| Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology S Elouej, K Harhouri, M Le Mao, G Baujat, S Nampoothiri, H Kayserili, ... Nature communications 11 (1), 4589, 2020 | 43 | 2020 |
| Homozygous missense variants in NTNG2, encoding a presynaptic netrin-G2 adhesion protein, lead to a distinct neurodevelopmental disorder CM Dias, J Punetha, C Zheng, N Mazaheri, A Rad, S Efthymiou, ... The American Journal of Human Genetics 105 (5), 1048-1056, 2019 | 43 | 2019 |
| Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome C Cozma, M Hovakimyan, MI Iurașcu, N Makhseed, LA Selim, ... Orphanet Journal of Rare Diseases 14, 1-10, 2019 | 14 | 2019 |
| Clinical and genetic spectrum of mitochondrial DNA depletion syndromes: a report of 6 cases with 4 novel variants N AlMenabawy, HM Hassaan, M Ramadan, IEA Meguid, HA El Gindy, ... Mitochondrion 65, 139-144, 2022 | 7 | 2022 |
| ASAH1‐related disorders: Description of 15 novel pediatric patients and expansion of the clinical phenotype IG Mahmoud, MA Elmonem, MS Zaki, A Ramadan, NM Al‐Menabawy, ... Clinical Genetics 98 (6), 598-605, 2020 | 7 | 2020 |
| Clinical, biomarker and genetic spectrum of Niemann‐Pick type C in Egypt: The detection of nine novel NPC1 mutations. IG Mahmoud, NM Elkhateeb, W Elnaggar, A Sobhi, MY Girgis, M Kamel, ... Clinical Genetics 95 (4), 2019 | 7 | 2019 |
| A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene A Bertoli-Avella, R Hotakainen, M Al Shehhi, A Urzi, C Pareira, A Marais, ... Journal of medical genetics 59 (10), 993-1001, 2022 | 4 | 2022 |
| Clinical and biochemical spectrum of metabolic cardiomyopathy in Egyptian children ZS Seliem, DA Mehaney, L Abd elmoteleb Selim, SA El-Saiedi, RI Ismail, ... African Health Sciences 22 (1), 200-9, 2022 | 2 | 2022 |
| Clinical, biochemical, and molecular characterization of mucopolysaccharidosis type III in 34 Egyptian patients N Almenabawy, M Ramadan, M Kamel, IG Mahmoud, F Amer, Y Shaheen, ... American Journal of Medical Genetics Part A 191 (9), 2354-2363, 2023 | 1 | 2023 |
| A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorder MS Zaki, MY Issa, MM Thomas, HM Elbendary, K Rafat, NM Al Menabawy, ... Neurological Sciences 42, 2737-2745, 2021 | 1 | 2021 |
| Case 4: hydrocephalus, macrothrombocytopenia, inclusion bodies, and nephropathy in a 9-year-old boy TA Belal, NM Al Menabawy Pediatrics in Review 38 (7), 335-336, 2017 | 1 | 2017 |
| Importance of the biochemical investigations for the functional characterization of a NPC1 variant identified by exome sequencing N Almenabawy, C Hung, I Sosova, S Mercimek‐Andrews American Journal of Medical Genetics Part A, e63595, 2024 | | 2024 |
| Clinical and biochemical phenotypes, genotypes, and long-term outcomes of individuals with galactosemia type I from a single metabolic genetics center in Alberta N Almenabawy, S Bahl, AL Ostlund, S Ghai-Jain, I Sosova, A Chan, ... Molecular Genetics and Metabolism Reports 38, 101055, 2024 | | 2024 |
| Niemann-Pick disease type C: a diagnostic challenge N AlMenabawy, IG M Mahmoud, N EL Khateeb, A M Sobhy, M M Zaki, ... Molecular Genetics and Metabolism 120 (1-2), S19, 2017 | | 2017 |
