Mutational analysis of epidermolysis bullosa in Taiwan by whole-exome sequencing complemented by RNA sequencing: a series of 77 patients
Published 2022 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Mutational analysis of epidermolysis bullosa in Taiwan by whole-exome sequencing complemented by RNA sequencing: a series of 77 patients
Authors
Keywords
-
Journal
Orphanet Journal of Rare Diseases
Volume 17, Issue 1, Pages -
Publisher
Springer Science and Business Media LLC
Online
2022-12-28
DOI
10.1186/s13023-022-02605-1
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Whole-Transcriptome Analysis by RNA Sequencing for Genetic Diagnosis of Mendelian Skin Disorders in the Context of Consanguinity
- (2021) Leila Youssefian et al. CLINICAL CHEMISTRY
- Identifying Plectin Isoform Functions through Animal Models
- (2021) Maria J. Castañón et al. Cells
- The epidemiology of epidermolysis bullosa in England and Wales: data from the national epidermolysis bullosa database
- (2021) Gabriela Petrof et al. BRITISH JOURNAL OF DERMATOLOGY
- Novel pathogenic variants in an Indian cohort with epidermolysis bullosa: Expanding the genotypic spectrum
- (2021) Mayank Nilay et al. European Journal of Medical Genetics
- Consensus re‐classification of inherited epidermolysis bullosa and other disorders with skin fragility
- (2020) C. Has et al. BRITISH JOURNAL OF DERMATOLOGY
- Next‐generation sequencing through multigene panel testing for the diagnosis of hereditary epidermolysis bullosa in Chinese population
- (2020) Fuying Chen et al. CLINICAL GENETICS
- Research Techniques Made Simple: Whole-Transcriptome Sequencing by RNA-Seq for Diagnosis of Monogenic Disorders
- (2020) Amir Hossein Saeidian et al. JOURNAL OF INVESTIGATIVE DERMATOLOGY
- Novel insights into the epidemiology of epidermolysis bullosa from the Dutch EB Registry: EB more common than previously assumed?
- (2020) R. Baardman et al. JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
- Epidermolysis bullosa
- (2020) Ajoy Bardhan et al. Nature Reviews Disease Primers
- An overview of the genetic basis of epidermolysis bullosa in Brazil: discovery of novel and recurrent disease‐causing variants
- (2019) Luiza M. Mariath et al. CLINICAL GENETICS
- Graph-based genome alignment and genotyping with HISAT2 and HISAT-genotype
- (2019) Daehwan Kim et al. NATURE BIOTECHNOLOGY
- The Position of Targeted Next-generation Sequencing in Epidermolysis Bullosa Diagnosis
- (2018) C Has et al. ACTA DERMATO-VENEREOLOGICA
- OUP accepted manuscript
- (2018) BIOINFORMATICS
- Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1 ) in a patient with concomitant simplex and junctional epidermolysis bullosa
- (2018) Hassan Vahidnezhad et al. HUMAN MUTATION
- Clinical subtypes and molecular basis of epidermolysis bullosa in Kuwait
- (2018) Arti Nanda et al. INTERNATIONAL JOURNAL OF DERMATOLOGY
- EB2017—Progress in Epidermolysis Bullosa Research toward Treatment and Cure
- (2018) Jouni Uitto et al. JOURNAL OF INVESTIGATIVE DERMATOLOGY
- A comprehensive next-generation sequencing assay for the diagnosis of epidermolysis bullosa
- (2018) Anne W. Lucky et al. PEDIATRIC DERMATOLOGY
- Rare Compound Heterozygous Frameshift Mutations in ALMS1 Gene Identified Through Exome Sequencing in a Taiwanese Patient With Alström Syndrome
- (2018) Meng-Che Tsai et al. Frontiers in Genetics
- Multigene Next-Generation Sequencing Panel Identifies Pathogenic Variants in Patients with Unknown Subtype of Epidermolysis Bullosa: Subclassification with Prognostic Implications
- (2017) Hassan Vahidnezhad et al. JOURNAL OF INVESTIGATIVE DERMATOLOGY
- Epidemiology of Inherited Epidermolysis Bullosa Based on Incidence and Prevalence Estimates From the National Epidermolysis Bullosa Registry
- (2016) Jo-David Fine JAMA Dermatology
- Epidermolysis Bullosa Pruriginosa: A Systematic Review Exploring Genotype–Phenotype Correlation
- (2015) Whan B. Kim et al. AMERICAN JOURNAL OF CLINICAL DERMATOLOGY
- Radiosensitive Hematopoietic Cells Determine the Extent of Skin Inflammation in Experimental Epidermolysis Bullosa Acquisita
- (2015) Hiroaki Iwata et al. JOURNAL OF IMMUNOLOGY
- A recurrent ‘hot spot’ glycine substitution mutation, G2043R in COL7A1, induces dominant dystrophic epidermolysis bullosa associated with intracytoplasmic accumulation of pro-collagen VII
- (2014) Wataru Nishie et al. JOURNAL OF DERMATOLOGICAL SCIENCE
- The Subread aligner: fast, accurate and scalable read mapping by seed-and-vote
- (2013) Yang Liao et al. NUCLEIC ACIDS RESEARCH
- The international dystrophic epidermolysis bullosa patient registry: An online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations
- (2011) Peter C. van den Akker et al. HUMAN MUTATION
- Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex
- (2010) Ken Natsuga et al. HUMAN MUTATION
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started