| Genetics of mitochondrial diseases: Identifying mutations to help diagnosis SL Stenton, H Prokisch EBioMedicine 56, 2020 | 224 | 2020 |
| Clinical implementation of RNA sequencing for Mendelian disease diagnostics VA Yépez, M Gusic, R Kopajtich, C Mertes, NH Smith, CL Alston, R Ban, ... Genome medicine 14 (1), 38, 2022 | 148 | 2022 |
| Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy SL Stenton, NL Sheremet, CB Catarino, NA Andreeva, Z Assouline, ... The Journal of Clinical Investigation 131 (6), 2021 | 136 | 2021 |
| The diagnosis of inborn errors of metabolism by an integrative “multi‐omics” approach: A perspective encompassing genomics, transcriptomics, and proteomics SL Stenton, LS Kremer, R Kopajtich, C Ludwig, H Prokisch Journal of inherited metabolic disease 43 (1), 25-35, 2020 | 87 | 2020 |
| Advancing genomic approaches to the molecular diagnosis of mitochondrial disease SL Stenton, H Prokisch Essays in Biochemistry 62 (3), 399-408, 2018 | 72 | 2018 |
| Beyond the exome: what’s next in diagnostic testing for Mendelian conditions MH Wojcik, CM Reuter, S Marwaha, M Mahmoud, MH Duyzend, ... The American Journal of Human Genetics 110 (8), 1229-1248, 2023 | 64 | 2023 |
| Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases J Tan, M Wagner, SL Stenton, TM Strom, SB Wortmann, H Prokisch, ... EBioMedicine 54, 2020 | 62 | 2020 |
| The genetics of mitochondrial disease: dissecting mitochondrial pathology using multi‐omic pipelines CL Alston, SL Stenton, G Hudson, H Prokisch, RW Taylor The Journal of pathology 254 (4), 430-442, 2021 | 59 | 2021 |
| Oral Coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary Coenzyme Q10 deficiency S Drovandi, BS Lipska-Ziętkiewicz, F Ozaltin, F Emma, B Gulhan, O Boyer, ... Kidney international 102 (3), 604-612, 2022 | 44 | 2022 |
| 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 | 35 | 2021 |
| Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course A Esposito, A Falace, M Wagner, M Gal, D Mei, V Conti, T Pisano, D Aprile, ... Brain 142 (12), 3876-3891, 2019 | 35 | 2019 |
| DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome SL Stenton, M Tesarova, NL Sheremet, CB Catarino, V Carelli, E Ciara, ... Brain 145 (5), 1624-1631, 2022 | 34 | 2022 |
| Genome Sequencing for Diagnosing Rare Diseases MH Wojcik, G Lemire, E Berger, MS Zaki, M Wissmann, W Win, SM White, ... New England Journal of Medicine 390 (21), 1985-1997, 2024 | 31 | 2024 |
| Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy S Drovandi, BS Lipska-Ziętkiewicz, F Ozaltin, F Emma, B Gulhan, O Boyer, ... Kidney International 102 (3), 592-603, 2022 | 29 | 2022 |
| Leigh syndrome: a study of 209 patients at the Beijing Children's hospital SL Stenton, Y Zou, H Cheng, Z Liu, J Wang, D Shen, H Jin, C Ding, ... Annals of neurology 91 (4), 466-482, 2022 | 25 | 2022 |
| NAD (P) HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses J Zhou, J Li, SL Stenton, X Ren, S Gong, F Fang, H Prokisch Brain 143 (2), e8-e8, 2020 | 25 | 2020 |
| The clinical application of RNA sequencing in genetic diagnosis of Mendelian disorders SL Stenton, H Prokisch Clinics in Laboratory Medicine 40 (2), 121-133, 2020 | 18 | 2020 |
| Genetics of mitochondrial diseases: identifying mutations to help diagnosis. EBioMedicine 56: 102784 SL Stenton, H Prokisch | 18 | 2020 |
| De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome Y Chen, R Dawes, HC Kim, A Ljungdahl, SL Stenton, S Walker, J Lord, ... Nature 632 (8026), 832-840, 2024 | 17 | 2024 |
| Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance SL Stenton, D Piekutowska‐Abramczuk, L Kulterer, R Kopajtich, ... Human Mutation 42 (3), 310-319, 2021 | 17 | 2021 |
