• 392
    Citations
20132024

Research activity per year

Network

M. Corliss

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

External person

Michael J. Evenson

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

External person

Nicole L. Hoppman

  • Cytogenetics Laboratory
  • Mayo Clinic Rochester, MN

External person

Stanislava Chtarbanova

  • University of Wisconsin-Madison
  • Laboratory of Genetics

External person

P. Hernandez

  • Hospital Universitari Principe de Asturias
  • Washington University St. Louis
  • Institute for Systems Biology

External person

Reza Ghasemi

  • Division of Urologic Surgery
  • Washington University St. Louis
  • Section of Transplantation
  • Department of Medicine

External person

Barry Ganetzky

  • University of Wisconsin-Madison
  • Laboratory of Genetics
  • Washington University St. Louis
  • Department of Anatomy
  • Laboratory of Genetics
  • University of Michigan, Ann Arbor

External person

Umut Aypar

  • Department of Laboratory Medicine and Pathology
  • Mayo Clinic Rochester, MN

External person

Catherine E. Cottrell

  • Department of Pathology and Immunology
  • Washington University St. Louis
  • Departments of Surgery and Immunology
  • Institute for Genomic Medicine
  • Nationwide Children’s Hospital
  • Department of Pathology and Immunology
  • Department of Genetics
  • Department of Genetics
  • Department of Pathology and Immunology
  • Genomics and Pathology Services
  • Institute for Genomic Medicine
  • Ohio State University
  • Department of Pathology
  • Department of Pathology and Immunology
  • Departments of Pathology and Immunology
  • Department of Pathology and Immunology
  • Genomics and Pathology Services

External person

Alexa Dickson

  • Washington University St. Louis

External person

Elena Repnikova

  • University of Missouri at Kansas City
  • Children's Mercy Hospitals and Clinics

External person

Christopher A. Walsh

  • Department of Pediatrics
  • Division of Genetics
  • Harvard University
  • Department of Neurology
  • Program in Biological and Biomedical Sciences
  • Department of Neurology
  • Howard Hughes Medical Institute
  • National Institutes of Health
  • Department of Neurology
  • Department of Neurology and Program in Neuroscience
  • Department of Neurology
  • UDN Coordinating Center
  • Departments of Neurology
  • Harvard
  • Massachusetts Institute of Technology
  • Harvard
  • Beth Israel Deaconess Medical Center
  • Broad Institute
  • Washington University St. Louis
  • Boston Children's Hospital
  • Harvard Institutes of Medicine
  • Brigham and Women’s Hospital

External person

Jean Philippe Roy

  • University of Montreal

External person

Zofia Zysman-Colman

  • University of Montreal
  • University of Pennsylvania

External person

Rebecca Pinsky

  • Boston Children's Hospital

External person

Kevin He

  • Washington University St. Louis

External person

Lucinda Antonacci-Fulton

  • Washington University St. Louis

External person

Carina Dehner

  • Washington University St. Louis
  • Department of Pathology and Immunology
  • Mayo Clinic Rochester, MN
  • Indiana University-Purdue University Indianapolis
  • Indiana University Bloomington

External person

Sophie Rondeau

  • Université Paris Cité
  • Université Paris 5

External person

Beth A. Pitel

  • Mayo Clinic Rochester, MN

External person

Prasad Koduru

  • University of Texas Southwestern Medical Center

External person

Robert Bell

  • Washington University St. Louis
  • University of Michigan, Ann Arbor

External person

Marielle Yohe

  • National Institutes of Health

External person

David F. Carpentieri

  • Phoenix Children's Hospital

External person

Brandon M. Shaw

  • Henry Ford Health System

External person

Colleen Jackson-Cook

  • Virginia Commonwealth University

External person

Anthony J. Barkovich

  • University of California at San Francisco

External person

Amy Theos

  • University of Alabama at Birmingham
  • Department of Dermatology

External person

Zita Hubler

  • Washington University St. Louis
  • Case Western Reserve University

External person

Laura Pollard

  • Greenwood Genetics Center

External person

Susan S. AlHumaidi

  • Section of Medical Genetics
  • Children's Specialist Hospital

External person

Renzo Guerrini

  • Paediatric Neurology
  • NEUROFARBA
  • University of Florence
  • IRCCS Fondazione Stella Maris - Calambrone (Pisa)
  • Azienda Ospedaliero Universitaria Meyer
  • Pediatric Neurology Unit and Laboratories
  • Children's Hospital
  • Pediatric Neurology
  • Children's Hospital Anna Meyer–University of Florence
  • Meyer Children's Hospital IRCCS
  • Universidade Estadual de Campinas

