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Wolfgang Högler
Wolfgang Högler
Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Linz, Austria
Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK
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Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK
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Agnès Linglart
Agnès Linglart
AP-HP, Hôpital Bicêtre Paris Saclay, service d’endocrinologie et diabète de l’enfant, DMU 3 SEA, centre de référence des maladies rares du métabolisme du calcium et du phosphate, filière OSCAR; Université de Paris-Saclay INSERM U1185, Hôpital Bicêtre, Le Kremlin-Bicêtre, France
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Anna Petryk
Anna Petryk
Alexion, AstraZeneca Rare Disease, Boston, Massachusetts, USA
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Priya S Kishnani
Priya S Kishnani
Duke University Medical Center, Durham, North Carolina, USA
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Lothar Seefried
Lothar Seefried
University of Würzburg, Würzburg, Germany
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Shona Fang
Shona Fang
Alexion, AstraZeneca Rare Disease, Boston, Massachusetts, USA
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Cheryl Rockman-Greenberg
Cheryl Rockman-Greenberg
University of Manitoba, Winnipeg, Manitoba, Canada
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Keiichi Ozono
Keiichi Ozono
Osaka University, Suita, Osaka, Japan
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Kathryn Dahir
Kathryn Dahir
Vanderbilt University Medical Center, Nashville, Tennessee, USA
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Gabriel Ángel Martos-Moreno
Gabriel Ángel Martos-Moreno
Departments of Pediatrics and Pediatric Endocrinology Hospital Infantil Universitario Niño Jesús, IIS La Princesa, Universidad Autónoma de Madrid, CIBERobn, ISCIII, Madrid, Spain
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up to December 7, 2020, were included in this analysis. As previously described, all aspects of the Global HPP Registry are sponsored by Alexion, AstraZeneca Rare Disease (Boston, MA, USA), and the registry is monitored by a scientific advisory
Violeta Iotova
Violeta Iotova
Department of Pediatrics, Medical University of Varna, Varna, Bulgaria
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Camilla Schalin-Jäntti
Camilla Schalin-Jäntti
Department of Endocrinology, Abdominal Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
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Charlotte Van Beuzekom
Charlotte Van Beuzekom
Department of Endocrinology and Metabolism, Amsterdam University Medical Center, Amsterdam, the Netherlands
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Petra Bruegmann
Petra Bruegmann
Department of Medicine, Leiden University Medical Center, Leiden, the Netherlands
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Manuela Broesamle
Manuela Broesamle
Department of Medicine, Leiden University Medical Center, Leiden, the Netherlands
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Olaf Hiort
Olaf Hiort
Department of Paediatric and Adolescent Medicine, Division of Paediatric Endocrinology and Diabetes, University of Lübeck, Lübeck, Germany
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Alberto M Pereira
Alberto M Pereira
Department of Endocrinology and Metabolism, Amsterdam University Medical Center, Amsterdam, the Netherlands
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Introduction The European Reference Network on Rare Endocrine Conditions (Endo-ERN) was sufficiently installed in 2017 together with 23 other European reference networks (ERNs) for rare diseases (RDs). The organization and governance of Endo
Luca Persani
Luca Persani
Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy
Department of Endocrinology and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy
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Department of Endocrinology and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy
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Martine Cools
Martine Cools
Departments of Internal Medicine and Paediatrics and of Paediatric Endocrinology, Ghent University Hospital, Ghent, Belgium
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Stamatina Ioakim
Stamatina Ioakim
Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy
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S Faisal Ahmed
S Faisal Ahmed
Developmental Endocrinology Research Group, School of Medicine, Dentistry & Nursing, University of Glasgow, Glasgow, United Kingdom
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Silvia Andonova
Silvia Andonova
National Genetic Laboratory, UHOG “Maichin dom", Medical University, Sofia, Bulgaria
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Magdalena Avbelj-Stefanija
Magdalena Avbelj-Stefanija
Department for Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia
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Federico Baronio
Federico Baronio
Pediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy
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Jerome Bouligand
Jerome Bouligand
Université Paris-Saclay, Inserm UMRS1185 & Service de Génétique Moléculaire, Pharmacogénétique et Hormonologie, Hôpital Bicêtre, France
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Hennie T Bruggenwirth
Hennie T Bruggenwirth
Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands
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Justin H Davies
Justin H Davies
Faculty of Medicine, University of Southampton, Southampton, United Kingdom
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Elfride De Baere
Elfride De Baere
Departments of Internal Medicine and Paediatrics and of Paediatric Endocrinology, Ghent University Hospital, Ghent, Belgium
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Iveta Dzivite-Krisane
Iveta Dzivite-Krisane
Children’s University Hospital, Riga, Latvia
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Paula Fernandez-Alvarez
Paula Fernandez-Alvarez
Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcelona, Spain
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Alexander Gheldof
Alexander Gheldof
Center for Medical Genetics, Vrije Universiteit Brussel, Universitair Ziekenhuis Brussel, Brussels, Belgium
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Claudia Giavoli
Claudia Giavoli
Unit of Endocrinology, Fondazione IRCCS Ospedale Maggiore Policlinico, Milano, Italy
Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy
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Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy
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Claus H Gravholt
Claus H Gravholt
Departments of Endocrinology, of Clinical Medicine and of Molecular Medicine, Aarhus University, Aarhus, Denmark
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Olaf Hiort
Olaf Hiort
University Hospital Schleswig-Holstein, Campus Lübeck, and University of Lübeck, Lübeck, Germany
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Paul-Martin Holterhus
Paul-Martin Holterhus
