
- Erasmus University Rotterdam
External person
Ayelet Erez
- Baylor College of Medicine
- Department of Molecular and Human Genetics
- Department of Molecular and Human Genetics
- Weizmann Institute of Science
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External person
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- University of Zurich
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M. Chen
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Rosanna Weksberg
- MRCFunctional Genomics Unit
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- Institute of Human Genetics
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I. Desguerre
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External person
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- Institut für Medizinische Genetik
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External person
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- University College London
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External person
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- Cleveland Clinic Foundation
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External person
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External person
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External person
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External person
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- Department of Genetics and Evolutionary Biology
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External person
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External person
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External person
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External person
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External person
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External person
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External person
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External person
Karen W. Gripp
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External person
Laurie Sprietsma
- Division of Laboratory and Genomic medicine
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External person
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External person
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External person
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External person
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- Baylor College of Medicine
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External person
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- University of Turin
- Department of Sciences of Public Health and Pediatrics
- Azienda Ospedaliera S. Luigi Gonzaga
External person
Manju A. Kurian
- University College London
- Developmental Neurosciences
- Department of Developmental Neurosciences
- Great Ormond Street Hospital for Children NHS Foundation Trust
External person
Craig Chinault
- Baylor College of Medicine
- Department of Molecular and Human Genetics
- Department of Molecular and Human Genetics
- Medical Genetics Laboratories
- Department of Molecular and Human Genetics
- Texas Children's Hospital Houston
External person
Fadi F. Hamdan
- University of Montreal
- Department of Pediatrics
- 4CHU Sainte-Justine Research Center
External person
Saskia M. Maas
- Department of Clinical Genetics
- University of Amsterdam
- Academic Medical Center (AMC)
External person
Catrina Fronick
- Genome Center
- Washington University St. Louis
- McDonnell Genome Institute
- McDonnell Genome Institute
- McDonnell Genome Institute
- The Genome Institute
- Genome Center
- Department of Genetics
- Cardiovascular Health Research Unit
- University of Washington
- Genome Institute
- Genome Sequencing Center
- Young Women's Breast Cancer Program
- National Institutes of Health
- Cancer Genome Atlas Program Office
- Genome Sequencing Center
- Stanford University
- Department of Urology
- School of Medicine
- Div. Pulmon. and Critical Care Med.
- Division of Oncology
- Norfolk and Norwich University Hospitals NHS Foundation Trust
- Siteman Cancer Center
- Department of Medicine
- Department of Medicine
External person
C. G. Minard
- Institute for Clinical and Translational Research
- Baylor College of Medicine
External person
Tony Roscioli
- New South Wales Health Pathology
- Centre for Clinical Genetics
- University of New South Wales
- Sydney Children's Hospital
- Genome.One
- New South Wales Ministry of Health
- Prince of Wales Hospital
- New South Wales Health Pathology Genomic Laboratory
- New South Wales Department Of Health
- NSW Health Pathology
External person
Marc W. Halterman
- Department of Neurology
- University of Rochester
- Center for Neural Development and Disease
External person
David R. Berk
- Division of Pulmonary and Critical Care Medicine
- Washington University St. Louis
- Division of Metabolism
- Division of Dermatology
