Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder

Author:

Medico Salsench Eva1ORCID,Maroofian Reza2,Deng Ruizhi1,Lanko Kristina1ORCID,Nikoncuk Anita1,Pérez Belén3,Sánchez-Lijarcio Obdulia3,Ibáñez-Mico Salvador4,Wojcik Antonina5,Vargas Marcelo5,Abbas Al-Sannaa Nouriya6,Girgis Marian Y7,Silveira Tainá Regina Damaceno8,Bauer Peter8,Schroeder Audrey9,Fong Chin-To10,Begtrup Amber11,Babaei Meisam12,Toosi Mehran Beiraghi13,Ashrafzadeh Farah13,Imannezhad Shima13,Doosti Mohammad14,Ahangari Najmeh14,Najarzadeh Torbati Paria14,Ghayoor Karimiani Ehsan141516,Murphy David17,Cali Elisa2,Kaya Ibrahim H18,AlMuhaizea Mohammad1819ORCID,Colak Dilek20,Cardona-Londoño Kelly J21,Arold Stefan T2122,Houlden Henry2ORCID,Bertoli-Avella Aida8,Kaya Namik23ORCID,Barakat Tahsin Stefan1ORCID

Affiliation:

1. Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands

2. Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK

3. Centro de Diagnóstico de Enfermedades Moleculares. Centro de Biología Molecular, Universidad Autonoma de Madrid, CIBER Enfermedades Raras, IdiPAZ, Madrid, Spain

4. Pediatric Neurology Unit, Arrixaca Universitary Hospital, Murcia, Spain

5. Gillette Children's Specialty Healthcare, St. Paul, MN 55101, USA

6. John Hopkins Aramco Health Care, Pediatric Services, Dhahran, Saudi Arabia

7. Pediatric Department, Children's Hospital, Cairo University, Cairo, Egypt

8. CENTOGENE, GmbH, 18055 Rostock, Germany

9. Division of Medical Genetics, University of Rochester Medical Center, Rochester, NY 14642, USA

10. Departments of Pediatrics and of Medicine, University of Rochester Medical Center, Rochester, NY 14642, USA

11. GeneDx, Gaithersburg, MD 20877, USA

12. Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd, Iran

13. Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran

14. Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran

15. Molecular and Clinical Sciences Institute, St. George’s, University of London, London SW17 0RE, UK

16. Innovative Medical Research Center, Mashhad Branch, Islamic Azad University, Mashhad, Iran

17. Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, UK

18. College of Medicine, AlFaisal University, Riyadh, Kingdom of Saudi Arabia

19. Department of Neurosciences, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, Kingdom of Saudi Arabia

20. Department of Biostatistics, Epidemiology and Scientific Computing, KFSHRC, Riyadh, Kingdom of Saudi Arabia

21. King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE), Thuwal 23955-6900, Saudi Arabia

22. Centre de Biologie Structurale, CNRS, INSERM, Université de Montpellier, 34090 Montpellier, France

23. Department of Translational Genomics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Kingdom of Saudi Arabia

Funder

China Scholarship Council

CSC

Erasmus Medical Center, Rotterdam

King Abdullah University of Science and Technology

KFSHRC

King Salman Center for Disability Research

King Abdulaziz City for Science and Technology

Netherlands Organization for Scientific Research

Publisher

Oxford University Press (OUP)

Subject

Neurology (clinical)

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