• 411
    Citations
20042023

Research activity per year

Network

Erin Beaver

  • Mercy Kids Genetics
  • Mercy Hospital
  • Washington University St. Louis
  • Mercy Clinic-Kids Genetics
  • Mercy Kids Genetics

External person

Paul F. Austin

  • Department of Surgery
  • Washington University St. Louis
  • Division of Urologic Surgery
  • Division of Urology
  • Division of Urologic Surgery
  • Pediatric Urology
  • Department of Surgery
  • Department of Urology
  • Section of Transplantation
  • Scott Department of Urology
  • Baylor College of Medicine
  • Division of Pediatric Urology
  • Division of Urology
  • Departments of Surgery (Urology) and Radiology
  • Pediatric Urology
  • Division of Pediatric Urology
  • Pediatric Urology
  • Division of Urologic Surgery
  • Division of Gynecologic Oncology
  • Division of Urologic Surgery
  • Texas Children's Hospital
  • Texas Children's Hospital Houston

External person

Jane Juusola

  • GeneDX Inc
  • OPKO Health, Inc.

External person

Julie Hoover-Fong

  • Greenberg Center for Skeletal Dysplasias
  • McKusick-Nathans Institute of Genetic Medicine
  • Department of Pediatrics
  • Johns Hopkins University
  • Department of Pediatrics
  • McKusick Nathans Institute of Genetic Medicine
  • Greenberg Center for Skeletal Dysplasias

External person

Francis Ramond

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

External person

Lorne Clarke

  • University of British Columbia

External person

Barbara Merfort Ferreira

  • Universidade de Brasília

External person

Kyle Retterer

  • GeneDX Inc
  • OPKO Health, Inc.

External person

Volkan Okur

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

External person

Rocio Acuna-Hidalgo

  • Department of Human Genetics
  • Radboud University Nijmegen

External person

Jonathan Humbert

  • Université Laval

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

Renaud Touraine

  • Service de Génétique
  • Hôpital Nord, CHU de Saint-Étienne
  • University of Washington
  • Seattle Children's Hospital

External person

Annette C. Smith

  • University of Washington
  • National Institutes of Health
  • Pacific Data Designs

External person

Andrew Parrish

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

External person

Sian Ellard

  • Department of Molecular Genetics
  • Institute of Biomedical and Clinical Science
  • University of Exeter
  • Royal Devon & Exeter NHS Foundation Trust

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

Bregje Van Bon

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

External person

Keri Ramsey

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

External person

Sarah Neil

  • University of British Columbia

External person

Shuxi Liu

  • GeneDX Inc
  • OPKO Health, Inc.

External person

Julie Scuffins

  • GeneDX Inc
  • OPKO Health, Inc.

External person

Smrithi Salian

  • University of Montreal

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

Andrew S. Hagan

  • Department of Developmental Biology
  • Washington University St. Louis
  • Division of Biology and Biomedical Sciences
  • Novartis Biomedical Research

External person

S. M. Price

  • Department of Clinical Genetics
  • Oxford University Hospitals NHS Foundation Trust
  • Berkshire Healthcare NHS. Foundation Trust
  • Oxford Centre for Genomic Medicine
  • National Institutes of Health

External person

Daniah Albokhari

  • Taibah University
  • Johns Hopkins University

External person

Shalini Jhangiani

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

External person

James R. Lupski

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

External person

Zeynep H. Coban Akdemir

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

External person

Seth I. Berger

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

External person

Melissa Zuteck

  • Spectrum Health

External person

Mehmet B. Duz

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

External person

Gabrielle Lemire

  • University of Montreal

External person

Colleen M. Carlston

  • Department of Pathology
  • University of Utah

External person

Marisa Vineyard

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

External person

J. C. Carey

  • Washington University St. Louis
  • Department of Pediatrics
  • Shriners Hospitals for Children
  • University of Utah
  • Division of Neonatology

External person

Bethany Friedman

  • GeneDX Inc
  • OPKO Health, Inc.

External person

Livija Medne

  • Department of Neurology
  • University of Pennsylvania
  • Division of Neurology
  • Division of Neurology
  • Department of Pediatrics
  • The Children's Hospital of Philadelphia

External person

Kara L. Levine

  • GeneDX Inc
  • OPKO Health, Inc.

External person

Rebecca I. Torene

  • GeneDX Inc
  • OPKO Health, Inc.

External person

Adelyn Beil

  • University of Michigan, Ann Arbor

External person

Maria J.Guillen Sacoto

  • GeneDX Inc
  • OPKO Health, Inc.