External person

Ziba Mosayebi

  • Tehran University of Medical Sciences

External person

Joshua L. Deignan

  • Department of Pathology and Laboratory Medicine
  • University of California at Los Angeles

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

Shashirekha Shetty

  • Case Western Reserve University

External person

Heather Mason-Suares

  • Laboratory for Molecular Medicine
  • Harvard University

External person

Ann M. Kulungowski

  • University of Colorado Anschutz Medical Campus

External person

Bhuvana Setty

  • Ohio State University
  • Nationwide Children’s Hospital

External person

Mohammad Reza Zarkesh

  • Tehran University of Medical Sciences

External person

Ali Rashidi-Nezhad

  • Tehran University of Medical Sciences

External person

Vimla Aggarwal

  • Institute for Genomic Medicine
  • Columbia University
  • New York University

External person

Cindy L. Vnencak-Jones

  • Interpretation of Sequence Variants in Somatic Conditions Working Group of the Clinical Practice Committee
  • Association for Molecular Pathology
  • Vanderbilt University
  • Department of Pathology

External person

Brigitte Gilbert-Dussardier

  • Université de Poitiers
  • CHU de Poitiers

External person

Zaki El-Haffaf

  • University of Montreal
  • Centre de Recherche du Centre Hosp. Universitaire de Montréal

External person

Mahboobeh Shirazi

  • Tehran University of Medical Sciences

External person

Shibo Li

  • Department of Pediatrics
  • University of Oklahoma
  • College of Medicine
  • Department of Pediatrics and

External person

Anne Boland

  • Université Paris-Saclay
  • Centre National de Recherche en Génomique Humaine (CNRGH)
  • Commissariat à l’énergie atomique et aux énergies alternatives
  • ComUE Paris-Saclay
  • Centre National de Recherche en Génomique Humaine
  • CEA-Institute de Génomique

External person

Eissa A. Faqeih

  • Section of Medical Genetics
  • King Fahad Medical City
  • Children's Specialist Hospital
  • Section of Medical Genetics

External person

Dominique Bonneau

  • Université d'Angers
  • Département de Biochimie et Génétique
  • Institut national de la santé et de la recherche médicale
  • CNRS

External person

Rizwan Naeem

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

External person

Victoria Tate

  • Washington University St. Louis

External person

Julie Powell

  • University of Montreal

External person

E. C. Engle

  • Harvard Medical School
  • Massachusetts Institute of Technology
  • Harvard University
  • Boston Children's Hospital
  • Broad Institute

External person

Lacey Smith

  • Harvard University
  • Epilepsy Genetics Program
  • Boston Children's Hospital

External person

Niina Kleiber

  • University of Montreal

External person

Josée Dubois

  • Department of Medical Imaging
  • Genetics Service
  • University of Lisbon
  • University of Montreal
  • Department of Medical Imaging
  • Sainte-Justine Mother-Child University Hospital
  • Department of Medical Imaging
  • Hospital Santa Marta

External person

Gail H. Vance

  • Indiana University-Purdue University Indianapolis
  • Medical and Molecular Genetics
  • Indiana University Bloomington

External person

Jean François Deleuze

  • Université Paris-Saclay
  • Centre National de Recherche en Génomique Humaine (CNRGH)
  • Commissariat à l’énergie atomique et aux énergies alternatives
  • ComUE Paris-Saclay
  • Commissariat à l’Energie Atomique
  • Centre National de Recherche en Génomique Humaine
  • Fondation Jean Dausset - CEPH
  • CEA-Institute de Génomique
  • University of Copenhagen
  • Paris-GH Tarnier-Cochin

