About the Authors

Nicolas Garnier

Roles Conceptualization, Data curation, Formal analysis, Funding acquisition, Writing – original draft, Writing – review & editing

fla@unife.it (AF); nicolas.garnier@pfizer.com (NG)

Affiliation Pfizer Inc., Collegeville, Pennsylvania, United States of America

Joanne Berghout

Roles Validation

Affiliation Pfizer Inc., Collegeville, Pennsylvania, United States of America

Aldona Zygmunt

Roles Validation, Visualization, Writing – review & editing

Affiliation Pfizer Inc., Collegeville, Pennsylvania, United States of America

Deependra Singh

Roles Supervision, Validation, Writing – review & editing

Affiliation Pfizer Inc., Collegeville, Pennsylvania, United States of America

Kui A. Huang

Roles Validation, Visualization, Writing – review & editing

Affiliation Pfizer Inc., Collegeville, Pennsylvania, United States of America

Waltraud Kantz

Roles Validation, Visualization, Writing – review & editing

Affiliation Pfizer Inc., Collegeville, Pennsylvania, United States of America

Carl Rudolf Blankart

Roles Validation, Visualization, Writing – review & editing

Affiliation KPM Center for Public Management and Swiss Institute for Translational and Entrepreneurial Medicine, University of Bern, Bern, Switzerland

Sandra Gillner

Roles Validation, Visualization, Writing – review & editing

Affiliation KPM Center for Public Management and Swiss Institute for Translational and Entrepreneurial Medicine, University of Bern, Bern, Switzerland

Jiawei Zhao

Roles Validation, Visualization, Writing – review & editing

Affiliation Department of Mathematics and Computer Science, University of Southern Denmark, Odense, Denmark

Richard Roettger

Roles Validation, Visualization, Writing – review & editing

Affiliation Department of Mathematics and Computer Science, University of Southern Denmark, Odense, Denmark

Christina Saier

Roles Validation, Visualization

Affiliation Department of Neuropediatric and Muscle Disorders, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany

Jan Kirschner

Roles Validation, Visualization, Writing – review & editing

Affiliation Department of Neuropediatric and Muscle Disorders, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany

Joern Schenk

Roles Validation, Visualization, Writing – review & editing

Affiliation Takeda Pharmaceuticals International AG, Opfikon, Switzerland

Leon Atkins

Roles Validation, Visualization, Writing – review & editing

Affiliation Takeda Pharmaceuticals International AG, Opfikon, Switzerland

Nuala Ryan

Roles Validation, Visualization, Writing – review & editing

Affiliation Takeda Pharmaceuticals International AG, Opfikon, Switzerland

Kaja Zarakowska

Roles Validation, Visualization, Writing – review & editing

Affiliation Takeda Pharmaceuticals International AG, Opfikon, Switzerland

Jana Zschüntzsch

Roles Validation, Visualization, Writing – review & editing

Affiliation Department of Neurology, University Medical Center Goettingen, Göttingen, Germany

Michela Zuccolo

Roles Validation, Writing – original draft, Writing – review & editing

Affiliation F. Hoffmann La-Roche, Basel, Switzerland

Matthias Müllenborn

Roles Validation, Visualization, Writing – review & editing

Affiliation Novo Nordisk Health Care AG, Switzerland &Novo Nordisk A/S, Kloten, Denmark

Yuen-Sum Man

Roles Validation, Visualization, Writing – review & editing

Affiliation Novo Nordisk Health Care AG, Switzerland &Novo Nordisk A/S, Kloten, Denmark

Liz Goodman

Roles Validation, Visualization, Writing – review & editing

Affiliation University College Dublin, National University of Ireland, Dublin, Ireland

Marie Trad

Roles Validation, Visualization, Writing – review & editing

Affiliation Lysogene, Neuilly-sur-Seine, France

Anne Sophie Chalandon

Roles Validation, Visualization, Writing – review & editing

Affiliation Sanofi, Diegem, Belgium

Stefaan Sansen

Roles Validation, Visualization, Writing – review & editing

Affiliation Sanofi, Diegem, Belgium

Maria Martinez-Fresno

Roles Validation, Visualization, Writing – review & editing

Affiliation Illumina, Cambridge, United Kingdom

Shirlene Badger

Roles Validation, Visualization, Writing – review & editing

Affiliation Illumina, Cambridge, United Kingdom

Rudolf Walther van Olden

Roles Validation, Visualization, Writing – review & editing

Affiliation Novartis Gene Therapies Switzerland GmbH, Risch-Rotkreuz, Switzerland

Robert Rothmann

Roles Validation, Visualization, Writing – review & editing

Affiliation Research Institute AG & Co KG, Digital Human Rights Center, Wien, Austria

Patrick Lehner

Roles Validation, Visualization, Writing – review & editing

Affiliation Research Institute AG & Co KG, Digital Human Rights Center, Wien, Austria

Christof Tschohl

Roles Validation, Visualization, Writing – review & editing

Affiliation Research Institute AG & Co KG, Digital Human Rights Center, Wien, Austria