External person

Kirsten E. Craddock

  • Columbia University

External person

Erica H. Gerkes

  • University of Groningen
  • Department of Genetics

External person

Karin M. Dent

  • Division of Neonatology
  • University of Utah

External person

Thomas Garcia

  • Department of Pediatrics
  • University of Montreal

External person

Ian D. Krantz

  • Department of Pediatrics and Division of Human Genetics
  • University of Pennsylvania
  • Division of Human and Molecular Genetics
  • Department of Pediatrics
  • The Children's Hospital of Philadelphia

External person

Carlo L. Marcelis

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

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

Kevin Galens

  • University of Maryland, Baltimore
  • Department of Microbiology and Immunology
  • GeneDX Inc
  • OPKO Health, Inc.

External person

Karen Stals

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

External person

Ebru Marzioglu-Ozdemir

  • Erzurum Regional and Training Hospital

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
  • CHU de Grenoble
  • Autonomous University of Barcelona
  • Neurology Service

External person

Jagdeep Walia

  • Queen's University Kingston
  • Kingston Health Sciences Centre

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

H. G. Brunner

  • Department of Human Genetics
  • Radboud University Nijmegen
  • Department of Clinical Genetics and School for Oncology & Developmental Biology
  • Maastricht University
  • Donders Institute for Brain
  • Department of Human Genetics
  • Department of Clinical Genetics
  • Donders Institute for Brain

External person

Elizabeth L. Schlichting

  • Department of Obstetrics
  • Washington University St. Louis

External person

Rami Alasiri

  • McGill University

External person

Periklis Makrythanasis

  • Service of Genetic Medicine
  • Department of Genetic Medicine and Development
  • University of Geneva
  • Academy of Athens

External person

Dmitriy Niyazov

  • Ochsner Health System
  • Louisiana State University Health Sciences Center

External person

Candace Muss

  • Alfred I. duPont Hospital for Children

External person

Lindsay Henderson

  • GeneDX Inc
  • OPKO Health, Inc.

External person

Pinar Bayrak-Toydemir

  • Department of Pathology
  • University of Utah

External person

Amanda H. Wyman

  • Washington University St. Louis
  • Division of Gynecologic Oncology
  • Department of Obstetrics and Gynecology
  • Division of Gynecologic Oncology
  • Department of Obstetrics
  • Department of Obstetrics and Gynecology

External person

Meron Azage

  • Louisiana State University Health Sciences Center
  • Ochsner Health System

External person

Wei Shen

  • Department of Pathology
  • University of Utah

External person

Kevin Arvai

  • GeneDX Inc
  • OPKO Health, Inc.

External person

Atilla Cayir

  • Erzurum Training and Research Hospital
  • Department of Pediatric Endocrinology

External person

Ingrid M. Wentzensen

  • GeneDX Inc
  • OPKO Health, Inc.

External person

Genay O. Pilarowski

  • McKusick Nathans Institute of Genetic Medicine
  • Predoctoral Training Program in Human Genetics
  • Johns Hopkins University

External person

Sophie Ehresmann

  • Department of Pediatrics
  • University of Montreal

External person

Juliana F. Mazzeu

  • Robinow Syndrome Foundation
  • Universidade de Brasília

External person

Caleb P. Bupp

  • Spectrum Health

External person

Zhancheng Zhang

  • Institute for Genome Sciences and Policy
  • Duke University
  • GeneDX Inc
  • University of North Carolina at Chapel Hill
  • OPKO Health, Inc.

External person

Janson J. White

  • Baylor College of Medicine

External person

Xiang Jiao Yang

  • McGill University

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
  • Mayo Clinic Rochester, MN
  • Ontario Institute for Cancer Research
  • Texas Children s Feigin Center

External person

Marie Noelle Bonnet Dupeyron

  • Genetic Consultations

External person

Leandros Boukas

  • McKusick Nathans Institute of Genetic Medicine
  • Predoctoral Training Program in Human Genetics
  • Johns Hopkins University

External person

Megan T. Cho

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

External person

Elif Yilmaz Gulec

  • Department of Medical Genetics
  • Kanuni Sultan Suleyman Training and Research Hospital

External person

Yavuz Bayram

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

External person

Timothy Blake Palculict

  • OPKO Health, Inc.

