• Source: Scopus
19982022

Research activity per year

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Network

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

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

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

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

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

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

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

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

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

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

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

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

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

External person

Megan T. Cho

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

External person

Ganka Douglas

  • GeneDX Inc

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

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

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

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

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

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

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

Wendy K. Chung

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

External person

Rolph Pfundt

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

External person

Boris Keren

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

External person

Robin P. Goin-Kochel

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

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

External person

Sarika U. Peters

  • Signature Genomic Laboratories
  • Department of Pediatrics
  • Baylor College of Medicine
  • Vanderbilt University
  • Department of Molecular and Human Genetics
  • Department of Pediatrics
  • Department of Pediatrics
  • Leopold Meyer Center for Developmental Pediatrics
  • Department of Molecular and Human Genetics
  • Department of Pediatrics
  • Texas Children's Hospital Houston

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
  • Department of Molecular and Human Genetics
  • Dept. of Molec. and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Pediatrics
  • Department of Molecular and Human Genetics
  • Human Genome Sequencing Center
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • BCM
  • BCM
  • 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

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

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

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

Suzanne Wendt

  • Johannes Gutenberg University Mainz
  • Department of Pediatrics
  • Department of Pediatrics

External person

Ashok Vellodi

  • University College London
  • Metabolic Unit

External person

Carsten G. Bönnemann

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

External person

James E. Wraith

  • Manchester University NHS Foundation Trust
  • Willink Biochemical Genetics Unit
  • Willink Biochemical Genetics Unit
  • Imperial College Healthcare NHS Trust
  • Genetic Medicine
  • St Mary's Hospital – Imperial College Healthcare NHS Trust
  • Royal Manchester Children's Hospital

External person

Joseph Shen

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

External person

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
  • Minneapolis Heart Institute
  • 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

Joseph Muenzer

  • Department of Pediatrics
  • University of North Carolina at Chapel Hill
  • Division of Pediatric Pulmonology
  • Department of Genetics
  • Wellstone Muscular Dystrophy Cooperative Research Center
  • Gene Therapy Center
  • Department of Pediatrics
  • Wellstone Muscular Dystrophy Cooperative Research Center

External person

Patricia I. Bader

  • Parkview Hospital
  • Department of Cytogenetics
  • 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
  • Department of Pediatric Gastroenterology
  • Dept. of Pediatrics

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

M. Beck

  • Villa Metabolica
  • Johannes Gutenberg University Mainz
  • Childrens Hospital
  • Department of Pediatrics
  • Department of Lysosomal Storage Disorder
  • Department of Pediatrics

External person

Maria J. Guillen Sacoto

  • GeneDX Inc
  • Clinical Genomics Program

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
  • Department of Molecular and Human Genetics

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

External person

Maureen Cleary

  • University College London
  • Metabolic Unit

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

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

External person

Alan Kimura

  • Shire
  • Clinical Development

External person

Jane Juusola

  • GeneDX Inc

External person

Uma Ramaswami

  • Pediatric Metabolic Unit
  • University of Cambridge
  • Berkshire Healthcare NHS. Foundation Trust
  • Paediatric Metabolic Unit
  • Cambridge University Hospitals NHS Foundation Trust
  • Royal Free London NHS Foundation Trust

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

External person

Roberto Giugliani

  • Medical Genetics Service
  • Universidade Federal do Rio Grande do Sul
  • Department of Genetics
  • Gene Therapy Center
  • Serviço de Genética Médica
  • Post-Graduation Program in Biological Sciences: Biochemistry - UFRGS
  • 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

Cyril Mignot

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

External person

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
  • Institute of Human Genetics
  • Technical University of Munich

External person

Muge Gucsavas-Calikoglu

  • University of North Carolina at Chapel Hill
  • Division of Pediatric Pulmonology

External person

Roger E. Stevenson

  • Greenwood Genetics Center
  • J.C. Self Res. Inst. of Hum. Genet.

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

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

Gabriella Horvath

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

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

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

Shalini Jhangiani

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

External person

M. Berant

  • Department of Pediatrics
  • Technion-Israel Institute of Technology
  • Dept. of Pediatrics
  • Rambam Health Care Campus Israel

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
  • Baylor Genetics, LLC

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

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

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

Heather C. Mefford

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

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

Wendy Chung

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

External person

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

External person

Amber Begtrup

  • GeneDX Inc

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

Qin Sun

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

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

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
  • Department of Pediatrics
  • Le Bonheur Children's Medical Center
  • Texas Children's Hospital Houston

External person

M. Proud

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

External person

C. Skinner

  • Greenwood Genetics Center
  • J.C. Self Res. Inst. of Hum. Genet.

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

External person

S. Amato

  • Department of Medical Genetics
  • Tufts University
  • Eastern Maine Medical Center
  • Department of Medical Genetics

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
  • British Columbia Cancer Agency
  • Membership of the SPARK Consortium Members is Provided in the Acknowledgements

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

External person

Daniela Del Gaudio

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

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
  • Department of Pathology

External person

Christiane Zweier

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

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

Erin Torti

  • Department of Pediatrics
  • Saint Louis University
  • GeneDX Inc

External person

Roxanne Zascavage

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

External person

T. Grebe

  • University of Arizona
  • Department of Child Health
  • St. Joseph's Hospital and Medical Center
  • CHC Phoenix Genetics Program
  • Department of Child Health
  • Phoenix Children�s Hospital

External person

Katrin Õunap

  • University of Tartu
  • Department of Clinical Genetics
  • Department of Clinical Genetics
  • Broad Institute

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

Emily Fassi

  • Department of Pediatrics
  • Washington University St. Louis

External person

Steven Sparagana

  • Department of Pediatric Neurology
  • Scottish Rite Hospital for Children
  • University of Texas Southwestern Medical Center
  • Department of Neurology
  • Department of Neurology

External person

Christel Thauvin

  • Université de Bourgogne

External person

Bernt Popp

  • Leipzig University
  • Friedrich-Alexander University Erlangen-Nürnberg

External person

R. A. Martin

  • Shire
  • Saint Louis University
  • Washington University St. Louis

External person

Parul Jayakar

  • Division of Genetics and Metabolism
  • Miami Children's Hospital
  • Nicklaus Children's Hospital
  • Division of Clinical Genetics and Metabolic Disorders

