Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy

Author:

Helman Guy12ORCID,Zarekiani Parand34,Tromp Samantha A.M.56,Andrews Ashley7,Botto Lorenzo D.7,Bonkowsky Joshua L.8ORCID,Chassevent Anna9,Giorgio Elisa1011,Pippucci Tommaso12,Wei Shen13,Smith‐Hicks Constance1415,Vaula Giovanna16,Willemsen Michèl A.A.P17ORCID,Schimmel Mareike18,Vollert Kurt19,Shimizu Fumitaka20ORCID,Kanda Takashi20,Lynch Matthew2122,Roscioli Tony232425,Taft Ryan J.26,Simons Cas12,Bugiani Marianna34,Kuijpers Taco W.56,van der Knaap Marjo S.42728ORCID

Affiliation:

1. Murdoch Children's Research Institute, The Royal Children's Hospital Victoria Australia

2. Institute for Molecular Bioscience, The University of Queensland Queensland Australia

3. Department of Pathology Amsterdam University Medical Centers, VU University Amsterdam and Amsterdam Neuroscience Amsterdam HV The Netherlands

4. Amsterdam Leukodystrophy Center Emma Children's Hospital, Amsterdam University Medical Centers Amsterdam DD The Netherlands

5. Department of Pediatric Immunology, Rheumatology and Infectious Disease Emma Children's Hospital, Amsterdam University Medical Centers, Academic Medical Center, University of Amsterdam Amsterdam DD The Netherlands

6. Department of Experimental Immunology Amsterdam Institute for Infection and Immunity, Amsterdam University Medical Centers, University of Amsterdam Amsterdam DD The Netherlands

7. Division of Medical Genetics University of Utah Salt Lake City UT

8. Division of Pediatric Neurology, Department of Pediatrics University of Utah Salt Lake City UT

9. Division of Neurogenetics Kennedy Krieger Institute Baltimore Maryland

10. Department of Molecular Medicine University of Pavia Pavia Italy

11. Medical Genetics Unit IRCCS Mondino Foundation Pavia Italy

12. U.O. Genetica Medica IRCCS Azienda Ospedaliero ‐ Universitaria di Bologna, Policlinico di Sant'Orsola Bologna Italy

13. Clinical Genome Sequencing Laboratory Mayo Clinic Rochester MN

14. The Hugo Moser Research Institute at Kennedy Krieger Baltimore MD

15. Department of Neurology Johns Hopkins University School of Medicine Baltimore MD

16. Department of Neuroscience Azienda Ospedaliera‐Universitaria Città della Salute e della Scienza Turin Italy

17. Department of Pediatrics Amalia Children's Hospital, Radboud University Medical Center Nijmegen The Netherlands

18. Division of Pediatric Neurology Childrens's Hospital, University Hospital Augsburg Augsburg Germany

19. Department of Diagnostic Radiology and Neuroradiology ‐ Pediatric Radiology Section University Hospital Augsburg Augsburg Germany

20. Department of Neurology and Clinical Neuroscience Yamaguchi University Graduate School of Medicine Ube Japan

21. Neurosciences Unit Queensland Children's Hospital Brisbane Australia

22. Queensland Lifespan Metabolic Medicine Service Queensland Children's Hospital Brisbane Australia

23. New South Wales Health Pathology Randwick Genomics Laboratory Sydney New South Wales Australia

24. Centre for Clinical Genetics Sydney Children's Hospital Sydney New South Wales Australia

25. Neuroscience Research Australia (NeuRA) University of New South Wales Sydney New South Wales Australia

26. Illumina Inc. San Diego California

27. Department of Child Neurology Emma Children's Hospital, Amsterdam University Medical Centers, VU University Amsterdam and Amsterdam Neuroscience Amsterdam The Netherlands

28. Department of Functional Genomics Center for Neurogenomics and Cognitive Research, VU University Amsterdam The Netherlands

Funder

ZonMw

State Government of Victoria

University of Utah

ARUP Laboratories

University of Queensland

Publisher

Wiley

Subject

Neurology (clinical),Neurology

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