Marisa Simas Mendes

MSC.

20162022

Research activity per year

Network

Elise Ferreira

Person: Academic

Wim Vermeulen

  • Department of Molecular Genetics, 3015 Rotterdam, Netherlands

External person

Valentina Stanley

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

External person

Arjan F. Theil

  • Department of Molecular Genetics, 3015 Rotterdam, Netherlands

External person

Anja Raams

  • Department of Molecular Genetics, 3015 Rotterdam, Netherlands

External person

Christian Staufner

  • Heidelberg University

External person

Tomoo Ogi

  • Department of Genetics, Nagoya, Japan
  • Department of Human Genetics and Molecular Biology, 464-0805 Nagoya, Japan

External person

Heiko Brennenstuhl

  • Heidelberg University

External person

Joseph G. Gleeson

  • Rockefeller University
  • University of California at San Diego
  • Howard Hughes Medical Institute
  • Rady Children's Hospital
  • IRCCS Ospedale Casa Sollievo della Sofferenza - San Giovanni Rotondo (FG)

External person

Rasim Özgür Rosti

  • Istanbul University
  • Rockefeller University
  • University of California at San Diego
  • Rady Children's Hospital

External person

Peter J. van der Spek

  • University Medical Center
  • Erasmus Universiteit Rotterdam

External person

François Feillet

  • Université de Lorraine

External person

Holger Prokisch

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

External person

Sarah Giachetti

  • Istituto di Genetica Molecolare, 27100 Pavia, Italy

External person

Giuseppina Caligiuri

  • Istituto di Genetica Molecolare, 27100 Pavia, Italy

External person

David Sievert

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

External person

Lu-hua Wang

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

External person

Urania Kotzaeridou

  • Heidelberg University

External person

Arnaud Wiedemann

  • Université de Lorraine

External person

Dillon Y. Chen

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

External person

Ayca Dilruba Aslanger

  • Istanbul University
  • Koc University
  • Bezmialem Vakif University

External person

Silvia Bione

  • Istituto di Genetica Molecolare, 27100 Pavia, Italy

External person

Ryan J. Taft

  • University of Queensland
  • Illumina
  • AP-HP
  • Sorbonne Université

External person

Elena Botta

  • Istituto di Genetica Molecolare, 27100 Pavia, Italy

External person

Alan R. Lehmann

  • University of Sussex

External person

Dominic Lenz

  • Heidelberg University

External person

Donata Orioli

  • Istituto di Genetica Molecolare, 27100 Pavia, Italy

External person

Cas Simons

  • University of Queensland
  • Murdoch Children's Research Institute
  • Institute for Molecular Bioscience
  • The Royal Children’s Hospital
  • The Institute for Molecular Bioscience
  • Translational Bioinformatics Research Group
  • Departments of Child Neurology and Neuropathology Metabolic Unit
  • University of Amsterdam

External person

Matthias Griese

  • Ludwig Maximilian University of Munich

External person

Majdi Kara

  • Paediatric Neurology Unit, Tripoli, Libyan Arab Jamahiriya
  • University of Tripoli
  • Tripoli Children's Hospital

External person

Ralf A. Husain

  • Friedrich Schiller University Jena

External person

Matias Wagner

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

External person

Sabine A. Fuchs

  • Utrecht University

External person

Gautam Kok

  • Utrecht University

External person

Yulu Wang

  • Chinese Academy of Agricultural Sciences

External person

Jean-Marie Ravel

  • Université de Lorraine

External person

Alba Torrent-Vernetta

  • Autonomous University of Barcelona
  • CIBER - Center for Biomedical Research Network

External person

Karl Reiter

  • Ludwig Maximilian University of Munich

External person

Roberta Carriero

  • Istituto di Genetica Molecolare, 27100 Pavia, Italy
  • IRCCS Istituto Clinico Humanitas - Rozzano (Milano)

External person

Ya Ming Hou

  • Department of Biochemistry and Molecular Biochemistry, 19107 Philadelphia, United States

