| Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes L Abu-Safieh, M Alrashed, S Anazi, H Alkuraya, AO Khan, M Al-Owain, ... Genome research 23 (2), 236-247, 2013 | 322 | 2013 |
| 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 (8), 921-939, 2017 | 321 | 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 | 312 | 2019 |
| 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 | 153 | 2012 |
| 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 | 147 | 2017 |
| 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 | 144 | 2018 |
| 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 (5), 525-540, 2016 | 141 | 2016 |
| 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 | 126 | 2019 |
| 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 | 123 | 2014 |
| 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), 116, 2015 | 118 | 2015 |
| Application of electrospray tandem mass spectrometry to neonatal screening MS Rashed, Z Rahbeeni, PT Ozand Seminars in perinatology 23 (2), 183-193, 1999 | 116 | 1999 |
| The morbid genome of ciliopathies: an update HE Shamseldin, R Shaheen, N Ewida, DK Bubshait, H Alkuraya, ... Genetics in Medicine 22 (6), 1051-1060, 2020 | 114 | 2020 |
| 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 |
| Unusual presentations of propionic acidemia PT Ozand, M Rashed, GG Gascon, NG Youssef, H Harfi, Z Rahbeeni, ... Brain and Development 16, 46-57, 1994 | 76 | 1994 |
| Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome SE Sheppard, IM Campbell, MH Harr, N Gold, D Li, HT Bjornsson, ... American Journal of Medical Genetics Part A 185 (6), 1649-1665, 2021 | 68 | 2021 |
| Ethylmalonic aciduria: an organic acidemia with CNS involvement and vasculopathy PT Ozand, M Rashed, DS Millington, N Sakati, S Hazzaa, Z Rahbeeni, ... Brain and Development 16, 12-22, 1994 | 68 | 1994 |
| Hyperornithinemia–hyperammonemia–homocitrullinuria syndrome with stroke-like imaging presentation: clinical, biochemical and molecular analysis ZN Al-Hassnan, MS Rashed, OY Al-Dirbashi, Z Patay, Z Rahbeeni, ... Journal of the neurological sciences 264 (1-2), 187-194, 2008 | 67 | 2008 |
| Molecular and clinical spectra of FBXL4 deficiency AW El‐Hattab, H Dai, M Almannai, J Wang, EA Faqeih, A Al Asmari, ... Human mutation 38 (12), 1649-1659, 2017 | 56 | 2017 |
| 4-Hydroxybutyric aciduria Z Rahbeeni, PT Ozand, M Rashed, GG Gascon, M Al Nasser, A Al Odaib, ... Brain and Development 16, 64-71, 1994 | 54 | 1994 |
| Novel mutation in GLRB in a large family with hereditary hyperekplexia M Al‐Owain, D Colak, A Al‐Bakheet, N Al‐Hashmi, T Shuaib, ... Clinical genetics 81 (5), 479-484, 2012 | 49 | 2012 |