External person

Mayher Patel

  • Broad Institute

External person

Eléonore Viora-Dupont

  • Hôpital d'Enfants CHU Dijon

External person

Roksana Moeini

  • Tehran University of Medical Sciences

External person

Antoine Gourmel

  • University of Montreal

External person

Annapurna Poduri

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

External person

Allen Bale

  • Yale University

External person

Ali Aldawood

  • Washington University St. Louis

External person

Mohammad Ali Daneshmand

  • Arak University of Medical Sciences

External person

Lina Shao

  • Department of Molecular and Human Genetics
  • Baylor College of Medicine
  • University of Michigan, Ann Arbor

External person

Ganeshwaran H. Mochida

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

External person

Shivarajan M. Amudhavalli

  • Children's Mercy Hospitals and Clinics
  • University of Missouri at Kansas City

External person

Birgit H. Funke

  • Harvard University
  • Veritas Genetics
  • Department of Pathology
  • Yeshiva University
  • Sema4
  • Massachusetts General Hospital
  • Albert Einstein College of Medicine
  • Icahn School of Medicine at Mount Sinai

External person

Devon Knight

  • Harvard University
  • Boston Children's Hospital

External person

Roxana Kariminejad

  • Kariminejad-Najmabadi Pathology and Genetics Center

External person

Jeffrey Ng

  • Washington University St. Louis

External person

Shirin Shamel

  • Tehran University of Medical Sciences

External person

Tayebeh Salehnezhad

  • Ronash Medical Genetics Laboratory

External person

Minjie Luo

  • University of Pennsylvania
  • The Children's Hospital of Philadelphia

External person

Lily Mahapatra

  • Washington University St. Louis
  • University of Washington

External person

Tahereh Esmaeilnia Shirvany

  • Tehran University of Medical Sciences

External person

Heather C. Mefford

  • University of Washington
  • Brotman Baty Institute for Precision Medicine
  • PNW Research Station
  • St. Jude Children Research Hospital
  • Seattle Children's Hospital

External person

Vafa Ghorbansabagh

  • Tehran University of Medical Sciences

External person

Timothy W. Yu

  • Harvard University
  • Boston Children's Hospital
  • Broad Institute

External person

Sarah Chamlin

  • Division of Pediatric Dermatology
  • Children's Memorial Hospital
  • Rady Children's Hospital
  • University of California at San Francisco
  • Washington University St. Louis
  • Medical College of Wisconsin
  • Northwestern University

External person

Caroline Benech

  • Université de Bretagne Occidentale

External person

Marina DiStefano

  • Geisinger
  • Broad Institute

External person

Edward Yang

  • Boston Children's Hospital
  • Harvard University
  • Department of Radiology
  • Boston Children's Hospital

External person

Christian Renaud

  • University of Montreal

External person

Eli S. Williams

  • University of Virginia

External person

Ibrahim Elsharkawi

  • Department of Pediatrics
  • Harvard University
  • Washington University St. Louis
  • University of Pennsylvania
  • Massachusetts General Hospital
  • The Children's Hospital of Philadelphia

External person

Annick Toutain

  • Service de Génétique
  • Université de Tours
  • Centre Hospitalier Régional Universitaire de Tours

External person

Marco L. Leung

  • Ohio State University
  • Nationwide Children’s Hospital
  • The University of Chicago

External person

Gregory D. Pearson

  • Nationwide Children’s Hospital

External person

Victor Kokta

  • University of Montreal

External person

Fatemeh Golshahi

  • Tehran University of Medical Sciences

External person

Kevin Uguen

  • Université de Bretagne Occidentale
  • CHU de Brest

External person

Cassandra Hollinger

  • Department of Child Health
  • University of Missouri
  • Department of Child Health

External person

F. Tran Mau-Them

  • 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'

External person

Kristy Crooks

  • University of Colorado Anschutz Medical Campus
  • Association for Molecular Pathology

External person

Daniel B. Bellissimo

  • University of Pittsburgh

External person

Jack F. Shern

  • National Institutes of Health

External person

Abolfazl Heidari

  • Sana Medical Genetics Laboratory
  • Qazvin University of Medical Sciences

External person

David Miller

  • Harvard University
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Laboratory Medicine
  • Division of Genetics and Genomics
  • Boston Children's Hospital

External person

Patrick Lundquist

  • Mayo Clinic Rochester, MN

External person

Marlène Rio

  • Service de Génétique
  • Institut national de la santé et de la recherche médicale
  • Université Paris 5
  • Université Paris Cité