External person

Stefan Kölker

  • Heidelberg University Hospital
  • Heidelberg University

External person

Joanna Crawford

  • University of Queensland
  • Institute for Molecular Bioscience

External person

Saskia Biskup

  • Practice for Human Genetics and CeGaT GmbH
  • Praxis für Humangenetik Tübingen
  • CeGaT GmbH

External person

Maurizio Genuardi

  • Catholic University of the Sacred Heart
  • Policlinico Universitario Agostino Gemelli
  • University of Florence

External person

Birgit Kammer

  • Ludwig Maximilian University of Munich

External person

Mirjam Stahl

  • Heidelberg University
  • Charité – Universitätsmedizin Berlin

External person

Hauke S. Hillen

  • Max Planck Institute for Multidisciplinary Sciences
  • University of Goettingen

External person

Muhammad T. Sarwar

  • Khyber Medical University

External person

Marjolaine Willems

  • Departement Genetique Medicale
  • Hôpital Arnaud de Villeneuve

External person

Nagehan Emiralioglu

  • Pediatric Pulmonology, Ankara, Turkey

External person

Saskia B. Wortmann

  • Salzburger Landeskliniken and Paracelsus Medical University
  • Amalia Children’s Hospital
  • Medical University of Vienna
  • Helmholtz Zentrum München - German Research Center for Environmental Health
  • Technical University of Munich
  • Paracelsus Private Medical University
  • United for Metabolic Diseases
  • Radboud University Nijmegen
  • University Children's Hospital

External person

Christel Thauvin-Robinet

  • Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), 21079 Dijon, France
  • Equipe GAD, Dijon, France
  • Université de Bourgogne
  • UMR 6303 CNRS-Université Bourgogne Franche Comté

External person

Jean-Louis Guéant

  • Université de Lorraine

External person

Kether Guerrero

  • McGill University

External person

M. Sattler

  • Technical University of Munich

External person

Damir Musaev

  • University of California at San Diego

External person

Dhanya Yesodharan

  • Amrita Vishwa Vidyapeetham

External person

Alyssa Bianzano

  • Heidelberg University

External person

Wing-Sze Lo

  • IAS HKUST-Scripps R&D Laboratory, Kowloon, Hong Kong
  • Pangu Biopharma, Hong Kong

External person

Jens H. Westhoff

  • Heidelberg University

External person

Stephana Carelli

  • University of Milan

External person

Julien Thevenon

  • Université de Bourgogne
  • UMR 6303 CNRS-Université Bourgogne Franche Comté
  • Université Grenoble Alpes

External person

Natacha Dreumont

  • Université de Lorraine

External person

Johannes Luppe

  • Leipzig University

External person

Hubert J. M. Smeets

  • Maastricht University
  • Radboud University Nijmegen

External person

Paola Goffrini

  • University of Parma

External person

John R. Crawford

  • Department of Neurosciences, 92093 La Jolla, United States
  • Division of Child Neurology, 92123 San Diego, United States
  • Department of Pediatrics, 92093 La Jolla, United States

External person

Amelia Kirby

  • Saint Louis University

External person

Milena Tana

  • Policlinico Universitario Agostino Gemelli

External person

Andreas Hahn

  • Justus Liebig University Giessen

External person

Christopher S. Francklyn

  • University of Vermont

External person

Elke Lainka

  • University of Duisburg-Essen

External person

Jill A. Rosenfeld

  • Baylor College of Medicine
  • Baylor Genetics, LLC
  • BCM

External person

Inga Harting

  • Heidelberg University
  • Heidelberg University Hospital

External person

Clelia Molinario

  • Policlinico Universitario Agostino Gemelli

External person

David Dimmock

  • Rady Children’s Institute for Genomic Medicine, 92123 San Diego, United States

External person

Fanny Mochel

  • Sorbonne Universites
  • Neurometabolic Clinical Research Group
  • Sorbonne Université

External person

Stephanie Efthymiou

  • University College London Hospitals Biomedical Research Centre
  • University College London

