TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development

Author:

Woerden Geeske M.123ORCID,Bos Melanie4ORCID,Konink Charlotte1,Distel Ben125ORCID,Avagliano Trezza Rossella1ORCID,Shur Natasha E.6,Barañano Kristin7,Mahida Sonal7,Chassevent Anna7,Schreiber Allison8,Erwin Angelika L.8ORCID,Gripp Karen W.9,Rehman Fatima1,Brulleman Saskia1,McCormack Róisín1ORCID,Geus Gwynna1ORCID,Kalsner Louisa10,Sorlin Arthur111213ORCID,Bruel Ange‐Line111213ORCID,Koolen David A.4,Gabriel Melissa K.14,Rossi Mari14,Fitzpatrick David R.15,Wilkie Andrew O.M.1617ORCID,Calpena Eduardo16ORCID,Johnson David17,Brooks Alice3,Slegtenhorst Marjon3,Fleischer Julie18,Groepper Daniel18,Lindstrom Kristin19,Innes A. Micheil20ORCID,Goodwin Allison21,Humberson Jennifer22,Noyes Amanda23,Langley Katherine G.23,Telegrafi Aida23,Blevins Amy23,Hoffman Jessica23,Guillen Sacoto Maria J.23,Juusola Jane23,Monaghan Kristin G.23,Punj Sumit23,Simon Marleen24,Pfundt Rolph4,Elgersma Ype12ORCID,Kleefstra Tjitske4

Affiliation:

1. Department of Neuroscience Erasmus MC Rotterdam The Netherlands

2. The ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC Rotterdam The Netherlands

3. Department of Clinical Genetics Erasmus MC Rotterdam The Netherlands

4. Department of Human Genetics Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour Nijmegen The Netherlands

5. Department of Medical Biochemistry Amsterdam UMC, University of Amsterdam Amsterdam The Netherlands

6. Division of Genetics and Metabolism, Rare Disease Institute Children's National Medical Center Washington District of Columbia USA

7. Department of Neurogenetics Kennedy Krieger Institute Baltimore Maryland USA

8. Genomic Medicine Institute, Cleveland Clinic Cleveland Ohio USA

9. Division of Medical Genetics Nemours/A.I. duPont Hospital for Children Wilmington Delaware USA

10. Departments of Neurology and Pediatrics Connecticut Children's Medical Center and University of Connecticut School of Medicine Farmington Connecticut USA

11. UMR1231 GAD, Inserm Université Bourgogne‐Franche Comté Dijon France

12. Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares FHU‐TRANSLAD, CHU Dijon Bourgogne Dijon France

13. Centre de Référence maladies rares «Anomalies du Développement et syndromes malformatifs» Centre de Génétique, FHU‐TRANSLAD, CHU Dijon Bourgogne Dijon France

14. Department of Clinical Diagnostics Ambry Genetics Aliso Viejo California USA

15. MRC Human Genetics Unit, MRC IGMM University of Edinburgh Edinburgh UK

16. Clinical Genetics Group MRC Weatherall Institute of Molecular Medicine, University of Oxford Oxford UK

17. Oxford Craniofacial Unit Oxford University Hospital NHS Foundation Trust, John Radcliffe Hospital Oxford UK

18. Department of Pediatrics SIU School of Medicine Springfield Illinois USA

19. Division of Genetics and Metabolism Phoenix Children's Hospital Phoenix Arizona USA

20. Department of Medical Genetics and Alberta Children's Hospital Research Institute Cumming School of Medicine, University of Calgary Calgary Alberta Canada

21. VCU Medical Center, Clinical Genetics Services Richmond Virginia USA

22. Division of Pediatric Genetics, Department of Pediatrics University of Virginia Medical Center Charlottesville Virginia USA

23. GeneDx Gaithersburg Maryland USA

24. Department of Genetics University Medical Center Utrecht Utrecht The Netherlands

Funder

Nederlandse Organisatie voor Wetenschappelijk Onderzoek

Horizon 2020 Framework Programme

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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