External person

Alyssa A. Tran

  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • Model Organism Screening Center
  • BCM
  • BCM

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

External person

Monica H. Wojcik

  • Department of Pediatrics
  • Harvard University
  • Broad Institute

External person

Ryan J. Taft

  • University of Queensland
  • Institute for Molecular Bioscience
  • University of Queensland, Institute for Molecular Bioscience
  • Illumina

External person

Sofia Douzgou

  • Manchester University NHS Foundation Trust
  • University of Manchester
  • Imperial College Healthcare NHS Trust
  • St Mary's Hospital – Imperial College Healthcare NHS Trust
  • University of Bergen

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

External person

Katy Barwick

  • University College London

External person

María Mercedes Villanueva

  • Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia

External person

Vandana Shashi

  • Duke University
  • National Institutes of Health
  • Duke Hospital
  • Duke
  • Duke Nashville

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

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

Ashley C. Taylor

  • University of Oklahoma

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

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

Gayle S. Patel

  • Clinical Genetics
  • Texas Oncology

External person

Kun Xia

  • Central South 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
  • BCM
  • BCM
  • Texas Children's Hospital Houston

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

External person

Marwan K. Tayeh

  • University of Michigan, Ann Arbor
  • Indiana University Bloomington

External person

J. Reynolds

  • Shodair Children’s Hospital
  • Medical Genetics

External person

Pasquale Striano

  • Pediatric Neurology and Muscular Diseases Unit
  • University of Genoa
  • IRCCS Istituto Giannina Gaslini - Genova
  • Laboratory of Neurogenetics

External person

Pia Zacher

  • The Saxon Epilepsy Center Kleinwachau

External person

Ayelet Erez

  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Weizmann Institute of Science
  • Department of Biological Regulation

External person

Keri Ramsey

  • Translational Genomics Research Institute
  • Neurogenomics Division
  • Center for Rare Childhood Disorders

External person

Jonathan S. Berg

  • Department of Genetics
  • Department of Medicine
  • University of North Carolina at Chapel Hill
  • Department of Genetics
  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Pediatrics

External person

Leah Kasinetz

  • Institute of Human Genetics
  • Rambam Health Care Campus Israel
  • Unit of Biochemistry and Rappaport Institute for Research in the Medical Sciences
  • Technion-Israel Institute of Technology

External person

S. Bernes

  • Phoenix Children's Hospital
  • Department of Neurology

External person

Arjan Bouman

  • Erasmus University Rotterdam

External person

André Reis

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

External person

Angus Clarke

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

External person

Joseph T.C. Shieh

  • University of California at San Francisco

External person

Jamal Ghoumid

  • Université de Lille
  • CHU Lille

External person

Pascal Joset

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

External person

Holly E. Babcock

  • Children’s National Hospital

External person

Elysa Marco

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

External person

Ladonna L. Immken

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

External person

Mark C. Hannibal

  • Div. of Genet. and Devmtl. Medicine
  • University of Michigan, Ann Arbor
  • Department of Pediatrics and Communicable Diseases
  • Division of Genetic Medicine
  • University of Washington
  • Div. of Genet. and Devmtl. Medicine

External person

Reza Maroofian

  • Medical Research
  • Royal Devon & Exeter NHS Foundation Trust
  • University College London
  • St. George's University of London

External person

Rebecca Willaert

  • GeneDX Inc
  • Baylor Genetics, LLC

External person

Seungbeom Hong

  • Computational Bioscience Research Center (CBRC)
  • King Abdullah University of Science and Technology

External person

Kshitij Mankad

  • University College London

External person

Eva H. Brilstra

  • Department of Genetics
  • Utrecht University

External person

Molly Snyder

  • Department of Neurology
  • University of Texas Southwestern Medical Center

External person

Raanan Shamir

  • Technion-Israel Institute of Technology
  • Department of Pediatrics
  • Unit of Biochemistry and Rappaport Institute for Research in the Medical Sciences
  • Rambam Health Care Campus Israel
  • Department of Pediatric Gastroenterology

External person

S. C.Sreenath Nagamani

  • Baylor College of Medicine

External person

Olajumoke Oladipo

  • Washington University St. Louis
  • Department of Pathology and Immunology
  • Department of Pathology and Immunology
  • North Shore-Long Island Jewish Health System
  • Department of Pathology Immunology
  • Department of Pathology and Immunology
  • Division of Laboratory and Genomic Medicine
  • Department of Pathology/Laboratory Medicine

External person

Stefan T. Arold

  • Computational Bioscience Research Center (CBRC)
  • King Abdullah University of Science and Technology

External person

Alyssa Gates

  • Kaiser Permanente

External person

Emma Hobson

  • Leeds Teaching Hospitals NHS Trust

External person

R. Gershoni-Baruch

  • Department of Pediatrics
  • Technion-Israel Institute of Technology
  • Department of Human Genetics

External person

Velimir Gayevskiy

  • Garvan Institute of Medical Research

External person

A. C. Chinault

  • University of California at Los Angeles
  • Baylor College of Medicine
  • Medical Genetics Laboratories
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics

External person

Benjamin Cogné

  • Department of Medical Genetics
  • Université de Nantes
  • Institut national de la santé et de la recherche médicale
  • Service de Génétique Médicale
  • CNRS
  • CHU de Nantes
  • Nantes University Hospital

External person

Livija Medne

  • Department of Neurology
  • University of Pennsylvania
  • Division of Neurology
  • Division of Neurology
  • Department of Pediatrics

External person

Richard J. Martin

  • Newcastle upon Tyne Hospitals NHS Foundation Trust
  • Shire
  • Washington University St. Louis

External person

Sara Cathey

  • Greenwood Genetics Center

External person

Jeanne Hansen

  • University of Rochester
  • Center for Neural Development and Disease

External person

Michaela V. Bonfert

  • Ludwig Maximilian University of Munich

External person

Nicole M. Helton

  • Department of Internal Medicine
  • Division of Oncology
  • Division of Oncology
  • Department of Medicine
  • Washington University St. Louis
  • Department of Medicine
  • Division of Oncology
  • Division of Oncology
  • 4911 Barnes Jewish Plaza