External person

Francesca Mattioli

  • Université de Strasbourg

External person

Cheryl Cytrynbaum

  • University of Toronto

External person

Pauline Mosca

  • Université de Lorraine

External person

Boris Keren

  • INSERM U 1127
  • Institut national de la santé et de la recherche médicale

External person

Rachel Kassel

  • University of Alabama at Birmingham

External person

Muhammed Ilyas

  • International Islamic University Islamabad

External person

Zhiwen Xu

  • IAS HKUST-Scripps R&D Laboratory, Kowloon, Hong Kong
  • Pangu Biopharma, Hong Kong

External person

Alanna E. Koehler

  • Department of Neurosciences, 92093 La Jolla, United States

External person

Laurence Faivre

  • Université de Bourgogne
  • Centre Georges-François Leclerc
  • UMR 6303 CNRS-Université Bourgogne Franche Comté
  • Centre de Lutte Contre le Cancer Georges François Leclerc
  • CHU Dijon Bourgogne - Hôpital François Mitterrand
  • National Cancer Genetics Network

External person

Elias Seidl

  • Ludwig Maximilian University of Munich

External person

Katherine M. Christensen

  • Saint Louis University

External person

John Christodoulou

  • Genetic Metabolic Disorders Research Unit
  • University of Sydney
  • Murdoch Children's Research Institute
  • Department of Pediatrics
  • University of Melbourne
  • The Royal Children’s Hospital

External person

Jennifer Friedman

  • Department of Neurosciences, 92093 La Jolla, United States
  • Division of Child Neurology, 92123 San Diego, United States
  • Department of Pediatrics, 92093 La Jolla, United States
  • Rady Children’s Institute for Genomic Medicine, 92123 San Diego, United States
  • University of California at San Diego
  • Rady Children’s Institute for Genomic Medicine

External person

Jonathan A. Bernstein

  • Stanford University
  • Stanford

External person

Catherine A. Groden

  • National Institutes of Health

External person

Vincenzo Salpietro

  • University College London Hospitals Biomedical Research Centre
  • IRCCS Istituto Giannina Gaslini - Genova
  • University of Genoa
  • University College London

External person

Shareef Nahas

  • Rady Children’s Institute for Genomic Medicine, 92123 San Diego, United States

External person

Saskia Biskup

  • CeGaT GmbH

External person

Emer O'Connor

  • University College London

External person

Georg F Hoffmann

  • Heidelberg University Hospital
  • Heidelberg University
  • University of Marburg

External person

Kristen Wigby

  • Department of Pediatrics, 92093 La Jolla, United States
  • Rady Children’s Institute for Genomic Medicine, 92123 San Diego, United States
  • University of California at San Diego

External person

Enrico S. Bertini

  • IRCCS Ospedale pediatrico Bambino Gesù - Roma

External person

Sheela Nampoothiri

  • Amrita Vishwa Vidyapeetham

External person

Florian Gesenhues

  • Ludwig Maximilian University of Munich

External person

Raphael Schiffmann

  • Scott and White Memorial Hospital
  • 4D Molecular Therapeutics

External person

Shereen Ghosh

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

External person

Simone Reu-Hofer

  • University of Würzburg

External person

Frans W. Verheijen

  • Department of Clinical Genetics, 3015 Rotterdam, Netherlands

External person

Carola Schön

  • Ludwig Maximilian University of Munich

External person

Federico Raviglione

  • Child Neuropsychiatry Unit

External person

Sonia Figuccia

  • University of Parma

External person

Meredith S. Wright

  • Rady Children’s Institute for Genomic Medicine, 92123 San Diego, United States

External person

Claudia Weiß

  • Free University of Berlin

External person

Jo M. Vanoevelen

  • Maastricht University
  • CAPHRI

External person

Tina Heinzmann

  • Heidelberg University

External person

Julia Schmidt

  • University of Goettingen

External person

Maria Rodriguez Lopez

  • University College London

External person

Imre F. Schene

  • Utrecht University

External person

Yang Li

  • University Medical Center Groningen
  • University of Groningen

External person

Joëlle Rudinger-Thirion

  • Université de Strasbourg

External person

Frances Elmslie

  • St George's University Hospitals NHS Foundation Trust

External person

Jennifer E. Posey

  • Baylor College of Medicine
  • BCM

External person

Rolph Pfundt

  • Radboud University Medical Center
  • Radboudumc
  • Radboud University Nijmegen
  • Sheba Medical Center at Tel Hashomer

