Calculated based on number of publications stored in Pure and citations from Scopus
20182023

Research activity per year

Network

Amber Freed

  • University of Pennsylvania
  • SLC6A1 Connect Foundation
  • SLC6A1 Connect
  • The Children's Hospital of Philadelphia
  • SLC6A1 Connect

External person

Katrine M. Johannesen

  • University of Copenhagen
  • University of Southern Denmark
  • Danish Epilepsy Centre, Dianalund

External person

Rikke S. Møller

  • University of Copenhagen
  • University of Southern Denmark
  • Institute for Regional Health Services
  • CHU de Rennes
  • CHU Rennes
  • Danish Epilepsy Centre, Dianalund

External person

Angel Aledo-Serrano

  • Vithas Madrid La Milagrosa University Hospital
  • Hospital Ruber Internacional

External person

Scott Demarest

  • University of Colorado Anschutz Medical Campus
  • University of Colorado Denver
  • The Children's Hospital, Aurora

External person

Laina Lusk

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

External person

Birgit Susanne Jepsen

  • Danish Epilepsy Centre, Dianalund

External person

Suyash Prasad

  • Taysha Gene Therapies

External person

Terry Jo V. Bichell

  • COMBINEDBrain
  • COMBINEDBrain
  • Vanderbilt University

External person

Deborah A. Bilder

  • University of Utah

External person

Ashwani Kumar

  • University of Texas Southwestern Medical Center
  • Eugene McDermott Center for Human Growth and Development
  • Eugene McDermott Center for Human Growth & Development
  • Eugene McDermott Center for Human Growth & Development
  • Eugene McDermott Center for Human Growth and Development
  • University of Texas at Dallas

External person

Benedetta Kassabian

  • University of Padua
  • Danish Epilepsy Centre, Dianalund

External person

Tahsin Stefan Barakat

  • Erasmus University Rotterdam

External person

Guido Rubboli

  • University of Copenhagen
  • Danish Epilepsy Centre, Dianalund

External person

Arthur Stefanski

  • Cleveland Clinic Foundation

External person

Megan Bone

  • University of Texas Southwestern Medical Center

External person

Helena Alarcon-Martinez

  • Hospital Virgen de la Arrixaca

External person

Dennis Lal

  • Massachusetts Institute of Technology
  • University of Cologne
  • Broad Institute
  • Cleveland Clinic Foundation
  • University of Texas Health Science Center at Houston

External person

Marjon van Slegtenhorst

  • Erasmus University Rotterdam

External person

Katherine L. Helbig

  • Division of Clinical Genomics
  • Division of Clinical Genomics
  • University of Pennsylvania
  • Division of Neurology
  • Ambry Genetics
  • The Children's Hospital of Philadelphia

External person

Anna Abulí Vidal

  • Vall d'Hebron Research Institute
  • Hospital Universitari Vall d'Hebron

External person

Islam Oguz Tuncay

  • University of Texas Southwestern Medical Center

External person

Tarja Linnankivi

  • Children's Hospital Helsinki

External person

Kyle Horning

  • COMBINEDBrain
  • COMBINEDBrain

External person

Christina Dühring Fenger

  • Amplexa Genetics
  • Danish Epilepsy Centre, Dianalund

External person

Michael Bayat

  • Aarhus University

External person

Chanchal Sadhu

  • Taysha Gene Therapies

External person

Dominique D. Cooper

  • University of Texas Southwestern Medical Center
  • Children's Health

External person

Wendy K. Chung

  • Columbia University
  • Department of Veterans Affairs
  • Simons Foundation

External person

Pamela Pojomovsky McDonnell

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

External person

Gabriel Valero-Lopez

  • Hospital Virgen de la Arrixaca

External person

Jingqiong Kang

  • Vanderbilt University

External person

Elizabeth Butler

  • OPKO Health, Inc.

External person

Leslie Danvoye

  • Université catholique de Louvain

External person

Victor Daescu

  • University of Texas Southwestern Medical Center

External person

Tri Pham

  • University of Texas Southwestern Medical Center
  • University of Cincinnati

External person

Sarah Drewes

  • University of Pittsburgh

External person

Raida Khalil

  • Philadelphia University
  • University of Texas Southwestern Medical Center
  • University of Philadelphia

External person

Eduardo PCrossed D Sign©rez-Palma

  • Cleveland Clinic Foundation

External person

Arjan Bouman

  • Erasmus University Rotterdam

External person

Troy C. Lund

  • University of Minnesota Twin Cities

External person

Cynthia Feng

  • Neurogene Inc.

External person

Byungchan Lim

  • Seoul National University

External person

Dianalee McKnight

  • GeneDx
  • GeneDX Inc
  • Invitae Corporation
  • OPKO Health, Inc.