External person

Marie José van den Boogaard

  • Department of Genetics
  • Utrecht University

External person

Kathleen A. Leppig

  • Kaiser Permanente
  • Genetic Services
  • Group Health Cooperative

External person

Johan Lundgren

  • Lund University

External person

Matthew Hunter

  • Victorian Clinical Genetics Services
  • Royal Children's Hospital
  • Monash University
  • Royal Children's Hospital, Melbourne

External person

Chin To Fong

  • Clinic of Inherited Metabolic Disease
  • University of Rochester
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Pediatrics
  • Departments of Pediatrics and of Medicine

External person

Sarah H. Elsea

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

External person

A. Lin

  • Harvard University

External person

Georgia Vasileiou

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

External person

Chelsi Snow

  • Center for Cell Signaling
  • University of Virginia

External person

T. Kandula

  • Sydney Children's Hospital
  • Sydney Children's Hospital
  • University of New South Wales

External person

Muddathir Hamad

  • King Khalid University
  • King Saud University

External person

Alba Sanchis-Juan

  • University of Cambridge
  • Cambridge University Hospitals NHS Foundation Trust

External person

Edwin P. Kirk

  • School of Women's and Children's Health
  • University of New South Wales
  • Dept of Medical Genetics
  • Centre for Clinical Genetics
  • School of Women's and Children's
  • Sydney Children's Hospital
  • New South Wales Ministry of Health
  • Sydney Children's Hospital
  • Prince of Wales Hospital
  • New South Wales Health Pathology Genomic Laboratory
  • School of Women's and Children's Health
  • New South Wales Department Of Health

External person

Jill V. Hunter

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

External person

Taraka Donti

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

External person

Gary D. Clark

  • Washington University St. Louis
  • Department of Pediatrics
  • Louisiana State University Health Sciences Center
  • Department of Neurology
  • Department of Neurology
  • Cain Foundation Laboratories
  • Baylor College of Medicine
  • Department of Pediatrics
  • Louisiana State University
  • Departments of Anatomy and Neurobiology
  • National Institutes of Health
  • Department of Pediatrics
  • Model Organism Screening Center
  • University Medical Center New Orleans
  • Louisiana State Univ. Medical Center
  • Department of Psychiatry
  • Department of Neurology
  • University of Washington
  • Department of Neurology
  • Neuroscience Center
  • Division of Neurology and Developmental Neuroscience
  • Wellcome Sanger Institute
  • Pediatrics
  • The Neuroscience Center Louisiana State University Medical School New Orleans
  • Louisiana State University
  • BCM
  • BCM
  • Texas Children's Hospital Houston

External person

Heather McLaughlin

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

External person

K. Lindstrom

  • Division of Genetics and Metabolic Phoenix Children’s Hospital
  • Phoenix Children's Hospital
  • Division of Genetics & Metabolism
  • Phoenix Children�s Hospital

External person

Patrick Devine

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

External person

Darrel J. Waggoner

  • Department of Medical Genetics
  • Washington University St. Louis
  • Edward Mallinckrodt Department of Pediatrics
  • Department of Pediatrics
  • The University of Chicago
  • Department of Pediatrics
  • Department of Human Genetics
  • Department of Human Genetics
  • Department of Human Genetics

External person

Rhonda E. Schnur

  • GeneDX Inc
  • University of Pennsylvania
  • Clinical Genetics Department
  • Rutgers - The State University of New Jersey, New Brunswick

External person

Raymond J. Louie

  • Greenwood Genetics Center

External person

Hui Guo

  • University of Washington
  • Department of Genome Sciences
  • Central South University
  • The Institute of Mental Health

External person

Fowzan S. Alkuraya

  • Alfaisal University
  • King Abdulaziz City for Science and Technology
  • Department of Genetics

External person

Sonya A. Gunter

  • Department of Neurology
  • University of Virginia

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
  • British Columbia Cancer Agency

External person

Valérie Benoit

  • Centre de Génétique Humaine
  • Institut de Pathologie et Génétique
  • Institut de Pathologie et de Génétique

External person

Jonas Denecke

  • Department of Pediatrics
  • University of Hamburg

External person

Vincenzo Salpietro

  • University College London
  • IRCCS Istituto Giannina Gaslini - Genova
  • Pediatric Neurology and Muscular Diseases Unit
  • University of Genoa

External person

Karen Stals

  • Department of Molecular Genetics
  • Royal Devon & Exeter NHS Foundation Trust

External person

Paulien A. Terhal

  • Department of Genetics
  • Utrecht University
  • Department of Medical 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 ofLondon
  • University of London

External person

Clare Puttick

  • Garvan Institute of Medical Research

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
  • University of Southern California
  • BCM
  • Texas Children's Hospital Houston
  • University of Texas Southwestern Medical Center

External person

Yuqing Chen

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

External person

B. Lanpher

  • Department of Pediatrics
  • Vanderbilt University
  • Department of Pediatrics
  • George Washington University
  • Division of Genetics and Genomic Medicine
  • Mayo Clinic Rochester, MN
  • Center for Individualized Medicine
  • Department of Clinical Genomics

External person

Jonathan Dodd

  • Department of Psychology
  • Washington University St. Louis
  • Department of Neurology
  • Department of Neurology
  • Department of Neurology
  • WellStar Medical Group

External person

Julien Thevenon

  • Centre de Génétique
  • Université de Bourgogne
  • Centre de Genetique et Centre de Reference Anomalies du Developpement et Syndromes Malformatifs
  • Equipe Génétique des Anomalies du Développement
  • Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs
  • Université de Bourgogne- Franche Comté
  • Université Grenoble Alpes
  • Centre de génétique
  • UF Innovation en diagnostic genomique des maladies rares
  • Hôpital d'Enfants CHU Dijon
  • University Hospital
  • Autonomous University of Barcelona

