| The Human Phenotype Ontology in 2021 S Köhler, M Gargano, N Matentzoglu, LC Carmody, D Lewis-Smith, ... Nucleic acids research 49 (D1), D1207-D1217, 2021 | 795 | 2021 |
| CARMIL2 Deficiency Presenting as Very Early Onset Inflammatory Bowel Disease T Magg, A Shcherbina, D Arslan, MM Desai, S Wall, V Mitsialis, R Conca, ... Inflammatory bowel diseases 25 (11), 1788-1795, 2019 | 32 | 2019 |
| FARS1‐related disorders caused by bi‐allelic mutations in cytosolic phenylalanyl‐tRNA synthetase genes: Look beyond the lungs! LA Schuch, M Forstner, CK Rapp, Y Li, DEC Smith, MI Mendes, ... Clinical Genetics 99 (6), 789-801, 2021 | 23 | 2021 |
| An RTEL1 Mutation Links to Infantile-Onset Ulcerative Colitis and Severe Immunodeficiency A Ziv, L Werner, L Konnikova, A Awad, T Jeske, M Hastreiter, V Mitsialis, ... Journal of Clinical Immunology 40, 1010-1019, 2020 | 15 | 2020 |
| SmartPhase: Accurate and fast phasing of heterozygous variant pairs for genetic diagnosis of rare diseases P Hager, HW Mewes, M Rohlfs, C Klein, T Jeske PLoS computational biology 16 (2), e1007613, 2020 | 14 | 2020 |
| Human genetic defects in SRP19 and SRPRA cause severe congenital neutropenia with distinctive proteome changes MI Linder, Y Mizoguchi, S Hesse, G Csaba, M Tatematsu, M Łyszkiewicz, ... Blood 141 (6), 645-658, 2023 | 12 | 2023 |
| KNIME4NGS: a comprehensive toolbox for next generation sequencing analysis M Hastreiter, T Jeske, J Hoser, M Kluge, K Ahomaa, MS Friedl, ... Bioinformatics 33 (10), 1565-1567, 2017 | 12 | 2017 |
| TGF-β Induction of miR-143/145 Is Associated to Exercise Response by Influencing Differentiation and Insulin Signaling Molecules in Human Skeletal Muscle SI Dreher, S Höckele, P Huypens, M Irmler, C Hoffmann, T Jeske, ... Cells 10 (12), 3443, 2021 | 11 | 2021 |
| Clinical and mutation description of the first iranian cohort of infantile inflammatory bowel disease: the iranian primary immunodeficiency registry (IPIDR) F Rahmani, E Rayzan, MR Rahmani, S Shahkarami, S Zoghi, A Rezaei, ... Immunological Investigations 50 (4), 445-459, 2021 | 10 | 2021 |
| DEUS: an R package for accurate small RNA profiling based on differential expression of unique sequences T Jeske, P Huypens, L Stirm, S Höckele, CM Wurmser, A Böhm, C Weigert, ... Bioinformatics 35 (22), 4834-4836, 2019 | 9 | 2019 |
| Defects in Signal Recognition Particle (SRP) Components Reveal an Essential and Non-Redundant Role for Granule Biogenesis and Differentiation of Neutrophil Granulocytes Y Mizoguchi, S Hesse, M Linder, N Zietara, M Lyszkiewicz, Y Liu, ... Blood 134, 216, 2019 | 2 | 2019 |
| New Findings of Immunodysregulation, Polyendocrinopathy, and Enteropathy X-linked Syndrome (IPEX); Granulomas in Lung and Duodenum DT Duztas, L Al-Shadfan, H Ozturk, H Yazan, E Cakir, NUO Ekinci, ... Pediatric and Developmental Pathology 24 (3), 252-257, 2021 | 1 | 2021 |
| Discovery of genetic causes of rare diseases through analysis of clinical sequencing data T Jeske Technische Universität München, 2022 | | 2022 |
| TGFß regulates metabolism of human skeletal muscle cells by miRNAs S Höckele, P Huypens, C Hoffmann, T Jeske, M Hastreiter, A Böhm, ... Diabetologie und Stoffwechsel 13 (S 01), P 51, 2018 | | 2018 |
Werner MewesProfessor of Bioinformatics (retired), Technische Univ. MünchenVerified email at mytum.de