University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany
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Anders Juul
Anders Juul
Departments of Growth and Reproduction and of Clinical Medicine, Copenhagen University Hospital – Rigshospitalet, Copenhagen, Denmark
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Csilla Krausz
Csilla Krausz
Endocrinology and Andrology Units, University Hospital of Careggi and Department of Experimental and Clinical Biomedical Sciences "Mario Serio", University of Florence, Florence, Italy
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Kristina Lagerstedt-Robinson
Kristina Lagerstedt-Robinson
Department of Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden
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Ruth McGowan
Ruth McGowan
Developmental Endocrinology Research Group, School of Medicine, Dentistry & Nursing, University of Glasgow, Glasgow, United Kingdom
West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, United Kingdom
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West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, United Kingdom
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Uta Neumann
Uta Neumann
Charité Medicine University, Berlin, Germany
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Antonio Novelli
Antonio Novelli
Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital IRCCS, Rome, Italy
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Xavier Peyrassol
Xavier Peyrassol
Universitè Libre di Bruxelles, Brussels, Belgium
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Leonidas A Phylactou
Leonidas A Phylactou
Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
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Julia Rohayem
Julia Rohayem
University Hospital Münster, Munster, Germany
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Philippe Touraine
Philippe Touraine
Center for Rare Endocrine and Gynecological Disorders, Department of endocrinology and reproductive Medicine, Hospital Pitié Salpêtrière, Paris, France
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Dineke Westra
Dineke Westra
Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands
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Valeria Vezzoli
Valeria Vezzoli
Department of Endocrinology and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy
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Raffaella Rossetti
Raffaella Rossetti
Department of Endocrinology and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy
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relied on NGS technology but chose not to participate for other reasons. In conclusion, these data illustrate how clinical genetic diagnostics in the field of rare diseases, more specifically unexplained disorders of SDM, are currently performed across
Danielle Christine Maria van der Kaay
Danielle Christine Maria van der Kaay
Erasmus University Medical Center, Department of Pediatrics, Subdivision of Endocrinology, Rotterdam, Netherlands
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Anne Rochtus
Anne Rochtus
Department of Pediatric Endocrinology, University Hospitals Leuven, Leuven, Belgium
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Gerhard Binder
Gerhard Binder
University Children’s Hospital, Pediatric Endocrinology, University of Tübingen, Tübingen, Germany
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Ingo Kurth
Ingo Kurth
Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany
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Dirk Prawitt
Dirk Prawitt
Center for Paediatrics and Adolescent Medicine, University Medical Center, Mainz, Germany
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Irène Netchine
Irène Netchine
Sorbonne Université, Centre de Recherche Saint-Antoine, INSERM, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France
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Gudmundur Johannsson
Gudmundur Johannsson
Department of Internal Medicine and Clinical Nutrition, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
Department of Endocrinology at Sahlgrenska University Hospital, Gothenburg, Sweden
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Department of Endocrinology at Sahlgrenska University Hospital, Gothenburg, Sweden
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Anita C S Hokken-Koelega
Anita C S Hokken-Koelega
Erasmus University Medical Center, Department of Pediatrics, Subdivision of Endocrinology, Rotterdam, Netherlands
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Miriam Elbracht
Miriam Elbracht
Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany
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Thomas Eggermann
Thomas Eggermann
Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany
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. Genetics in Medicine 2017 19 1055 – 1063 . ( https://doi.org/10.1038/gim.2017.1 ) 8 Wright CF FitzPatrick DR Firth HV . Paediatric genomics: diagnosing rare disease in children . Nature Reviews: Genetics 2018 19 325. ( https://doi.org/10.1038/nrg
Christine Poitou
Christine Poitou
Assistance Publique-Hôpitaux de Paris, Centre de référence Maladies Rares (PRADORT, Syndrome de Prader-Willi et autres formes rares d’obésité avec troubles du comportement alimentaire), Service de Nutrition, Hôpital Pitié-Salpêtrière, Paris, France
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Anthony Holland
Anthony Holland
Department of Psychiatry, University of Cambridge, UK
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Charlotte Höybye
Charlotte Höybye
Department of Endocrinology and Department of Molecular Medicine and Surgery, Karolinska University Hospital and Karolinska Institute, Stockholm, Sweden
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Laura C G de Graaff
Laura C G de Graaff
Center for Adults with Rare Genetic Syndromes, Department of Internal Medicine, Division of Endocrinology, Erasmus Medical Center, University Medical Center Rotterdam, Rotterdam, The Netherlands
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Sandrine Bottius
Sandrine Bottius
Assistance Publique-Hôpitaux de Paris, Centre de référence Maladies Rares (PRADORT, Syndrome de Prader-Willi et autres formes rares d’obésité avec troubles du comportement alimentaire), Service de Nutrition, Hôpital Pitié-Salpêtrière, Paris, France
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Berit Otterlei
Berit Otterlei
Landsforeningen for Prader-Willis Syndrom Hiltonåsen, Slependen, Norway
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Maithé Tauber
Maithé Tauber
Centre de référence Maladies Rares (PRADORT, Syndrome de Prader-Willi et autres formes rares d’obésité avec troubles du comportement alimentaire), Service d’Endocrinologie, Obésités, Maladies Osseuses, Génétique et Gynécologie Médicale, Hôpital des Enfants, Toulouse, France
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-Willi syndrome . Orphanet Journal of Rare Diseases 2017 12 118. ( https://doi.org/10.1186/s13023-017-0673-6 ) 2 Tauber M Hoybye C . Endocrine disorders in Prader-Willi syndrome: a model to understand and treat hypothalamic dysfunction . Lancet. Diabetes