External person

Lindsay C. Burrage

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

External person

Marilyn C. Jones

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

External person

Virgina Lee

  • University of California at San Francisco

External person

Marcel E. Dinger

  • University of New South Wales
  • Garvan Institute of Medical Research

External person

Andre E. Minoche

  • Garvan Institute of Medical Research

External person

Saima Kayani

  • University of Texas Southwestern Medical Center

External person

J. Euteneuer

  • Department of Pediatrics
  • Washington University St. Louis
  • University of Nebraska Medical Center

External person

Katharina Steindl

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

External person

Jamie L. Fraser

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

External person

Stephanie Valence

  • Service de neuropediatrie
  • Hôpital Armand Trousseau
  • Sorbonne Université
  • APHP
  • Assistance publique – Hôpitaux de Paris

External person

Sally Ann Lynch

  • Dept of Clinical Genetics
  • Temple Street Children's Hospital Dublin 1
  • University College Dublin
  • Clinical Genetics
  • National Centre for Medical Genetics
  • Our Lady’s Children’s Hospital
  • Our Lady's Hospital for Sick Children

External person

Tommy I. Stödberg

  • Karolinska Institutet
  • Neuropediatric Unit

External person

Natalie Hauser

  • Department of Medical Genetics and Metabolism
  • Children's Hospital of Central California

External person

Forbes D. Porter

  • Department of Health and Human Services
  • National Institutes of Health
  • Eunice Kennedy Shriver National Institute of Child Health and Human Development
  • Unit on Molecular Dysmorphology
  • Program in Developmental Endocrinology and Genetics
  • Division of Translational Medicine
  • Developmental Endocrinology and Genetics

External person

Suliat F. Yakubu

  • Computational Bioscience Research Center (CBRC)
  • King Abdullah University of Science and Technology

External person

Przemyslaw Szafranski

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

External person

Naomichi Matsumoto

  • Department of Human Genetics
  • Yokohama City University

External person

Fatema Al Zahrani

  • Alfaisal University
  • Department of Genetics

External person

Richard J. Schroer

  • Greenwood Genetics Center

External person

Jasmeen Merzaban

  • Computational Bioscience Research Center (CBRC)
  • King Abdullah University of Science and Technology

External person

M. Chen

  • Department of Pediatrics-Diabetes and Endocrinology
  • Baylor College of Medicine

External person

L. N. Berry

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

External person

Alicia Bach

  • Washington University St. Louis

External person

Anne Gregor

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

External person

Margaret Au

  • Cedars-Sinai Medical Center
  • Department of Pediatrics

External person

Alma Kuechler

  • University of Duisburg-Essen

External person

Chiara Klöckner

  • Leipzig University

External person

F. Lucy Raymond

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

External person

Mais O. Hashem

  • Alfaisal University
  • Department of Genetics

External person

Yaping Yang

  • National Institutes of Health
  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • Model Organism Screening Center
  • Baylor Genetics
  • Human Genome Sequencing Center
  • Baylor Genetics Laboratories
  • Baylor Genetics, LLC
  • AiLife Diagnostics

External person

N. Armstrong

  • Washington University St. Louis
  • Department of Pediatrics
  • Departments of Internal Medicine and Pediatrics

External person

I. Wen Song

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

External person

Ruth E. Bristol

  • Phoenix Children's Hospital
  • Division of Neurosurgery

External person

Suzanne M. Leal

  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • Department of Molecular andHuman Genetics
  • Center for Statistical Genetics
  • Laboratory of Statistical Genetics
  • Rockefeller University
  • Department of Molecular and Human Genetics
  • Department of Molecular andHuman Genetics
  • Department of Molecular andHuman Genetics
  • Department of Molecular andHuman Genetics
  • Department of Molecular andHuman Genetics
  • Department of Molecular andHuman Genetics
  • Department of Molecular andHuman Genetics
  • Department of Molecular andHuman Genetics
  • Department of Molecular andHuman Genetics
  • Department of Molecular andHuman Genetics
  • Department of Molecular andHuman Genetics
  • Human Genome Sequencing Center
  • Department of Neurology
  • Columbia University
  • Department of Molecular andHuman Genetics
  • Department of Molecular andHuman Genetics
  • Department of Molecular andHuman Genetics
  • Department of Molecular andHuman Genetics
  • Department of Molecular andHuman Genetics
  • Department of Molecular andHuman Genetics
  • Department of Molecular andHuman Genetics
  • Department of Molecular andHuman Genetics
  • Department of Molecular andHuman Genetics
  • Department of Molecular andHuman Genetics
  • Department of Molecular andHuman Genetics

External person

Almuth Caliebe

  • Kiel University

External person

Stephen R. Braddock

  • Department of Pediatrics
  • Saint Louis University
  • SSM Health Cardinal Glennon Children's Medical Center
  • Department of Pediatrics

External person

Eric W. Klee

  • Center for Individualized Medicine
  • Mayo Clinic Rochester, MN
  • Department of Clinical Genomics
  • Department of Health Sciences Research

External person

Brad Angle

  • Department of Pediatrics
  • Northwestern University
  • Advocate Health Care

External person

Katelyn Payne

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

External person

V. Hannig

  • Vanderbilt University
  • Department of Pediatrics

External person

Anne Slavotinek

  • University of California at San Francisco
  • Department of Pediatrics

External person

Gaëtan Lesca

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

External person

Rani K. Sachdev

  • Sydney Children's Hospital
  • Sydney Children's Hospital
  • University of New South Wales

External person

Rebecca Macintosh

  • Sydney Children's Hospital

External person

Fajr A. Aleisa

  • Computational Bioscience Research Center (CBRC)
  • King Abdullah University of Science and Technology

External person

Katherine L. Helbig

  • Division of Clinical Genomics
  • Ambry Genetics
  • Division of Clinical Genomics
  • University of Pennsylvania
  • Division of Neurology
  • Ambry Genetics
  • Division of Clinical Genomics

