| Gene therapy for immunodeficiency due to adenosine deaminase deficiency A Aiuti, F Cattaneo, S Galimberti, U Benninghoff, B Cassani, L Callegaro, ... New England Journal of Medicine 360 (5), 447-458, 2009 | 1143 | 2009 |
| DOCK8 deficiency: clinical and immunological phenotype and treatment options-a review of 136 patients SE Aydin, SS Kilic, C Aytekin, A Kumar, O Porras, L Kainulainen, ... Journal of clinical immunology 35, 189-198, 2015 | 292 | 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 | 258 | 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 | 240 | 2019 |
| A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection JP De Villartay, A Lim, H Al-Mousa, S Dupont, J Déchanet-Merville, ... The Journal of clinical investigation 115 (11), 3291-3299, 2005 | 209 | 2005 |
| In vivo tracking of T cells in humans unveils decade-long survival and activity of genetically modified T memory stem cells L Biasco, S Scala, L Basso Ricci, F Dionisio, C Baricordi, A Calabria, ... Science translational medicine 7 (273), 273ra13-273ra13, 2015 | 179 | 2015 |
| Outcome of hematopoietic stem cell transplantation for adenosine deaminase–deficient severe combined immunodeficiency A Hassan, C Booth, A Brightwell, Z Allwood, P Veys, K Rao, M Hönig, ... Blood, The Journal of the American Society of Hematology 120 (17), 3615-3624, 2012 | 179 | 2012 |
| Inherited IL-12p40 deficiency: genetic, immunologic, and clinical features of 49 patients from 30 kindreds C Prando, A Samarina, J Bustamante, S Boisson-Dupuis, A Cobat, ... Medicine 92 (2), 109-122, 2013 | 176 | 2013 |
| Inherited disorders of human Toll‐like receptor signaling: immunological implications CL Ku, K Yang, J Bustamante, A Puel, H Von Bernuth, OF Santos, ... Immunological reviews 203 (1), 10-20, 2005 | 162 | 2005 |
| 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 |
| Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases H Al-Mousa, M Abouelhoda, DM Monies, N Al-Tassan, A Al-Ghonaium, ... Journal of Allergy and Clinical Immunology 137 (6), 1780-1787, 2016 | 131 | 2016 |
| Clinical, immunological and molecular characterization of DOCK8 and DOCK8-like deficient patients: single center experience of twenty five patients Z Alsum, A Hawwari, O Alsmadi, S Al-Hissi, E Borrero, A Abu-staiteh, ... Journal of clinical immunology 33, 55-67, 2013 | 95 | 2013 |
| Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance Z Zhang, F Gothe, P Pennamen, JR James, D McDonald, CP Mata, ... Journal of Experimental Medicine 216 (6), 1311-1327, 2019 | 82 | 2019 |
| Primary immunodeficiency diseases in highly consanguineous populations from Middle East and North Africa: epidemiology, diagnosis, and care H Al-Mousa, B Al-Saud Frontiers in immunology 8, 264025, 2017 | 81 | 2017 |
| High incidence of severe combined immunodeficiency disease in Saudi Arabia detected through combined T cell receptor excision circle and next generation sequencing of newborn … H Al-Mousa, G Al-Dakheel, A Jabr, F Elbadaoui, M Abouelhoda, M Baig, ... Frontiers in immunology 9, 782, 2018 | 78 | 2018 |
| EROS/CYBC1 mutations: decreased NADPH oxidase function and chronic granulomatous disease DC Thomas, LM Charbonnier, A Schejtman, H Aldhekri, EL Coomber, ... Journal of Allergy and Clinical Immunology 143 (2), 782-785. e1, 2019 | 72 | 2019 |
| Hematopoietic stem cell transplantation for CD40 ligand deficiency: results from an EBMT/ESID-IEWP-SCETIDE-PIDTC study F Ferrua, S Galimberti, V Courteille, MA Slatter, C Booth, D Moshous, ... Journal of Allergy and Clinical Immunology 143 (6), 2238-2253, 2019 | 69 | 2019 |
| Hematopoietic stem cell transplantation as treatment for patients with DOCK8 deficiency SE Aydin, AF Freeman, W Al-Herz, HA Al-Mousa, RK Arnaout, RC Aydin, ... The Journal of Allergy and Clinical Immunology: In Practice 7 (3), 848-855, 2019 | 69 | 2019 |
| Novel CARMIL2 mutations in patients with variable clinical dermatitis, infections, and combined immunodeficiency AM Alazami, M Al-Helale, S Alhissi, B Al-Saud, H Alajlan, D Monies, ... Frontiers in Immunology 9, 203, 2018 | 67 | 2018 |
| Clinical, immunological, and molecular characterization of hyper-IgM syndrome due to CD40 deficiency in eleven patients BK Al-Saud, Z Al-Sum, H Alassiri, A Al-Ghonaium, S Al-Muhsen, ... Journal of clinical immunology 33, 1325-1335, 2013 | 67 | 2013 |
