| Pan-cancer analysis of whole genomes Nature 578 (7793), 82-93, 2020 | 1528 | 2020 |
| Cancer immune control needs senescence induction by interferon-dependent cell cycle regulator pathways in tumours E Brenner, BF Schörg, F Ahmetlić, T Wieder, FJ Hilke, N Simon, ... Nature Communications 11 (1), 1335, 2020 | 94 | 2020 |
| Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases B Zurek, K Ellwanger, LELM Vissers, R Schüle, M Synofzik, A Töpf, ... European journal of human genetics 29 (9), 1325-1331, 2021 | 67 | 2021 |
| MDM2, MDM4 and EGFR amplifications and hyperprogression in metastatic acral and mucosal melanoma A Forschner, FJ Hilke, I Bonzheim, A Gschwind, G Demidov, T Amaral, ... Cancers 12 (3), 540, 2020 | 59 | 2020 |
| Distinct mutation patterns reveal melanoma subtypes and influence immunotherapy response in advanced melanoma patients FJ Hilke, T Sinnberg, A Gschwind, H Niessner, G Demidov, T Amaral, ... Cancers 12 (9), 2359, 2020 | 41 | 2020 |
| Enhanced epigenetic profiling of classical human monocytes reveals a specific signature of healthy aging in the DNA methylome I Shchukina, J Bagaitkar, O Shpynov, E Loginicheva, S Porter, ... Nature aging 1 (1), 124-141, 2021 | 38* | 2021 |
| Radiogenomics in head and neck cancer: correlation of radiomic heterogeneity and somatic mutations in TP53, FAT1 and KMT2D K Zwirner, FJ Hilke, G Demidov, JS Fernandez, S Ossowski, C Gani, ... Strahlentherapie und Onkologie 195 (9), 771-779, 2019 | 36 | 2019 |
| Allele balance bias identifies systematic genotyping errors and false disease associations F Muyas, M Bosio, A Puig, H Susak, L Domènech, G Escaramis, L Zapata, ... Human mutation 40 (1), 115-126, 2019 | 27 | 2019 |
| Circulating cell-free DNA: A potential biomarker to differentiate inflammation and infection during radiochemotherapy K Zwirner, FJ Hilke, G Demidov, S Ossowski, C Gani, O Rieß, D Zips, ... Radiotherapy and Oncology 129 (3), 575-581, 2018 | 18 | 2018 |
| ClinCNV: Novel method for allele-specific somatic copy-number alterations detection G Demidov, S Ossowski BioRxiv, 837971, 2019 | 16 | 2019 |
| Transcript-Specific Loss-of-Function Variants in VPS16 Are Enriched in Patients With Dystonia J Park, A Reilaender, JN Petry-Schmelzer, P Stöbe, I Cordts, F Harmuth, ... Neurology: Genetics 8 (1), e644, 2021 | 9 | 2021 |
| A statistical approach to detection of copy number variations in PCR-enriched targeted sequencing data G Demidov, T Simakova, J Vnuchkova, A Bragin BMC bioinformatics 17, 1-12, 2016 | 9 | 2016 |
| Detection of mobile elements insertions for routine clinical diagnostics in targeted sequencing data G Demidov, J Park, S Armeanu‐Ebinger, C Roggia, U Faust, I Cordts, ... Molecular genetics & genomic medicine 9 (12), e1807, 2021 | 8 | 2021 |
| Efficient and flexible Integration of variant characteristics in rare variant association studies using integrated nested Laplace approximation H Susak, L Serra-Saurina, G Demidov, R Rabionet, L Domènech, M Bosio, ... PLoS computational biology 17 (2), e1007784, 2021 | 8 | 2021 |
| Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy J Park, A Tucci, V Cipriani, G Demidov, C Rocca, J Senderek, M Butryn, ... Genetics in Medicine 24 (10), 2079-2090, 2022 | 7 | 2022 |
| Exome-wide analysis of copy number variation shows association of the human leukocyte antigen region with asthma in UK Biobank KA Fawcett, G Demidov, N Shrine, ML Paynton, S Ossowski, I Sayers, ... BMC Medical Genomics 15 (1), 119, 2022 | 7 | 2022 |
| ClinCNV: multi-sample germline CNV detection in NGS data G Demidov, M Sturm, S Ossowski BioRxiv, 2022.06. 10.495642, 2022 | 7 | 2022 |
| Detection and Characterization of a De Novo Alu Retrotransposition Event Causing NKX2‐1‐Related Disorder F Magrinelli, C Rocca, R Simone, R Zenezini Chiozzi, Z Jaunmuktane, ... Movement Disorders 38 (2), 347-353, 2023 | 6 | 2023 |
| Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings A Schmidt, M Danyel, K Grundmann, T Brunet, H Klinkhammer, TC Hsieh, ... medRxiv, 2023.04. 19.23288824, 2023 | 6 | 2023 |
| Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases N Weisschuh, P Mazzola, T Zuleger, K Schaeferhoff, L Kühlewein, ... Journal of Medical Genetics 61 (2), 186-195, 2024 | 5 | 2024 |
