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Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q C Toomes, HM Bottomley, RM Jackson, KV Towns, S Scott, DA Mackey, ... The American Journal of Human Genetics 74 (4), 721-730, 2004 | 425 | 2004 |
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Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes EM Valente, CV Logan, S Mougou-Zerelli, JH Lee, JL Silhavy, F Brancati, ... Nature genetics 42 (7), 619-625, 2010 | 337 | 2010 |
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Mutations in HPRP3, a third member ofpre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa CF Chakarova, MM Hims, H Bolz, L Abu-Safieh, RJ Patel, ... Human molecular genetics 11 (1), 87-92, 2002 | 313 | 2002 |
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Amelogenesis imperfecta; genes, proteins, and pathways CEL Smith, JA Poulter, A Antanaviciute, J Kirkham, SJ Brookes, ... Frontiers in physiology 8, 435, 2017 | 302 | 2017 |
Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2) EN Vithana, P Morgan, P Sundaresan, ND Ebenezer, DTH Tan, ... Nature genetics 38 (7), 755-757, 2006 | 277 | 2006 |
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Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration RK Koenekoop, H Wang, J Majewski, X Wang, I Lopez, H Ren, Y Chen, ... Nature genetics 44 (9), 1035-1039, 2012 | 212 | 2012 |
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Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa A Buskin, L Zhu, V Chichagova, B Basu, S Mozaffari-Jovin, D Dolan, ... Nature communications 9 (1), 4234, 2018 | 194 | 2018 |
Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta W El-Sayed, DA Parry, RC Shore, M Ahmed, H Jafri, Y Rashid, ... The American Journal of Human Genetics 85 (5), 699-705, 2009 | 186 | 2009 |