External person

Michael Gerstlauer

  • Augsburg University

External person

Giuseppe Marangi

  • Fondazione Policlinico Universitario A.Gemelli, Italy
  • Università Cattolica Sacro Cuore, Roma, Italy
  • Policlinico Universitario Agostino Gemelli

External person

Beate B. Dörgeloh

  • Hannover Medical School

External person

Olaf Sommerburg

  • Heidelberg University
  • Ludwig Maximilian University of Munich

External person

Shino Shimada

  • Undiagnosed Diseases Program and Office of the Clinical Director, 20892 Bethesda, United States

External person

Megan Boothe

  • University of Alabama at Birmingham

External person

M. A. van Slegtenhorst

  • Erasmus Universiteit Rotterdam

External person

Lauren Badalato

  • Queen's University Kingston

External person

Amber Hildreth

  • Department of Pediatrics, 92093 La Jolla, United States
  • Rady Children’s Institute for Genomic Medicine, 92123 San Diego, United States

External person

Chiara Aiello

  • IRCCS Ospedale pediatrico Bambino Gesù - Roma

External person

Michela Catteruccia

  • IRCCS Ospedale pediatrico Bambino Gesù - Roma

External person

Eric van der Meijden

  • Department of Clinical Genetics, 3015 Rotterdam, Netherlands

External person

Kristin W. Barañano

  • Johns Hopkins University

External person

Amelie Piton

  • Université de Strasbourg

External person

Andreea Manole

  • University College London Hospitals Biomedical Research Centre
  • University College London

External person

Giordano Liberi

  • Istituto di Genetica Molecolare, 27100 Pavia, Italy

External person

Irenaeus F. M. de Coo

  • Medical Center Haaglanden

External person

Alkyoni Athanasiou-Fragkouli

  • University College London

External person

Jagdeep Walia

  • Queen's University Kingston

External person

Alain Sarasin

  • Institut Gustave Roussy, 94805 Villejuif, France

External person

Nicola Dikow

  • Institute of Human Genetics, Heidelberg, Germany
  • Heidelberg University

External person

Alessandra Torraco

  • IRCCS Ospedale pediatrico Bambino Gesù - Roma

External person

May Christine Malicdan

  • Undiagnosed Diseases Program and Office of the Clinical Director, 20892 Bethesda, United States

External person

Henry Houlden

  • University College London

External person

Maria Accadia

  • Pia Fondazione Cardinale Giovanni Panico Hospital

External person

Rebecca Meyer-Schuman

  • Department of Human Genetics, 48109 Ann Arbor, United States

External person

Meino Rohlfs

  • Ludwig Maximilian University of Munich

External person

M. Zenker

  • Otto von Guericke University Magdeburg

External person

Karen Stals

  • Royal Devon & Exeter NHS Foundation Trust

External person

Ulrich Brandl

  • Friedrich Schiller University Jena

External person

Sheng-Jia Lin

  • Oklahoma Medical Research Foundation

External person

Quan Zhen Li

  • University of Texas Southwestern Medical Center
  • University of California at San Diego
  • Rady Children's Hospital

External person

Federico A. Santoni

  • University of Geneva
  • University of Lausanne

External person

Marwan Shinawi

  • Department of Pediatrics, 63110 St. Louis, United States
  • Washington University in St Louis

External person

Emmanuelle Ranza

  • University of Geneva
  • Medigenome

External person

Tom E. Theunissen

  • Maastricht University

External person

Isabelle Thiffault

  • Children's Mercy Hospitals and Clinics
  • University of Missouri at Kansas City
  • Center for Pediatric Genomic Medicine

