| OUTRIDER: a statistical method for detecting aberrantly expressed genes in RNA sequencing data F Brechtmann, C Mertes, A Matusevičiūtė, VA Yépez, Ž Avsec, M Herzog, ... The American Journal of Human Genetics 103 (6), 907-917, 2018 | 154 | 2018 |
| Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing DR Murdock, H Dai, LC Burrage, JA Rosenfeld, S Ketkar, MF Müller, ... The Journal of clinical investigation 131 (1), 2021 | 127 | 2021 |
| 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 | 120 | 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 | 107 | 2021 |
| 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 | 92 | 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 | 89 | 2018 |
| 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 | 46 | 2020 |
| Inhibition of oxidative stress in cholinergic projection neurons fully rescues aging-associated olfactory circuit degeneration in Drosophila A Hussain, A Pooryasin, M Zhang, LF Loschek, M La Fortezza, ... Elife 7, e32018, 2018 | 33 | 2018 |
| Aberrant splicing prediction across human tissues N Wagner, MH Çelik, FR Hölzlwimmer, C Mertes, H Prokisch, VA Yépez, ... Nature Genetics 55 (5), 861-870, 2023 | 30 | 2023 |
| 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 | 30 | 2021 |
| Modeling fragment counts improves single-cell ATAC-seq analysis LD Martens, DS Fischer, VA Yépez, FJ Theis, J Gagneur Nature Methods 21 (1), 28-31, 2024 | 18 | 2024 |
| How machine learning and statistical models advance molecular diagnostics of rare disorders via analysis of RNA sequencing data LD Schlieben, H Prokisch, VA Yépez Frontiers in Molecular Biosciences 8, 647277, 2021 | 14 | 2021 |
| 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 |
| Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept M Lee, AKY Kwong, MMC Chui, JFT Chau, CCY Mak, SLK Au, HM Lo, ... NPJ Genomic Medicine 7 (1), 74, 2022 | 11 | 2022 |
| 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 |
| Improved detection of aberrant splicing with FRASER 2.0 and the intron Jaccard index IF Scheller, K Lutz, C Mertes, VA Yépez, J Gagneur The American Journal of Human Genetics 110 (12), 2056-2067, 2023 | 7 | 2023 |
| Leigh syndrome is the main clinical characteristic of PTCD3 deficiency G Muñoz‐Pujol, JD Ortigoza‐Escobar, AJ Paredes‐Fuentes, C Jou, ... Brain Pathology 33 (3), e13134, 2023 | 7 | 2023 |
| Improved detection of aberrant splicing using the intron Jaccard index IF Scheller, K Lutz, C Mertes, VA Yépez, J Gagneur medRxiv, 2023 | 4 | 2023 |
| Detection of aberrant events in RNA sequencing data VA Yépez, C Mertes, MF Müller, DS Andrade, L Wachutka, L Frésard, ... | 3 | 2020 |
| Aberrant splicing prediction across human tissues MH Çelik, N Wagner, FR Hölzlwimmer, VA Yépez, C Mertes, H Prokisch, ... bioRxiv, 2022.06. 13.495326, 2022 | 2 | 2022 |
