Genome sequencing in persistently unsolved white matter disorders-Reference-Cited by-同舟云学术

Genome sequencing in persistently unsolved white matter disorders

Published:2020-01 Issue:1 Volume:7 Page:144-152
ISSN:2328-9503
Container-title:Annals of Clinical and Translational Neurology
language:en
Short-container-title:Ann Clin Transl Neurol

Author:

Helman Guy¹²^ORCID,Lajoie Bryan R.³,Crawford Joanna²,Takanohashi Asako⁴,Walkiewicz Marzena¹,Dolzhenko Egor³,Gross Andrew M.³,Gainullin Vladimir G.³,Bent Stephen J.⁵,Jenkinson Emma M.⁶,Ferdinandusse Sacha⁷,Waterham Hans R.⁷,Dorboz Imen⁸,Bertini Enrico⁹¹⁰,Miyake Noriko¹¹,Wolf Nicole I.¹²^ORCID,Abbink Truus E. M.¹²^ORCID,Kirwin Susan M.¹³,Tan Christina M.¹³,Hobson Grace M.¹³,Guo Long¹⁴,Ikegawa Shiro¹⁴,Pizzino Amy⁴,Schmidt Johanna L.⁴,Bernard Genevieve¹⁵¹⁶¹⁷,Schiffmann Raphael¹⁸,Knaap Marjo S.¹²¹⁹,Simons Cas¹²^ORCID,Taft Ryan J.³,Vanderver Adeline⁴²⁰^ORCID

Affiliation:

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

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

3. Illumina Inc. San Diego California

4. Division of Neurology Children’s Hospital of Philadelphia Philadelphia Pennsylvania

5. Data61 Commonwealth Scientific and Industrial Research Organisation Brisbane Australia

6. Faculty of Biology, Medicine and Health School of Biological Sciences Division of Evolution and Genomic Sciences University of Manchester Manchester United Kingdom

7. Laboratory Genetic Metabolic Diseases Department of Clinical Chemistry Amsterdam University Medical Centers University of Amsterdam Amsterdam The Netherlands

8. INSERM UMR 1141 DHU PROTECT Université Paris Diderot‐ Sorbonne Paris Cité France

9. Unit of Neuromuscular and Neurodegenerative Disorders Laboratory of Molecular Medicine Bambino Gesu' Children's Hospital Rome Italy

10. Genetics and Rare Diseases Research Division Ospedale Pediatrico Bambino Gesù 00146Rome Italy

11. Department of Human Genetics Yokohama City University Graduate School of Medicine Fukuura, Kanazawa‐ku Yokohama 236‐0004Japan

12. Department of Child Neurology Emma Children’s Hospital Amsterdam University Medical Centers Vrije Universiteit Amsterdam and Amsterdam Neuroscience Amsterdam The Netherlands

13. Molecular Diagnostics Laboratory Nemours Biomedical Research Nemours/Alfred I. duPont Hospital for Children Wilmington Delaware

14. Laboratory of Bone and Joint Diseases RIKEN Center for Integrative Medical Sciences Tokyo Japan

15. Departments of Neurology and Neurosurgery, Pediatrics, and Human Genetics McGill University Montreal Canada

16. Division of Medical Genetics Montreal Children’s Hospital McGill University Health Center Montreal Canada

17. Child Health and Human Development Program Research Institute of the McGill University Health Center Montreal Canada

18. Institute of Metabolic Disease Baylor Scott & White Research Institute Dallas Texas

19. Department of Functional Genomics Amsterdam Neuroscience VU University Amsterdam the Netherlands

20. Perelman School of Medicine University of Pennsylvania Philadelphia Pennsylvania

Funder

Canadian Institutes of Health Research

Publisher

Wiley

Subject

Neurology (clinical),General Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/acn3.50957

Reference24 articles.

1. Whole exome sequencing in patients with white matter abnormalities

2. Update on Leukodystrophies: A Historical Perspective and Adapted Definition

3. Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms

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