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Marta Dineiro et al.
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MutationDistiller: user-driven identification of pathogenic DNA variants
Daniela Hombach et al.
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M. Ragan Hart et al.
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Guillaume Jouret et al.
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Kenneth A. Myers et al.
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K. T. Booth et al.
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Clinical syndromes associated with Coenzyme Q(10) deficiency
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Zubair M. Ahmed et al.
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Hela Azaiez et al.
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D. Paul Mallory et al.
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Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss
Andrea M. Oza et al.
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Azam Amirian et al.
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Ayat Khalaileh et al.
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Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics
Sarah S. Kalia et al.
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Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance
Zachry T. Soens et al.
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Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation
Jennifer E. Posey et al.
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Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients
D. Baux et al.
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Christine Neuhaus et al.
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T. B. Balci et al.
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Stuart W. Tompson et al.
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Alessandro Liquori et al.
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Prasanthi Namburi et al.
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Crystel Bonnet et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2016)
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Christina M. Sloan-Heggen et al.
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Characterization of Greater Middle Eastern genetic variation for enhanced disease gene iscovery
Eric M. Scott et al.
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Laurence H. M. Pierrache et al.
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Anna M. Rose et al.
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G. Bademci et al.
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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
Sue Richards et al.
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Christina M. Sloan-Heggen et al.
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Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients
Lichun Jiang et al.
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Ieva Sliesoraityte et al.
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Peter D. Stenson et al.
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Rinki Ratnapriya et al.
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David Baux et al.
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Yaping Yang et al.
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Jana Marie Schwarz et al.
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Deafblindness: A review of the literature
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Maho Oishi et al.
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A systematic approach to assessing the clinical significance of genetic variants
H. Duzkale et al.
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Common MEFV gene mutations in Turkish patients with Behcet's disease
Turker Tasliyurt et al.
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David N. Cooper et al.
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Usher Syndrome Type 2 Caused by Activation of an USH2A Pseudoexon: Implications for Diagnosis and Therapy
Christel Vache et al.
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Polona Le Quesne Stabej et al.
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Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48
Saima Riazuddin et al.
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Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases
Erik G. Puffenberger et al.
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Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis
Crystel Bonnet et al.
ORPHANET JOURNAL OF RARE DISEASES (2011)
Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children
William J. Kimberling et al.
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A method and server for predicting damaging missense mutations
Ivan A. Adzhubei et al.
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Thomas Rio Frio et al.
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GPR98 mutations cause Usher syndrome type 2 in males
I. Ebermann et al.
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Human Splicing Finder: an online bioinformatics tool to predict splicing signals
Francois-Olivier Desmet et al.
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Impacts of Usher syndrome type IB mutations on human myosin VIIa motor function
Shinya Watanabe et al.
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Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function
Saima Riazuddin et al.
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Noa Auslender et al.
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Frans P. M. Cremers et al.
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A-F Roux et al.
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Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations
Carlo Rivolta et al.
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Novel ABCC6 mutations in pseudoxanthoma elasticum
N Chassaing et al.
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Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals
G Yeo et al.
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Predicting deleterious amino acid substitutions
PC Ng et al.
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GeneSplicer: a new computational method for splice site prediction
M Pertea et al.
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Modifier genes in mice and humans
JH Nadeau
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Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I
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