| Integration of proteomics with genomics and transcriptomics increases the diagnostic rate of Mendelian disorders R Kopajtich, D Smirnov, SL Stenton, S Loipfinger, C Meng, IF Scheller, ... MedRxiv, 2021.03. 09.21253187, 2021 | 28 | 2021 |
| Heterozygous BRCA1 and BRCA2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents With Cancer CP Kratz, D Smirnov, R Autry, N Jäger, SM Waszak, A Großhennig, ... JNCI: Journal of the National Cancer Institute 114 (11), 1523-1532, 2022 | 27 | 2022 |
| Variants in mitochondrial ATP synthase cause variable neurologic phenotypes M Zech, R Kopajtich, K Steinbrücker, C Bris, N Gueguen, RG Feichtinger, ... Annals of neurology 91 (2), 225-237, 2022 | 22 | 2022 |
| SIRT6 is a key regulator of mitochondrial function in the brain D Smirnov, E Eremenko, D Stein, S Kaluski, W Jasinska, C Cosentino, ... Cell Death & Disease 14 (1), 35, 2023 | 21 | 2023 |
| The Hitchhiker’s guide to untargeted lipidomics analysis: practical guidelines D Smirnov, P Mazin, M Osetrova, E Stekolshchikova, E Khrameeva Metabolites 11 (11), 713, 2021 | 18 | 2021 |
| Guidelines for clinical interpretation of variant pathogenicity using RNA phenotypes D Smirnov, LD Schlieben, F Peymani, R Berutti, H Prokisch Human Mutation 43 (8), 1056-1070, 2022 | 13 | 2022 |
| Diagnosing pediatric mitochondrial disease: lessons from 2,000 exomes SL Stenton, M Shimura, D Piekutowska-Abramczuk, P Freisinger, ... MedRxiv, 2021.06. 21.21259171, 2021 | 12 | 2021 |
| Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy SJ Aleo, V Del Dotto, M Romagnoli, C Fiorini, G Capirossi, C Peron, ... Cell Reports Medicine 5 (2), 2024 | 8 | 2024 |
| Integrative omics approaches to advance rare disease diagnostics D Smirnov, N Konstantinovskiy, H Prokisch Journal of Inherited Metabolic Disease 46 (5), 824-838, 2023 | 6 | 2023 |
| Genetic landscape of pediatric acute liver failure of indeterminate origin D Lenz, LD Schlieben, M Shimura, A Bianzano, D Smirnov, R Kopajtich, ... Hepatology 79 (5), 1075-1087, 2024 | 5 | 2024 |
| Mitochondrial diseases mimicking autoimmune diseases of the CNS and good response to steroids initially A Della Marina, A Bertolini, A Wegener-Panzer, M Flotats-Bastardas, ... European Journal of Paediatric Neurology 41, 27-35, 2022 | 4 | 2022 |
| Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach A Pascual-Alonso, C Xiol, D Smirnov, R Kopajtich, H Prokisch, ... Human Genomics 17 (1), 85, 2023 | 3 | 2023 |
| Respiratory and olfactory cilia molecular machines of locomotor apparatus VO Samoilov, EV Bigdai, EV Kryzhanovsky, BA Dudich, SA Panov, ... Biophysics 58, 197-202, 2013 | 3 | 2013 |
| Respiratory and olfactory cilia molecular machines of locomotor apparatus VO Samoĭlov, EV Bigdaĭ, EV Kryzhanovskiĭ, BA Dudich, SA Panov, ... Biofizika 58 (2), 269-275, 2013 | 2 | 2013 |
| Reply to Li and Colleagues CP Kratz, D Smirnov, R Autry, N Jäger, SM Waszak, A Großhennig, ... JNCI: Journal of the National Cancer Institute 115 (6), 760-761, 2023 | 1 | 2023 |
| Reply to Evans and Woodward CP Kratz, D Smirnov, R Autry, N Jäger, SM Waszak, A Großhennig, ... JNCI: Journal of the National Cancer Institute 115 (2), 231-232, 2023 | 1 | 2023 |
| Multi-Omics integration for molecular diagnostics of mendelian disorders R Kopajtich, D Smirnov, S Loipfinger, C Meng, D Ghezzi, K Murayama, ... EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 119-120, 2020 | 1 | 2020 |
| SIRT6-dependent functional switch via K494 modifications of RE-1 Silencing Transcription factor D Toiber, A Zaretsky, AG Venzor, E Eremenko, D Stein, D Smirnov, ... | | 2024 |
| Multi‐omics in MECP2 duplication syndrome patients and carriers A Pascual‐Alonso, C Xiol, D Smirnov, R Kopajtich, H Prokisch, ... European Journal of Neuroscience, 2024 | | 2024 |
| Molecular profiles of MECP2 duplication syndrome and Rett syndrome patients A Pascual-Alonso, C Xiol, D Smirnov, R Kopajtich, H Prokisch, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 464-464, 2024 | | 2024 |
Renata DmitrievaGroup leader, Federal Almazov Medical Research Center, St Petersburg, Russia在 almazovcentre.ru 的电子邮件经过验证
Renata DmitrievaGroup leader, Federal Almazov Medical Research Center, St Petersburg, Russia在 almazovcentre.ru 的电子邮件经过验证