External person

Chun Song Yang

  • Center for Cell Signaling
  • University of Virginia

External person

Jennifer A. Sullivan

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

External person

Daniel J. Parente

  • Department of Family Medicine
  • University of Kansas

External person

J. Ge

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

External person

Rui Xiao

  • Baylor College of Medicine
  • Baylor Genetics
  • Department of Molecular and Human Genetics
  • Baylor Genetics, LLC
  • University of California at San Diego

External person

Lisa Kratz

  • Department of Neurogenetics
  • Kennedy Krieger Institute
  • Biochemical Genetics Laboratory
  • Department of Pediatrics
  • Johns Hopkins University

External person

Stephanie Efthymiou

  • Department of Clinical and Experimental Epilepsy
  • University College London
  • St. George's University of London

External person

Gordana Raca

  • Section of Hematology/Oncology
  • The University of Chicago
  • University of Southern California
  • Department of Medicine Section of Hematology/Oncology

External person

Mariusz Jaremko

  • Computational Bioscience Research Center (CBRC)
  • King Abdullah University of Science and Technology

External person

Mark J. Cowley

  • University of New South Wales
  • Garvan Institute of Medical Research

External person

Andreea Manole

  • University College London

External person

Anita Rauch

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

External person

Richard H. van Jaarsveld

  • Utrecht University

External person

Saskia N. van der Crabben

  • University of Amsterdam

External person

Ana Cristina Puga

  • Genzyme Europe BV
  • Universidade Federal do Rio Grande do Sul

External person

Kirk L. Pappan

  • Washington University St. Louis
  • Department of Immunology and Pathology
  • Neuropathology Division
  • Department of Pathology and Immunology
  • Department of Pathology and Immunology
  • Metabolon
  • Department of Pathology
  • Department of Pathology and Immunology

External person

I. Desguerre

  • Department of Pediatric Neurology
  • Université Paris 5
  • Service de Neurologie Pédiatrique
  • Imagine Institute
  • Hôpital Saint Vincent de Paul
  • Université Paris Cité
  • Paris-Descartes Sorbonne Paris-Cité University

External person

Jeffrey W. Innis

  • Departments of Human Genetics and Pediatrics
  • University of Michigan, Ann Arbor

External person

Sixto Garcia-Miñaúr

  • Universidad Autónoma de Madrid
  • CIBER - Center for Biomedical Research Network

External person

Łukasz Jaremko

  • Computational Bioscience Research Center (CBRC)
  • King Abdullah University of Science and Technology

External person

Ronit Marom

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

External person

Diego Martinelli

  • IRCCS Ospedale pediatrico Bambino Gesù - Roma

External person

Kwame Anyane-Yeboa

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

External person

Julian Sampson

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

External person

D. Guffey

  • Institute for Clinical and Translational Research
  • Baylor College of Medicine

External person

Dewi P. Bakker

  • University of Amsterdam
  • Academic Medical Center (AMC)

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

Amy McTague

  • University College London

External person

Francisco Martinez

  • Hospital Universitario La Fe

External person

Timothy Moss

  • Cleveland Clinic Foundation
  • Department of Molecular and Human Genetics
  • Baylor College of Medicine
  • Department of Molecular and Human Genetics

External person

Victoria R. Sanders

  • Division of Hematology
  • Children's Memorial Hospital
  • Department of Pediatrics
  • Northwestern University

External person

Julia Rankin

  • Department of Clinical Genetics
  • Royal Devon & Exeter NHS Foundation Trust

External person

Mohamad A. Mikati

  • Duke University
  • Harvard University
  • Medical College of Wisconsin

External person

Dalia Ghoneim

  • Center for Neural Development and Disease
  • University of Rochester

External person

Isabel Filges

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

External person

A. M. Vianna-Morgante

  • Department of Genetics and Evolutionary Biology
  • Universidade de São Paulo

External person

Robert J. Hopkin

  • Department of Pediatrics
  • University of Cincinnati
  • Cincinnati Children's Hospital Medical Center
  • Cincinnati Children's Hospital
  • Division of Human Genetics
  • The Lipid Research Clinic
  • Division of Human Genetics
  • Division of Developmental Biology

External person

Matthew A. Lines

  • University of Ottawa
  • University of Ottawa
  • Department of Genetics
  • Department of Pediatrics
  • University of Calgary
  • Alberta Children's Hospital

External person

Jessica Van Ziffle

  • University of California at San Francisco

External person

Adam D. Kennedy

  • Metabolon
  • Baebies, Inc

External person

William B. Dobyns

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

External person

Amelia Kirby

  • SSM Health Cardinal Glennon Children's Medical Center
  • Saint Louis University

External person

Philippe M. Campeau

  • Department of Molecular and Human Genetics
  • Baylor College of Medicine
  • Department of Pediatrics
  • University of Montreal
  • Sainte-Justine Hospital
  • Department of Molecular and Human Genetics

External person

David Hunt

  • Princess Anne Hospital
  • University Hospital Southampton NHS Foundation Trust
  • University of Southampton

External person

Magdalena Walkiewicz

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

External person

M. A. Ali

  • 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
  • Texas Children's Hospital Houston

External person

Laurie Sprietsma

  • Division of Laboratory and Genomic medicine
  • Washington University St. Louis
  • Department of Pediatrics
  • Division of Hematology
  • Children's Memorial Hospital
  • Department of Pediatrics
  • Division of Genetics and Genomic Medicine

External person

James W. Wheless

  • Division of Pediatric Neurology
  • University of Tennessee Health Science Center
  • LeBoneur Children’s Hospital
  • LeBonheur Children's Hospital
  • University of Tennessee System

External person

I. Kepten

  • Department of Pediatrics
  • Technion-Israel Institute of Technology
  • Department of Human Genetics

External person

Ann Bye

  • Sydney Children's Hospital
  • Sydney Children's Hospital
  • University of New South Wales

External person

Angeles Schteinschnaider

  • Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia

External person

Tim M. Strom

  • Helmholtz Zentrum München - German Research Center for Environmental Health
  • Institute of Human Genetics
  • Institute of Human Genetics
  • Technical University of Munich
  • Institute of Human Genetics

External person

Joanna Wiszniewska

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

External person

Manju A. Kurian

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

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

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

Emily Tuttle

  • Center for Neural Development and Disease
  • University of Rochester

External person

C. G. Minard

  • Institute for Clinical and Translational Research
  • Baylor College of Medicine

