| 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 |
| 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 |
| 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 |
| Association of a Mutation in LACC1 With a Monogenic Form of Systemic Juvenile Idiopathic Arthritis SM Wakil, DM Monies, M Abouelhoda, N Al‐Tassan, H Al‐Dusery, ... Arthritis & rheumatology 67 (1), 288-295, 2015 | 130 | 2015 |
| Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies N Patel, MA Aldahmesh, H Alkuraya, S Anazi, H Alsharif, AO Khan, ... Genetics in Medicine 18 (6), 554-562, 2016 | 107 | 2016 |
| Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIII N Kaya, H Aldhalaan, B Al‐Younes, D Colak, T Shuaib, F Al‐Mohaileb, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 156 …, 2011 | 71 | 2011 |
| A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies D Monies, HN Alhindi, MA Almuhaizea, M Abouelhoda, AM Alazami, ... Human Genomics 10, 1-7, 2016 | 51 | 2016 |
| Exome-based case–control association study using extreme phenotype design reveals novel candidates with protective effect in diabetic retinopathy C Shtir, MA Aldahmesh, S Al-Dahmash, E Abboud, H Alkuraya, ... Human genetics 135, 193-200, 2016 | 51 | 2016 |
| METTL23, a transcriptional partner of GABPA, is essential for human cognition RE Reiff, BR Ali, B Baron, TW Yu, S Ben-Salem, ME Coulter, CR Schubert, ... Human molecular genetics 23 (13), 3456-3466, 2014 | 47 | 2014 |
| 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 | 45 | 2012 |
| A novel X‐linked disorder with developmental delay and autistic features N Kaya, D Colak, A Albakheet, M Al‐Owain, N Abu‐Dheim, B Al‐Younes, ... Annals of neurology 71 (4), 498-508, 2012 | 39 | 2012 |
| Clinical and biochemical features associated with BCS1L mutation M Al-Owain, D Colak, A Albakheet, B Al-Younes, Z Al-Humaidi, ... Journal of inherited metabolic disease 36, 813-820, 2013 | 37 | 2013 |
| Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking LE Sanderson, K Lanko, M Alsagob, R Almass, N Al-Ahmadi, M Najafi, ... Brain 144 (3), 769-780, 2021 | 36 | 2021 |
| Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome DM Monies, HN Al-Hindi, MA Al-Muhaizea, DJ Jaroudi, B Al-Younes, ... Neuromuscular Disorders 24 (4), 353-359, 2014 | 33 | 2014 |
| Genomic and transcriptomic analyses distinguish classic Rett and Rett-like syndrome and reveals shared altered pathways D Colak, H Al-Dhalaan, M Nester, AB AlBakheet, B Al-Younes, ... Genomics 97 (1), 19-28, 2011 | 32 | 2011 |
| Expanding phenotypic and allelic heterogeneity of tricho-hepato-enteric syndrome DM Monies, Z Rahbeeni, M Abouelhoda, EA Naim, B Al-Younes, ... Journal of pediatric gastroenterology and nutrition 60 (3), 352-356, 2015 | 29 | 2015 |
| KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability N Kaya, M Alsagob, MC D'Adamo, A Al-Bakheet, S Hasan, M Muccioli, ... Journal of medical genetics 53 (11), 786-792, 2016 | 26 | 2016 |
| Novel V97G ASAH1 mutation found in Farber disease patients: unique appearance of the disease with an intermediate severity, and marked early involvement of central and … AK Chedrawi, ZN Al-Hassnan, M Al-Muhaizea, D Colak, B Al-Younes, ... Brain and Development 34 (5), 400-404, 2012 | 24 | 2012 |
| Genome-wide expression profiling of patients with primary open angle glaucoma D Colak, J Morales, TM Bosley, A Al-Bakheet, B AlYounes, N Kaya, ... Investigative ophthalmology & visual science 53 (9), 5899-5904, 2012 | 23 | 2012 |
