Peter I Karachunski

1993 …2023

Research activity per year

Network

Craig M. Mcdonald

  • University of California at Davis
  • University of California Office of the President
  • Children's National Medical Center
  • Department Physical Medicine and Rehabilitation
  • UC Davis Children's Hospital
  • Department of Physical Medicine and Rehabilitation
  • Physical Medicine and Rehabilitation
  • UC Davis Children's Hospital
  • UC Davis Children's Hospital
  • University of California DavisSacramento
  • Western University

External person

Bianca M. Conti-Fine

  • ImmuLogic Pharmaceutical Corporation
  • University of Minnesota
  • Department of Biochemistry
  • Department of Biochemistry
  • Department of Biochemistry
  • ImmuLogic Pharmaceutical
  • Department of Pharmacology
  • Abbott Northwestern Hospital
  • Departments of Medicine and Pharmacology
  • Department of Dermatology
  • Department of Physiology
  • Department of Pharmacology
  • University of Minnesota Twin Cities

External person

Norma S. Ostlie

  • Iowa State University
  • University of Minnesota
  • Department of Biochemistry
  • Department of Biochemistry
  • Department of Biochemistry
  • Department of Biochemistry
  • Department of Biochemistry and Biophysics
  • Department of Pharmacology
  • Department of Pharmacology
  • University of Minnesota Twin Cities

External person

Anne M. Connolly

  • Washington University St. Louis
  • Children's National Medical Center
  • St. Louis Children’s Hospital
  • Department of Pediatrics
  • Department of Neurology
  • Edward Mallinckrodt
  • Department of Pediatrics
  • University of Washington
  • Department of Neurology
  • School of Medicine
  • The Ohio State University
  • Spinal Muscular Atrophy Foundation
  • Columbus Children's Hospital

External person

Már Tulinius

  • University of Gothenburg
  • Children's National Medical Center
  • Queen Silvia Children's Hospital
  • Department of Pediatrics
  • University of Calgary
  • Department of Pediatrics

External person

Kevin M. Flanigan

  • The Ohio State University
  • Columbus Children's Hospital
  • University of Utah
  • Nationwide Children's Hospital
  • Department of Neurology
  • The Center for Gene Therapy
  • The Departments of Pediatrics and Neurology
  • Human Genetics
  • Department of Pediatrics
  • The Center for Gene Therapy

External person

Erik K. Henricson

  • Children's National Medical Center
  • UC Davis Children's Hospital
  • University of California at Davis
  • Department of Physical Medicine and Rehabilitation
  • Physical Medicine and Rehabilitation
  • UC Davis Children's Hospital
  • UC Davis Children's Hospital

External person

John W. Day

  • Stanford University
  • Department of Neurology
  • University of Minnesota
  • Academic Health Center and Wellstone Muscular Dystrophy Center
  • Children's National Medical Center
  • Department of Neurology
  • Department of Genetics
  • Departments of Neurology and Neurological Sciences and Neurosurgery
  • Department of Neurology
  • Department of Neurology
  • Department of Neurology
  • Departments of Neurology
  • Department of Neurology
  • Departments of Neurology
  • University of California at San Francisco
  • Minnesota School of Medicine
  • University of Minnesota Twin Cities

External person

J. K. Mah

  • University of Calgary
  • Calgary
  • Alberta Children's Hospital
  • Children's National Medical Center

External person

Mathula Thangarajh

  • Children's National Medical Center
  • Queen Silvia Children's Hospital
  • Virginia Commonwealth University

External person

H. Abdel-Hamid

  • Children's National Medical Center
  • University of Pittsburgh
  • Department of Neurology

External person

Monique Ryan

  • Murdoch Children's Research Institute
  • Royal Children's Hospital
  • Department of Neurology
  • Children's National Medical Center
  • University of Melbourne

External person

Paula R. Clemens

  • Children's National Medical Center
  • Washington Veterans Affairs Medical Center
  • University of Pittsburgh
  • Neurology Service
  • Department of Neurology
  • Department of Neurology
  • Department of Neurology
  • Department of Neurology
  • Department of Microbiology and Molecular Genetics

External person

Richard T. Abresch

  • University of California at Davis
  • Children's National Medical Center
  • UC Davis Children's Hospital
  • Department of Physical Medicine and Rehabilitation
  • Physical Medicine and Rehabilitation
  • UC Davis Children's Hospital
  • Critical Path Institute
  • UC Davis Children's Hospital
  • Critical Path Institute

External person

Yoram Nevo

  • Children's National Medical Center
  • Hadassah University Medical Centre
  • Neuropediatric Unit

External person

Julaine M. Florence

  • Washington University St. Louis
  • Children's National Medical Center
  • Department of Neurology
  • University of Washington
  • Department of Neurology
  • School of Medicine
  • Spinal Muscular Atrophy Foundation

External person

Alan Pestronk

  • Washington University St. Louis
  • University of Washington
  • Children's National Medical Center
  • Department of Neurology
  • Department of Pathology and Immunology
  • Department of Neurology
  • School of Medicine

External person

Timothy Lotze

  • Baylor College of Medicine
  • Children's National Medical Center
  • USDA/ARS Children's Nutrition Research Center
  • Texas Children's Hospital Houston

External person

A. Kornberg

  • Children's National Medical Center
  • Royal Children's Hospital
  • Department of Neurology

External person

Lauren P. Morgenroth

  • Children's National Medical Center
  • Therapeutic Research in Neuromuscular Disorders Solutions, LLC
  • University of Calgary
  • TRiNDS

External person

Laura C. McAdam

  • Children's National Medical Center

External person

J. Dalton

  • Children's National Medical Center
  • Paul and Shelia Wellstone Muscular Dystrophy Center
  • University of Minnesota
  • Department of Neurology
  • Department of Genetics
  • Academic Health Center and Wellstone Muscular Dystrophy Center
  • Stanford University
  • University of Minnesota Twin Cities
  • Ulm University

External person

N. Joyce

  • Children's National Medical Center
  • University of California at Davis
  • Department of Physical Medicine and Rehabilitation
  • Physical Medicine and Rehabilitation

External person

Ksenija Gorni

  • Children's National Medical Center
  • Neuromuscular Omnicentre
  • University of Pavia
  • Department of Child Neurology and Psychiatry
  • Niguarda Hospital
  • Centro Clinico Nemo
  • F. Hoffmann-La Roche AG

External person

Russell Butterfield

  • University of Utah

External person

Linda P. Lowes

  • The Ohio State University
  • Nationwide Children's Hospital
  • Columbus Children's Hospital

External person

M. Guglieri

  • Newcastle upon Tyne Hospitals NHS Foundation Trust
  • Newcastle University

External person

Lindsay N. Alfano

  • The Ohio State University
  • Nationwide Children's Hospital
  • Columbus Children's Hospital

External person

Nancy L. Kuntz

  • Northwestern University
  • Ann and Robert H. Lurie Children's Hospital of Chicago
  • Department of Pediatric and Adolescent Medicine
  • Depts. Lab. Med. Pathol.
  • Mayo College of Medicine
  • Departments of Pediatrics and Neurology
  • Mayo Clinic
  • Departments of Neurology and Physical Medicine & Rehabilitation
  • Children's Memorial Hospital
  • Pediatrics

External person

Heather Gordish-Dressman

  • Children's National Medical Center
  • George Washington University
  • Center for Genetic Medicine
  • Children's National Health System

External person

Robert T. Leshner

  • Virginia Commonwealth University
  • Children's National Medical Center
  • Center for Genetic Medicine

External person

Basil T. Darras

  • Harvard University
  • Department of Neurology
  • Department of Neurology
  • Spinal Muscular Atrophy Foundation
  • The Pediatric Neuromuscular Clinical Research Network
  • Boston Children's Hospital

