| 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 |
| Clinical exome sequencing: results from 2819 samples reflecting 1000 families D Trujillano, AM Bertoli-Avella, K Kumar Kandaswamy, MER Weiss, ... European Journal of Human Genetics 25 (2), 176-182, 2017 | 360 | 2017 |
| 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 | 343 | 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 | 238 | 2019 |
| 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 |
| Identification of KLHL41 mutations implicates BTB-Kelch-mediated ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathy VA Gupta, G Ravenscroft, R Shaheen, EJ Todd, LC Swanson, M Shiina, ... The American Journal of Human Genetics 93 (6), 1108-1117, 2013 | 168 | 2013 |
| 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 | 148 | 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 |
| 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 |
| 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 |
| Biotin-responsive basal ganglia disease revisited: clinical, radiologic, and genetic findings B Tabarki, S Al-Shafi, S Al-Shahwan, Z Azmat, A Al-Hashem, N Al-Adwani, ... Neurology 80 (3), 261-267, 2013 | 119 | 2013 |
| Molecular autopsy in maternal–fetal medicine HE Shamseldin, W Kurdi, F Almusafri, M Alnemer, A Alkaff, Z Babay, ... Genetics in Medicine 20 (4), 420-427, 2018 | 110 | 2018 |
| Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH R Shaheen, Z Rahbeeni, A Alhashem, E Faqeih, Q Zhao, Y Xiong, ... The American Journal of Human Genetics 94 (6), 898-904, 2014 | 110 | 2014 |
| Genomic and phenotypic delineation of congenital microcephaly R Shaheen, S Maddirevula, N Ewida, S Alsahli, GMH Abdel-Salam, ... Genetics in Medicine 21 (3), 545-552, 2019 | 99 | 2019 |
| Ciliary Genes TBC1D32/C6orf170 and SCLT1 are Mutated in Patients with OFD Type IX N Adly, A Alhashem, A Ammari, FS Alkuraya Human mutation 35 (1), 36-40, 2014 | 99 | 2014 |
| 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 |
| Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families HE Shamseldin, M Tulbah, W Kurdi, M Nemer, N Alsahan, E Al Mardawi, ... Genome biology 16, 1-7, 2015 | 96 | 2015 |
Fowzan S Alkuraya, MDProfessor of Human Genetics, Alfaisal University and KFSHRC, Riyadh, Saudi ArabiaVerified email at kfshrc.edu.sa