External person

Samiah A. Al-Zaidy

  • Al-Zaidy and Associates, LLC
  • LLC

External person

Eveline Hagebeuk

  • Epilepsy Institutes of the Netherlands Foundation

External person

Jennifer L. Howe

  • University of Toronto

External person

Yuliya Voskobiynyk

  • Gladstone Institutes
  • University of California at San Francisco

External person

Maryam Nabavi Nouri

  • Western University

External person

Elijah W. Simon

  • Vanderbilt University

External person

J. R. Mendell

  • Nationwide Children's Hospital
  • Ohio State University
  • The Ohio State University
  • Nationwide Children’s Hospital
  • Department of Neurology
  • Department of Neurology
  • Center for Gene Therapy
  • Department of Pediatrics
  • Center for Gene Therapy
  • Departments of Neurology and Pediatrics
  • Department of Pediatrics
  • Research Institute
  • Departments of Biochemistry, Plant Biology

External person

Damien Lederer

  • Institut de Pathologie et de Génétique
  • Centre de Génétique Humaine
  • Institute of Pathology and Genetics, Gosselies

External person

Eduardo Pérez-Palma

  • Cologne Center for Genomics
  • University of Cologne
  • Universidad del Desarrollo

External person

Akshat Patel

  • University of Texas Southwestern Medical Center
  • University of Texas at Dallas

External person

Marena Trinidad

  • BioMarin Pharmaceutical Inc.

External person

Marwan Shinawi

  • Washington University School of Medicine
  • Baylor College of Medicine
  • Washington University St. Louis
  • Divisions of Hematology-Oncology, N.
  • Department of Pediatrics
  • Human Genome Sequencing Center
  • Department of Molecular and Human Genetics
  • Texas Children's Hospital Houston

External person

Amanda S. Freed

  • Kaiser Permanente

External person

Mary Ann Morris

  • University of Texas Southwestern Medical Center
  • Department of Pediatrics and Neurology
  • Children's Health Dallas

External person

Katherine B. Howell

  • University of Melbourne
  • Royal Children's Hospital
  • Murdoch Children's Research Institute

External person

Alexander T. Deng

  • Guy's and St Thomas' NHS Foundation Trust

External person

Julia Taravella

  • Rare Trait Hope Fund

External person

Jennifer M. Bain

  • Columbia University

External person

Stephen W. Scherer

  • King Abdulaziz University
  • University of Toronto
  • Genetic Studies (Hospital for Sick Children
  • University of British Columbia
  • Department of Molecular Genetics and McLaughlin Centre
  • Department of Genetics
  • Program in Genetics and Genome Biology
  • McLaughlin Centre
  • Department of Genetics
  • Department of Genetics
  • Department of Medical and Molecular Genetics
  • Program in Genetics/Genomic Biology
  • McLaughlin Centre
  • Department of Molecular Genetics
  • Program in Developmental Biology
  • Institute of Medical Sciences
  • Program in Genetics and Genome Biology
  • Center of Excellence in Genomic Medicine Research
  • McLaughlin Centre and The Centre for Applied Genomics
  • Genetics and Genome Biology
  • Department of Molecular Genetics
  • Division of Neurology
  • Department of Molecular Genetics
  • Centre for Applied Genomics
  • University of Rome Tor Vergata
  • Genetic Studies Group (Hospital for Sick Children)
  • University of Washington
  • Program in Genetics and Genome Biology (GGB)
  • Centre for Applied Genomics, Genetics and Genome Biology
  • Hospital for Sick Children

External person

Britta E. Lindquist

  • University of California at San Francisco
  • Gladstone Institutes

External person

Vincenzo Crunelli

  • Cardiff University
  • University of Malta

External person

Maishara Muquith

  • University of Texas Southwestern Medical Center

External person

Emily De Los Reyes

  • Nationwide Children’s Hospital
  • Ohio State University

External person

Can Ozlu

  • University of Texas Southwestern Medical Center

External person

Frances C. Shaffo

  • University of Texas Southwestern Medical Center

External person

Darlene DeVries

  • University of Texas Southwestern Medical Center

External person

Marie MacNee

  • University of Cologne

External person

Anna Abulí

  • Vall d'Hebron Research Institute

External person

Maina P. Kava

  • Perth Children's Hospital
  • University of Western Australia

External person

Lee Anne Green Snyder

  • Simons Foundation

External person

Catherine A. Brownstein

  • Harvard University
  • Boston Children's Hospital

External person

Geraldine Bliss

  • Phelan-McDermid Syndrome Foundation 8 Sorrento Drive

External person

Jeanne T. Paz

  • Gladstone Institutes
  • University of California at San Francisco

External person

Rikke S. Møller

  • Danish Epilepsy Centre, Dianalund
  • University of Southern Denmark

External person

M. J. Hajianpour

  • East Tennessee State University
  • Department of Pediatrics
  • East Tennessee State University
  • Albany Medical College

External person

Maria Picone

  • TREND Community

External person

Tobias Brünger

  • University of Cologne

External person

Cornelius Gati

  • University of Southern California

External person

Jacques P. Tremblay

  • Université Laval

External person

Shannon E. Boye

  • University of Florida

External person

Judy S. Liu

  • Brown University

External person

Alexander Tan

  • Children's Medical Center Dallas
  • University of Texas Southwestern Medical Center
  • Children's Medical Center Dallas
  • Children’s Healthcare of Atlanta
  • Children's Healthcare of Atlanta
  • Children’s Health Orange County
  • Children's Healthcare of Atlanta

