| 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 | 108 | 2022 |
| Detection of aberrant splicing events in RNA-seq data using FRASER C Mertes, IF Scheller, VA Yépez, MH Çelik, Y Liang, LS Kremer, M Gusic, ... Nature communications 12 (1), 529, 2021 | 94 | 2021 |
| OCR-Stats: Robust estimation and statistical testing of mitochondrial respiration activities using Seahorse XF Analyzer VA Yépez, LS Kremer, A Iuso, M Gusic, R Kopajtich, E Koňaříková, ... PloS one 13 (7), e0199938, 2018 | 86 | 2018 |
| Mutations in MDH2, encoding a Krebs cycle enzyme, cause early-onset severe encephalopathy S Ait-El-Mkadem, M Dayem-Quere, M Gusic, A Chaussenot, S Bannwarth, ... The American Journal of Human Genetics 100 (1), 151-159, 2017 | 84 | 2017 |
| SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder V Del Dotto, F Ullah, I Di Meo, P Magini, M Gusic, A Maresca, L Caporali, ... The Journal of clinical investigation 130 (1), 108-125, 2020 | 80 | 2020 |
| Detection of aberrant gene expression events in RNA sequencing data VA Yépez, C Mertes, MF Müller, D Klaproth-Andrade, L Wachutka, ... Nature protocols 16 (2), 1276-1296, 2021 | 78 | 2021 |
| Quantification and discovery of sequence determinants of protein‐per‐mRNA amount in 29 human tissues B Eraslan, D Wang, M Gusic, H Prokisch, BM Hallström, M Uhlén, ... Molecular systems biology 15 (2), e8513, 2019 | 73 | 2019 |
| ncRNAs: new players in mitochondrial health and disease? M Gusic, H Prokisch Frontiers in genetics 11, 510070, 2020 | 72 | 2020 |
| NDUFB8 mutations cause mitochondrial complex I deficiency in individuals with Leigh-like encephalomyopathy D Piekutowska-Abramczuk, Z Assouline, L Mataković, RG Feichtinger, ... The American Journal of Human Genetics 102 (3), 460-467, 2018 | 53 | 2018 |
| Bi-allelic ADPRHL2 mutations cause neurodegeneration with developmental delay, ataxia, and axonal neuropathy K Danhauser, B Alhaddad, C Makowski, D Piekutowska-Abramczuk, ... The American Journal of Human Genetics 103 (5), 817-825, 2018 | 49 | 2018 |
| Genetic basis of mitochondrial diseases M Gusic, H Prokisch FEBS letters 595 (8), 1132-1158, 2021 | 42 | 2021 |
| Bi-allelic UQCRFS1 variants are associated with mitochondrial complex III deficiency, cardiomyopathy, and alopecia totalis M Gusic, G Schottmann, RG Feichtinger, C Du, C Scholz, M Wagner, ... The American Journal of Human Genetics 106 (1), 102-111, 2020 | 42 | 2020 |
| Characterization of a Leber's hereditary optic neuropathy (LHON) family harboring two primary LHON mutations m. 11778G> A and m. 14484T> C of the mitochondrial DNA CB Catarino, U Ahting, M Gusic, A Iuso, B Repp, K Peters, S Biskup, ... Mitochondrion 36, 15-20, 2017 | 33 | 2017 |
| 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 |
| Biallelic mutations in SLC1A2; an additional mode of inheritance for SLC1A2-related epilepsy M Wagner, M Gusic, R Günthner, B Alhaddad, R Kovacs-Nagy, ... Neuropediatrics 49 (01), 059-062, 2018 | 17 | 2018 |
| Homozygous loss‐of‐function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of … J Suleiman, KM Riedhammer, T Jicinsky, M Mundt, L Werner, M Gusic, ... Human Mutation 40 (11), 1985-1992, 2019 | 13 | 2019 |
| Diagnosing pediatric mitochondrial disease: lessons from 2,000 exomes SL Stenton, M Shimura, D Piekutowska-Abramczuk, P Freisinger, ... medRxiv, 2021.06. 21.21259171, 2021 | 11 | 2021 |
| Detection of aberrant splicing events in RNA-seq data with FRASER C Mertes, I Scheller, VA Yépez, MH Çelik, Y Liang, LS Kremer, M Gusic, ... bioRxiv, 2019.12. 18.866830, 2019 | 11 | 2019 |
| Ko naríková VA Yépez, LS Kremer, A Iuso, M Gusic, R Kopajtich E, 0 | 7 | |
| Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG3 F Invernizzi, A Legati, A Nasca, E Lamantea, B Garavaglia, M Gusic, ... Brain 144 (9), e74-e74, 2021 | 6 | 2021 |
