| 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 | 449 | 2015 |
| Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery EM Scott, A Halees, Y Itan, EG Spencer, Y He, MA Azab, SB Gabriel, ... Nature genetics 48 (9), 1071-1076, 2016 | 342 | 2016 |
| 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 | 259 | 2017 |
| 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 | 236 | 2019 |
| Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield S Anazi, S Maddirevula, E Faqeih, H Alsedairy, F Alzahrani, ... Molecular psychiatry 22 (4), 615-624, 2017 | 221 | 2017 |
| Genomic analysis of primordial dwarfism reveals novel disease genes R Shaheen, E Faqeih, S Ansari, G Abdel-Salam, ZN Al-Hassnan, ... Genome research 24 (2), 291-299, 2014 | 171 | 2014 |
| Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation R Shaheen, AM Alazami, MJ Alshammari, E Faqeih, N Alhashmi, ... Journal of medical genetics 49 (10), 630-635, 2012 | 166 | 2012 |
| Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance PE Bonnen, JW Yarham, A Besse, P Wu, EA Faqeih, AM Al-Asmari, ... The American Journal of Human Genetics 93 (3), 471-481, 2013 | 161 | 2013 |
| Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome R Shaheen, E Faqeih, A Sunker, H Morsy, T Al-Sheddi, HE Shamseldin, ... The American Journal of Human Genetics 89 (2), 328-333, 2011 | 154 | 2011 |
| Expanding the genetic heterogeneity of intellectual disability S Anazi, S Maddirevula, V Salpietro, YT Asi, S Alsahli, A Alhashem, ... Human genetics 136, 1419-1429, 2017 | 150 | 2017 |
| 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 |
| 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 | 147 | 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 | 138 | 2015 |
| A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition R Shaheen, L Han, E Faqeih, N Ewida, E Alobeid, EM Phizicky, ... Human genetics 135, 707-713, 2016 | 130 | 2016 |
| Bi-allelic alterations in AEBP1 lead to defective collagen assembly and connective tissue structure resulting in a variant of Ehlers-Danlos syndrome PR Blackburn, Z Xu, KE Tumelty, RW Zhao, WJ Monis, KG Harris, ... The American Journal of Human Genetics 102 (4), 696-705, 2018 | 129 | 2018 |
| The genetic landscape of familial congenital hydrocephalus R Shaheen, MA Sebai, N Patel, N Ewida, W Kurdi, I Altweijri, S Sogaty, ... Annals of neurology 81 (6), 890-897, 2017 | 126 | 2017 |
| Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue AM Alazami, SM Al-Qattan, E Faqeih, A Alhashem, M Alshammari, ... Human genetics 135, 525-540, 2016 | 124 | 2016 |
| Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome R Shaheen, M Aglan, K Keppler-Noreuil, E Faqeih, S Ansari, K Horton, ... The American Journal of Human Genetics 92 (4), 598-604, 2013 | 123 | 2013 |
| Expanded newborn screening program in Saudi Arabia: incidence of screened disorders M Alfadhel, A Al Othaim, S Al Saif, F Al Mutairi, M Alsayed, Z Rahbeeni, ... Journal of paediatrics and child health 53 (6), 585-591, 2017 | 116 | 2017 |
| ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder ZN Al-Hassnan, M Al-Dosary, M Alfadhel, EA Faqeih, M Alsagob, ... Journal of medical genetics 52 (3), 186-194, 2015 | 115 | 2015 |