External person

Hanna Kolski

  • Children's National Medical Center
  • Department of Neurology
  • University of Alberta
  • Department of Pediatrics

External person

Francesco Muntoni

  • Hammersmith Hospital
  • Imperial College London
  • Dubowitz Neuromuscular Centre
  • University College London
  • Great Ormond Street Hospital
  • Dept. of Paediatr./Neonatal Medicine
  • Department of Paediatrics
  • Imperial College Healthcare NHS Trust
  • Stanford University
  • Great Ormond Street Hospital for Children NHS Trust
  • Imperial College of Medicine

External person

Jerry R. Mendell

  • The Ohio State University
  • Columbus Children's Hospital
  • Mayo Clinic
  • Department of Neurology
  • Columbia University
  • Autonomous University of Barcelona
  • Nationwide Children's Hospital
  • Department of Neurology
  • Depts. of Pediat./Neurol./Pathol.
  • Departments of Neurol. and Pediat.
  • Ctr. d'Invest. en Bioquim. i B. M.
  • The Center for Gene Therapy
  • The Departments of Pediatrics and Neurology

External person

Richard Finkel

  • University of Pennsylvania
  • Nemours
  • The Nemours Children's Clinic
  • Neuromuscular Program
  • Division of Neurology
  • Stanford University
  • St. Jude Children Research Hospital
  • The Pediatric Neuromuscular Clinical Research Network
  • The Children's Hospital of Philadelphia

External person

Tulio E. Bertorini

  • University of Tennessee, Knoxville
  • University of Tennessee Health Science Center
  • Children's National Medical Center
  • University of Tennessee System
  • Department of Neurology
  • Department of Neurology

External person

Alberto Dubrovsky

  • Children's National Medical Center
  • Department of Neurology
  • Fundación Favoloro
  • Fundación Favaloro

External person

A. Cnaan

  • The CINRG Coordinating Center
  • University of Calgary
  • Children's National Medical Center
  • George Washington University
  • Center for Genetic Medicine

External person

V. Vishwanathan

  • Department of Neurology
  • Sundaram Medical Foundation
  • Apollo Children’s Hospital
  • Department of Neurology

External person

Craig Campbell

  • Western University
  • Schulich School of Medicine and Dentistry
  • University of Western Ontario
  • Spinal Muscular Atrophy Foundation

External person

S. Chidambaranathan

  • Department of Neurology
  • Sundaram Medical Foundation
  • Apollo Children’s Hospital
  • Department of Neurology

External person

J. Teasley

  • Children's National Medical Center
  • Children's Hospital of Virginia
  • Children’s Hospital of Virginia
  • Virginia Commonwealth University

External person

Brenda Wong

  • Cincinnati Children's Hospital
  • University of Massachusetts Medical School
  • Spinal Muscular Atrophy Foundation

External person

Matteo Bellone

  • Vita-Salute San Raffaele University
  • University of Minnesota
  • University of Milan
  • Department of Biochemistry
  • Laboratory of Immunopathology
  • Department of Biochemistry
  • Department of Biochemistry
  • Department of Biochemistry
  • Department of Pharmacology
  • Department of Pharmacology

External person

Paul T. Golumbek

  • Washington University St. Louis
  • Department of Pediatrics
  • Department of Neurology
  • Edward Mallinckrodt
  • Department of Pediatrics
  • School of Medicine

External person

T. Duong

  • Children's National Medical Center
  • Stanford University
  • Center for Genetic Medicine
  • The CINRG Coordinating Center

External person

Michelle Eagle

  • Newcastle upon Tyne
  • Newcastle University
  • Institute of Genetic Medicine
  • Department of Neurology
  • Newcastle upon Tyne Hospitals NHS Foundation Trust

External person

Sherilyn W. Driscoll

  • Mayo Clinic
  • Mayo College of Medicine
  • Department of Pediatrics and Adolescent Medicine
  • Departments of Neurology and Physical Medicine & Rehabilitation

External person

W. D. Biggar

  • University of Minnesota
  • Pediatric Research Laboratories
  • Department of Paediatrics
  • University of Toronto
  • University of Toronto

External person

R. Webster

  • Children's National Medical Center
  • University of Sydney
  • Children’s Hospital of Westmead
  • Children's Hospital of Westmead
  • Columbia University
  • Children's Hospital Westmead
  • Sydney Children's Hospital
  • The Children's Hospital at Westmead

External person

S. Peltz

  • New York University
  • PTC Therapeutics
  • Skirball Institute
  • PTC Therapeutics

External person

J. Philip Miller

  • Washington University St. Louis
  • Division of Biostatistics
  • Coordinating Center
  • St. Louis School of Medicine
  • Department of Internal Medicine
  • Mayo Clinic
  • Division of Biostatistics

External person

Craig M. Zaidman

  • Washington University St. Louis
  • Department of Pediatrics
  • Department of Neurology
  • Edward Mallinckrodt
  • Department of Pediatrics
  • School of Medicine

External person

Bianca M. Conti-Tronconi

  • University of Minnesota
  • Department of Biochemistry
  • Department of Biochemistry
  • Department of Biochemistry
  • Department of Biochemistry
  • Department of Pharmacology
  • Department of Pharmacology
  • University of Minnesota Twin Cities

External person

Gary L. Elfring

  • University of South Florida
  • PTC Therapeutics
  • H Lee Moffitt Cancer Center and Research Institute
  • PTC Therapeutics

External person

Richard Barohn

  • University of Kansas
  • University of Texas Southwestern Medical Center
  • The University of Texas at Austin
  • Univ. of Texas-SW Medical School
  • Department of Neurology
  • California Pacific Medical Center
  • Department of Neurology
  • Department of Neurology
  • Department of Neurology
  • Department of Neurology
  • Department of Neurology
  • University of Kansas
  • University of Kansas
  • Department of Neurology
  • University of Texas at Dallas
  • University of Missouri

External person

Catherine A. Siener

  • Washington University St. Louis
  • Department of Neurology
  • Spinal Muscular Atrophy Foundation

External person

Kate Bushby

  • Newcastle upon Tyne
  • Newcastle University
  • Institute of Genetic Medicine
  • Department of Neurology
  • Newcastle upon Tyne Hospitals NHS Foundation Trust

External person

Elizabeth C. Malkus

  • Washington University St. Louis
  • Department of Neurology
  • School of Medicine

External person

C. Tesi-Rocha

  • Children's National Medical Center
  • Center for Genetic Medicine

External person

Jeanine R. Schierbecker

  • Washington University St. Louis
  • Department of Neurology

External person

Brenda L. Wong

  • University of Massachusetts Medical School
  • Cincinnati Children's Hospital

External person

J. Carlo

  • San Juan
  • University of Puerto Rico
  • Department of Neurology

External person

Eugenio Mercuri

  • Catholic University of the Sacred Heart
  • Fondazione Policlinico Universitario Agostino Gemelli IRCCS
  • University of Rome La Sapienza
  • Policlinico Universitario Agostino Gemelli

External person

Linda Johnson

  • University of California at Davis
  • University of California Office of the President
  • Children's National Medical Center
  • Department Physical Medicine and Rehabilitation
  • Department of Physical Medicine and Rehabilitation

External person

Susan D. Apkon

  • University of Colorado Denver
  • Seattle Children's Hospital

External person

Carsten Bönnemann

  • University of Pennsylvania
  • Division of Neurology
  • National Institutes of Health
  • National Institutes of Health
  • The Children's Hospital of Philadelphia

External person

Peter B. Kang

  • University of Florida
  • Harvard University
  • Department of Neurology
  • Department of Neurology
  • Division of Pediatric Neurology

