| Consensus Middle East and North Africa Registry on inborn errors of immunity A Aghamohammadi, N Rezaei, R Yazdani, S Delavari, N Kutukculer, ... Journal of clinical immunology 41 (6), 1339-1351, 2021 | 53 | 2021 |
| The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia C Mehawej, A Delahodde, L Legeai-Mallet, V Delague, N Kaci, ... PLoS genetics 10 (5), e1004311, 2014 | 53 | 2014 |
| The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population N Jalkh, S Corbani, Z Haidar, N Hamdan, E Farah, J Abou Ghoch, ... BMC medical genomics 12, 1-7, 2019 | 50 | 2019 |
| Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delay JM Capo-Chichi, C Mehawej, V Delague, C Caillaud, I Khneisser, ... European journal of medical genetics 58 (12), 637-641, 2015 | 50 | 2015 |
| The identification of MAFB mutations in eight patients with multicentric carpo–tarsal osteolysis supports genetic homogeneity but clinical variability C Mehawej, JB Courcet, G Baujat, R Mouy, M Gérard, I Landru, ... American Journal of Medical Genetics Part A 161 (12), 3023-3029, 2013 | 49 | 2013 |
| The Middle East and North Africa diagnosis and management guidelines for inborn errors of immunity S Baris, H Abolhassani, MJ Massaad, M Al-Nesf, Z Chavoshzadeh, ... The Journal of Allergy and Clinical Immunology: In Practice 11 (1), 158-180. e11, 2023 | 44 | 2023 |
| A 20-year clinical and genetic neuromuscular cohort analysis in Lebanon: an international effort A Megarbane, S Bizzari, A Deepthi, S Sabbagh, H Mansour, E Chouery, ... Journal of Neuromuscular Diseases 9 (1), 193-210, 2022 | 29 | 2022 |
| Molecular study of three Lebanese and Syrian patients with Waardenburg syndrome and report of novel mutations in the EDNRB and MITF genes NM Haddad, D Ente, E Chouery, N Jalkh, C Mehawej, Z Khoueir, ... Molecular syndromology 1 (4), 169-175, 2011 | 27 | 2011 |
| Homozygous mutation in ELMO2 may cause Ramon syndrome C Mehawej, A Hoischen, RA Farah, I Marey, M David, S Stora, K Lachlan, ... Clinical Genetics 93 (3), 703-706, 2018 | 21 | 2018 |
| Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia MH Gannagé-Yared, P Makrythanasis, E Chouery, C Sobacchi, ... Bone 68, 142-145, 2014 | 16 | 2014 |
| Identification of a novel causative mutation in the ROR2 gene in a Lebanese family with a mild form of recessive Robinow syndrome C Mehawej, E Chouery, D Maalouf, G Baujat, M Le Merrer, ... European journal of medical genetics 55 (2), 103-108, 2012 | 16 | 2012 |
| Genetic predisposition to porto‐sinusoidal vascular disorder: A functional genomic‐based, multigenerational family study J Shan, A Megarbane, A Chouchane, D Karthik, R Temanni, AR Romero, ... Hepatology 77 (2), 501-511, 2023 | 15 | 2023 |
| Actionable exomic secondary findings in 280 Lebanese participants N Jalkh, C Mehawej, E Chouery Frontiers in Genetics 11, 208, 2020 | 15 | 2020 |
| “Fork and bracket” syndrome expands the spectrum of SBF1-related sensory motor polyneuropathies M Romani, C Mehawej, T Mazza, A Mégarbané, EM Valente Neurology: Genetics 2 (2), e61, 2016 | 15 | 2016 |
| Recessive marfanoid syndrome with herniation associated with a homozygous mutation in Fibulin-3 S Bizzari, L El-Bazzal, P Nair, A Younan, S Stora, C Mehawej, S El-Hayek, ... European journal of medical genetics 63 (5), 103869, 2020 | 13 | 2020 |
| A second family with autosomal recessive spondylometaphyseal dysplasia and early death A Mégarbané, C Mehawej, AE Zahr, S Haddad, V Cormier‐Daire American Journal of Medical Genetics Part A 164 (4), 1010-1014, 2014 | 13 | 2014 |
| ITK deficiency presenting as autoimmune lymphoproliferative syndrome JG Wallace, MF Alosaimi, CD Khayat, F Jaber, A Almutairi, ... Journal of Allergy and Clinical Immunology 147 (2), 743-745. e1, 2021 | 11 | 2021 |
| Marfanoid habitus, inguinal hernia, advanced bone age, and distinctive facial features: a new collagenopathy? A Mégarbané, N Hanna, E Chouery, N Jalkh, C Mehawej, C Boileau American Journal of Medical Genetics Part A 158 (5), 1185-1189, 2012 | 11 | 2012 |
| First molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene A Chebly, S Corbani, J Abou Ghoch, C Mehawej, A Megarbane, ... BMC Medical Genetics 19, 1-7, 2018 | 10 | 2018 |
| DNMT3B deficiency presenting as severe combined immune deficiency: a case report C Mehawej, H Khalife, R Hanna-Wakim, G Dbaibo, C Farra Clinical Immunology 215, 108453, 2020 | 9 | 2020 |