External person

Eric D. Marsh

  • Division of Child Neurology
  • University of Pennsylvania
  • Division of Neurology
  • Departments of Neurology and Pediatrics
  • Department of Neurology and Pediatrics
  • Division of Neurology and Pediatrics
  • Department of Neurology
  • Department of Pediatrics
  • Department of Neurology
  • Department of Pediatrics
  • Children’s Hospital
  • The Children's Hospital of Philadelphia

External person

Mathieu Bergeron

  • University of Montreal

External person

Aubrie Soucy

  • Harvard University
  • Membership of the SPARK Consortium Members is Provided in the Acknowledgements
  • Boston Children's Hospital

External person

William Hong

  • Harvard University
  • Boston Children's Hospital

External person

Amirhosein Mehrtash

  • Ronash Medical Genetics Laboratory

External person

Bo Yuan

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

External person

Natáliya Tkachenko

  • Centro Hospitalar Universitário do Porto
  • University Hospital Center of Santo António

External person

Fady M. Mikhail

  • University of Alabama at Birmingham

External person

Ying Chen Claire Hou

  • Washington University St. Louis
  • Canada's Michael Smith Genome Sciences Centre
  • Provincial Health Services Authority

External person

Mahtash Malekian

  • Ronash Medical Genetics Laboratory

External person

Fatemeh Rahimi Sharbaf

  • Tehran University of Medical Sciences

External person

Stephen R. Moore

  • Oregon Health and Science University

External person

Elizabeth Spiteri

  • Neurogenetics Program
  • University of California at Los Angeles
  • Cedars-Sinai Medical Center
  • Department of Pathology
  • Stanford University

External person

Rong Mao

  • University of Utah

External person

Lance H. Rodan

  • National Institutes of Health
  • UDN Coordinating Center
  • Harvard University
  • Division of Genetics and Genomics
  • Department of Pediatrics
  • Harvard
  • Harvard
  • Brigham and Women’s Hospital
  • Boston Children's Hospital

External person

Ilias Kounatidis

  • Cell Biology
  • University of Oxford

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

Elyse B. Mitchell

  • Cytogenetics Laboratory
  • Mayo Clinic Rochester, MN
  • Department of Laboratory Medicine and Pathology

External person

Sara Spencer

  • Northwestern University

External person

Parvane Sadeghimoghadam

  • Tehran University of Medical Sciences

External person

Eleanor Sams

  • Washington University St. Louis

External person

T. Smolarek

  • Department of Hematology Oncology
  • Cincinnati Children's Hospital Medical Center
  • University of Cincinnati

External person

Claude Férec

  • Génomique Fonctionnelle et Biotechnologies
  • Université de Bretagne Occidentale
  • CHU de Brest

External person

Abbe Lai

  • Harvard University
  • Boston Children's Hospital

External person

Andrew J. Petersen

  • Department of Cell and Regenerative Biology
  • University of Wisconsin-Madison

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
  • BCM

External person

Sarah L. Stein

  • The University of Chicago

External person

Jason Walker

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

External person

Amir Naddaf

  • Tehran University of Medical Sciences

External person

Parisa Vaseghi

  • Tehran University of Medical Sciences
  • Iranian Academic Center for Education, Culture and Research

External person

Margaret Hayne

  • University of Wisconsin-Madison
  • Laboratory of Genetics
  • Washington University St. Louis
  • Department of Neurology

External person

Behrokh Sahebdel

  • Tehran University of Medical Sciences

External person

Jamel Chelly

  • Université Paris 5
  • Université de Strasbourg
  • Pôle de biologie
  • Translational Medicine and Neurogenetics Department
  • Hôpital civil
  • Fédération de Médecine Translationnelle de Strasbourg (FMTS)
  • Laboratoire de Diagnostic Génétique
  • Institute of Genetics and Molecular and Cellular Biology (IGBMC)
  • Université Paris Cité

External person

Ying Chen Claire Hou

  • Washington University St. Louis

External person

F. Sessions Cole

  • Washington University St. Louis

External person

Christelle Moufawad El Achkar

  • Harvard University
  • Boston Children's Hospital

External person

Marie Joelle Doré-Bergeron

  • University of Montreal

External person

Robert B. Hufnagel

  • Department of Pediatrics
  • University of Cincinnati
  • Cincinnati Children's Hospital Medical Center
  • Division of Human Genetics
  • National Institutes of Health

