| Therapies for mitochondrial diseases and current clinical trials AW El-Hattab, AM Zarante, M Almannai, F Scaglia Molecular genetics and metabolism 122 (3), 1-9, 2017 | 210 | 2017 |
| Mitochondrial dynamics: Biological roles, molecular machinery, and related diseases AW El-Hattab, J Suleiman, M Almannai, F Scaglia Molecular Genetics and Metabolism 125 (4), 315-321, 2018 | 141 | 2018 |
| Carnitine inborn errors of metabolism M Almannai, M Alfadhel, AW El-Hattab Molecules 24 (18), 3251, 2019 | 111 | 2019 |
| Newborn screening: a review of history, recent advancements, and future perspectives in the era of next generation sequencing M Almannai, R Marom, VR Sutton Current Opinion in Pediatrics 28 (6), 694-699, 2016 | 105 | 2016 |
| Mutations in the chromatin regulator gene BRPF1 cause syndromic intellectual disability and deficient histone acetylation K Yan, J Rousseau, RO Littlejohn, C Kiss, A Lehman, JA Rosenfeld, ... The American Journal of Human Genetics 100 (1), 91-104, 2017 | 90 | 2017 |
| Newborn screening: history, current status, and future directions AW El-Hattab, M Almannai, VR Sutton Pediatric Clinics 65 (2), 389-405, 2018 | 86 | 2018 |
| Arginine and citrulline for the treatment of MELAS syndrome AW El-Hattab, M Almannai, F Scaglia Journal of inborn errors of metabolism and screening 5, e160051, 2019 | 69 | 2019 |
| SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals BG Ng, P Sosicka, S Agadi, M Almannai, CA Bacino, R Barone, LD Botto, ... Human mutation 40 (7), 908-925, 2019 | 66 | 2019 |
| Melas AW El-Hattab, M Almannai, F Scaglia | 62 | 2018 |
| MPV17‐related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects AW El‐Hattab, J Wang, H Dai, M Almannai, C Staufner, M Alfadhel, ... Human mutation 39 (4), 461-470, 2018 | 62 | 2018 |
| Clinical trials in mitochondrial disorders, an update M Almannai, AW El-Hattab, M Ali, C Soler-Alfonso, F Scaglia Molecular genetics and metabolism 131 (1-2), 1-13, 2020 | 59 | 2020 |
| Molecular and clinical spectra of FBXL4 deficiency AW El‐Hattab, H Dai, M Almannai, J Wang, EA Faqeih, A Al Asmari, ... Human mutation 38 (12), 1649-1659, 2017 | 46 | 2017 |
| Metabolic seizures M Almannai, RA Al Mahmoud, M Mekki, AW El-Hattab Frontiers in Neurology 12, 640371, 2021 | 37 | 2021 |
| Mitochondrial DNA replication: clinical syndromes M Almannai, AW El-Hattab, F Scaglia Essays in Biochemistry 62 (3), 297-308, 2018 | 36 | 2018 |
| FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance M Almannai, J Wang, H Dai, AW El-Hattab, EA Faqeih, MA Saleh, ... Molecular genetics and metabolism 125 (3), 281-291, 2018 | 35 | 2018 |
| THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder M Broly, BV Polevoda, KM Awayda, N Tong, J Lentini, T Besnard, W Deb, ... The American Journal of Human Genetics 109 (4), 587-600, 2022 | 33 | 2022 |
| Expanding the phenotype of SLC25A42‐associated mitochondrial encephalomyopathy M Almannai, A Alasmari, A Alqasmi, E Faqeih, F Al Mutairi, M Alotaibi, ... Clinical Genetics 93 (5), 1097-1102, 2018 | 31 | 2018 |
| Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial M Alfadhel, M Nashabat, M Saleh, M Elamin, A Alfares, A Al Othaim, ... Orphanet Journal of Rare Diseases 16, 1-10, 2021 | 30 | 2021 |
| GeneReviews®[Internet] AW El-Hattab, M Almannai, F Scaglia, MP Adam, HH Ardinger, RA Pagon, ... University of Washington, Seattle, 2001 | 30 | 2001 |
| Milder clinical and biochemical phenotypes associated with the c. 482G> A (p. Arg161Gln) pathogenic variant in cobalamin C disease: implications for management and screening M Almannai, R Marom, K Divin, F Scaglia, VR Sutton, WJ Craigen, B Lee, ... Molecular genetics and metabolism 122 (1-2), 60-66, 2017 | 27 | 2017 |
