| PGAP3 Associated with Hyperphosphatasia with Mental Retardation Plays a Novel Role in Brain Morphogenesis and Neuronal Wiring at Early Development SI Da’as, W Aamer, W Hasan, A Al-Maraghi, A Al-Kurbi, H Kilani, ... Cells 9 (8), 1782, 2020 | 26 | 2020 |
| Reading between the (genetic) lines: how epigenetics is unlocking novel therapies for type 1 diabetes ASALS Akil, LF Jerman, E Yassin, SS Padmajeya, A Al-Kurbi, KA Fakhro Cells 9 (11), 2403, 2020 | 14 | 2020 |
| Burden of Mendelian disorders in a large Middle Eastern biobank W Aamer, A Al-Maraghi, N Syed, GD Gandhi, E Aliyev, AA Al-Kurbi, ... Genome Medicine 16 (1), 46, 2024 | 5 | 2024 |
| A Complex Intrachromosomal Rearrangement Disrupting IRF6 in a Family with Popliteal Pterygium and Van der Woude Syndromes AA Al-Kurbi, E Aliyev, S AlSa’afin, W Aamer, S Palaniswamy, ... Genes 14 (4), 849, 2023 | 3 | 2023 |
| A recessive variant in SIM2 in a child with complex craniofacial anomalies and global developmental delay AA Al-Kurbi, SI Da'as, W Aamer, N Krishnamoorthy, I Poggiolini, ... European Journal of Medical Genetics 65 (4), 104455, 2022 | 2 | 2022 |
| 600-P: The 1000 Qatar Omics Study: Development of New Analytical Tools for Early Prediction and Treatment of Diabetic Retinopathy in Qatar SS Padmajeya, L Jerman, A Al-Kurbi, K Fakhro, AJ Jenkins, A Hardikar, ... Diabetes 68 (Supplement_1), 2019 | 1 | 2019 |
| 439-P: A Promising Regulatory Role for MicroRNA-133b in Controlling Lipid Metabolism and Dyslipidemia Gene Expression in Diabetic Retinopathy: The 1000 Qataromics Cohort AS Akil, SS Padmajeya, LA Jerman, T Habib, A Al-Kurbi, EE Aliyev, ... Diabetes 70 (Supplement_1), 2021 | | 2021 |
| Identification of Genes Causing Pediatric Craniofacial Disorders Using Whole Genome Sequencing AA Al-Kurbi PQDT-Global, 2021 | | 2021 |
| The Qatari Mendelian program-A premium resource for gene discovery and data sharing for rare diseases from the greater Middle East W Aamer, A Almaraghi, A Al-Kurbi, S Padmajeya, A Al-Shakaki, A Robay, ... EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 470-470, 2020 | | 2020 |
| 563-P: Differentially Expressed Plasma miRNAs Are Closely Associated with the Presence of Microvascular Complications in Type 2 Diabetes: The 1000 Qatar-Omics Study Cohort AS Akil, SS Padmajeya, LA Jerman, A Al-Kurbi, AM Hussein, A Hardikar, ... Diabetes 69 (Supplement_1), 2020 | | 2020 |