External person

Jessica Sebastian

  • Department of Medical Genetics
  • University of Pittsburgh

External person

Catherine Shain

  • Department of Neurology
  • Harvard University
  • Department of Neurology

External person

Kristen L. Deak

  • Duke University
  • Mayo Clinic Rochester, MN

External person

Robi D. Mitra

  • Washington University St. Louis

External person

Stéphane Bézieau

  • Service de Génétique Médicale
  • Nantes Université
  • Université d'Angers
  • CHU de Nantes
  • L'institut du Thorax
  • Nantes University Hospital
  • Institut national de la santé et de la recherche médicale

External person

Celia Azevedo Soares

  • University of Porto
  • Centro Hospitalar Universitário do Porto
  • University Hospital Center of Santo António

External person

Jessica Van Ziffle

  • University of California at San Francisco

External person

Hyun Yong Koh

  • Boston Children's Hospital
  • Baylor College of Medicine

External person

Mahdieh Mokhberdezfuli

  • Ronash Medical Genetics Laboratory
  • Tehran University of Medical Sciences

External person

Amin Ardeshirdavani

  • Cimorgh Medical IT Solutions

External person

Thai Hoa Tran

  • University of Montreal

External person

Dhruv Jayanth

  • Cell Biology
  • University of Oxford

External person

Fernando Zazueta Leon-Quintero

  • Hospital San Javier
  • Washington University St. Louis

External person

Khadija Belhassan

  • Washington University St. Louis

External person

Sylvia Redon

  • Université de Bretagne Occidentale
  • CHU de Brest

External person

Suneeta Madan-Khetarpal

  • Department of Medical Genetics
  • University of Pittsburgh
  • Baylor College of Medicine
  • Human Genome Sequencing Center

External person

Cédric Le Marechal

  • Université de Bretagne Occidentale
  • CHU de Brest

External person

Neda Fattahi

  • Ronash Medical Genetics Laboratory

External person

Seyed Mohammad Akrami

  • Tehran University of Medical Sciences

External person

Ramin Rashidi-Nezhad

  • Ronash Medical Genetics Laboratory

External person

Yves Théorêt

  • University of Montreal

External person

Catherine McCuaig

  • University of Montreal

External person

Sylvie Odent

  • École nationale supérieure de chimie de Rennes
  • CHU de Rennes
  • Service de Génétique Clinique
  • CNRS
  • UMR 6290
  • Hôpital Sud
  • Hôpital SUD

External person

Ewurabena Simpson

  • University of Ottawa

External person

Hossein Dalili

  • Tehran University of Medical Sciences

External person

Kendra Engleman

  • University of Missouri at Kansas City
  • Children's Mercy Hospitals and Clinics

External person

Christopher J. Yuskaitis

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

External person

Bahareh A. Mojarad

  • Washington University St. Louis

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

Jessica K. Booker

  • University of North Carolina at Chapel Hill
  • Department of Pathology/Lab. Medicine
  • Department OfPathology and Laboratory Medicine
  • Departments of Pathology and Laboratory Medicine and of Neurology

External person

Petros Ligoxygakis

  • Cell Biology
  • University of Oxford

External person

Vanessa Horner

  • University of Wisconsin-Madison

External person

Beth A. Drolet

  • University of Wisconsin-Madison
  • Department of Dermatology
  • Department of Dermatology
  • Medical College of Wisconsin
  • Bai Jerbai Wadia Hospital for Children
  • University of Wisconsin

External person

Laleh Habibi

  • Ronash Medical Genetics Laboratory

External person

Ghayda M. Mirzaa

  • Department of Pediatrics
  • Center for Integrative Brain Research
  • Children's Hospital and Regional Medical Center Seattle
  • University of Washington
  • The University of Chicago
  • Department of Human Genetics
  • Cystic Fibrosis Foundation Therapeutics Development Network Coordinating Center
  • Department of Human Genetics
  • Seattle Children’s Research Institute
  • Center for Integrative Brain Research
  • Seattle Children's Research Institute
  • Center for Integrative Brain Research
  • Seattle Children’s Research Institute
  • Department of Pediatrics
  • Brotman Baty Institute for Precision Medicine
  • PNW Research Station

External person