Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss
Published 2019 View Full Article
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Title
Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss
Authors
Keywords
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Journal
BMC Medical Genetics
Volume 20, Issue 1, Pages -
Publisher
Springer Science and Business Media LLC
Online
2019-05-03
DOI
10.1186/s12881-019-0777-z
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- Targeted next generation sequencing in Italian patients with Usher syndrome: phenotype-genotype correlations
- (2017) Chiara M. Eandi et al. Scientific Reports
- Erratum: Guidelines for diagnostic next-generation sequencing
- (2016) Gert Matthijs et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis
- (2016) Naoko Sakuma et al. JOURNAL OF HUMAN GENETICS
- Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation
- (2016) Radulfus WN Slijkerman et al. Molecular Therapy-Nucleic Acids
- Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities
- (2015) Pranav Mathur et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
- A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants
- (2015) Eva Lenassi et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome
- (2011) Stuart Baker et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Audiological findings in 100 USH2 patients
- (2011) C Abadie et al. CLINICAL GENETICS
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- (2011) Thomas Besnard et al. HUMAN MUTATION
- Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children
- (2010) William J Kimberling et al. GENETICS IN MEDICINE
- Genetics and pathological mechanisms of Usher syndrome
- (2010) Denise Yan et al. JOURNAL OF HUMAN GENETICS
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