| Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function R Sheffer, L Douiev, S Edvardson, A Shaag, K Tamimi, D Soiferman, ... American journal of medical genetics Part A 170 (6), 1603-1607, 2016 | 95 | 2016 |
| Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemia B Abu-Libdeh, L Douiev, S Amro, M Shahrour, A Ta-Shma, C Miller, ... European Journal of Human Genetics 25 (10), 1142-1146, 2017 | 49 | 2017 |
| Upregulation of Mitochondrial Content in Cytochrome c Oxidase Deficient Fibroblasts A Kogot-Levin, A Saada, G Leibowitz, D Soiferman, L Douiev, I Raz, ... PLoS One 11 (10), e0165417, 2016 | 42 | 2016 |
| The Effects of Ascorbate, N-Acetylcysteine, and Resveratrol on Fibroblasts from Patients with Mitochondrial Disorders L Douiev, D Soiferman, C Alban, A Saada Journal of clinical medicine 6 (1), 1, 2016 | 32 | 2016 |
| Bezafibrate improves mitochondrial fission and function in DNM1L-deficient patient cells L Douiev, R Sheffer, G Horvath, A Saada Cells 9 (2), 301, 2020 | 20 | 2020 |
| Primary coenzyme Q deficiency due to novel ADCK3 variants, studies in fibroblasts and review of literature A Shalata, M Edery, C Habib, J Genizi, M Mahroum, L Khalaily, N Assaf, ... Neurochemical Research 44, 2372-2384, 2019 | 19 | 2019 |
| Cytochrome c oxidase deficiency, oxidative stress, possible antioxidant therapy and link to nuclear DNA damage L Douiev, B Abu-Libdeh, A Saada European Journal of Human Genetics 26 (4), 579-581, 2018 | 17 | 2018 |
| The pathomechanism of cytochrome c oxidase deficiency includes nuclear DNA damage L Douiev, A Saada Biochimica et Biophysica Acta (BBA)-Bioenergetics 1859 (9), 893-900, 2018 | 14 | 2018 |
| Information women choose to receive about prenatal chromosomal microarray analysis H Hochner, H Daum, L Douiev, N Zvi, A Frumkin, M Macarov, ... Obstetrics & Gynecology 135 (1), 149-157, 2020 | 12 | 2020 |
| Upregulation of COX4-2 via HIF-1α in Mitochondrial COX4-1 Deficiency L Douiev, C Miller, S Ruppo, H Benyamini, B Abu-Libdeh, A Saada Cells 10 (2), 452, 2021 | 11 | 2021 |
| Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state G Yigit, R Sheffer, M Daana, Y Li, E Kaygusuz, H Mor-Shakad, J Altmüller, ... Journal of medical genetics 59 (6), 549-553, 2022 | 10 | 2022 |
| Personalized prenatal genomic testing: Couples' experience with choice regarding uncertain and adult‐onset findings from chromosomal‐microarray‐analysis T Millo, L Douiev, D Popper, S Shkedi‐Rafid Prenatal Diagnosis 41 (3), 376-383, 2021 | 9 | 2021 |
| Variable effects of omaveloxolone (RTA408) on primary fibroblasts with mitochondrial defects M Zighan, D Arkadir, L Douiev, G Keller, C Miller, A Saada Frontiers in molecular biosciences 9, 890653, 2022 | 4 | 2022 |
| Replicative stress coincides with impaired nuclear DNA damage response in COX4-1 deficiency L Douiev, C Miller, G Keller, H Benyamini, B Abu-Libdeh, A Saada International Journal of Molecular Sciences 23 (8), 4149, 2022 | 4 | 2022 |
| The Effect of Ethoxyquin on Mitochondrial Function in Human Fibroblasts M Zighan, A Levy, A Hoke, C Miller, L Douiev, P Yu-Wai-Man, D Arkadir, ... Preprints, 2024 | | 2024 |
| Mitochondrial COX4-1 deficiency leads to impaired nuclear DNA damage response resulting in proliferation deficits and premature senescence L Douiev, C Miller, H Benyamini, B Abu-Libdeh, A Saada | | 2021 |
| The pathomechanism of COX deficiency includes nuclear DNA damage and replicative stress A Saada, L Douiev Biochimica et Biophysica Acta (BBA)-Bioenergetics 1859, e28, 2018 | | 2018 |
| Characterization of a de novo heterozygous DNM1L mutation and evaluation of small molecules in patient's fibroblasts L Douiev, R Sheffer, V Meiner, A Saada FEBS JOURNAL 284, 177-177, 2017 | | 2017 |
