| 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 | 485 | 2015 |
| Identification and Partial Characterization of the Nonribosomal Peptide Synthetase Gene Responsible for Cereulide Production in Emetic Bacillus cereus M Ehling-Schulz, N Vukov, A Schulz, R Shaheen, M Andersson, ... Applied and Environmental Microbiology 71 (1), 105-113, 2005 | 350 | 2005 |
| 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 | 334 | 2017 |
| Emended descriptions of Clostridium acetobutylicum and Clostridium beijerinckii, and descriptions of Clostridium saccharoperbutylacetonicum sp. nov. and Clostridium … S Keis, R Shaheen, DT Jones International journal of systematic and evolutionary microbiology 51 (6 …, 2001 | 270 | 2001 |
| 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 | 258 | 2011 |
| 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 | 248 | 2017 |
| Novel CENPJ mutation causes Seckel syndrome MS Al-Dosari, R Shaheen, D Colak, FS Alkuraya Journal of medical genetics 47 (6), 411-414, 2010 | 198 | 2010 |
| Mutation in WDR4 impairs tRNA m7G46 methylation and causes a distinct form of microcephalic primordial dwarfism R Shaheen, GMH Abdel-Salam, MP Guy, R Alomar, MS Abdel-Hamid, ... Genome biology 16, 1-11, 2015 | 180 | 2015 |
| 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 | 179 | 2013 |
| 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 | 178 | 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 | 176 | 2012 |
| Emetic toxin-producing strains of Bacillus cereus show distinct characteristics within the Bacillus cereus group F Carlin, M Fricker, A Pielaat, S Heisterkamp, R Shaheen, MS Salonen, ... International journal of food microbiology 109 (1-2), 132-138, 2006 | 168 | 2006 |
| Characterizing the morbid genome of ciliopathies R Shaheen, K Szymanska, B Basu, N Patel, N Ewida, E Faqeih, ... Genome biology 17, 1-11, 2016 | 166 | 2016 |
| Persistence strategies of Bacillus cereus spores isolated from dairy silo tanks R Shaheen, B Svensson, MA Andersson, A Christiansson, ... Food microbiology 27 (3), 347-355, 2010 | 163 | 2010 |
| 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 | 159 | 2011 |
| 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 | 148 | 2016 |
| 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 | 145 | 2015 |
| 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 | 144 | 2017 |
| Sperm bioassay for rapid detection of cereulide-producing Bacillus cereus in food and related environments MA Andersson, EL Jääskeläinen, R Shaheen, T Pirhonen, LM Wijnands, ... International journal of food microbiology 94 (2), 175-183, 2004 | 138 | 2004 |
| 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 | 133 | 2013 |
Fowzan S Alkuraya, MDProfessor of Human Genetics, Alfaisal University and KFSHRC, Riyadh, Saudi ArabiaVerified email at kfshrc.edu.sa