External person

Jean-Baptiste Rivière

  • Equipe GAD, Dijon, France
  • Child Health and Human Development Program, QC H4A 3J1 Montreal, Canada
  • Department of Human Genetics, QC H3A 1B1 Montreal, Canada
  • UMR 6303 CNRS-Université Bourgogne Franche Comté
  • McGill University

External person

Alejandro Horga

  • University College London

External person

Luca Zardoni

  • Istituto di Genetica Molecolare, 27100 Pavia, Italy

External person

Hannah E. Krawczyk

  • University of Goettingen

External person

Darja Gauck

  • University of Tübingen

External person

Maria Forstner

  • Ludwig Maximilian University of Munich
  • German Center for Lung Research (DZL)

External person

Adeline L. Vanderver

  • University of California at San Francisco
  • University of Pennsylvania

External person

Barbara Vona

  • University of Würzburg
  • University of Tübingen

External person

Rosalba Carrozzo

  • IRCCS Ospedale pediatrico Bambino Gesù - Roma

External person

Denise Horn

  • Institut für Medizinische Genetik
  • Charité – Universitätsmedizin Berlin

External person

Tim Jeske

  • Ludwig Maximilian University of Munich

External person

Francesco Nicita

  • IRCCS Ospedale pediatrico Bambino Gesù - Roma

External person

Helen Griffin

  • University of Cambridge

External person

Grazia Mancini

  • Erasmus Universiteit Rotterdam

External person

Nural Kiper

  • Hacettepe University

External person

Edward E.S. Nieuwenhuis

  • University Medical Center Utrecht

External person

Tawfeg Ben-Omran

  • Clinical and Metabolic Genetics, Doha, Qatar
  • Weill Cornell Medicine-Qatar

External person

Lama Darbelli

  • McGill University

External person

Martina Wilke

  • Leiden University
  • University of Virginia

External person

Giovanni Vento

  • Policlinico Universitario Agostino Gemelli
  • Catholic University of the Sacred Heart

External person

Joy Dean

  • University of Alabama at Birmingham

External person

Sohail A. Paracha

  • Khyber Medical University

External person

Ekim Z. Taskiran

  • Hacettepe University

External person

Gaurav K. Varshney

  • Oklahoma Medical Research Foundation

External person

Simone Kathemann

  • University of Duisburg-Essen

External person

Ruben Portier

  • Medisch Spectrum Twente

External person

Holger Rehmann

  • Utrecht University

External person

Roberto Previtali

  • University of Milan

External person

Meyke Schouten

  • Radboud University Nijmegen

External person

Anna M. Polo

  • Filialpraxis für Humangenetik

External person

Matthew Jennings

  • University of Cambridge

External person

Tobias B. Haack

  • Technical University of Munich
  • Helmholtz Zentrum München - German Research Center for Environmental Health
  • University of Tübingen

External person

Tobias B. Haack

  • University of Tübingen

External person

Liting Zhai

  • IAS HKUST-Scripps R&D Laboratory, Kowloon, Hong Kong

External person

Sébastien Küry

  • CHU de Nantes
  • Nantes Université

External person

Reza Maroofian

  • University of London
  • University College London

External person

Claire Reynolds

  • National Centre for Inherited Metabolic Disorders

External person

Elisabetta Tabolacci

  • Policlinico Universitario Agostino Gemelli

External person

Bader Alhaddad

  • Technical University of Munich

External person

Marjolein Breur

  • Department of Pathology
  • VU University Medical Centre
  • Departments of Child Neurology and Neuropathology Metabolic Unit
  • University of Amsterdam
  • Vrije Universiteit Amsterdam
  • Amsterdam UMC

External person

Magali Frugier

  • Université de Strasbourg

External person

Kshitij Mankad

  • University College London

External person

I. Davagnanam

  • UCL Institute of Neurology
  • University College London

External person

Maximilian Hastreiter

  • Ludwig Maximilian University of Munich

External person

Rob Verdijk

  • Medical Center Haaglanden

External person

Julian Schröter

  • Heidelberg University

External person

Sonal Desai

  • Johns Hopkins University

External person

Frederic Tran Mau-Them

  • UF Innovation en Diagnostic Genomique des Maladies Rares
  • Université de Bourgogne