External person

Anna Kaminska

  • Medical University of Warsaw
  • University of Warsaw

External person

Alina Nicorici

  • University of California at Davis
  • University of California Office of the President
  • Department Physical Medicine and Rehabilitation
  • Department of Physical Medicine and Rehabilitation

External person

Thomas Voit

  • Sorbonne Université
  • University College London
  • Institut de Myologie
  • Centre national de la recherche scientifique (CNRS)
  • Great Ormond Street Hospital for Children NHS Trust
  • National Institute for Health Research
  • University of Duisburg-Essen
  • Oxford Biomedical Research Centre

External person

Heather C. Mefford

  • University of Washington
  • Children's Hospital and Regional Medical Center Seattle
  • Seattle Children's Hospital
  • Department of Pediatrics
  • Department of Genome Sciences
  • Department of Pediatrics
  • Seattle Children's Hospital
  • Department of Pediatrics

External person

Erica Goude

  • Washington University St. Louis
  • University of California at Davis
  • Children's National Medical Center
  • Department Physical Medicine and Rehabilitation
  • Department of Neurology
  • Department of Physical Medicine and Rehabilitation

External person

Eugenio Mercuri

  • Policlinico Universitario Agostino Gemelli
  • Catholic University of the Sacred Heart
  • Department of Pediatric Neurology
  • Paediatric Neuropsychiatry Unit
  • Pediatric Neurology Unit
  • Fondazione Policlinico Universitario Agostino Gemelli IRCCS

External person

Livija Medne

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

External person

Perry B. Shieh

  • University of California Los Angeles
  • Department of Neurology

External person

Janbernd Kirschner

  • University of Freiburg
  • Division of Neuropediatrics and Muscle Disorders
  • University of Bonn
  • Freiberg University of Mining and Technology

External person

Kristy J. Rose

  • Children's National Medical Center
  • University of Sydney
  • Children’s Hospital of Westmead
  • Children's Hospital of Westmead
  • Children's Hospital Westmead
  • The Children's Hospital at Westmead

External person

James Howard

  • University of North Carolina
  • University of Minnesota
  • Department of Neurology
  • Department of Neurology
  • Department of Neurology
  • Department of Biochemistry
  • Department of Biochemistry
  • Department of Biochemistry

External person

Kathryn R. Wagner

  • Kennedy Krieger Institute
  • Hugo W. Moser Research Institute
  • Johns Hopkins University

External person

Eduard Gappmaier

  • University of Utah

External person

Barry S. Russman

  • Oregon Health and Science University
  • Shriners Hospitals for Children
  • Pediatric Neurology

External person

Sijin Lei

  • University of Minnesota
  • Department of Biochemistry
  • Department of Biochemistry
  • Department of Pharmacology
  • Abbott Northwestern Hospital
  • Department of Pharmacology

External person

Pallavi Anand

  • Washington University St. Louis
  • Department of Neurology

External person

R. M. Horton

  • University of California at Davis
  • University of Minnesota
  • Department of Biochemistry
  • Division of Pediatric Dermatology
  • Department of Dermatology
  • Department of Biochemistry
  • Department of Dermatology

External person

Enrico S. Bertini

  • IRCCS Ospedale pediatrico Bambino Gesù - Roma

External person

Andrés Nascimento Osorio

  • University of Barcelona

External person

Raghavanpillai Raju

  • Mayo Clinic
  • Myasthenia Gravis Foundation of America
  • University of Minnesota
  • Department of Immunology
  • Department of Biochemistry
  • Department of Immunology
  • Department of Pharmacology
  • Department of Biochemistry
  • Department of Pharmacology
  • Mayo College of Medicine

External person

Susan T. Iannaccone

  • University of Texas Southwestern Medical Center
  • Spinal Muscular Atrophy Foundation

External person

Edward C. Smith

  • Duke University
  • Duke University Medical Center
  • Department of Pediatrics

External person

Peter Heydemann

  • Rush University

External person

A. Begtrup

  • GeneDX Inc
  • OPKO Health, Inc.

External person

Cristina Monfardini

  • University of Minnesota
  • Department of Biochemistry
  • Department of Biochemistry
  • University of Minnesota Twin Cities

External person

Clemens Bloetzer

  • University of Lausanne

External person

M. T. Cho

  • GeneDX Inc
  • GeneDx
  • National Institutes of Health
  • OPKO Health, Inc.
  • National Institutes of Health

External person

Kristi J. Jones

  • Department of Clinical Genetics
  • University of Sydney
  • Children's National Medical Center
  • Department of Clinical Genetics
  • Sydney Children's Hospital
  • The Children's Hospital at Westmead

External person

Katie Golden-Grant

  • Children's Hospital and Regional Medical Center Seattle
  • Division of Genetic Medicine
  • Seattle Children's Hospital

External person

Jeffrey Statland

  • University of Kansas
  • University of Miami

External person

Wen Zhi Zhan

  • Mayo Clinic
  • Mayo College of Medicine
  • University of Minnesota
  • Dept. of Anesthesiology Research
  • Department of Anesthesiology Research
  • Department of Anesthesiology

External person

N. Shur

  • Albany Medical College
  • Division of Genetics
  • Children's National Medical Center

External person

Luca Bello

  • University of Padova
  • Children's National Medical Center
  • Department of Neurosciences

External person

Erika Finanger

  • Oregon Health and Science University

External person

Jennifer N. Dines

  • University of Washington
  • Children's Hospital and Regional Medical Center Seattle
  • Division of Genetic Medicine
  • Seattle Children's Hospital

External person

A. Harper

  • Department of Neurology
  • Virginia Commonwealth University
  • Carolinas Medical Center

External person

Mireille Claustres

  • CHU Montpellier
  • University of Montpellier
  • Universitéllier 1
  • Universite de Montpellier

External person

Barbara K. Burton

  • Children's Memorial Hospital
  • American College of Medical Genetics
  • Northwestern University
  • University of Pittsburgh
  • Division of Genetics
  • Division of Allergy and Clinical Immunology
  • Department of Pediatrics

External person

Chella S. David

  • Mayo Clinic
  • University of Minnesota
  • Department of Immunology
  • Department of Immunology
  • University of Minnesota Twin Cities
  • Mayo College of Medicine

External person

Marcio Souza

  • PTC Therapeutics
  • PTC Therapeutics

External person

Eric P. Hoffman

  • SUNY Binghamton
  • Children's National Medical Center

External person

Allan M. Glanzman

  • Children’s Hospital of Philadelphia
  • University of Pennsylvania
  • Spinal Muscular Atrophy Foundation
  • The Children's Hospital of Philadelphia

External person

Martin Kudr

  • Motol University Hospital

External person

Yann Péréon

  • Hotel Dieu CHU de Nantes
  • Universite de Nantes

External person

J. Lawrence Merritt

  • University of Washington
  • Children's Hospital and Regional Medical Center Seattle
  • Seattle Children's Hospital
  • Department of Pediatrics

External person

H. Lee Sweeney

  • University of Helsinki
  • University of Florida
  • University of Pennsylvania
  • Division of Pathology

External person

Dianne Laboy Cintrón

  • University of Washington
  • Department of Pediatrics

External person

Kirsty McWalter

  • GeneDX Inc
  • OPKO Health, Inc.

