| Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes L Abu-Safieh, M Alrashed, S Anazi, H Alkuraya, AO Khan, M Al-Owain, ... Genome research 23 (2), 236-247, 2013 | 310 | 2013 |
| Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies T Eisenberger, C Neuhaus, AO Khan, C Decker, MN Preising, ... PloS one 8 (11), e78496, 2013 | 252 | 2013 |
| In search of triallelism in Bardet–Biedl syndrome L Abu-Safieh, S Al-Anazi, L Al-Abdi, M Hashem, H Alkuraya, M Alamr, ... European journal of human genetics 20 (4), 420-427, 2012 | 153 | 2012 |
| Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases Saudi Mendeliome Group falkuaya@ kfshrc. edu. sa Genome biology 16, 1-14, 2015 | 144 | 2015 |
| Mutations in LRPAP1 are associated with severe myopia in humans MA Aldahmesh, AO Khan, H Alkuraya, N Adly, S Anazi, AA Al-Saleh, ... The American Journal of Human Genetics 93 (2), 313-320, 2013 | 141 | 2013 |
| Genetics of primary glaucoma AO Khan Current opinion in ophthalmology 22 (5), 347-355, 2011 | 131 | 2011 |
| Postoperative glaucoma following infantile cataract surgery: an individual patient data meta-analysis A Mataftsi, AB Haidich, S Kokkali, PK Rabiah, E Birch, DR Stager, ... JAMA ophthalmology 132 (9), 1059-1067, 2014 | 122 | 2014 |
| Two-year survival of Ahmed valve implantation in the first 2 years of life with and without intraoperative mitomycin-C F Al-Mobarak, AO Khan Ophthalmology 116 (10), 1862-1865, 2009 | 120 | 2009 |
| Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies N Patel, MA Aldahmesh, H Alkuraya, S Anazi, H Alsharif, AO Khan, ... Genetics in Medicine 18 (6), 554-562, 2016 | 116 | 2016 |
| Mutations in ARMC9, which encodes a basal body protein, cause Joubert syndrome in humans and ciliopathy phenotypes in zebrafish JC Van De Weghe, TDS Rusterholz, B Latour, ME Grout, KA Aldinger, ... The American Journal of Human Genetics 101 (1), 23-36, 2017 | 102 | 2017 |
| Molecular characterization of retinitis pigmentosa in Saudi Arabia MA Aldahmesh, LA Safieh, H Alkuraya, A Al-Rajhi, H Shamseldin, ... Molecular vision 15, 2464, 2009 | 102 | 2009 |
| Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract N Patel, D Anand, D Monies, S Maddirevula, AO Khan, T Algoufi, ... Human genetics 136, 205-225, 2017 | 95 | 2017 |
| Identification of ADAMTS18 as a gene mutated in Knobloch syndrome MA Aldahmesh, AO Khan, JY Mohamed, H Alkuraya, H Ahmed, S Bobis, ... Journal of medical genetics 48 (9), 597-601, 2011 | 95 | 2011 |
| Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus MA Aldahmesh, AO Khan, JY Mohamed, MH Alghamdi, FS Alkuraya Human mutation 33 (6), 960-962, 2012 | 82 | 2012 |
| Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma-a distinct phenotype caused by recessive LTBP2 mutations AO Khan, MA Aldahmesh, FS Alkuraya Molecular vision 17, 2570, 2011 | 80 | 2011 |
| Next‐generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational … C Neuhaus, T Eisenberger, C Decker, S Nagl, C Blank, M Pfister, ... Molecular genetics & genomic medicine 5 (5), 531-552, 2017 | 79 | 2017 |
| The distinct ophthalmic phenotype of Knobloch syndrome in children AO Khan, MA Aldahmesh, JY Mohamed, S Al-Mesfer, FS Alkuraya British Journal of Ophthalmology 96 (6), 890-895, 2012 | 79 | 2012 |
| Recessive congenital total cataract with microcornea and heterozygote carrier signs caused by a novel missense CRYAA mutation (R54C) AO Khan, MA Aldahmesh, B Meyer American journal of ophthalmology 144 (6), 949-952. e2, 2007 | 78 | 2007 |
| WDR19: An ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior‐Loken syndrome RG Coussa, EA Otto, HY Gee, P Arthurs, H Ren, I Lopez, V Keser, Q Fu, ... Clinical genetics 84 (2), 150-159, 2013 | 75 | 2013 |
| Severe molecular defects of a novel FOXC1 W152G mutation result in aniridia YA Ito, TK Footz, FB Berry, F Mirzayans, M Yu, AO Khan, MA Walter Investigative ophthalmology & visual science 50 (8), 3573-3579, 2009 | 72 | 2009 |