External person

Bertrand Isidor

  • Nantes Université
  • Institut national de la santé et de la recherche médicale
  • Nantes University Hospital
  • CHU de Nantes

External person

Judith Van Gaalen

  • Department of Human Genetics and Psychiatry
  • Radboud University Nijmegen

External person

Alexa Derksen

  • McGill University

External person

Andrea Accogli

  • Departments of Neurology and Neurosurgery, H3A 0G4 Montreal, Canada
  • IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy

External person

Majdi Kara

  • Department of Pediatrics, Tripoli Children's Hospital, Tripoli, Libya

External person

Christina K. Rapp

  • Ludwig Maximilian University of Munich
  • German Center for Lung Research (DZL)

External person

Travis Moore

  • McGill University

External person

Kiely N. James

  • Department of Neurosciences, 92093 La Jolla, United States

External person

Nuzhat Rana

  • Department of Pediatric Neurology, 60000 Multan, Pakistan
  • Multan Hospital

External person

Molly E. Kuo

  • Cellular and Molecular Biology Program, 48109 Ann Arbor, United States
  • Medical Scientist Training Program, 48109 Ann Arbor, United States

External person

Margreet van den Born

  • On behalf of United for Metabolic Diseases

External person

Faisal Zafar

  • Multan Hospital

External person

Andrea Hanson-Kahn

  • Stanford University
  • Lucille Packard Children's Hospital

External person

Rengang Wang

  • Department of Neurosciences, 92093 La Jolla, United States

External person

Mahmoud Y. Issa

  • Clinical Genetics Department, 12311 Cairo, Egypt

External person

Ellen Crushell

  • National Centre for Inherited Metabolic Disorders, Ireland
  • National Centre for Inherited Metabolic Disorders

External person

Guy Helman

  • University of Queensland
  • The Royal Children’s Hospital

External person

Thomas Longerich

  • Heidelberg University

External person

Alice Goldenberg

  • CHU Hôpitaux de Rouen
  • Université de Rouen

External person

David Coelho

  • Université de Lorraine

External person

Justyna Iwaszkiewicz

  • Swiss Institute of Bioinformatics

External person

Irina Hüning

  • Universitätsklinikum Schleswig-Holstein Campus Lübeck

External person

Antonio Moreno-Galdó

  • University of Barcelona
  • Instituto de Salud Carlos III

External person

Ayca Dilruba Aslanger

  • Bezmialem Vakif University

External person

Shereen G. Ghosh

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

External person

Lisa G. Riley

  • Genetic Metabolic Disorders Research Unit
  • University of Sydney

External person

Geneviève Bernard

  • Child Health and Human Development Program
  • McGill University
  • Department of Neurology and Neurosurgery
  • Department of Pediatrics
  • Department of Medical Genetics
  • McGill University Health Center

External person

Simonetta Costa

  • Policlinico Universitario Agostino Gemelli

External person

Tarek E. I. Omar

  • Department of Pediatrics, 21526 Alexandria, Egypt

External person

Roisin Sullivan

  • University College London

External person

Christel Depienne

  • Institute of Human Genetics
  • University of Duisburg-Essen
  • Sorbonne Universités
  • CNRS
  • INSERM U 1127
  • Institut national de la santé et de la recherche médicale