Lukas Plachy
Lukas Plachy
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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Lenka Petruzelkova
Lenka Petruzelkova
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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Petra Dusatkova
Petra Dusatkova
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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Klara Maratova
Klara Maratova
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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Dana Zemkova
Dana Zemkova
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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Lenka Elblova
Lenka Elblova
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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Vit Neuman
Vit Neuman
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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Stanislava Kolouskova
Stanislava Kolouskova
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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Barbora Obermannova
Barbora Obermannova
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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Marta Snajderova
Marta Snajderova
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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Zdenek Sumnik
Zdenek Sumnik
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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Jan Lebl
Jan Lebl
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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Stepanka Pruhova
Stepanka Pruhova
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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.1038/nrendo.2016.138 ) 34 Van Der BI . Noonan syndrome . Orphanet Journal of Rare Diseases 2007 2 1 . 35 Gibson BG & Briggs MD . The aggrecanopathies; An evolving phenotypic spectrum of human genetic skeletal diseases . Orphanet Journal of Rare
Nathalia G B P Ferreira
Nathalia G B P Ferreira
Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil
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Joao L O Madeira
Joao L O Madeira
Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil
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Peter Gergics
Peter Gergics
Laboratório de Sequenciamento em Larga Escala (SELA), Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, Brazil
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Renata Kertsz
Renata Kertsz
Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil
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Juliana M Marques
Juliana M Marques
Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil
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Nicholas S S Trigueiro
Nicholas S S Trigueiro
Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil
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Anna Flavia Figueredo Benedetti
Anna Flavia Figueredo Benedetti
University of Michigan Medical School, Department of Human Genetics, Ann Arbor, Michigan, United States
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Bruna V Azevedo
Bruna V Azevedo
Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil
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Bianca H V Fernandes
Bianca H V Fernandes
Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil
Universidade de São Paulo, Zebrafish Facility, São Paulo, São Paulo, Brazil
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Universidade de São Paulo, Zebrafish Facility, São Paulo, São Paulo, Brazil
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Debora D Bissegatto
Debora D Bissegatto
Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil
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Isabela P Biscotto
Isabela P Biscotto
Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil
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Qing Fang
Qing Fang
Laboratório de Sequenciamento em Larga Escala (SELA), Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, Brazil
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Qianyi Ma
Qianyi Ma
Laboratório de Sequenciamento em Larga Escala (SELA), Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, Brazil
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Asye B Ozel
Asye B Ozel
Laboratório de Sequenciamento em Larga Escala (SELA), Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, Brazil
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Jun Li
Jun Li
Laboratório de Sequenciamento em Larga Escala (SELA), Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, Brazil
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Sally A Camper
Sally A Camper
Laboratório de Sequenciamento em Larga Escala (SELA), Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, Brazil
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Alexander A L Jorge
Alexander A L Jorge
Unidade de Endocrinologia Genética, Laboratório de Endocrinologia Celular e Molecular LIM25, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil
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Berenice B Mendonça
Berenice B Mendonça
Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil
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Ivo J P Arnhold
Ivo J P Arnhold
Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil
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Luciani R Carvalho
Luciani R Carvalho
Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil
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MNP de Arruda VYN , Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases . American Journal of Medical Genetics, Part C 2020 184 955 – 964 .. ( https://doi.org/10.1002/ajmg.c.31860 ) 12 Miller
Yijun Tang
Yijun Tang
Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
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Yao Chen
Yao Chen
Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
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Jiayi Wang
Jiayi Wang
Department of Urology, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
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Qianwen Zhang
Qianwen Zhang
Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
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Yirou Wang
Yirou Wang
Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
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Yufei Xu
Yufei Xu
Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
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Xin Li
Xin Li
Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
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Jian Wang
Jian Wang
International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
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Xiumin Wang
Xiumin Wang
Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
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that could be construed as potential conflicts of interest. Funding This work was supported by the National Nature Science Foundation of China (82170910), Shanghai Clinical Medical Research Center for Children’s Rare Diseases (20MC1920400