External person

Juan J. Vilchez

  • University of Valencia
  • Hospital Universitario La Fe
  • CIBER - Center for Biomedical Research Network
  • Neuromuscular Reference Centre
  • Centro de Investigación Biomédica en Red

External person

Karen K. Buser

  • University of Minnesota
  • Department of Neurology

External person

D. M. Sproule

  • Columbia University
  • The Pediatric Neuromuscular Clinical Research Network

External person

Julie Parsons

  • University of Colorado Denver

External person

Almuth Caliebe

  • Institute for Human Genetics
  • Kiel University

External person

Imelda Hughes

  • Manchester University NHS Foundation Trust

External person

Angus Lindsay

  • University of Minnesota
  • Divisions of Rehabilitation Science and Physical Therapy
  • Department of Biochemistry
  • Program in Physical Therapy
  • Deakin University
  • Divisions of Physical Therapy and Rehabilitation Science
  • University of Canterbury
  • University of Minnesota Twin Cities

External person

Thomas Sejersen

  • Karolinska Institutet

External person

Ulrike Schara

  • University of Duisburg-Essen

External person

Y. Takeshima

  • Hyogo College of Medicine

External person

Angela Sun

  • University of Washington
  • Department of Pediatrics

External person

Katherine D. Mathews

  • University of Iowa
  • Division of Neurology
  • University of Minnesota
  • Department of Neurology
  • Department of Neurology
  • Spinal Muscular Atrophy Foundation

External person

Janet Quigley

  • Harvard University
  • Department of Neurology
  • Department of Neurology
  • The Pediatric Neuromuscular Clinical Research Network
  • Boston Children's Hospital

External person

Jon Lindstrom

  • University of Pennsylvania
  • National Institutes of Health
  • Department of Neuroscience
  • Clinical Pharmacology Branch
  • Department of Neuroscience
  • University of Pennsylvania Medical Center
  • National Institutes of Health

External person

A. Reghan Foley

  • National Institutes of Health
  • University College London
  • University of Pennsylvania
  • The Pediatric Neuromuscular Clinical Research Network
  • National Institutes of Health
  • The Children's Hospital of Philadelphia

External person

Can Ficicioglu

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

External person

P. Mohassel

  • National Institutes of Health
  • National Institutes of Health

External person

Manuela Pendziwiat

  • Department of Neuropediatrics
  • Kiel University

External person

Kathryn North

  • Children's National Medical Center
  • Children’s Hospital of Westmead
  • Institute for Neuroscience and Muscle Research
  • University of Sydney
  • University of British Columbia
  • Department of Medical Genetics
  • Royal Children's Hospital
  • University of Melbourne
  • Murdoch Children's Research Institute
  • The Children's Hospital at Westmead

External person

Panayiota Trifillis

  • PTC Therapeutics

External person

Alison M. Muir

  • University of Washington
  • Department of Pediatrics

External person

Amy LaCroix

  • University of Washington
  • Department of Pediatrics

External person

Joseph McIntosh

  • PTC Therapeutics
  • PTC Therapeutics

External person

Chiara Fiorillo

  • IRCCS Istituto Giannina Gaslini - Genova

External person

Katherine L. Helbig

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

External person

Rebecca Parad

  • Harvard University
  • Department of Neurology

External person

Haluk Topaloglu

  • Hacettepe University
  • Yeditepe University

External person

Leah Fleming

  • Genetics and Metabolic Clinic
  • St. Luke’s Children’s Hospital System

External person

Giacomi Pietro Comi

  • University of Milan

External person

S. Moore

  • Broad Institute
  • Harvard University
  • University of Iowa
  • Program in Medical and Population Genetics
  • Department of Medicine
  • Center for Mendelian Genomics

External person

Ingo Helbig

  • Kiel University
  • University of Pennsylvania
  • Division of Neurology
  • Department of Neuropediatrics

External person

Anna Mayhew

  • Newcastle University

External person

Hiltrud Muhle

  • Kiel University
  • Department of Neuropediatrics

External person

Anna Kostera-Pruszczyk

  • Medical University of Warsaw
  • Neuromuscular Reference Centre

External person

Kolja Becker

  • Department of Neuropediatrics
  • Kiel University

External person

Duraiswamy Navaneetham

  • University of Minnesota
  • Department of Biochemistry
  • Department of Pharmacology
  • Department of Biochemistry
  • Department of Pharmacology

External person

Kristin G. Monaghan

  • GeneDX Inc
  • OPKO Health, Inc.

External person

Katherine Kim

  • Northwestern University
  • Children's Memorial Hospital

External person

Mary M. Cradock

  • Washington University St. Louis
  • Department of Pediatrics
  • Edward Mallinckrodt
  • Department of Pediatrics

External person

Brigitte Chabrol

  • AP-HM Assistance Publique - Hopitaux de Marseille
  • Aix Marseille Universite

External person

Laurence Viollet-Callendret

  • The Ohio State University
  • Nationwide Children's Hospital

External person

J. Mah

  • Children's National Medical Center
  • University of Calgary
  • Calgary
  • Alberta Children's Hospital
  • Division of Pediatric Neurology
  • Sections of Pediatric Emergency Medicine and Gastroenterology

External person

Jason M. Kelecic

  • Stanford University
  • University of Minnesota
  • Department of Neurology
  • Department of Neurology

External person

Dmitriy Niyazov

  • Ochsner Medical Center - New Orleans
  • Ochsner Health
  • Division of Medical Genetics
  • The University of Queensland
  • Tulane University

External person

Cuixia Tian

  • University of Cincinnati

External person

Ganka Douglas

  • GeneDX Inc
  • GeneDx
  • OPKO Health, Inc.

External person

Jahannaz Dastgir

  • Goryeb Children's Hospital

External person

Alice Basinger

  • Cook’s Children Genetic Center
  • Cook Children's Physician Network
  • Cook Children's Hospital

External person

Isabelle Desguerre

  • Universite Paris 5

External person

K. Carroll

  • Children's National Medical Center
  • Royal Children's Hospital
  • Department of Neurology

External person

S. Donkervoort

  • National Institutes of Health
  • National Institutes of Health

External person

Erik Henricson

  • University of California at Davis

External person

Jean K. Mah

  • University of Calgary

External person

Jenny Thies

  • Children's Hospital and Regional Medical Center Seattle
  • Division of Genetic Medicine
  • Seattle Children's Hospital

External person

Amy E. Pasternak

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

External person

Robert J. Spiegel

  • PTC Therapeutics
  • PTC Therapeutics

External person

Elizabeth Shriber

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

External person

Ricardo Erazo Torricelli

  • Hospital Luis Calvo Mackenna

External person

Charlie O. Wulf

  • Washington University St. Louis
  • Children's National Medical Center
  • Department of Neurology
  • University of Washington
  • Department of Neurology
  • School of Medicine
  • Spinal Muscular Atrophy Foundation

External person

Jong Hee Chae

  • Seoul National University
  • Seoul National University Children's Hospital

External person

W. Wang

  • University of Alabama at Birmingham
  • University of Minnesota
  • Washington Veterans Affairs Medical Center
  • Cornell University
  • Department of Pharmacology
  • Division of Clinical Immunology and Rheumatology
  • Department of Biochemistry
  • Microarray Core Facility
  • Department of Veterans Affairs
  • Department of Pharmacology
  • Department of Biochemistry

External person

Volker Straub

  • Newcastle University
  • Institute of Genetic Medicine
  • John Walton Muscular Dystrophy Research Centre
  • NHS Foundation Trust
  • University of Duisburg-Essen
  • Newcastle upon Tyne Hospitals NHS Foundation Trust

External person

Rachel Westman

  • Genetics and Metabolic Clinic
  • St. Luke’s Children’s Hospital System

External person

Sharon F. Suchy

  • GeneDX Inc
  • Ambry Genetics
  • OPKO Health, Inc.

External person

J. Ben Renfroe

  • Child Neurology Center of Northwest Florida
  • Northwest Florida Clinical Research Group

External person

Zeng Yu Wang

  • University of Minnesota
  • Department of Biochemistry
  • Department of Pharmacology
  • Department of Biochemistry
  • Department of Pharmacology

External person

F. Millan

  • GeneDX Inc
  • GeneDx
  • OPKO Health, Inc.

