1 Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden. angelica.delgado.vega@ki.se.
2 Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden. angelica.delgado.vega@ki.se.
3 Wilhelm Foundation, Brottby, Sweden.
4 Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.
5 Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
6 Science for Life Laboratory, Department of Microbiology, Tumor and Cell Biology, Karolinska Institutet, Stockholm, Sweden.
7 Genomic Medicine Center Karolinska, Karolinska University Hospital, Stockholm, Sweden.
8 Science for Life Laboratory, Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
9 Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.
10 Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
11 Division of Pediatric Genetics, Department of Pediatrics, School of Medicine, Acibadem University, Istanbul, Turkey.
12 ACURARE, Acibadem University Rare Diseases and Orphan Drugs Application and Research Center, Istanbul, Turkey.
13 Department of Medical Genetics, Acibadem University, Istanbul, Turkey.
14 Swallow Design Studio, Tokyo, Japan.
15 Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
16 Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
17 ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, the Netherlands.
18 Rare Care Centre, Perth Children's Hospital, Perth, Western Australia, Australia.
19 Western Australian Register of Developmental Anomalies, Perth, Western Australia, Australia.
20 Undiagnosed Diseases Program, Genetic Health WA, King Edward Memorial Hospital, Perth, Western Australia, Australia.
21 Faculty of Medicine, Australian National University, Perth, Western Australia, Australia.
22 Department of Pediatrics, Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
23 Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
24 Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand.
25 Centre for Computational Medicine, Hospital for Sick Children, Toronto, Ontario, Canada.
26 The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.
27 Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
28 National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.
29 Department of Medical Biochemistry and Cell Biology, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
30 International Laboratory for Human Genome Research, Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México (UNAM), Querétaro, Mexico.
31 Database Center for Life Science, Joint Support-Center for Data Science Research, Research Organization of Information and Systems, Chiba, Japan.
32 Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
33 Casa dos Raros, Porto Alegre, Brazil.
34 Department of Genetics, Federal University of Rio Grande do Sul, Porto Alegre, Brazil.
35 Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil.
36 Dasa Genomica, São Paulo, Brazil.
37 SingHealth Duke-NUS Institute of Precision Medicine, Singapore, Singapore.
38 Telethon Kids Institute, Perth, Western Australia, Australia.
39 School of Electrical Engineering, Computing and Mathematical Sciences, Curtin University, Perth, Western Australia, Australia.
40 Department of Clinical Genetics, Department of Biomedical and Clinical Sciences, Centre for Rare Diseases in Southeast Region of Sweden, Linköping University, Linköping, Sweden.
41 Department of Child Health, Komfo Anokye Teaching Hospital, Kwame Nkrumah University of Science and Technology, Kumasi, Ghana.
42 Department of Medical Biology, School of Medicine, Acibadem University, Istanbul, Turkey.
43 Oxford Nanopore Technologies, Oxford, UK.
44 Department of Anatomy, Genetics and Biomedical Informatics, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.
45 Karachi Grammar School, Karachi, Pakistan.
46 KTH Royal Institute of Technology, Stockholm, Sweden.
47 School of Medicine, New Vision University, Tbilisi, Georgia.
48 Georgian Foundation for Genetic and Rare Diseases, Tbilisi, Georgia.
49 Department of Biology, McGill University, Montreal, Quebec, Canada.
50 Telethon Kids Institute, University of Western Australia, Perth, Western Australia, Australia.
51 Genome Diagnostic, The Hospital for Sick Children, Toronto, Ontario, Canada.
52 Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.
53 Universitat de Barcelona (UB), Barcelona, Spain.
54 Cancer & Stem Cell Biology Program, Duke-NUS Medical School, Singapore, Singapore.
55 SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Singapore.
56 Genome Institute of Singapore, Agency for Science, Technology and Research (A*STAR), Singapore, Singapore.
57 Baylor College of Medicine, One Baylor Plaza, Houston, TX, USA.
58 Department of Medical Sciences, Uppsala University, Uppsala, Sweden.
59 Centre for Human Genetics, University of Kinshasa, Kinshasa, DR, Congo.
60 Faculté de Médecine et d'Odontostomatologie, Université des Sciences, des Techniques et des Technologies de Bamako, Bamako, Mali.
61 Center for Human Genomics and Precision Medicine, University of Wisconsin-Madison, Madison, WI, USA.
62 Department of Pediatrics, University of Wisconsin-Madison, Madison, WI, USA.
63 School of Engineering Science in Chemistry, Biotechnology and Health, KTH Royal Institute of Technology, Stockholm, Sweden.