External person

Josue Flores-Daboub

  • Department of Pediatric Genetics
  • University of Utah

External person

Joel F. Koenig

  • Washington University St. Louis
  • Children's Mercy Hospitals and Clinics

External person

Elise Fiala

  • Department of Pediatrics
  • Washington University St. Louis

External person

Armand Bottani

  • University of Geneva
  • Service of Genetic Medicine

External person

Stylianos E. Antonarakis

  • Department of Genetic Medicine and Development
  • University of Geneva
  • Division of Medical Genetics
  • Service of Genetic Medicine
  • Department of Medical Genetics
  • Keio University
  • iGE3 Institute of Genetics and Genomics of Geneva
  • Medigenome
  • Medigenome
  • Municipal Institute for Medical Research Hospital del Mar

External person

J. A. Rousseau

  • Division of Genetics
  • University of California at Davis
  • Department of Pediatrics
  • University of Montreal

External person

Carolyn D. Applegate

  • McKusick Nathans Institute of Genetic Medicine
  • Johns Hopkins University

External person

A. M. Vianna-Morgante

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

External person

Ganka Douglas

  • GeneDX Inc
  • OPKO Health, Inc.

External person

Danna Hull

  • Kingston Health Sciences Centre

External person

Halil Gurhan Karabulut

  • Department of Medical Genetics
  • Ankara 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

Ceren D. Durmaz

  • Department of Medical Genetics
  • Ankara University

External person

Alper Gezdirici

  • Department of Medical Genetics
  • Kanuni Sultan Suleyman Training and Research Hospital
  • Başakşehir Çam and Sakura City Hospital

External person

Hilary Vernon

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

External person

Sarah M. Brown

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

External person

Hana Sroka

  • GeneDX Inc
  • OPKO Health, Inc.

External person

Berivan Baskin

  • GeneDX Inc
  • Uppsala University
  • Department of Immunology
  • Department of Clinical Genetics
  • Division of Haematology/Oncology
  • University of Toronto
  • OPKO Health, Inc.

External person

Paul Kuentz

  • Université de Franche-Comté
  • Université de Bourgogne- Franche Comté
  • INSERM U1231 'Lipides Nutrition Cancer'

External person

Gregory D. Bowman

  • Department of Biology
  • T.C Jenkins Department of Biophysics
  • Johns Hopkins University

External person

Vishwanathan Hucthagowder

  • Department of Pathology and Immunology
  • Washington University St. Louis
  • Department of Pathology and Immunology
  • Inc.
  • Department of Pediatrics

External person

Vahid Bahrambeigi

  • Baylor College of Medicine
  • University of Texas MD Anderson Cancer Center
  • Graduate Program in Diagnostic Genetics
  • Department of Molecular and Human Genetics

External person

Sylviane Hanquinet

  • University of Geneva

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

Michelle M. Morrow

  • GeneDX Inc
  • OPKO Health, Inc.

External person

Victoria Wesevich

  • Washington University St. Louis
  • Department of Neurology
  • Department of Obstetrics and Gynecology
  • Department of Obstetrics and Gynecology

External person

Geoffroy Delplancq

  • Université de Franche-Comté

External person

Jacques Cote

  • Université Laval
  • Laval University Cancer Research Center

External person

Paul J. Benke

  • Florida Atlantic School of Medicine
  • Memorial Regional Hospital
  • Joe DiMaggio Children’s Hospital

External person

Emily Fassi

  • Department of Pediatrics
  • Washington University St. Louis

External person

Isabelle Nievera

  • Washington University St. Louis

External person

Amanda Barone Pritchard

  • University of Michigan, Ann Arbor

External person

Carlos Borroto

  • GeneDX Inc
  • OPKO Health, Inc.

External person

Ashley Wilson

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

External person

Hans T. Bjornsson

  • University of Iceland
  • McKusick Nathans Institute of Genetic Medicine
  • Faculty of Medicine
  • Department of Pediatrics
  • Johns Hopkins University
  • Landspitali University Hospital

External person

Laurence Faivre

  • Université de Bourgogne
  • Centre de Génétique
  • Centre Georges-François Leclerc
  • Children's Hospital
  • Center for Genetics
  • Equipe Génétique des Anomalies du Développement
  • Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs
  • Université de Bourgogne- Franche Comté
  • Institut national de la santé et de la recherche médicale
  • Centre de Reference maladies rares « Anomalies du Developpement et syndrome malformatifs » de l’Est
  • Reference Center for Developmental Anomalies
  • Centre de Genetique et Centre de Reference Anomalies du Developpement et Syndromes Malformatifs
  • Centre de Reference maladies rares « Anomalies du Developpement et syndrome malformatifs » de l’Est
  • INSERM U1231 'Lipides Nutrition Cancer'
  • Hôpital d'Enfants CHU Dijon
  • Functional Unit for Diagnostic Innovation in Rare Diseases

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

Willy M. Nillesen

  • Department of Human Genetics
  • Radboud University Nijmegen

External person

Mehmet Seven

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

External person