Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service-Reference-Cited by-同舟云学术

Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service

Published:2019-05-21 Issue:2 Volume:6 Page:241-258
ISSN:2214-3599
Container-title:Journal of Neuromuscular Diseases
language:
Short-container-title:JND

Author:

Westra Dineke¹,Schouten Meyke I.¹,Stunnenberg Bas C.²,Kusters Benno³,Saris Christiaan G.J.²,Erasmus Corrie E.⁴,van Engelen Baziel G.²,Bulk Saskia⁵,Verschuuren-Bemelmans Corien C.⁶,Gerkes E.H.⁶,de Geus Christa⁶,van der Zwaag P.A.⁶,Chan Sophelia⁷,Chung Brian⁷,Barge-Schaapveld Daniela Q.C.M.⁸,Kriek Marjolein⁸,Sznajer Yves⁹,van Spaendonck-Zwarts Karin¹⁰,van der Kooi Anneke J.¹¹,Krause Amanda¹²,Schönewolf-Greulich Bitten¹³,de Die-Smulders Christine¹⁴,Sallevelt Suzanne C.E.H.¹⁴,Krapels Ingrid P.C.¹⁴,Rasmussen Magnhild¹⁵,Maystadt Isabelle¹⁶,Kievit Anneke J.A.¹⁷,Witting Nanna¹⁸,Pennings Maartje¹,Meijer Rowdy¹,Gillissen Christian¹,Kamsteeg Erik-Jan¹,Voermans Nicol C.²

Affiliation:

1. Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands

2. Department of Neurology, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands

3. Department of Pathology, Radboud University Medical Center, Nijmegen, The Netherlands

4. Department of Pediatric Neurology, Radboud University Medical Center, Nijmegen, The Netherlands

5. Service de Génétique Humaine, CHU de Liège, Liège, Belgium

6. Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands

7. Department of Pediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong

8. Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands

9. Center de Génétique Humaine, Clinique Universitaires Saint Luc, Bruxelles, Belgium

10. Department of Clinical Genetics, Amsterdam University Medical Centre, Amsterdam, The Netherlands

11. Department of Neurology, Amsterdam Medical Center, Amsterdam UMC, University of Amsterdam, Neuroscience institute, Amsterdam, The Netherlands

12. Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, The University of the Witwatersrand, Johannesburg, South Africa

13. Department of Clinical Genetics, Rigshospitalet Copenhagen, Denmark

14. Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands

15. Department of Child Neurology and Unit for Congenital and Inherited Neuromuscular Disorders, Oslo University Hospital, Oslo, Norway

16. Center de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium

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

18. Department of Neurology, Rigshospitalet, Copenhagen, Denmark

Publisher

IOS Press

Subject

Neurology (clinical),Neurology

Reference21 articles.

1. A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield;Ankala;Ann Neurol,2015

2. Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned;Ghaoui;JAMA Neurol,2015

3. Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders;Pfundt;Genet Med,2017

4. Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy;Harris;Orphanet J Rare Dis,2017

5. A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies;Monies;Hum Genomics,2016

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