Long read sequencing overcomes challenges in the diagnosis of SORD neuropathy
Published 2022 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Long read sequencing overcomes challenges in the diagnosis of
SORD
neuropathy
Authors
Keywords
-
Journal
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
Volume -, Issue -, Pages -
Publisher
Wiley
Online
2022-02-28
DOI
10.1111/jns.12485
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Biallelic SORD pathogenic variants cause Chinese patients with distal hereditary motor neuropathy
- (2021) Hai-Lin Dong et al. npj Genomic Medicine
- Twelve years of SAMtools and BCFtools
- (2021) Petr Danecek et al. GigaScience
- Biallelic variants in the SORD gene are one of the most common causes of hereditary neuropathy among Czech patients
- (2021) P. Laššuthová et al. Scientific Reports
- An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics
- (2021) Sanjog R. Chintalaphani et al. Acta Neuropathologica Communications
- Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes
- (2020) Andrea Cortese et al. NATURE GENETICS
- Distal hereditary motor neuropathies: Mutation spectrum and genotype–phenotype correlation
- (2020) Marina Frasquet et al. EUROPEAN JOURNAL OF NEUROLOGY
- A Long-Read Sequencing Approach for Direct Haplotype Phasing in Clinical Settings
- (2020) Simone Maestri et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Genetic and Clinical Features in 24 Chinese Distal Hereditary Motor Neuropathy Families
- (2020) Yongzhi Xie et al. Frontiers in Neurology
- Evaluation of SORD mutations as a novel cause of Charcot‐Marie‐Tooth disease
- (2020) Ru‐Ying Yuan et al. Annals of Clinical and Translational Neurology
- Development and validation of a quantitative ultra performance LC® hydrophilic interaction liquid chromatography MS/MS method to measure fructose and sorbitol in human plasma
- (2019) Fumin Li et al. Bioanalysis
- Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A
- (2019) Feifei Tao et al. ANNALS OF NEUROLOGY
- Next-generation sequencing in Charcot–Marie–Tooth disease: opportunities and challenges
- (2019) Menelaos Pipis et al. Nature Reviews Neurology
- Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease
- (2019) Andrea Cortese et al. NEUROLOGY
- Minimap2: pairwise alignment for nucleotide sequences
- (2018) Heng Li BIOINFORMATICS
- Conventional and Single-Molecule Targeted Sequencing Method for Specific Variant Detection in IKBKG while Bypassing the IKBKGP1 Pseudogene
- (2018) Glynis Frans et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Mapping and phasing of structural variation in patient genomes using nanopore sequencing
- (2017) Mircea Cretu Stancu et al. Nature Communications
- Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing
- (2015) Alexander P. Drew et al. Molecular Genetics & Genomic Medicine
- Integrative genomics viewer
- (2011) James T Robinson et al. NATURE BIOTECHNOLOGY
Add your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload NowAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started