Borut Peterlin: Role: ConceptualizationRole: Data curationRole: Formal analysisRole: Writing – original
draftRole: Writing – review & editing
Francesca Gualandi: Role: Data curationRole: Formal analysisRole: Writing – original draft
Ales Maver: Role: Data curationRole: Formal analysisRole: Writing – original draft
Serenella Servidei: Role: Data curationRole: Formal analysisRole: Writing – original draft
Silvère M. van der Maarel:
ORCID: http://orcid.org/0000-0001-8103-711X
Role: Data curationRole: Formal analysisRole: Writing – original draft
Francoise Lamy: Role: Data curationRole: Formal analysisRole: Writing – original draft
Alexander Mejat: Role: Data curationRole: Formal analysisRole: Writing – original draft
Teresinha Evangelista: Role: ConceptualizationRole: Data curationRole: Formal analysisRole: Writing – original
draftRole: Writing – review & editing
Alessandra Ferlini:
ORCID: http://orcid.org/0000-0001-8385-9870
Role: ConceptualizationRole: Data curationRole: Formal analysisRole: Writing – original
draftRole: Writing – review & editing
Alfred S Lewin: Role: Editor
Journal ID (nlm-ta): PLoS One
Journal ID (iso-abbrev): PLoS ONE
Journal ID (publisher-id): plos
Journal ID (pmc): plosone
Title:
PLoS ONE
Publisher:
Public Library of Science
(San Francisco, CA USA
)
ISSN
(Electronic):
1932-6203
Publication date
(Electronic):
18
September
2020
Publication date Collection: 2020
Volume: 15
Issue: 9
Electronic Location Identifier: e0239329
Affiliations
[1
]
Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana,
Slovenia
[2
]
Unit of Medical Genetics, University Hospital Ferrara, Ferrara, Italy
[3
]
Neurophysiopathology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS,
Rome, Italy
[4
]
Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
[5
]
AFM-Téléthon, Evry Cedex, France
[6
]
Neuromuscular Morphology Unit, Myology Institute, GHU Pitié-Salpêtrière, Sorbonne
Université, Paris, France
University of Florida, UNITED STATES
Author notes
Competing Interests: The authors have declared that no competing interests exist.
Author information
Article
Publisher ID:
PONE-D-20-14793
DOI: 10.1371/journal.pone.0239329
PMC ID: 7500674
SO-VID: 0d0ea29f-1342-4bcd-87bd-86d470ce8cdf
Copyright © © 2020 Peterlin et al
License:
This is an open access article distributed under the terms of the
Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided
the original author and source are credited.
The author(s) received no specific funding for this work.
Subject:
Research Article
Subject:
Medicine and Health Sciences
Subject:
Clinical Genetics
Subject:
Genetic Testing
Subject:
Biology and Life Sciences
Subject:
Genetics
Subject:
Genomics
Subject:
Genomic Medicine
Subject:
Genetic Testing
Subject:
Biology and Life Sciences
Subject:
Genetics
Subject:
Human Genetics
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Genetic Testing
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Biology and life sciences
Subject:
Molecular biology
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Molecular biology techniques
Subject:
Sequencing techniques
Subject:
DNA sequencing
Subject:
Next-Generation Sequencing
Subject:
Research and analysis methods
Subject:
Molecular biology techniques
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Sequencing techniques
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DNA sequencing
Subject:
Next-Generation Sequencing
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Biology and Life Sciences
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Computational Biology
Subject:
Genome Analysis
Subject:
Transcriptome Analysis
Subject:
Next-Generation Sequencing
Subject:
Biology and Life Sciences
Subject:
Genetics
Subject:
Genomics
Subject:
Genome Analysis
Subject:
Transcriptome Analysis
Subject:
Next-Generation Sequencing
Subject:
Biology and Life Sciences
Subject:
Genetics
Subject:
Human Genetics
Subject:
Medicine and Health Sciences
Subject:
Diagnostic Medicine
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Biology and Life Sciences
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Genetics
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Genetics of Disease
Subject:
People and Places
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Geographical Locations
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Europe
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Medicine and Health Sciences
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Clinical Genetics
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Biology and Life Sciences
Subject:
Genetics