The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases-Reference-Cited by-同舟云学术

The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases

Published:2022-02-17 Issue: Volume: Page:
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Laurie Steven¹,Piscia Davide¹,Matalonga Leslie¹,Corvo Alberto¹,Garcia Carles¹,Fernandez‐Callejo Marcos¹,Hernandez Carles¹,Luengo Cristina¹,Ntalis Anastasios Papakonstantinou¹²,Protassio Joan¹,Martinez Ines¹,Pico Daniel¹,Thompson Rachel³,Tonda Raul¹,Bayes Monica¹,Bullich Gemma¹,Camps Jordi¹,Paramonov Ida¹,Trotta Jean‐Remi¹,Alonso Angel⁴,Attimonelli Marcella⁵,Béroud Christophe⁶,Bros‐Facer Virginie⁷,Buske Orion⁸,Cañada Andrés⁹,Fernandez Josè Maria¹⁰,Hansson Mats¹¹,Horvath Rita¹²,Jacobsen Julius¹³,Kaliyaperumal Rajaram¹⁴,Lair Severine¹⁵,Licata Luana¹⁶,Lopes Pedro¹⁷,López‐Martin Estrella¹⁸,Mascalzoni Deborah¹¹¹⁹²⁰,Monaco Lucia²¹,Jurado Luis Pérez²²²³²⁴,Posada Manuel²⁵,Rambla Jordi²⁶^ORCID,Rath Ana²⁷,Riess Olaf²⁸,Robinson Peter²⁹^ORCID,Smedley Damian³⁰³¹,Spalding Dylan J.³²,'t Hoen Peter‐Bram³³,Töpf Ana³⁴,Zaharieva Irina³⁵^ORCID,Graessner Holm²⁸³⁶,Gut Ivo³⁷³⁸,Lochmúller Hanns³³⁹⁴⁰,Beltran Sergi¹³⁸⁴¹^ORCID

Affiliation:

1. CNAG‐CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST)

2. Centro Nacional de Análisis Genómico

3. Children's Hospital of Eastern Ontario Research Institute

4. Navarrabiomed; Universidad Publica de Navarra

5. University of Bari Department of Biosciences Biotechnology and Pharmacological Bioscience

6. Marseille Medical Genetics, INSERM UMR_S910; APHM, Hôpital d'Enfants de la Timone, Déparement de Génétique Médicale

7. EURORDIS, Paris

8. Phenotips, Toronto

9. Centro Nacional de Investigaciones Oncologicas

10. Barcelona Supercomputing Center

11. Uppsala Universitet Medicinska fakulteten,

12. University of Cambridge Cambridge Centre for Brain Repair

13. Queen Mary University of London ‐ Charterhouse Square Campus

14. Leiden University Medical Center

15. Interactive Biosoftware, Rouen

16. University of Rome Tor Vergata, Department of Biology

17. IEETA

18. Instituto de Salud Carlos III, Institute of Rare Diseases Research (IIER) & Centre for Biomedical Network Research on Rare Diseases

19. Centre for Research Ethics and Bioethics

20. University of lubeck Institute of biomedicine

21. Fondazione Telethon, Milan

22. Universitat Pompeu Fabra, Unitat de Genètica, Departament de Ciències Experimentals i de la Salut

23. ISCIII, CIBERER

24. Institut Hospital del Mar d'Investigacions Mediques, Servei de Genètica, Hospital del Mar

25. Instituto de Salud Carlos III (ISCIII), SpainRDR and CIBERER, Instituto de Investigación en Enfermedades Raras (IIER)

26. Center for Genomic Regulation, EGA

27. INSERM, US14

28. University of Tubingen Institute for Medical Genetics and Applied Genomics

29. Charite Universitätsmedizin Berlin, The Jackson Laboratory

30. Barts and The London School of Medicine and Dentistry William Harvey Research Institute

31. Queen Mary University of London Barts and The London School of Medicine and Dentistry

32. CSC IT Center for Science Ltd

33. Radboud Universiteit Centre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences

34. The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University

35. UCL Great Ormond Street Institute of Child Health, Dubowitz Neuromuscular Centre

36. University Hospital Tubingen Centre for Rare Diseases

37. Centro Nacional de Análisis Genómico Baldiri Reixac

38. Pompeu Fabra University

39. Ottawa Hospital, Division of Neurology, Department of Medicine

40. University of Ottawa, Brain and Mind Research Institute

41. Universitat de Barcelona, Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia

Publisher

Hindawi Limited

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24353

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