External person

P. Yun

  • National Institutes of Health

External person

René Santer

  • University of Hamburg
  • University Medical Center Hamburg-Eppendorf
  • Department of Pediatrics

External person

G. G. Sieck

  • Mayo Clinic
  • Mayo College of Medicine
  • Departments of Physiology and Biomedical Engineering
  • Department of Anesthesiology
  • University of Minnesota
  • Anesthesiology and Perioperative Medicine
  • Depts. of Anesthesiology and Physiology
  • Depts. Anesthesiolog Physiol. B.
  • Dept. of Physiology and Biophysics
  • Anesthesia Research
  • Department of Anesthesiology
  • Department of Physiology
  • Anesthesia Research SMH
  • Dept. of Anesthesiology Research
  • Department of Anesthesiology Research
  • Department of Anesthesiology
  • Department of Anesthesiology
  • Dept. of Physiology and Biophysics
  • Departments of Anesthesiology and Physiology and Biophysics
  • Department of Physiology, Biophysics and Molecular Neurosciences
  • Mayo Clinic College of Medicine and Science

External person

Jacinda B. Sampson

  • University of Utah
  • Department of Neurology
  • Minnesota School of Medicine
  • Stanford University

External person

K. de Valle

  • Royal Children's Hospital

External person

Ros Quinlivan

  • University College London

External person

Eva Medico Salsench

  • Erasmus University

External person

J. S. Parboosingh

  • University of Calgary

External person

R. Webster

  • Children's National Medical Center
  • University of Sydney

External person

Jonathan A. Bernstein

  • Stanford University
  • Department of Pediatrics
  • Department of Pediatrics (Cardiology)
  • Department of Genetics

External person

K. R. Chao

  • Broad Institute
  • Center for Mendelian Genomics
  • Harvard University

External person

Michele Mehaffey

  • University of Washington
  • Leidos Biomedical Research, Inc.
  • Leidos Inc

External person

Martin Bialer

  • North Shore LIG Health System
  • Division of Medical Genetics
  • North Shore-Long Island Jewish Health System
  • Northwell Health System

External person

Stéphane Bézieau

  • Universite de Nantes
  • Service de Génétique Médicale
  • Department of Cancer Epidemiology
  • University of South Florida
  • Centre national de la recherche scientifique (CNRS)

External person

Karla Laubenthal

  • Spinal Muscular Atrophy Foundation

External person

S. Kaminski

  • Children's National Medical Center
  • Center for Genetic Medicine

External person

Julie S. Cohen

  • Kennedy Krieger Institute
  • Johns Hopkins University

External person

Sébastien Küry

  • Universite de Nantes
  • Service de Génétique Médicale

External person

Eric Muller

  • Clinical Genetics
  • California Pacific Medical Center

External person

Anya Revah Politi

  • Columbia University
  • Institute for Genomic Medicine

External person

A. Kroksmark

  • Children's National Medical Center
  • Queen Silvia Children's Hospital
  • Department of Pediatrics
  • Queen Sylvia Children's Hospital

External person

Emma Ciafaloni

  • University of Rochester
  • Department of Neurology

External person

Jean Teasley

  • Children's National Medical Center

External person

Sylvie Tuffery-Giraud

  • University of Montpellier
  • Universite de Montpellier

External person

Christopher R. Heier

  • George Washington University

External person

G. Lee

  • Children's National Medical Center

External person

A. Ekstrom

  • Children's National Medical Center

External person

Joanne M. Nguyen

  • The University of Texas Health Science Center at Houston

External person

Louise Bier

  • Columbia University

External person

Chiara Scotton

  • University of Ferrara

External person

Petra Kaufmann

  • Columbia University
  • Eleanor and Lou Gehrig MDA/ALS Research Center
  • National Institutes of Health
  • The Pediatric Neuromuscular Clinical Research Network
  • National Institutes of Health

External person

Hanns Lochmüller

  • Newcastle University
  • Institute of Genetic Medicine
  • University of Ottawa

External person

Richard Webster

  • The Children's Hospital at Westmead
  • Children's National Medical Center
  • Sydney Children's Hospital
  • Columbia University

External person

David Mowat

  • Sydney Children's Hospital
  • University of New South Wales
  • School of Women's and Child Health
  • Department of Medical Genetics

External person

M. Harris

  • Children's National Medical Center
  • Georgetown University
  • Innovation Center for Biomedical Informatics
  • ESAC, Inc.

External person

Dilek Colak

  • King Faisal Specialist Hospital and Research Centre
  • King Faisal Specialist Hospital and Research Centre

External person

M. Cregan

  • Children's National Medical Center
  • University of California at Davis
  • Department of Physical Medicine and Rehabilitation

External person

Stephan Schmidt

  • University of Florida
  • Department of Pharmaceutics
  • University of Florida Health

External person

U. Sterky

  • Children's National Medical Center
  • Queen Silvia Children's Hospital
  • Department of Pediatrics
  • Queen Sylvia Children's Hospital

External person

Xiaolin Zhu

  • Columbia University

External person

Peter Riebling

  • PTC Therapeutics
  • PTC Therapeutics

External person

Amy L. Schneider

  • University of Melbourne
  • Department of Medicine

External person

Christine Moore

  • Division of Medical Genetics
  • Northwell Health System

External person

F. Hu

  • Children's National Medical Center
  • The CINRG Coordinating Center
  • Center for Genetic Medicine
  • George Washington University

External person

Parisa Hemati

  • Columbia University
  • Institute for Genomic Medicine

External person

K. DeValle

  • Children's National Medical Center
  • Royal Children's Hospital
  • Department of Neurology

External person

T. E. Shutt

  • University of Calgary
  • Department of Biochemistry and Molecular Biology
  • Department of Medical Genetics
  • Hotchkiss Brain Institute

External person

Erik Landfeldt

  • Karolinska Institutet
  • ICON Clinical Research

External person

Andreas Roos

  • Newcastle University

External person

Daniela J. Conrado

  • Critical Path Institute
  • Critical Path Institute

External person

A. Töpf

  • Newcastle University
  • Newcastle upon Tyne Hospitals NHS Foundation Trust

External person

K. R. Abrams

  • University of Leicester
  • Dept. of Epidemiol. and Pub. Health

External person

Glenn A. Walter

  • University of Florida

External person

L. Nelson

  • Spinal Muscular Atrophy Foundation

External person

Jay A. Barth

  • Amicus Therapeutics
  • PTC Therapeutics
  • PTC Therapeutics

External person

M. Dermody

  • Children's National Medical Center

External person

Maria Bernadete Dutra De Resende

  • Universidade de Sao Paulo

External person

Gihan Tennekoon

  • University of Michigan
  • Dept. of Neurol. and Neurosci. Prog.
  • University of Pennsylvania
  • The Children's Hospital of Philadelphia

External person

Kathryn A. Miller

  • Imperial College London
  • Department of Epidemiologyand Biostatistics
  • Albany Medical College
  • Division of Genetics

External person

Dina Schneidman-Duhovny

  • School of Computer Science and Engineering
  • Department of Biochemistry
  • Hebrew University of Jerusalem

External person

James Riviello

  • Columbia University
  • Institute for Genomic Medicine

External person

Lynne Kerr

  • University of Utah
  • Shriners Hospitals for Children

External person

K. Carroll

  • Children's National Medical Center

External person

Jackson Burton

  • Critical Path Institute
  • Critical Path Institute

External person

I. Thiffault

  • Children’s Mercy Kansas City
  • University of Missouri at Kansas City

External person

J. Thannhauser

  • Children's National Medical Center
  • Alberta Children's Hospital
  • Division of Pediatric Neurology

