| 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 | 454 | 2015 |
| Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus SM Al-Mayouf, A Sunker, R Abdwani, SA Abrawi, F Almurshedi, ... Nature genetics 43 (12), 1186-1188, 2011 | 448 | 2011 |
| International cooperation to enable the diagnosis of all rare genetic diseases KM Boycott, A Rath, JX Chong, T Hartley, FS Alkuraya, G Baynam, ... The American Journal of Human Genetics 100 (5), 695-705, 2017 | 396 | 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 | 355 | 2016 |
| New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism M Horikoshi, H Yaghootkar, DO Mook-Kanamori, U Sovio, HR Taal, ... Nature genetics 45 (1), 76-82, 2013 | 331 | 2013 |
| The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies C Redin, H Brand, RL Collins, T Kammin, E Mitchell, JC Hodge, ... Nature genetics 49 (1), 36-45, 2017 | 319 | 2017 |
| 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 | 296 | 2013 |
| LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency A Alangari, A Alsultan, N Adly, MJ Massaad, IS Kiani, A Aljebreen, ... Journal of Allergy and Clinical Immunology 130 (2), 481-488. e2, 2012 | 278 | 2012 |
| 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 | 266 | 2017 |
| Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia J Wallmeier, DA Al-Mutairi, CT Chen, NT Loges, P Pennekamp, ... Nature genetics 46 (6), 646-651, 2014 | 265 | 2014 |
| Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome C Rooryck, A Diaz-Font, DPS Osborn, E Chabchoub, ... Nature genetics 43 (3), 197-203, 2011 | 262 | 2011 |
| SUMO1 haploinsufficiency leads to cleft lip and palate FS Alkuraya, I Saadi, JJ Lund, A Turbe-Doan, CC Morton, RL Maas Science 313 (5794), 1751-1751, 2006 | 261 | 2006 |
| Treatment of retinitis pigmentosa due to MERTK mutations by ocular subretinal injection of adeno-associated virus gene vector: results of a phase I trial NG Ghazi, EB Abboud, SR Nowilaty, H Alkuraya, A Alhommadi, H Cai, ... Human genetics 135, 327-343, 2016 | 259 | 2016 |
| An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes G Wheway, M Schmidts, DA Mans, K Szymanska, TMT Nguyen, H Racher, ... Nature cell biology 17 (8), 1074-1087, 2015 | 252 | 2015 |
| Human mutations in NDE1 cause extreme microcephaly with lissencephaly FS Alkuraya, X Cai, C Emery, GH Mochida, MS Al-Dosari, JM Felie, ... The American Journal of Human Genetics 88 (5), 536-547, 2011 | 251 | 2011 |
| 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 | 250 | 2009 |
| 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 | 248 | 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 | 230 | 2017 |
| CPAP promotes timely cilium disassembly to maintain neural progenitor pool E Gabriel, A Wason, A Ramani, LM Gooi, P Keller, A Pozniakovsky, ... The EMBO journal 35 (8), 803-819, 2016 | 225 | 2016 |
| Mutations in the RNA granule component TDRD7 cause cataract and glaucoma SA Lachke, FS Alkuraya, SC Kneeland, T Ohn, A Aboukhalil, GR Howell, ... Science 331 (6024), 1571-1576, 2011 | 206 | 2011 |
Arif O KhanProfessor of Ophthalmology, Cleveland Clinic Abu Dhabi在 mssm.edu 的电子邮件经过验证