External person

Marie T. McDonald

  • Duke University

External person

Davor Lessel

  • University of Hamburg
  • Ulm University

External person

Tracy Brandt

  • GeneDX Inc

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

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

Adam Spencer

  • Center for Cell Signaling
  • University of Virginia

External person

Christine Weaver

  • Carle Clinic
  • University of Illinois at Chicago

External person

Ann S. Martin

  • Carolinas Medical Center

External person

Francesca Sperotto

  • University of Padua

External person

April Rahrig

  • Department of Pediatrics
  • Advocate Children's Hospital

External person

Majdi Kara

  • University of Tripoli
  • Tripoli Children's Hospital

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

External person

Enrico Grosso

  • University of Turin
  • Department of Medical Sciences

External person

Bertrand Isidor

  • Department of Medical Genetics
  • Université de Nantes
  • Service de Génétique Médicale
  • Clinical Genetics Unit
  • CHU de Nantes
  • Nantes University Hospital
  • INSERM UMR-S 957

External person

Caroline Maxton

  • Praxis für Kinderneurologie

External person

Stuart A. Scott

  • Stanford University

External person

Francis Ramond

  • Service de Génétique
  • Hôpital Nord, CHU de Saint-Étienne

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

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

External person

Yuri Uchiyama

  • Yokohama City University

External person

Haiyan Li

  • University of California at San Francisco

External person

Thomas Smol

  • CHU Lille
  • Université de Lille
  • CHU Lille

External person

Eva Lena Stattin

  • Department of Immunology
  • Uppsala University

External person

Lorne Clarke

  • University of British Columbia

External person

Marta Pacio-Miguez

  • Universidad Autónoma de Madrid
  • Leipzig University

External person

Markus Wolff

  • Department of Neuropediatrics
  • University of Tübingen
  • Department of Pediatric Neurology and Developmental Medicine

External person

Jessica Douglas

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

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

External person

Kristin Wigby

  • Rady Children’s Institute for Genomic Medicine
  • University of California at San Diego

External person

Carmen Orellana

  • Unidad de Genética
  • University of Valencia
  • Unidad de Genética
  • Hospital Universitario La Fe

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

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

Leonie Kuhlmann

  • Institute of Immunology
  • Hannover Medical School

External person

Jessica Duis

  • Department of Pediatrics
  • Johns Hopkins University

External person

Hartmut Baier

  • Sinova Kliniken ZfP Südwürttemberg

External person

M. Zweier

  • University of Zurich
  • Institute of Medical Genetics
  • University of Zurich

External person

Barbara Merfort Ferreira

  • Universidade de Brasília

External person

Kyle Retterer

  • GeneDX Inc

External person

Elaine Lyon

  • HudsonAlpha Institute for Biotechnology

External person

Yuezhen Lin

  • Pediatric Endocrinology and Metabolism
  • Baylor College of Medicine

External person

Chongsheng He

  • Department of Cell and Developmental Biology
  • University of Pennsylvania
  • Hunan University

External person

Margaret A. Ferris

  • Department of Pediatrics

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

Rocio Acuna-Hidalgo

  • Department of Human Genetics
  • Radboud University Nijmegen

External person

Anna Cereda

  • Papa Giovanni XXIII Hospital

External person

Katherine W. Roche

  • National Institutes of Health

External person

Mohammad K. Eldomery

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

External person

Radhika Dhamija

  • Department of Pediatrics (Division of Genetics and Metabolism)
  • Department of Neurology
  • University of Virginia
  • Mayo Clinic Scottsdale, AZ

External person

Roxanne L. Simmons

  • University of California at San Francisco

External person

David R. FitzPatrick

  • University of Edinburgh
  • Wellcome Trust

External person

Patricia Hernandez

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

External person

Sanam J. Lalani

  • University of California at San Francisco

External person

Joseph D. Symonds

  • Royal Hospital for Sick Children Glasgow
  • NHS Greater Glasgow and Clyde

External person

Bin Zhang

  • Department of Pathology and Immunology
  • Washington University St. Louis
  • University of Rochester

External person

Sawona Biswas

  • University of Pennsylvania
  • University of California at San Francisco

External person

Alexander Hoischen

  • Center for Medical Genetics and Molecular Medicine
  • Department of Human Genetics
  • University of Bergen
  • Radboud University Nijmegen
  • Department of Human Genetics
  • National Institutes of Health
  • Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI)

External person

Lise Larcher

  • AP-HP
  • Sorbonne Université
  • Assistance publique – Hôpitaux de Paris

External person

Myriam Oufadem

  • Université Paris Cité
  • Imagine Institute
  • Paris-Descartes Sorbonne Paris-Cité University

External person

Julie Fleischer

  • Southern Illinois University
  • Department of Pediatrics
  • Washington University St. Louis
  • Department of Pediatrics

External person

Velibor Tasic

  • Clinic for Children's Diseases Skopje
  • Clinic for Children's Diseases

External person

Alejandro F. Siller

  • Shriners Hospitals for Children
  • Washington University St. Louis
  • Department of Pediatrics
  • Washington University Faculty of Medicine
  • Department of Pediatrics
  • Department of Pediatrics
  • University of Washington
  • Washington university

External person

Caroline Astbury

  • Cleveland Clinic Foundation

External person

Susan Lansky-Shafer

  • Carle Clinic
  • University of Illinois at Chicago

External person

Stavit A. Shalev

  • Genetic Institute
  • Technion-Israel Institute of Technology
  • Emek Medical Center

External person

Renaud Touraine

  • Service de Génétique
  • Hôpital Nord, CHU de Saint-Étienne
  • University of Washington

External person

Gaetano Cantalupo

  • Department of Life and Reproduction Sciences
  • University of Verona

External person

Renee Alpern

  • Vet. Aff. Coop. Studs. Prog. C. C.
  • Roosevelt University Chicago
  • Department of Mathematics and Actuarial Science
  • Cooperative Studies Program Coordinating Center
  • Department of Veterans Affairs
  • Department of Preventive Medicine and Biometrics
  • University of Colorado Denver
  • Roosevelt University
  • University of Colorado Anschutz Medical Campus