External person

Zhong Ren

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

External person

Mika Leinonen

  • Clinical Data Science

External person

Giacomo P. Comi

  • University of Milan
  • Neurology Unit
  • IRCCS Fondazione Ca'Granda – Ospedale Maggiore Policlinico - Milano
  • Dino Ferrari Centre

External person

D. Reedy

  • Children's National Medical Center

External person

Rosamund Wilson

  • Spica Consultants Ltd

External person

Jaya Punetha

  • Children's National Medical Center

External person

V. Viswanathan

  • Children's National Medical Center

External person

M. R. Johnson

  • University of Minnesota
  • Fairview Health Service
  • Department of Neurology and Pediatrics
  • Department of Neurology and Pediatrics
  • Department of Neurology

External person

Maria Pia Protti

  • Vita-Salute San Raffaele University
  • IRCCS San Raffaele Scientific Institute
  • University of Minnesota
  • Department of Biochemistry

External person

Fengming Hsu

  • Center for Genetic Medicine
  • Children's National Medical Center
  • George Washington University

External person

N. Witting

  • University of Copenhagen
  • Department of Neurology

External person

Doris G. Leung

  • Johns Hopkins University

External person

Carrie Stephan

  • University of Iowa
  • Spinal Muscular Atrophy Foundation

External person

Alice Basinger

  • Cook Children's Physician Network

External person

Janey M. Farber

  • University of Minnesota
  • Department of Neurology

External person

C. Saunders

  • Children’s Mercy Kansas City
  • University of Missouri at Kansas City

External person

Ibrahim H. Kaya

  • Alfaisal University
  • College of Medicine Alfaisal University

External person

Susan T. Iannaccone

  • University of Texas Southwestern Medical Center

External person

Kim Coleman

  • Orthocare Innovations

External person

V. Chaudhry

  • Amer. Assoc. Electrodiagnostic Med.
  • Johns Hopkins University
  • Departments of Neurology, Pediatrics, and Physical Medicine and Rehabilitation
  • University of North Carolina

External person

K. Sanchez

  • Children's National Medical Center

External person

Elena Pegoraro

  • University of Padova
  • Department of Neurosciences

External person

Alexandrea Wadley

  • University of Oklahoma
  • Department of Pediatrics
  • University of Oklahoma

External person

Sarah Parisotto

  • Rutgers University-Newark
  • Department of Pediatrics

External person

Sara Vianello

  • University of Padova
  • Department of Neurosciences

External person

V. Lakshmi

  • Children's National Medical Center

External person

L. E. Polgreen

  • University of California Los Angeles
  • Department of Pediatrics
  • University of Minnesota
  • Division of Pediatric Endocrinology
  • Pediatric Endocrinology
  • Division of Pediatric Endocrinology
  • Department of Pediatrics
  • Division of Endocrinology
  • Division of Pediatric Endocrinology and Metabolism
  • Division of Pediatric Endocrinology and Metabolism
  • Department of Pediatrics
  • Division of Endocrinology
  • Division of Pediatric Hematology/Oncology
  • Division of Pediatric Endocrinology and Metabolism
  • Department of Pediatrics
  • The Lundquist Institute
  • University of Minnesota Twin Cities

External person

Geoffrey Wallace

  • The University of Queensland
  • Department of Neurosciences

External person

Yi Wen Chen

  • Children's National Medical Center
  • University of Calgary
  • Children's National Health System
  • George Washington University

External person

Anne Connolly

  • Washington University St. Louis
  • Children's National Medical Center

External person

Giuseppe Vita

  • University of Messina

External person

Robert B. Weiss

  • University of Utah
  • Department of Human Genetics
  • Department of Psychiatry
  • Department of Human Genetics
  • Department of Human Genetics

External person

Meredith K. James

  • Newcastle University

External person

Julia K. Goodrich

  • Harvard University
  • Broad Institute

External person

L. B. Waddell

  • Cerebral Palsy Alliance
  • University of Sydney
  • The Children's Hospital at Westmead

External person

Klaus Romero

  • Critical Path Institute
  • Critical Path Institute

External person

Mamta Giri

  • Children's National Medical Center

External person

M. Ryan

  • Children's National Medical Center
  • Department of Neurology
  • Royal Children's Hospital

External person

Anne M. Connolly

  • Columbus Children's Hospital

External person

Anoud AlBader

  • King Faisal Specialist Hospital and Research Centre
  • King Faisal Specialist Hospital and Research Centre

External person

Tracy Dudding-Byth

  • University of Newcastle

External person

Fengbin Jin

  • PTC Therapeutics

External person

Monika Hiller

  • Leiden University

External person

John Holm

  • University of Minnesota

External person

Giorgio Tasca

  • Fondazione Policlinico Universitario Agostino Gemelli IRCCS
  • Policlinico Universitario Agostino Gemelli
  • Newcastle University
  • Newcastle upon Tyne Hospitals NHS Foundation Trust

External person

J. A. Rosenfeld

  • Signature Genomics
  • Baylor College of Medicine
  • Jan and Dan Duncan Neurological Research Institute
  • PerSeptive Biosystems
  • University of Washington
  • GeneDX Inc
  • Baylor Genetics, LLC
  • OPKO Health, Inc.

External person

Amina Chaouch

  • Salford Royal Foundation Trust
  • Newcastle University
  • Northern Care Alliance NHS Group

External person

Monica Milani

  • University of Minnesota
  • Masonic Cancer Center
  • Abbott Northwestern Hospital
  • Division of Hematology

External person

Craig B. Thompson

  • University of Pennsylvania
  • University of Chicago
  • Howard Hughes Medical Institute
  • Pediatric Oncology Group
  • University of Michigan
  • Stanford University
  • Memorial Sloan-Kettering Cancer Center
  • University of Leicester
  • Abramson Family Cancer Research Institute
  • Department of Cancer Studies
  • Department of Cancer Biology and Genetics
  • Divisions of Preventive Medicine, Hypertension, and Nephrology
  • Gwen Knapp Center
  • Departments of Medicine and Molecular Genetics and Cell Biology
  • Gwen Knapp Ctr. Lupus Immunol. Res.
  • Dept. Molec. Genet. and Cell Biol.
  • Committee on Immunology
  • Department of Medicine
  • Department of Pathology
  • Gwen Knapp Ctr. for Lupus and I.
  • Department of Internal Medicine
  • Department of Pediatrics (Cardiology)
  • Program in Cellular and Molecular Biology
  • Department of Medicine
  • Dept. Molec. Genet. and Cell Biol.
  • Program in Cancer Biology and Genetics
  • Division of Cardiovascular Diseases
  • Department of Pathology
  • Department of Medicine
  • Department of Internal Medicine
  • Abramson Fam. Cancer Res. Institute
  • Department of Medicine
  • Departments of Medicine and Molecular Genetics and Cell Biology
  • Ben May Inst. for Cancer Research
  • University of California at San Diego

External person

Alexie A. Larson

  • Department of Integrative Biology & Physiology
  • University of Minnesota
  • University of Minnesota Twin Cities

External person

Alexander P.A. Stegmann

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

External person

Sanjay Jhawar

  • University of California at Davis
  • Physical Medicine and Rehabilitation

External person

D. Saade

  • National Institutes of Health
  • University of Iowa

External person

Alyson A. Fiorillo

  • George Washington University
  • Children's National Health System

External person

Andrew J. Bradley

  • National Institutes of Health

External person

M. E. Leach

  • Oregon Health and Science University
  • National Institutes of Health

External person

Bertrand Isidor

  • Universite de Nantes
  • Service de Génétique Médicale
  • Hotel Dieu CHU de Nantes
  • Centre national de la recherche scientifique (CNRS)

