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| Independent introduction of two lactase-persistence alleles into human populations reflects different history of adaptation to milk culture NS Enattah, TGK Jensen, M Nielsen, R Lewinski, M Kuokkanen, ... The American Journal of Human Genetics 82 (1), 57-72, 2008 | 396 | 2008 |
| Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome JA Martignetti, AA Aqeel, WA Sewairi, CE Boumah, M Kambouris, ... Nature genetics 28 (3), 261-265, 2001 | 367 | 2001 |
| The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes D Monies, M Abouelhoda, M AlSayed, Z Alhassnan, M Alotaibi, H Kayyali, ... Human genetics 136, 921-939, 2017 | 258 | 2017 |
| Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature J Morales, L Al-Sharif, DS Khalil, JMA Shinwari, P Bavi, RA Al-Mahrouqi, ... The American Journal of Human Genetics 85 (5), 558-568, 2009 | 249 | 2009 |
| Mutation of TBCE causes hypoparathyroidism–retardation–dysmorphism and autosomal recessive Kenny–Caffey syndrome. R Parvari, E Hershkovitz, N Grossman, R Gorodischer, B Loeys, A Zecic, ... Nature genetics 32 (3), 2002 | 247 | 2002 |
| RAGE-mediated neutrophil dysfunction is evoked by advanced glycation end products (AGEs) KS Collison, RS Parhar, SS Saleh, BF Meyer, AA Kwaasi, MM Hammami, ... Journal of leukocyte biology 71 (3), 433-444, 2002 | 245 | 2002 |
| Lessons learned from large-scale, first-tier clinical exome sequencing in a highly consanguineous population D Monies, M Abouelhoda, M Assoum, N Moghrabi, R Rafiullah, ... The American Journal of Human Genetics 104 (6), 1182-1201, 2019 | 240 | 2019 |
| Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes FA Costa-Barbosa, R Balasubramanian, KW Keefe, ND Shaw, ... The Journal of Clinical Endocrinology & Metabolism 98 (5), E943-E953, 2013 | 186 | 2013 |
| Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome AM Alazami, A Al-Saif, A Al-Semari, S Bohlega, S Zlitni, F Alzahrani, ... The American Journal of Human Genetics 83 (6), 684-691, 2008 | 150 | 2008 |
| A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer NA Al-Tassan, N Whiffin, FJ Hosking, C Palles, SM Farrington, ... Scientific reports 5 (1), 10442, 2015 | 141 | 2015 |
| 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 |
| Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases H Al-Mousa, M Abouelhoda, DM Monies, N Al-Tassan, A Al-Ghonaium, ... Journal of Allergy and Clinical Immunology 137 (6), 1780-1787, 2016 | 131 | 2016 |
| Association of a Mutation in LACC1 With a Monogenic Form of Systemic Juvenile Idiopathic Arthritis SM Wakil, DM Monies, M Abouelhoda, N Al‐Tassan, H Al‐Dusery, ... Arthritis & rheumatology 67 (1), 288-295, 2015 | 131 | 2015 |
| The T/G− 13915 variant upstream of the lactase gene (LCT) is the founder allele of lactase persistence in an urban Saudi population F Imtiaz, E Savilahti, A Sarnesto, D Trabzuni, K Al-Kahtani, I Kagevi, ... Journal of medical genetics 44 (10), e89-e89, 2007 | 120 | 2007 |
| Concomitant RAS, RET/PTC, or BRAF Mutations in Advanced Stage of Papillary Thyroid Carcinoma M Zou, EY Baitei, AS Alzahrani, FS BinHumaid, D Alkhafaji, RA Al-Rijjal, ... Thyroid 24 (8), 1256-1266, 2014 | 119 | 2014 |
| 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 |
| Weak or no association of TCF7L2 variants with Type 2 diabetes risk in an Arab population O Alsmadi, K Al-Rubeaan, G Mohamed, F Alkayal, H Al-Saud, NA Al-Saud, ... BMC medical genetics 9, 1-7, 2008 | 98 | 2008 |
| Autozygome and high throughput confirmation of disease genes candidacy S Maddirevula, F Alzahrani, M Al-Owain, MA Al Muhaizea, HR Kayyali, ... Genetics in Medicine 21 (3), 736-742, 2019 | 97 | 2019 |