External person

Ines Brösse

  • Heidelberg University

External person

Jawad Ahmed

  • Khyber Medical University

External person

Frédéric Tran Mau-Them

  • Université de Strasbourg
  • Hôpitaux Universitaires de Strasbourg

External person

Maya Huijberts

  • University of Groningen

External person

Bianca J. van den Bosch

  • CAPHRI
  • Maastricht University

External person

Suzanne C. E. H. Sallevelt

  • CAPHRI
  • Erasmus Universiteit Rotterdam

External person

Pizzino Amy Pizzino

  • University of Pennsylvania

External person

Stephen F. Kingsmore

  • Rady Children’s Institute for Genomic Medicine, 92123 San Diego, United States

External person

Omar Sherbini

  • University of Pennsylvania

External person

Ricardo Harripaul

  • University of Toronto

External person

Marc Polivka

  • Université Paris Cité

External person

Monique Dijsselhof

  • Amsterdam University Medical Centers

External person

Eva Bültmann

  • Hannover Medical School

External person

Richard J Rodenburg

  • Radboud Center for Mitochondrial Medicine
  • Radboud University Nijmegen
  • Illumina

External person

Marie Canton

  • CHU de Nancy

External person

M. Iascone

  • USC Ematologia, ASST PAPA GIOVANNI XXIII, Bergamo, Italy

External person

Benyekhlef Kara

  • Bezmialem Vakif University

External person

Lidia Hussaarts-Odijk

  • Department of Clinical Genetics, 3015 Rotterdam, Netherlands

External person

Frank Brasch

  • Städtischen Kliniken Bielefeld gem. GmbH

External person

Luise A. Schuch

  • Ludwig Maximilian University of Munich
  • German Center for Lung Research (DZL)

External person

Alessia Leidi

  • University of Milan

External person

Lucia Laugwitz

  • University of Tübingen

External person

Anthony Antonellis

  • Cellular and Molecular Biology Program, 48109 Ann Arbor, United States
  • Department of Human Genetics, 48109 Ann Arbor, United States
  • Department of Neurology, 48109 Ann Arbor, United States

External person

Bruce H. R. Wolffenbuttel

  • University of Groningen, University Medical Center Groningen
  • University of Groningen

External person

William A. Gahl

  • National Institutes of Health

External person

Paul Kuentz

  • Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), 21079 Dijon, France
  • Equipe GAD, Dijon, France
  • UMR 6303 CNRS-Université Bourgogne Franche Comté
  • Université de Franche-Comté

External person

Joanne Hughes

  • National Centre for Inherited Metabolic Disorders

External person

Rasim O. Rosti

  • University of California at San Diego

External person

Wendy J. Introne

  • Undiagnosed Diseases Program and Office of the Clinical Director, 20892 Bethesda, United States

External person

Theresa A. Grebe

  • The University of Arizona

External person

Veronica Nobile

  • Policlinico Universitario Agostino Gemelli

External person

Thomas Christian

  • Department of Biochemistry and Molecular Biochemistry, 19107 Philadelphia, United States

External person

Dagan Jenkins

  • University College London

External person

Dominique Caldari

  • CHU de Nantes

External person

Florent Delhommel

  • Helmholtz Zentrum
  • Technical University of Munich

External person

Geneviève Bernard

  • McGill University
  • Montreal Children's Hospital
  • McGill University Health Center

External person

Cecilia Parazzini

  • Ospedale dei Bambini Vittore Buzzi

External person

Rajat Gupta

  • Birmingham Women's and Children's NHS Foundation Trust

External person

Vincenzo Arena

  • Policlinico Universitario Agostino Gemelli
  • Catholic University of the Sacred Heart

External person

James R. Lupski

  • Baylor College of Medicine

External person

Kees Schoonderwoerd

  • Erasmus MC University Medical Center
  • Erasmus Universiteit Rotterdam

External person

Robert Kopajtich

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

External person

Anita Lombardi

  • Consiglio Nazionale delle Ricerche

External person

Kinga Hadzsiev

  • University of Pecs

External person

Dominik Schöndorf

  • Heidelberg University

External person

Luan T. Tran

  • McGill University

External person

Maha S. Zaki

  • Human Genetics and Genome Research Division, 12622 Cairo, Egypt

External person

Malte Spielmann

  • Universitätsklinikum Schleswig-Holstein Campus Lübeck

External person

Rosanna Weksberg

  • University of Toronto

External person

Diclehan Orhan

  • Hacettepe University

External person