Ludovic Baillon

Roles Validation, Visualization, Writing – review & editing

Affiliation PTC Therapeutics Switzerland GmbH, Steinhausen, Switzerland

Gulcin Gumus

Roles Validation, Visualization, Writing – review & editing

Affiliation EURORDIS, Paris, France

Edith Gross

Roles Supervision, Validation, Visualization, Writing – review & editing

Affiliation EURORDIS, Paris, France

Rumen Stefanov

Roles Validation, Visualization, Writing – review & editing

Affiliations Department of Social Medicine and Public Health, Faculty of Public Health, Medical University of Plovdiv, Plovdiv, Bulgaria, Bulgarian Association for Promotion of Education and Science, Institute for Rare Disease, Plovdiv, Bulgaria

Georgi Iskrov

Roles Validation, Visualization

Affiliations Department of Social Medicine and Public Health, Faculty of Public Health, Medical University of Plovdiv, Plovdiv, Bulgaria, Bulgarian Association for Promotion of Education and Science, Institute for Rare Disease, Plovdiv, Bulgaria

Ralitsa Raycheva

Roles Validation, Visualization, Writing – review & editing

Affiliations Department of Social Medicine and Public Health, Faculty of Public Health, Medical University of Plovdiv, Plovdiv, Bulgaria, Bulgarian Association for Promotion of Education and Science, Institute for Rare Disease, Plovdiv, Bulgaria

Kostadin Kostadinov

Roles Validation, Visualization, Writing – review & editing

Affiliations Department of Social Medicine and Public Health, Faculty of Public Health, Medical University of Plovdiv, Plovdiv, Bulgaria, Bulgarian Association for Promotion of Education and Science, Institute for Rare Disease, Plovdiv, Bulgaria

Elena Mitova

Roles Validation, Visualization, Writing – review & editing

Affiliation Bulgarian Association for Promotion of Education and Science, Institute for Rare Disease, Plovdiv, Bulgaria

Moshe Einhorn

Roles Validation, Visualization, Writing – review & editing

Affiliation Genoox, Tel Aviv, Israel

Yaron Einhorn

Roles Validation, Visualization, Writing – review & editing

Affiliation Genoox, Tel Aviv, Israel

Josef Schepers

Roles Validation, Visualization, Writing – review & editing

Affiliation Berlin Institute of Health (at) Charité - Universitätsmedizin Berlin, Berlin, Germany

Miriam Hübner

Roles Validation, Visualization, Writing – review & editing

Affiliation Berlin Institute of Health (at) Charité - Universitätsmedizin Berlin, Berlin, Germany

Frauke Alves

Roles Validation, Visualization, Writing – review & editing

Affiliations Translational Molecular Imaging, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany, Clinic of Hematology and Medical Oncology, University Medical Center, Göttingen, Germany, Institute for Diagnostic and Interventional Radiology, University Medical Center, Göttingen, Germany

Rowan Iskandar

Roles Validation, Visualization, Writing – review & editing

Affiliation Swiss Institute for Translational and Entrepreneurial Medicine (sitem-insel), Bern, Switzerland

Rudolf Mayer

Roles Validation, Visualization, Writing – review & editing

Affiliation SBA Research gGmbH, Wien, Austria

Alessandra Renieri

Roles Supervision, Validation, Writing – review & editing

Affiliation Medical Genetics, University of Siena, Siena, Italy

Aneta Piperkova

Roles Validation, Visualization, Writing – review & editing

Affiliation Bulgarian Association for Personalized Medicine, Sofia, Bulgaria

Ivo Gut

Roles Validation, Visualization, Writing – review & editing

Affiliation Centro Nacional de Analisis Genomico, CNAG, Barcelona, Spain

Sergi Beltran

Roles Validation, Visualization, Writing – review & editing

Affiliation Centro Nacional de Analisis Genomico, CNAG, Barcelona, Spain

Mads Emil Matthiesen

Roles Validation, Visualization, Writing – review & editing

Affiliation FindZebra APS, Copenhagen, Denmark

Marion Poetz

Roles Validation, Visualization, Writing – review & editing

Affiliation Department of Strategy and Innovation, Copenhagen Business School, Copenhagen, Denmark

Mats Hansson

Roles Validation, Visualization, Writing – review & editing

Affiliation Uppsala University, Uppsala, Sweden

Regina Trollmann

Roles Validation, Visualization, Writing – review & editing

Affiliation University of Erlangen, Erlangen, Germany

Emanuele Agolini

Roles Conceptualization, Validation, Visualization, Writing – review & editing

Affiliation Bambino Gesu’ Children Hospital, IRCCS, Rome, Italy

Silvia Ottombrino

Roles Validation, Visualization, Writing – review & editing

Affiliation Bambino Gesu’ Children Hospital, IRCCS, Rome, Italy

Antonio Novelli

Roles Validation, Visualization, Writing – review & editing

Affiliation Bambino Gesu’ Children Hospital, IRCCS, Rome, Italy

Enrico Bertini

Roles Validation, Visualization, Writing – review & editing

Affiliation Bambino Gesu’ Children Hospital, IRCCS, Rome, Italy

Rita Selvatici

Roles Validation, Visualization, Writing – review & editing

Affiliation Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy

Marianna Farnè

Roles Validation, Visualization, Writing – review & editing

Affiliation Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy

Fernanda Fortunato

Roles Validation, Visualization, Writing – review & editing

Affiliation Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy

Alessandra Ferlini

Roles Conceptualization, Data curation, Formal analysis, Funding acquisition

fla@unife.it (AF); nicolas.garnier@pfizer.com (NG)

Affiliation Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy

Competing Interests

none.