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USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses A Adato, S Vreugde, T Joensuu, N Avidan, R Hamalainen, O Belenkiy, ... European Journal of Human Genetics 10 (6), 339-350, 2002 | 192 | 2002 |
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Retinitis pigmentosa and allied conditions today: a paradigm of translational research C Ayuso, JM Millan Genome medicine 2, 1-11, 2010 | 156 | 2010 |
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Informed consent for whole-genome sequencing studies in the clinical setting. Proposed recommendations on essential content and process C Ayuso, JM Millán, M Mancheno, R Dal-Ré European Journal of Human Genetics 21 (10), 1054-1059, 2013 | 140 | 2013 |
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BBS genotype–phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition C Deveault, G Billingsley, JL Duncan, J Bin, R Theal, A Vincent, ... Human mutation 32 (6), 610-619, 2011 | 136 | 2011 |
Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray A Ávila-Fernández, D Cantalapiedra, E Aller, E Vallespín, ... Molecular vision 16, 2550, 2010 | 125 | 2010 |
Development of a genotyping microarray for Usher syndrome FPM Cremers, WJ Kimberling, M Külm, AP De Brouwer, E Van Wijk, ... Journal of medical genetics 44 (2), 153-160, 2007 | 123 | 2007 |
MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy N Muelas, P Hackman, H Luque, M Garcés-Sánchez, I Azorín, ... Neurology 75 (8), 732-741, 2010 | 118 | 2010 |
Antisense oligonucleotide-based splice correction for USH2A-associated retinal degeneration caused by a frequent deep-intronic mutation RWN Slijkerman, C Vaché, M Dona, G García-García, M Claustres, ... Molecular Therapy-Nucleic Acids 5, 2016 | 115 | 2016 |
AMPK activation protects from neuronal dysfunction and vulnerability across nematode, cellular and mouse models of Huntington's disease RP Vázquez-Manrique, F Farina, K Cambon, M Dolores Sequedo, ... Human molecular genetics 25 (6), 1043-1058, 2016 | 99 | 2016 |
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Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet–Biedl syndrome patient population G Billingsley, J Bin, KJ Fieggen, JL Duncan, C Gerth, K Ogata, SS Wodak, ... Journal of medical genetics 47 (7), 453-463, 2010 | 97 | 2010 |