64 Department of Precision Medicine, Università della Campania Luigi Vanvitelli, Naples, Italy.
65 TIGEM (Telethon Institute of Genetics and Medicine), Naples, Italy.
66 Department of Management and Engineering, Linköping University, Linköping, Sweden.
67 Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden.
68 Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
69 Rare and Undiagnosed Disease Platform-RUDiP, Izmir Biomedicine and Genome Center-IBG, Izmir, Turkey.
70 Medicine, Emory Healthcare, Emory University, Atlanta, GA, USA.
71 Emory Special Diagnostic Services Clinic, Emory University School of Medicine, Atlanta, GA, USA.
72 Sanford Research, Sioux Falls, SD, USA.
73 Sanford Health, Sioux Falls, SD, USA.
74 Department of Pediatrics, Sanford School of Medicine, University of South Dakota, Sioux Falls, SD, USA.
75 International Rare Disease Research Consortium (IRDiRC).
76 Clarion I, London, UK.
77 Department of Mathematics and Computer Science, Faculty of Science, Chulalongkorn University, Bangkok, Thailand.
78 Omics Sciences and Bioinformatics Center, Faculty of Science, Chulalongkorn University, Bangkok, Thailand.
79 SpainUDP, Rare Diseases Research Institute, Instituto de Salud Carlos III, Madrid, Spain.
80 FCSAI, Madrid, Spain.
81 Invitae, San Francisco, CA, USA.
82 Universidad San Francisco de Quito, Quito, Ecuador.
83 The Syndrome Without A Name (SWAN) Clinic, University Hospital of Wales, Cardiff, UK.
84 Department of Neurology, University Hospital of Wales, Cardiff, UK.
85 Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala University Hospital, Uppsala, Sweden.
86 Division of Dermatology and Venereology, Department of Medicine, Solna, Karolinska Institutet, Stockholm, Sweden.
87 National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.
88 Study Centre KOS-Science, Art, Society, Rome, Italy.
89 Illumina Inc, San Diego, CA, USA.
90 Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia.
91 Department of Pediatrics, Givi Zhvania Pediatric Academic Clinic, Tbilisi State Medical University, Tbilisi, Georgia.
92 Center for Undiagnosed and Rare Diseases, Tbilisi State Medical University, Tbilisi, Georgia.
93 Department of Clinical Genetics, University Hospital of Wales, Cardiff, UK.
94 Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
95 Department of Clinical Medicine, Faculty of Medicine and Health Sciences, University of Copenhagen, Copenhagen, Denmark.
96 Department of Human Genetics, Radboud Institute for Health Science, Radboud University Medical Center, Nijmegen, the Netherlands.
97 ERN-ITHACA European Reference Network for Rare Malformation Syndromes, Intellectual and Other Neurodevelopmental Disorders.
98 Department of Clinical Genetics, Robert-Debré Hospital, Paris, France.
99 Bioinformatics and Data Centre, Gothenburg University, Gothenburg, Sweden.
100 Bioinformatics and Data Centre, Sahlgrenska University Hospital, Gothenburg, Sweden.
101 Rare Diseases Center, Zhongshan Hospital, Fudan University, Shanghai, China.
102 China Alliance for Rare Diseases, Beijing, China.
103 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
104 Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA.
105 School of Computation, Information and Technology, Technical University of Munich, Garching, Germany.
106 Rare Disease Ghana Initiative, Accra, Ghana.
107 Division of Medical Genetics, Dept of Pediatrics, University of Utah, Salt Lake City, UT, USA.
108 Division of Women & Child Health, Aga Khan University, Karachi, Pakistan.
109 Department of Pediatrics, Faculty of Medicine, University of Kinshasa, Kinshasa, DR, Congo.
110 African Rare Diseases Initiative.
111 Discipline of Paediatrics and Child Health, Faculty of Medicine and Health, UNSW Sydney, Sydney, New South Wales, Australia.
112 Centre for Clinical Genetics, Sydney Children's Hospitals Network, Randwick, New South Wales, Australia.
113 Ganga Ram Institute of Postgraduate Medical Education and Research (GRIPMER), Sir Ganga Ram Hospital, New Delhi, India.
114 PhenoTips, Toronto, Ontario, Canada.
115 Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden. ann.nordgren@ki.se.
116 Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden. ann.nordgren@ki.se.
117 Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden. ann.nordgren@ki.se.
118 Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden. ann.nordgren@ki.se.