| Factors influencing success of clinical genome sequencing across a broad spectrum of disorders JC Taylor, HC Martin, S Lise, J Broxholme, JB Cazier, A Rimmer, ... Nature genetics 47 (7), 717-726, 2015 | 401 | 2015 |
| The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom K Schwarze, J Buchanan, JM Fermont, H Dreau, MW Tilley, JM Taylor, ... Genetics in Medicine 22 (1), 85-94, 2020 | 212 | 2020 |
| Sequencing of human genomes with nanopore technology R Bowden, RW Davies, A Heger, AT Pagnamenta, M de Cesare, ... Nature communications 10 (1), 1869, 2019 | 200 | 2019 |
| Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project P Robbe, N Popitsch, SJL Knight, P Antoniou, J Becq, M He, A Kanapin, ... Genetics in Medicine 20 (10), 1196-1205, 2018 | 142 | 2018 |
| The Borrelia burgdorferi RelA/SpoT Homolog and Stringent Response Regulate Survival in the Tick Vector and Global Gene Expression during Starvation D Drecktrah, M Lybecker, N Popitsch, P Rescheneder, LS Hall, ... PLoS Pathogens 11 (9), e1005160, 2015 | 93 | 2015 |
| Revisiting the coding potential of the E. coli genome through Hfq co-immunoprecipitation I Bilusic, N Popitsch, P Rescheneder, R Schroeder, M Lybecker RNA biology 11 (5), 641-654, 2014 | 85 | 2014 |
| Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies B Ilkovski, AT Pagnamenta, GL O'Grady, T Kinoshita, MF Howard, M Lek, ... Human molecular genetics 24 (21), 6146-6159, 2015 | 79 | 2015 |
| Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders AT Pagnamenta, Y Murakami, JM Taylor, C Anzilotti, MF Howard, V Miller, ... European Journal of Human Genetics 25 (6), 669-679, 2017 | 73 | 2017 |
| NGC: lossless and lossy compression of aligned high-throughput sequencing data N Popitsch, A von Haeseler Nucleic acids research 41 (1), e27-e27, 2013 | 71 | 2013 |
| Genomic and transcriptomic correlates of Richter transformation in chronic lymphocytic leukemia J Klintman, N Appleby, B Stamatopoulos, K Ridout, TA Eyre, P Robbe, ... Blood, The Journal of the American Society of Hematology 137 (20), 2800-2816, 2021 | 68 | 2021 |
| In vivo expression technology and 5΄ end mapping of the Borrelia burgdorferi transcriptome identify novel RNAs expressed during mammalian infection PP Adams, C Flores Avile, N Popitsch, I Bilusic, R Schroeder, M Lybecker, ... Nucleic acids research 45 (2), 775-792, 2017 | 67 | 2017 |
| Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis AT Pagnamenta, MF Howard, E Wisniewski, N Popitsch, SJL Knight, ... Human Molecular Genetics 24 (13), 3732-3741, 2015 | 67 | 2015 |
| Novel clinically relevant genes in gastrointestinal stromal tumors identified by exome sequencing SF Schoppmann, U Vinatzer, N Popitsch, M Mittlböck, S Liebmann-Reindl, ... Clinical Cancer Research 19 (19), 5329-5339, 2013 | 66 | 2013 |
| DSNotify: handling broken links in the web of data NP Popitsch, B Haslhofer Proceedings of the 19th international conference on World wide web, 761-770, 2010 | 65 | 2010 |
| DSNotify–a solution for event detection and link maintenance in dynamic datasets N Popitsch, B Haslhofer Journal of Web Semantics 9 (3), 266-283, 2011 | 63 | 2011 |
| Impaired plasticity of macrophages in X-linked adrenoleukodystrophy I Weinhofer, B Zierfuss, S Hametner, M Wagner, N Popitsch, C Machacek, ... Brain 141 (8), 2329-2342, 2018 | 61 | 2018 |
| Assessment of pre-analytical sample handling conditions for comprehensive liquid biopsy analysis T Gerber, S Taschner-Mandl, L Saloberger-Sindhöringer, N Popitsch, ... The Journal of Molecular Diagnostics 22 (8), 1070-1086, 2020 | 55 | 2020 |
| Temperature-dependent sRNA transcriptome of the Lyme disease spirochete N Popitsch, I Bilusic, P Rescheneder, R Schroeder, M Lybecker BMC genomics 18, 1-14, 2017 | 49 | 2017 |
| Natural RNA polymerase aptamers regulate transcription in E. coli N Sedlyarova, P Rescheneder, A Magan, N Popitsch, N Rziha, I Bilusic, ... Molecular cell 67 (1), 30-43. e6, 2017 | 48 | 2017 |
| CD371 cell surface expression: a unique feature of DUX4-rearranged acute lymphoblastic leukemia A Schumich, M Zaliova, K Fortschegger, K Nebral, A Attarbaschi, K Fiser, ... Haematologica 104 (8), e352, 2019 | 46 | 2019 |