External person

R. Kaur

  • National Institutes of Health
  • National Institutes of Health

External person

David S. Winlaw

  • Birmingham Women's and Children's NHS Foundation Trust
  • University of Sydney
  • Department of Cardiac Surgery
  • Medical School
  • Heart Centre for Children
  • The Children's Hospital at Westmead

External person

Laila AlQuait

  • King Faisal Specialist Hospital and Research Centre
  • King Faisal Specialist Hospital and Research Centre

External person

Jacqueline Chui

  • Clinical Genetics
  • California Pacific Medical Center
  • Stanford University

External person

A. Gustafsson

  • Children's National Medical Center

External person

Nhu Y. Nguyen

  • Children's National Health System

External person

L. Gauquelin

  • University of Toronto

External person

Kathy J. Swoboda

  • University of Utah
  • Neurology and Pediatrics
  • Harvard University

External person

Raul G. Escobar

  • Pontificia Universidad Católica de Chile

External person

E. X. Albuquerque

  • University of Maryland-Baltimore
  • Universidade Federal do Rio de Janeiro
  • Department of Pharmacology
  • Dept. Pharmacol. and Exp. Therapeut.
  • Institute of Biophysics
  • University of Minnesota
  • Department of Dermatology

External person

Klaas Wierenga

  • University of Oklahoma
  • Department of Pediatrics
  • University of Oklahoma
  • Mayo Clinic Jacksonville FL

External person

Alexander Berg

  • Critical Path Institute
  • Critical Path Institute

External person

Jude Howaidi

  • King Faisal Specialist Hospital and Research Centre
  • King Faisal Specialist Hospital and Research Centre

External person

Aaron B I Rosen

  • University of Washington
  • Department of Pediatrics

External person

Siva Narayanan

  • PTC Therapeutics

External person

Allen Reha

  • PTC Therapeutics
  • PTC Therapeutics

External person

A. Toles

  • Children's National Medical Center

External person

Andrea Barp

  • University of Padova
  • Department of Neurosciences

External person

Renee Renna

  • Children's National Medical Center
  • Washington University St. Louis
  • University of Washington
  • Department of Neurology
  • School of Medicine

External person

James B. Renfroe

  • Northwest Florida Clinical Research Group

External person

Rosaline Quinlivan

  • University College London

External person

Michael T. Howard

  • University of Utah
  • Department of Human Genetics

External person

Sjef de Kimpe

  • BioMarin Pharmaceutical Inc.

External person

Bjarne Udd

  • University of Helsinki
  • Tampere University Hospital
  • Tampere University
  • Vaasa Hospital District

External person

Ingrid Scheffer

  • University of Melbourne
  • Department of Medicine
  • Florey Institute and Department of Pediatrics
  • The Florey Institute of Neuroscience and Mental Health
  • Department of Paediatrics
  • Department of Pediatrics
  • Department of Neurology
  • Department of Neurology
  • Murdoch Children's Research Institute
  • Royal Children's Hospital
  • Florey Institute of Neuroscience and Mental Health
  • Austin Health

External person

Irina Zaharieva

  • University College London

External person

Richard Garman

  • ImmuLogic Pharmaceutical Corporation
  • University of Minnesota
  • ImmuLogic Pharmaceutical

External person

Pierre Corre

  • Universite de Nantes
  • Service de Stomatologie

External person

S. A. Kellermann

  • Abgenix, Inc.
  • University of Minnesota

External person

J. Han

  • Children's National Medical Center
  • University of California at Davis

External person

Raul G. Escobar

  • Pontificia Universidad Católica de Chile

External person

Stefan Böhringer

  • Leiden University
  • Medical Statistics and Bioinformatics

External person

Angelo A. Manfredi

  • Vita-Salute San Raffaele University
  • University of Minnesota
  • Department of Biochemistry
  • IRCCS San Raffaele Scientific Institute
  • Department of Biochemistry
  • Department of Biochemistry

External person

Xénia Latypova

  • Universite de Nantes
  • Service de Génétique Médicale

External person

Zaida Koeks

  • Leiden University

External person

Kwame Anyane-Yeboa

  • Columbia University
  • New York Presbyterian Hospital
  • Department of Pediatrics
  • Department of Pediatrics
  • Department of Paediatrics
  • New York University

External person

Kristin G. Monaghan

  • GeneDX Inc
  • OPKO Health, Inc.

External person

Jane M. Lewis

  • University of Minnesota
  • Department of Urology

External person

C. Campbell

  • Spinal Muscular Atrophy Foundation
  • Western University
  • University of Western Ontario

External person

Wellington S. Cortes

  • Universidade Federal do Rio de Janeiro
  • University of Maryland-Baltimore
  • Dept. Pharmacol. and Exp. Therapeut.
  • Department of Physiological Sciences
  • Universidade Federal Rural do Rio de Janeiro

External person

L. Eliasoph

  • Children's National Medical Center
  • University of Toronto
  • Department of Paediatrics
  • University of Toronto

External person

Julia Anderson

  • Children's National Medical Center

External person

Yetrib Hathout

  • Children's National Medical Center

External person

Pietro Spitali

  • Leiden University

External person

Marni B. Jacobs

  • Children's National Medical Center

External person

Soledad Monges

  • Hospital de Pediatria Prof. Dr. Juan P. Garrahan

External person

S. Specht

  • Newcastle University

External person

Aiping Zhang

  • Children's National Health System

External person

Enrico Bertini

  • IRCCS Ospedale pediatrico Bambino Gesù - Roma

External person

Emily Becraft

  • Stanford University
  • Department of Pediatrics (Cardiology)

External person

C. Wright

  • Children's National Medical Center
  • Alberta Children's Hospital
  • Division of Pediatric Neurology

External person

M. Birkmeier

  • Children's National Medical Center
  • Center for Genetic Medicine

External person

Nicholas S. Pachter

  • Genetic Services of Western Australia
  • King Edward Memorial Hospital
  • University of Western Australia
  • School of Paediatrics and Child Health
  • King Edward Memorial Hospital for Women

External person

Susan O. Riley

  • Harvard University
  • Department of Neurology
  • The Pediatric Neuromuscular Clinical Research Network
  • Boston Children's Hospital

External person

Aswini Panigrahi

  • Children's National Health System

External person

Suzanne DeBrosse

  • Center for Human Genetics
  • Case Western Reserve University

External person

Sophie Colombo

  • Columbia University
  • Institute for Genomic Medicine

External person

Angel Sánchez-Montáñez

  • Autonomous University of Barcelona

External person

Haeri Seol

  • Children's National Medical Center

External person

Mohammed AlMuhaizea

  • Alfaisal University
  • King Faisal Specialist Hospital and Research Centre
  • College of Medicine Alfaisal University
  • King Faisal Specialist Hospital and Research Centre

External person

Alexandra Prufer De Queiroz Campos Araujo

  • Cidade Universitária–Ilha do Fundão
  • Cidade Universitária–Ilha do Fundão

External person

Michael Crowther

  • University of Leicester

External person

B. B. Cummings

  • Broad Institute
  • Center for Mendelian Genomics
  • Harvard University
  • Massachusetts Institute of Technology
  • Massachusetts General Hospital

External person

A. Javed

  • University of Hong Kong

External person

Amy Drilling

  • University of Minnesota

External person

Marcia Margolis

  • Children's National Medical Center
  • University of Minnesota
  • Department of Neurology
  • Department of Neurology
  • University of Minnesota Twin Cities

External person

Rebecca K. Gadeken

  • Washington University St. Louis
  • Department of Neurology

External person

R. Hanson

  • Children’s Mercy Kansas City
  • University of Missouri at Kansas City

External person

Diane M. Dunn

  • University of Utah
  • Department of Human Genetics
  • Department of Human Genetics
  • Department of Human Genetics

External person

Zhengning Lin

  • BioMarin Pharmaceutical Inc.