External person

Ludovica Montanucci

  • Cleveland Clinic Foundation

External person

Trevor L. Hoffman

  • Kaiser Permanente

External person

Lindsey A. George

  • Division of Hematology and the Perelman Center for Cellular and Molecular Therapeutics
  • University of Pennsylvania
  • The Children's Hospital of Philadelphia

External person

Thomas Balslev

  • Aarhus University

External person

Sanford L. Boye

  • University of Florida

External person

Tuba Rashid Khan

  • University of Texas Southwestern Medical Center
  • Department of Neurology
  • Emory University

External person

Diane Linnehan

  • Phelan-McDermid Syndrome Foundation 8 Sorrento Drive

External person

Ingo Helbig

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

External person

Sumaiya Iqbal

  • Broad Institute

External person

Sanjana Kalvakuntla

  • University of Texas Southwestern Medical Center

External person

Arthur J. Campbell

  • Broad Institute

External person

Tugce Balci

  • Western University

External person

Louise R. Rodino-Klapac

  • Nationwide Children’s Hospital
  • Ohio State University
  • Department of Pediatrics
  • Center for Gene Therapy
  • Department of Pediatrics
  • Departments of Neurology and Pediatrics
  • Sarepta Therapeutics

External person

Line Futtrup

  • Aarhus University

External person

Arthur Wuster

  • BioMarin Pharmaceutical Inc.

External person

Christine N. Kay

  • Vitreoretinal Associates
  • Vitreoretinal Associates
  • University of Florida

External person

Loai Alzghoul

  • University of Jordan

External person

Nancy Parmalee

  • Columbia University
  • Department of Genetics and Development
  • The Taub Institute for Research on Alzheimer's Disease and the Aging Brain
  • Department of Pathology and Cell Biology
  • University of Texas Southwestern Medical Center

External person

Nicole C. Weitzel

  • Vanderbilt University

External person

Leah Seyoum-Tesfa

  • Reaching Families Advocacy and Support Group

External person

Johannes R. Lemke

  • Leipzig University

External person

Minna Laine

  • University of Helsinki
  • Biomed

External person

Anja Kattentidt

  • Stichting Zuidwester

External person

Katherine Langer

  • Vanderbilt University

External person

Anna C. Pfalzer

  • COMBINEDBrain

External person

Manuela Corti

  • University of Florida

External person

Jean Khoury

  • Cleveland Clinic Foundation

External person

Brandon Prentice

  • SLC6A1 Connect Foundation

External person

Darrel Conger

  • University of Texas Southwestern Medical Center at Dallas
  • University of Texas at Austin
  • University of Texas Southwestern Medical Center
  • Southwestern Medical Center at Dallas
  • University of Texas Southwestern Medical Center
  • University of Texas Southwestern
  • Department of Neurology
  • Department of Neurology
  • Department of Neurology and Therapeutics
  • Department of Neurology and Neurotherapeutics
  • Medical Center
  • Neuroinnovation Program
  • University of Texas Southwestern
  • Department of Neurology
  • Department of Ophthalmology
  • Department of Ophthalmology
  • University of Texas at Dallas
  • University of Pennsylvania

External person

Patrick May

  • University of Luxembourg

External person

Stephanie Salabarria

  • University of Pennsylvania

External person

Fatemeh Tavakkoli

  • Taysha Gene Therapies

External person

Ashlesha Gogate

  • University of Texas Southwestern Medical Center

External person

Artem Borovikov

  • Russian Academy of Medical Sciences

External person

Steven Froelich

  • BioMarin Pharmaceutical Inc.

External person

Jessica A. Cardenas

  • Taysha Gene Therapies

External person

Marc Engelen

  • Department of Neurology and Pediatric Neurology
  • University of Amsterdam
  • Amsterdam UMC

External person

Vincent Zimmern

  • Department of Neurology
  • University of Texas Southwestern Medical Center

External person

Kalene Van Engelen

  • Western University

External person

Jacob Tiller

  • SLC6A1 Connect

External person

Chiara Klöckner

  • Leipzig University

External person

Lindsay R. Mosca

  • Vanderbilt University

External person

Mary Ann Morris

  • Children's Health
  • Center for Autism and Developmental Disabilities

External person

Barry J. Byrne

  • University of Florida

External person

Mary Holmay

  • Taysha Gene Therapies

External person

Darrah N. Haffner

  • University of Texas Southwestern Medical Center
  • Population Health Data Strategies Children's Health System of Texas
  • Nationwide Children’s Hospital
  • Ohio State University
  • Washington University St. Louis

External person

Pasquale Striano

  • University of Genoa
  • IRCCS Istituto Giannina Gaslini - Genova
  • University of Naples Federico II

External person

Deb K. Pal

  • King's College London
  • King's College Hospital

External person

Kimberly L. Nye

  • TESS Research Foundation

External person

Samuel Hughes

  • University of Texas Southwestern Medical Center

External person

Maya Xia

  • COMBINEDBrain

External person

Mohamed Jimale

  • University of Texas Southwestern Medical Center

External person