The Importance of Offering Exome or Genome Sequencing in Adult Neuromuscular Clinics Article Swipe
Laynie Dratch
,
Tanya Bardakjian
,
Kelsey Johnson
,
Nareen Babaian
,
Pedro Gonzalez‐Alegre
,
Lauren Elman
,
Colin Quinn
,
Michael H. Guo
,
Steven S. Scherer
,
Defne A. Amado
·
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.20944/preprints202401.1175.v1
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.20944/preprints202401.1175.v1
Advances in gene-specific therapeutics for patients with neuromuscular disorders (NMDs) have brought increased attention to the importance of genetic diagnosis. Genetic testing practices vary among adult neuromuscular clinics, with multi-gene panel testing currently being the most common approach; follow-up testing using broad-based methods, such as exome or genome sequencing, is less consistently offered. Here, we use five case examples to illustrate the unique ability of broad-based testing to improve diagnostic yield, resulting in identification of SORD-neuropathy, HADHB-related disease, ATXN2-ALS, MECP2 related progressive gait decline and spasticity, and DNMT1-related cerebellar ataxia, deafness, narcolepsy, and hereditary sensory neuropathy type 1E. We describe in each case the technological advantages that enabled identification of the causal gene, and the resultant clinical and personal implications for the patient, demonstrating the importance of offering exome or genome sequencing to adults with NMDs.
Related Topics
Concepts
Exome sequencing
Ataxia
Genetic testing
Exome
Medicine
Disease
Neuromuscular disease
Genetics
Bioinformatics
Biology
Gene
Pathology
Phenotype
Internal medicine
Psychiatry
Metadata
- Type
- preprint
- Language
- en
- Landing Page
- https://doi.org/10.20944/preprints202401.1175.v1
- https://www.preprints.org/manuscript/202401.1175/v1/download
- OA Status
- green
- Cited By
- 2
- References
- 26
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4390953767
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4390953767Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.20944/preprints202401.1175.v1Digital Object Identifier
- Title
-
The Importance of Offering Exome or Genome Sequencing in Adult Neuromuscular ClinicsWork title
- Type
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preprintOpenAlex work type
- Language
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enPrimary language
- Publication year
-
2024Year of publication
- Publication date
-
2024-01-16Full publication date if available
- Authors
-
Laynie Dratch, Tanya Bardakjian, Kelsey Johnson, Nareen Babaian, Pedro Gonzalez‐Alegre, Lauren Elman, Colin Quinn, Michael H. Guo, Steven S. Scherer, Defne A. AmadoList of authors in order
- Landing page
-
https://doi.org/10.20944/preprints202401.1175.v1Publisher landing page
- PDF URL
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https://www.preprints.org/manuscript/202401.1175/v1/downloadDirect link to full text PDF
- Open access
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YesWhether a free full text is available
- OA status
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greenOpen access status per OpenAlex
- OA URL
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https://www.preprints.org/manuscript/202401.1175/v1/downloadDirect OA link when available
- Concepts
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Exome sequencing, Ataxia, Genetic testing, Exome, Medicine, Disease, Neuromuscular disease, Genetics, Bioinformatics, Biology, Gene, Pathology, Phenotype, Internal medicine, PsychiatryTop concepts (fields/topics) attached by OpenAlex
- Cited by
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2Total citation count in OpenAlex
- Citations by year (recent)
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2025: 1, 2024: 1Per-year citation counts (last 5 years)
- References (count)
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26Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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