External person

Brenna A. Tremp

  • University of Oregon

External person

Jadranka Popovic

  • University of Pittsburgh
  • Department of Pediatrics

External person

Ahmed Fatmi

  • CNRS
  • Aix-Marseille Université
  • University of Mediterranee

External person

Margje Sinnema

  • Maastricht University

External person

Laureane Mittaz-Crettol

  • Division of Genetic Medicine
  • University of Lausanne

External person

S. Ben-Shachar

  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Schneider Childrens Medical Center Israel

External person

John Mann

  • Department of Genetics
  • Kaiser Permanente

External person

Aravindhan Veerapandiyan

  • University of Arkansas for Medical Sciences

External person

Sandra Yang

  • GeneDX Inc

External person

Eva Rudd

  • Clinical Genetics Unit
  • Karolinska Institutet

External person

Kristin D'Aco

  • Department of Pediatrics
  • University of Rochester

External person

John Cleary

  • University of California at Irvine

External person

Evan H. Baugh

  • Columbia University

External person

Kirsten Donato

  • The University of Chicago
  • Department of Human Genetics

External person

William Van Der Merwe

  • Department of Paediatrics
  • Nobles Hospital
  • Nobles Hospital

External person

Monica Lodi

  • Pediatric Neurology Unit
  • Fatebenefratelli Hospital

External person

Samantha Toy

  • Washington University St. Louis

External person

Luciana Montenegro

  • Universidade de São Paulo

External person

Jim Connelly

  • Department of Pediatrics
  • University of Michigan, Ann Arbor
  • Vanderbilt University
  • Department of Pediatrics
  • Departments of Pediatrics

External person

Mattia Bosio

  • Centre for Genomic Regulation (CRG)
  • Pompeu Fabra University
  • The Barcelona Institute of Science and Technology
  • Barcelona Supercomputing Center

External person

Audrey Cortesi

  • University of California at San Francisco

External person

Kristian Tveten

  • Department of Medical Genetics
  • Sykehuset Telemark

External person

Alistair D. Calder

  • University College London

External person

Aarno Palotie

  • Center for Basic and Translational Obesity Research and Divisions of Endocrinology and Genetics
  • Harvard University
  • Institute for Molecular Medicine Finland (FIMM)
  • University of Helsinki
  • Wellcome Trust
  • Department of Psychiatry
  • Analytic and Translational Genetics Unit
  • Program in Medical and Population Genetics
  • Broad Institute
  • Institute for Molecular Medicine Finland
  • Wellcome Sanger Institute
  • Department of Medical Genetics
  • Massachusetts Institute of Technology
  • Department of Clinical Chemistry
  • Research Program in Molecular Medicine
  • Folkhalsan
  • Department of Medical Genetics
  • Human Genetics
  • Psychiatric and Neurodevelopmental Genetics Unit
  • Department of Medical Genetics
  • Genetic Epidemiology Group
  • Folkhalsan Institute of Genetics
  • National Institute for Health and Welfare
  • Department of Molecular Medicine
  • Department of Epidemiology
  • Stanley Center for Psychiatric Research
  • FIMM
  • Institute for Molecular Medicine Finland
  • Center for Human Genetic Research
  • Sant'Andrea Hospital
  • Centre for Experimental Neurological Therapies, S. Andrea Hospital-site
  • Medical and Population Genetics Program
  • Analytic and Translational Genetics Unit
  • Department of Neurology
  • Department of Neurology
  • Department of Epidemiology
  • FIMM
  • Institute for Molecular Medicine Finland
  • Program in Translational NeuroPsychiatric Genomics
  • Division of Hematology/Oncology
  • Ann Romney Center for Neurologic Diseases
  • Center for Genomic Medicine and Cardiovascular Research Center
  • Laboratory of Molecular and Developmental Neuroscience
  • Program in Medical and Population Genetics
  • Cardiovascular Research Center
  • Department of Neurology
  • Department of Biological Sciences
  • University of Southern California
  • The Stanley Center for Psychiatric Research and Program in Medical and Population Genetics
  • National Institutes of Health
  • Department of Surgery
  • University of Bristol

External person

Magnus D. Vigeland

  • University of Oslo

External person

Megan R. Glassford

  • University of Michigan, Ann Arbor

External person

Jasmin Beygo

  • University of Duisburg-Essen

External person

Harry Pachajoa

  • Centro de Investigaciones en Anomaliás Congénitas y Enfermedades Raras (CIACER)
  • Department of Genetics
  • Universidad ICESI
  • Fundación Valle del Lili

External person

Xiaoyi Gao

  • Washington University St. Louis

External person

Joseph M. Sliepka

  • Baylor College of Medicine

External person

Arjan P.M. de Brouwer

  • Radboud University Nijmegen

External person

Claudine Rieubland

  • University of Bern
  • Division of Human Genetics

External person

Sangeetha Mahadevan

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

External person

Georgianne L. Arnold

  • Department of Pediatrics
  • University of Pittsburgh
  • Department of Pediatrics
  • University of Rochester

External person

Jim McGill

  • Children’s Health Queensland

External person

Paolo Zanoni

  • Division of Gastroenterology
  • University of Pennsylvania
  • Departments of Genetics and Medicine
  • University of Zurich
  • University of Zurich

External person

B. Moghaddam

  • Division of Genetics
  • University of California at Davis
  • H. A. Chapman Institute
  • OK University Schusterman Center

External person

Ping Yang

  • Washington University St. Louis
  • Edward Mallinckrodt Department of Pediatrics
  • Edward Mallinckrodt Departments of Pediatrics and Pharmacology
  • Edward Mallinckrodt Department of Pediatrics

External person

Ghada A. Otaify

  • Department of Clinical Genetics
  • Center for Metabolic Bone Disease and Molecular Research
  • Shriners Hospitals for Children
  • Washington University St. Louis
  • National Research Center

External person

Florence Fellmann

  • Service de Génétique Médicale
  • University of Lausanne
  • Service of Medical Genetics

