| 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 | 395 | 2008 |
| Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG‐Ia) G Matthijs, E Schollen, C Bjursell, A Erlandson, H Freeze, F Imtiaz, ... Human mutation 16 (5), 386-394, 2000 | 172 | 2000 |
| Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases. SM Group Genome Biology 26 (16), 134, 2015 | 138* | 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 |
| Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden M Abouelhoda, T Sobahy, M El-Kalioby, N Patel, H Shamseldin, D Monies, ... Genetics in Medicine 18 (12), 1244-1249, 2016 | 101 | 2016 |
| Variation in DNAH1 may contribute to primary ciliary dyskinesia F Imtiaz, R Allam, K Ramzan, M Al-Sayed BMC medical genetics 16, 1-6, 2015 | 78 | 2015 |
| Genetic Study of Saudi Diabetes (GSSD): significant association of the KCNJ11 E23K polymorphism with type 2 diabetes O Alsmadi, K Al‐Rubeaan, SM Wakil, F Imtiaz, G Mohamed, H Al‐Saud, ... Diabetes/metabolism research and reviews 24 (2), 137-140, 2008 | 74 | 2008 |
| An apamin-and scyllatoxin-insensitive isoform of the human SK3 channel OH Wittekindt, V Visan, H Tomita, F Imtiaz, JJ Gargus, F Lehmann-Horn, ... Molecular pharmacology 65 (3), 788-801, 2004 | 70 | 2004 |
| Mitochondrial energy-deficient endophenotype in autism JJ Gargus, F Imtiaz American Journal of Biochemistry and Biotechnology 4 (2), 198-207, 2008 | 67 | 2008 |
| Genotypes and phenotypes of patients in the UK with carbohydrate‐deficient glycoprotein syndrome type 1 F Imtiaz, V Worthington, M Champion, C Beesley, J Charlwood, P Clayton, ... Journal of inherited metabolic disease 23 (2), 162-174, 2000 | 64 | 2000 |
| Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG‐Ib) E Schollen, L Dorland, TJ De Koning, OP Van Diggelen, JGM Huijmans, ... Human mutation 16 (3), 247-252, 2000 | 58 | 2000 |
| Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannose CJ Hendriksz, P McClean, MJ Henderson, DG Keir, VC Worthington, ... Archives of disease in childhood 85 (4), 339-340, 2001 | 49 | 2001 |
| ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice O Diaz-Horta, C Abad, L Sennaroglu, J Foster, A DeSmidt, G Bademci, ... Proceedings of the National Academy of Sciences 113 (21), 5993-5998, 2016 | 47 | 2016 |
| Variable expression pattern in Donnai-Barrow syndrome: Report of two novel LRP2 mutations and review of the literature O Khalifa, Z Al-Sahlawi, F Imtiaz, K Ramzan, R Allam, A Al-Mostafa, ... European Journal of Medical Genetics 58 (5), 293-299, 2015 | 45 | 2015 |
| A comprehensive introduction to the genetic basis of non-syndromic hearing loss in the Saudi Arabian population F Imtiaz, K Taibah, K Ramzan, G Bin-Khamis, S Kennedy, B Al-Mubarak, ... BMC medical genetics 12, 1-6, 2011 | 38 | 2011 |
| Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature B Albash, F Imtiaz, H Al-Zaidan, H Al-Manea, M Banemai, R Allam, ... European journal of pediatrics 173, 647-653, 2014 | 33 | 2014 |
| Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin F Imtiaz, MS Rashed, B Al-Mubarak, R Allam, H El-Karaksy, Z Al-Hassnan, ... Molecular genetics and metabolism 104 (4), 688-690, 2011 | 31 | 2011 |
| Genome-wide gene expression profiling and mutation analysis of Saudi patients with Canavan disease N Kaya, F Imtiaz, D Colak, M Al-Sayed, A Al-Odaib, F Al-Zahrani, ... Genetics in Medicine 10 (9), 675-684, 2008 | 29 | 2008 |
| Mutations underlying 3-hydroxy-3-methylglutaryl CoA lyase deficiency in the Saudi population M Al-Sayed, F Imtiaz, OA Alsmadi, MS Rashed, BF Meyer BMC Medical Genetics 7, 1-5, 2006 | 27 | 2006 |
| Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families MH Al-Hamed, N Alsahan, SJ Rice, N Edwards, E Nooreddeen, M Alotaibi, ... Pediatric Nephrology 34, 1615-1623, 2019 | 26 | 2019 |
