| Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families AM Alazami, N Patel, HE Shamseldin, S Anazi, MS Al-Dosari, F Alzahrani, ... Cell reports 10 (2), 148-161, 2015 | 450 | 2015 |
| An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes G Wheway, M Schmidts, DA Mans, K Szymanska, TMT Nguyen, H Racher, ... Nature cell biology 17 (8), 1074-1087, 2015 | 246 | 2015 |
| Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia MA Aldahmesh, JY Mohamed, HS Alkuraya, IC Verma, RD Puri, AA Alaiya, ... The American Journal of Human Genetics 89 (6), 745-750, 2011 | 198 | 2011 |
| IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet–Biedl syndrome MA Aldahmesh, Y Li, A Alhashem, S Anazi, H Alkuraya, M Hashem, ... Human molecular genetics 23 (12), 3307-3315, 2014 | 170 | 2014 |
| Characterizing the morbid genome of ciliopathies R Shaheen, K Szymanska, B Basu, N Patel, N Ewida, E Faqeih, ... Genome biology 17, 1-11, 2016 | 150 | 2016 |
| 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 | 138 | 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 | 129 | 2013 |
| Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus AM Alazami, H Hijazi, MS Al-Dosari, R Shaheen, A Hashem, ... Journal of medical genetics 50 (7), 425-430, 2013 | 124 | 2013 |
| 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 | 107 | 2016 |
| Clinical and molecular characterisation of Bardet–Biedl syndrome in consanguineous populations: the power of homozygosity mapping LA Safieh, MA Aldahmesh, H Shamseldin, M Hashem, R Shaheen, ... Journal of medical genetics 47 (4), 236-241, 2010 | 107 | 2010 |
| Novel mutations in MERTK associated with childhood onset rod-cone dystrophy DS Mackay, RH Henderson, PI Sergouniotis, Z Li, P Moradi, GE Holder, ... Molecular vision 16, 369, 2010 | 104 | 2010 |
| Molecular characterization of retinitis pigmentosa in Saudi Arabia MA Aldahmesh, LA Safieh, H Alkuraya, A Al-Rajhi, H Shamseldin, ... Molecular vision 15, 2464, 2009 | 104 | 2009 |
| 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 | 92 | 2011 |
| 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 | 87 | 2017 |
| 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 |
| 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 | 77 | 2012 |
| Prevalence and functionality of paucimorphic and private MC4R mutations in a large, unselected European British population, scanned by meltMADGE KK Alharbi, E Spanakis, K Tan, MJ Smith, MA Aldahmesh, SD O'Dell, ... Human mutation 28 (3), 294-302, 2007 | 77 | 2007 |
| Autozygosity mapping with exome sequence data IM Carr, S Bhaskar, J O’Sullivan, MA Aldahmesh, HE Shamseldin, ... Human mutation 34 (1), 50-56, 2013 | 74 | 2013 |
| 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 | 72 | 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 | 72 | 2011 |