External person

Eva Trevisson

  • University of Padua

External person

Penelope E. Bonnen

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

External person

S. C. Sreenath Nagamani

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

External person

Marlies J.E. Kempers

  • Institute for Genetic and Metabolic Disorders
  • Department of Human Genetics
  • Radboud University Nijmegen

External person

Michele Yang

  • Neurogenetics Program
  • Departments of Pediatrics
  • University of California at Los Angeles
  • University of Colorado Denver
  • Departments of Pediatrics
  • The Pediatric Neuromuscular Clinical Research Network
  • Department of Pediatrics
  • The Children's Hospital, Aurora
  • Children's Hospital Denver
  • Department of Pediatrics
  • University of Colorado Anschutz Medical Campus

External person

Fan Zhang

  • Center for Metabolic Bone Disease and Molecular Research
  • Shriners Hospitals for Children
  • Center for Metabolic Bone Disease and Molecular Research
  • Shriners Hospital for Children
  • Shriners Hospital for Children
  • Center for Metabolic Bone Disease and Molecular Research
  • Saint Louis University
  • Department of Internal Medicine
  • Division of Rheumatology

External person

Bradley P. Coe

  • Department of Genome Sciences
  • University of Washington
  • Department of Genome Sciences
  • Autism Center
  • University of British Columbia

External person

Xavier Caubit

  • CNRS
  • Aix-Marseille Université
  • University of Mediterranee

External person

Christopher S. Francklyn

  • University of Vermont

External person

Bruno Maranda

  • Médecin Généticien
  • Université de Sherbrooke

External person

Sha Tang

  • Division of Clinical Genomics
  • Ambry Genetics
  • Division of Clinical Genomics
  • Department of Clinical Genomics
  • Ambry Genetics
  • Division of Clinical Genomics
  • Department of Clinical Genomics

External person

Charles Conlon

  • Kennedy Krieger Institute

External person

Sylvia A. Huisman

  • Prinsenstichting
  • University of Amsterdam

External person

Anita Inwood

  • Department of Metabolic Medicine
  • Lady Cilento Children's Hospital
  • Children’s Health Queensland

External person

Immo Prinz

  • Institute of Immunology
  • Hannover Medical School

External person

Andrew Parrish

  • Department of Molecular Genetics
  • Royal Devon & Exeter NHS Foundation Trust

External person

Maurizio Viri

  • Pediatric Neurology Unit
  • Fatebenefratelli Hospital

External person

Jun Chen

  • Department of Orthopedic Surgery
  • Peking Union Medical College
  • Chinese Academy of Medical Sciences

External person

Victoria M. Pratt

  • Indiana University Bloomington

External person

Zhihong Wu

  • Peking Union Medical College

External person

Tracy A. Briggs

  • Leeds Institute of Molecular Medicine
  • University of Leeds
  • University of Manchester
  • The Christie NHS Foundation Trust
  • Division of Neuroscience and Experimental Psychology
  • Manchester Centre for Genomic Medicine
  • Manchester University NHS Foundation Trust
  • Division of Neuroscience and Experimental Psychology
  • Health Innovation Manchester

External person

J. Wang

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

External person

Lynette G. Sadleir

  • Department of Paediatrics and Child Health
  • University of Otago

External person

Sandra Whalen

  • Unité Fonctionnelle de génétique clinique
  • Hôpital Armand Trousseau
  • Sorbonne Université
  • Assistance publique – Hôpitaux de Paris

External person

David Chitayat

  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Pediatrics
  • Yeshiva University
  • University of Pennsylvania
  • St. Joseph's Hospital and Medical Center
  • Department of Pediatrics
  • Harvard University
  • University of British Columbia
  • Department of Obstetrics and Gynecology
  • Prenatal Diagnosis and Medical Genetics Program
  • University of Toronto
  • Division of Clinical and Metabolic Genetics

External person

Reza Asadollahi

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

External person

Anna Lehman

  • University of British Columbia

External person

Justyna A. Karolak

  • Department of Genetics and Pharmaceutical Microbiology
  • University of Medical Sciences Poznan
  • Baylor College of Medicine
  • Department of Molecular and Human Genetics

External person

Michelle O'Laughlin

  • Genome Center
  • Washington University St. Louis
  • McDonnell Genome Institute
  • McDonnell Genome Institute
  • The Genome Institute
  • Genome Center
  • Cardiovascular Health Research Unit
  • University of Washington
  • Genome Institute
  • Computer Science Department
  • Brown University
  • McDonnell Genome Institute
  • Genome Sequencing Center
  • Division of Oncology
  • Department of Medicine

External person

Aruna Asipu

  • Leeds Institute of Molecular Medicine
  • University of Leeds

External person

Tabib Dabir

  • Belfast Health and Social Care Trust
  • City Hospital

External person

Francesca Mattioli

  • Université de Strasbourg

External person

Daniel E. Pineda-Alvarez

  • Now at Invitae
  • GeneDX Inc
  • Medical Genetics Branch

External person

Tanja Meerbrei

  • Friedrich-Alexander University Erlangen-Nürnberg

External person

Heinrich Stephan Herding

  • Praxis für Kinde und Jugendmedizin

External person

F. M. Vaz

  • Laboratory Genetic Metabolic Diseases
  • University of Amsterdam
  • Departments of Clinical Chemistry and Pediatrics
  • Laboratory of Genetic Metabolic Diseases

External person

Diane S. Dannenfeldt

  • Cooperative Studies Program Coordinating Center
  • Department of Veterans Affairs

External person

Ginevra Zanni

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

External person

Hannah Stamberger

  • Laboratory of Neurogenetics
  • Neurogenetics Group
  • Flanders Institute for Biotechnology
  • Department of Neurology
  • University of Antwerp

External person

Jerome L. Gorski

  • Departments of Child Health and Pathology and Anatomical Sciences
  • University of Missouri
  • Division of Medical Genetics
  • Division of Cardiology
  • University of Michigan, Ann Arbor
  • Department of Child Health
  • Department of Child Health
  • Department of Child Health
  • Department of Pathology & Anatomical Sciences

External person