| CADD: predicting the deleteriousness of variants throughout the human genome P Rentzsch, D Witten, GM Cooper, J Shendure, M Kircher Nucleic acids research 47 (D1), D886-D894, 2019 | 3359 | 2019 |
| CADD-Splice—improving genome-wide variant effect prediction using deep learning-derived splice scores P Rentzsch, M Schubach, J Shendure, M Kircher Genome medicine 13, 1-12, 2021 | 570 | 2021 |
| ShinyButchR: Interactive NMF-based decomposition workflow of genome-scale datasets A Quintero, D Hübschmann, N Kurzawa, S Steinhauser, P Rentzsch, ... Biology Methods and Protocols 5 (1), bpaa022, 2020 | 18 | 2020 |
| A novel homozygous mutation in the FUCA1 gene highlighting fucosidosis as a cause of dystonia: Case report and literature review G Wali, GM Wali, CM Sue, KR Kumar Neuropediatrics 50 (04), 248-252, 2019 | 18 | 2019 |
| Deciphering programs of transcriptional regulation by combined deconvolution of multiple omics layers D Hüebschmann, N Kurzawa, S Steinhauser, P Rentzsch, S Krämer, ... bioRxiv, 199547, 2017 | 8 | 2017 |
| Specifying cellular context of transcription factor regulons for exploring context-specific gene regulation programs M Minaeva, J Domingo, P Rentzsch, T Lappalainen NAR Genomics and Bioinformatics 7 (1), lqae178, 2025 | 2 | 2025 |
| Whole genome sequencing in early onset advanced heart failure E Linnér, T Czuba, O Gidlöf, J Lundgren, E Bollano, M Hellberg, S Celik, ... Scientific Reports 15 (1), 4306, 2025 | | 2025 |
| Recalibrating differential gene expression by genetic dosage variance prioritizes functionally relevant genes P Rentzsch, A Kollotzek, P Mohammadi, T Lappalainen bioRxiv, 2024 | | 2024 |
| Monogenic and Polygenic Contributions to Early Onset Advanced Heart Failure Based on Whole Genome Sequencing E Linner, T Czuba, O Gidlöf, J Lundgren, E Bollano, M Hellberg, S Celik, ... The Journal of Heart and Lung Transplantation 43 (4), S193, 2024 | | 2024 |
| varCADD: large sets of standing genetic variation enable genome-wide pathogenicity prediction L Nazaretyan, P Rentzsch, M Kircher bioRxiv, 2024.09. 24.614666, 2024 | | 2024 |
| Single Cell Profiles of Human Heart Failure and Myocardial Diseases O Gidlof, T Czuba, N Pimpalwar, S Celik, K Vukusic, J Lundgren, ... Circulation 148 (Suppl_1), A16780-A16780, 2023 | | 2023 |
| Using machine learning to predict pathogenicity of genomic variants throughout the human genome P Rentzsch Mathematisch-Naturwissenschaftliche Fakultät, 2023 | | 2023 |