- Division of Bone and Mineral Metabolism
- Stanford University
- Department of Dermatology
- Departments of Internal Medicine and Pediatrics
- Division of Infectious Diseases
- Division of Dermatology
- Department of Pathology and Immunology
- Department of Medicine
- Washington University
- Internal Medicine Division of Dermatology
- Department of Pediatrics
- Division of Dermatology
- Division of Dermatology
- Departments of Internal Medicine and Pediatrics
- Division of Dermatology
- Division of Dermatology
- Department of Internal Medicine
- Department of Pathology and Immunology
- Department of Dermatology
- University of Missouri at St. Louis
External person
Bernardo Blanco-Sánchez
- Université Paris Cité
- Imagine Institute
- Paris-Descartes Sorbonne Paris-Cité University
- University of Oregon
External person
Adolfo D. Garnica
- Department of Pediatrics
- Oklahoma State University
- Saint Francis Health System
External person
Susan M. White
- University of Melbourne
- Murdoch Children's Research Institute
- Victorian Clinical Genetics Services
External person
Ayman W. El-Hattab
- Division of Medical Genetics
- University of Missouri
- Department of Pediatrics
- King Saud bin Abdulaziz University for Health Sciences
- Division of Clinical Genetics and Metabolic Disorders
- Tawam Hospital
- Department of Child Health
- Abu Dhabi Health Services Company
External person
Dean G. Phelan
- University of Melbourne
- Department of Paediatrics
- Murdoch Children's Research Institute
External person
Richard C. Wang
- Department of Dermatology
- University of Texas Southwestern Medical Center
- Department of Dermatology
- University of Texas at Dallas
- University of Michigan, Ann Arbor
External person
Kathryn A. Miller
- Imperial College London
- Epidemiology and Biostatistics
- Albany Medical College
External person
H. Mendez-Figueroa
- Baylor College of Medicine
- Department of Obstetrics and Gynecology
- University of Texas Health Science Center at Houston
External person
Lorne Clarke
- University of British Columbia
- Provincial Health Services Authority
- BC Children's Hospital Research Institute
External person
Marta Pacio-Miguez
- Universidad Autónoma de Madrid
- Leipzig University
- Instituto de Salud Carlos III
- Hospital Universitario La Paz
External person
Markus Wolff
- Department of Neuropediatrics
- University of Tübingen
- Department of Pediatric Neurology and Developmental Medicine
- Vivantes Netzwerk für Gesundheit GmbH
External person
Jessica Douglas
- Divisions of Genetics
- Harvard University
- Division of Genetics and Genomics
- Boston Children's Hospital
External person
Michaël Nicouleau
- Imagine Institute
- Institut national de la santé et de la recherche médicale
- Université Paris 5
- Université Paris Cité
- Paris-Descartes Sorbonne Paris-Cité University
External person
Henrike O. Heyne
- Institute of Human Genetics
- Leipzig University
- University of Helsinki
- University of Potsdam
- Icahn School of Medicine at Mount Sinai
- Broad Institute
External person
Kristin Wigby
- Rady Children’s Institute for Genomic Medicine
- University of California at San Diego
- Rady Children's Hospital
External person
Carmen Orellana
- Unidad de Genética
- University of Valencia
- Unidad de Genética
- Hospital Universitario La Fe
- Hospital Clinico Universitario de Valencia
External person
Julian A. Martínez-Agosto
- Division of Cardiology
- University of California at Los Angeles
- Department of Human Genetics
- Department of Pediatrics
- Department of Human Genetics
- Division of Child and Adolescent Psychiatry
- Departments of Human Genetics and Psychiatry
External person
David Coman
- Department of Metabolic Medicine
- Lady Cilento Children's Hospital
- Children’s Health Queensland
External person
Sivagamy Sithambaram
- Manchester University NHS Foundation Trust
- Health Innovation Manchester
External person
Nicola Foulds
- University of Southampton
- Wessex Clinical Genetics Service
- Princess Anne Hospital
- Salisbury NHS Foundation Trust
- Faculty of Medicine
- University Hospital Southampton NHS Foundation Trust
- Wessex Clinical Genetics Service
External person
Chongsheng He
- Department of Cell and Developmental Biology
- University of Pennsylvania
- Hunan University
External person
Xénia Latypova
- Nantes Université
- Service de Génétique Médicale
- CHU de Nantes
- Nantes University Hospital
- Hôpital Robert Debré AP-HP
External person
Arve Vollo
- Nord-Trøndelag Health Trust
- Hospital of Østfold
- Hospital of Ostfold N-1603 Fredrikstad
- Hospital of Østfold
External person
Boris Lenhard
- Computational Regulatory Genomics Group
- Institute of Clinical Sciences
- Imperial College London
- Medical Research Council
- University of Bergen
External person
Janet Koster
- Laboratory Genetic Metabolic Diseases
- University of Amsterdam
- Academic Medical Center (AMC)
External person
Maria Iascone
- Ospedali Riuniti di Bergamo
- Laboratorio di Genetica Medica
- Papa Giovanni XXIII Hospital
External person