External person

Cara L. Carty

  • Fred Hutchinson Cancer Research Center
  • George Washington University
  • Division of Public Health Sciences
  • Public Health Sciences Division
  • Center for Translational Science
  • Division of Public Health Sciences
  • Division of Public Health Sciences
  • Women's Health Initiative Clinical Coordinating Center
  • Children's National Medical Center
  • U. Minnesotta
  • PATH
  • WHI
  • Washington State University Misc. Non Branch Campus
  • Washington State University
  • Washington State University
  • Washington State University
  • Washington State University
  • Washington State University
  • Washington State University
  • Division of Public Health Sciences
  • Washington State University
  • Washington State University

External person

A. Cnaan

  • Children's National Medical Center
  • George Washington University
  • University of Calgary
  • The CINRG Coordinating Center
  • Center for Genetic Medicine
  • Department of Pediatrics
  • Department of Epidemiology and Biostatistics

External person

Jane L. Torkelson

  • University of Minnesota
  • University of Minnesota Twin Cities

External person

Abhinandan Batra

  • University of Florida

External person

D. Biggar

  • Children's National Medical Center
  • Fairview Health Service
  • University of Toronto
  • Bloorview-MacMillan Center
  • University of Toronto

External person

A. Meyer

  • Stanford University

External person

Joel Iff

  • Sarepta Therapeutics

External person

Jane Larkindale

  • Critical Path Institute
  • Critical Path Institute

External person

Mitchell Kronenberg

  • University of California Los Angeles
  • La Jolla Institute for Allergy and Immunology
  • University of Minnesota
  • Division of Developmental Immunology
  • Department of Biochemistry
  • Department of Microbiotogy and Immunology
  • Department of Biochemistry

External person

Rawan AlMass

  • King Faisal Specialist Hospital and Research Centre
  • King Faisal Specialist Hospital and Research Centre

External person

Giles Campion

  • BioMarin Pharmaceutical Inc.

External person

M. Hainlen

  • Children’s Mercy Kansas City

External person

Afrodite Lourbakos

  • BioMarin Pharmaceutical Inc.

External person

Amy Harper

  • Carolinas Medical Center

External person

P. Reddappa

  • Children's National Medical Center

External person

Andrew E. Arai

  • National Institutes of Health
  • Cardiovascular and Pulmonary Branch
  • National Institutes of Health

External person

Avital Cnaan

  • George Washington University

External person

B. Tadesse

  • Children's National Medical Center

External person

Erin L. Heinzen

  • Duke University
  • Columbia University
  • Center for Human Genome Variation
  • Institute for Genomic Medicine
  • Institute for Genomic Medicine

External person

Sarah Kim

  • University of Florida
  • Department of Pharmaceutics
  • University of Florida Health

External person

D. Villano

  • Children's National Medical Center
  • Royal Children's Hospital
  • Department of Neurology

External person

C. Scholtes

  • Spinal Muscular Atrophy Foundation

External person

Craig M. McDonald

  • Physical Medicine and Rehabilitation
  • University of California at Davis

External person

Eric P. Hoffman

  • George Washington University
  • Children's National Medical Center
  • Children's National Health System
  • Center for Genetic Medicine
  • Department of Integrative Systems Biology

External person

Helio Pedro

  • Rutgers University-Newark
  • Department of Pediatrics

External person

R. Sabouny

  • University of Calgary

External person

John Brandsema

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

External person

Benjamin Cogné

  • Universite de Nantes
  • Service de Génétique Médicale
  • Centre national de la recherche scientifique (CNRS)

External person

Kim L. Coleman

  • Orthocare Innovations

External person

R. E. Lamont

  • University of Calgary

External person

Betsy Malkus

  • Children's National Medical Center
  • Washington University St. Louis
  • University of Washington
  • Department of Neurology
  • School of Medicine

External person

Craig M. McDonald

  • Physical Medicine and Rehabilitation
  • University of California at Davis

External person

Jia Feng

  • Children's National Medical Center

External person

Katherine D. Mathews

  • University of Iowa
  • Division of Neurology

External person

Slavé Petrovski

  • Ramos Mej́a Hospital
  • University of Melbourne
  • Columbia University
  • Royal Melbourne Hospital
  • Epilepsy Center
  • Departments of Medicine and Neurology
  • Department of Medicine
  • Institute for Genomic Medicine
  • Institute for Genomic Medicine
  • Departments of Epidemiology and Neurology
  • New York University
  • AstraZeneca

External person

J. Vissing

  • University of Copenhagen
  • Department of Neurology

External person

Edwin Guzman

  • Columbia University
  • Institute for Genomic Medicine

External person

Lucia Moiola

  • Vita-Salute San Raffaele University
  • IRCCS San Raffaele Scientific Institute
  • University of Minnesota

External person

Melissa Fischer

  • University of Minnesota

External person

I. Al Khatib

  • University of Calgary

External person

Sally L. Dunwoodie

  • Developmental and Stem Cell Biology Division
  • Victor Chang Cardiac Research Institute
  • University of New South Wales

External person

Tina Duong

  • Stanford University

External person

Aziza Chedrawi

  • King Faisal Specialist Hospital and Research Centre
  • King Faisal Specialist Hospital and Research Centre

External person

Peter Bauer

  • Centogene AG

External person

Sachchida Nand Pandey

  • Children's National Health System

External person

Francina Munell

  • Autonomous University of Barcelona

External person

Molly Grames

  • University of Minnesota
  • Department of Neurology
  • University of Minnesota Twin Cities

External person

Aljouhra AlHargan

  • King Faisal Specialist Hospital and Research Centre
  • King Faisal Specialist Hospital and Research Centre

External person

V. Harris

  • Children's National Medical Center
  • Department of Paediatrics
  • University of Toronto
  • University of Toronto

External person

Abby Bronson

  • Parent Project Muscular Dystrophy

External person

Maurizio Risolino

  • Institute of Human Genetics
  • University of California at San Francisco

External person

Y. So

  • Stanford University
  • Department of Neurology
  • Department of Neurology

External person

S. H.S. Chan

  • University of Hong Kong

External person

R. Kennedy

  • Children's National Medical Center
  • Royal Children's Hospital
  • Department of Neurology

External person

L. Walker

  • Children's National Medical Center

External person

Joseph T C Shieh

  • University of California at San Francisco
  • Institute of Human Genetics
  • Department of Pediatrics
  • Stanford University

External person

Glenn Lopate

  • Children's National Medical Center
  • Washington University St. Louis
  • University of Washington
  • Department of Neurology
  • School of Medicine

External person

G. Yoon

  • University of Toronto
  • Department of Paediatrics
  • University of Toronto

External person

Katherine Mathews

  • University of Iowa

External person

Thomas Besnard

  • Universite de Nantes
  • Service de Génétique Médicale

External person

Laura A. Foster

  • University of Minnesota
  • Harvard University
  • Ann Romney Center for Neurologic Diseases
  • Department of Neurology
  • University of Minnesota Twin Cities
  • Brigham and Women’s Hospital

External person

Justin O. Szot

  • Developmental and Stem Cell Biology Division
  • Victor Chang Cardiac Research Institute
  • University of New South Wales

External person

Jacie Ihinger

  • University of Minnesota

External person

Candace T. Myers

  • University of Washington
  • Department of Pediatrics

External person

Arno D J Maus

  • University of Minnesota
  • Department of Biochemistry
  • Department of Biochemistry

External person

Johanna C. Herkert

  • Department of Genetica
  • University of Groningen

External person

A. Alhander

  • Children's National Medical Center
  • Queen Silvia Children's Hospital
  • Department of Pediatrics
  • Queen Sylvia Children's Hospital

External person

S. Kumar

  • Children's National Medical Center
  • Harvard University

External person