Whole exome sequencing in patients with white matter abnormalities-Reference-Cited by-同舟云学术

Whole exome sequencing in patients with white matter abnormalities

Published:2016-05-09 Issue:6 Volume:79 Page:1031-1037
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

Vanderver Adeline¹²³,Simons Cas⁴,Helman Guy¹²^ORCID,Crawford Joanna⁴,Wolf Nicole I.⁵,Bernard Geneviève⁶,Pizzino Amy¹,Schmidt Johanna L.¹²,Takanohashi Asako²,Miller David⁴⁷,Khouzam Amirah⁸,Rajan Vani⁸,Ramos Erica⁸,Chowdhury Shimul⁸,Hambuch Tina⁸,Ru Kelin⁴,Baillie Gregory J.⁴,Grimmond Sean M.⁴⁷,Caldovic Ljubica²,Devaney Joseph²,Bloom Miriam⁹,Evans Sarah H.¹⁰,Murphy Jennifer L. P.¹,McNeill Nathan¹¹,Fogel Brent L.¹²,Schiffmann Raphael¹¹,van der Knaap Marjo S.⁵¹³,Taft Ryan J.³⁴⁸,Gropman Andrea L.,Rosser Tena,Pearl Phillip L.,Fung Eva,Parikh Sumit,Cohen Bruce H.,Reggin James D.,Yalcinkaya Cengiz,Shafrir Yuval,MarcDiFazio ,Freilich Emily,Lourenco Charles M.,Tesi‐Rocha Carolina,Desai Jay,Amartino Hernan,Weaver K. Nicole,Long Valynne,Gambello Michael J.,Cirillo Melissa L.,Kahn Ilana,Gill Deepak,Gieron Maria,de Los Reyes Emily,Lavenstein Bennett,Lanpher Brendan C.,Kurleman Gerhard,

Affiliation:

1. Department of NeurologyChildren's National Medical CenterWashington DC

2. Center for Genetic Medicine ResearchChildren's National Medical CenterWashington DC

3. School of Medicine and Health SciencesGeorge Washington UniversityWashington DC

4. Institute for Molecular BioscienceUniversity of QueenslandSt Lucia Queensland Australia

5. Department of Child NeurologyVU University Medical Center and Neuroscience Campus AmsterdamAmsterdam the Netherlands

6. Departments of PediatricsNeurology, and Neurosurgery, Montreal Children's Hospital, McGill University Health CenterMontreal Quebec Canada

7. University of Melbourne Centre for Cancer ResearchUniversity of MelbourneParkville Victoria Australia

8. Illumina IncSan Diego CA

9. Department of PediatricsChildren's National Medical CenterWashington DC

10. Department of Physical Medicine and RehabilitationChildren's National Medical CenterWashington DC

11. Institute for Metabolic DiseaseBaylor Research InstituteDallas TX

12. Department of NeurologyProgram in Neurogenetics, David Geffen School of Medicine, University of California, Los AngelesLos Angeles CA

13. Department of Functional GenomicsVU UniversityAmsterdam the Netherlands

Funder

Fonds de Recherche du Québec - Santé

Australian Research Council

National Health and Medical Research Council

ZonMw

National Institute of Mental Health

National Institute of Neurological Disorders and Stroke

National Center for Advancing Translational Sciences

Myelin Project

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ana.24650

Reference37 articles.

1. Case definition and classification of leukodystrophies and leukoencephalopathies

2. Invited Article: An MRI-based approach to the diagnosis of white matter disorders

3. A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies

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