| A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis K Fjeld, FU Weiss, D Lasher, J Rosendahl, JM Chen, BB Johansson, ... Nature genetics 47 (5), 518-522, 2015 | 206 | 2015 |
| Targeted next-generation sequencing reveals MODY in up to 6.5% of antibody-negative diabetes cases listed in the Norwegian Childhood Diabetes Registry BB Johansson, HU Irgens, J Molnes, P Sztromwasser, I Aukrust, ... Diabetologia 60, 625-635, 2017 | 144 | 2017 |
| Occurrence and Characterization of mcr-1-Positive Escherichia coli Isolated From Food-Producing Animals in Poland, 2011–2016 M Zajac, P Sztromwasser, V Bortolaia, P Leekitcharoenphon, LM Cavaco, ... Frontiers in microbiology 10, 1753, 2019 | 87 | 2019 |
| ADCK3 mutations with epilepsy, stroke‐like episodes and ataxia: a POLG mimic? O Hikmat, C Tzoulis, PM Knappskog, S Johansson, H Boman, ... European journal of neurology 23 (7), 1188-1194, 2016 | 54 | 2016 |
| Rare genetic variation in mitochondrial pathways influences the risk for Parkinson's disease JJ Gaare, GS Nido, P Sztromwasser, PM Knappskog, O Dahl, ... Movement Disorders 33 (10), 1591-1600, 2018 | 49 | 2018 |
| Impact of processing method on donated human breast milk microRNA content U Smyczynska, MA Bartlomiejczyk, MM Stanczak, P Sztromwasser, ... PLoS One 15 (7), e0236126, 2020 | 40 | 2020 |
| Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy I Flønes, P Sztromwasser, K Haugarvoll, C Dölle, M Lykouri, ... PLoS One 11 (2), e0149055, 2016 | 28 | 2016 |
| PNKP mutations identified by whole-exome sequencing in a Norwegian patient with sporadic ataxia and edema C Tzoulis, P Sztromwasser, S Johansson, IO Gjerde, P Knappskog, ... The Cerebellum 16 (1), 272-275, 2017 | 20 | 2017 |
| The Thousand Polish Genomes—a database of Polish variant allele frequencies E Kaja, A Lejman, D Sielski, M Sypniewski, T Gambin, M Dawidziuk, ... International Journal of Molecular Sciences 23 (9), 4532, 2022 | 19 | 2022 |
| A cross‐sectional study of patients referred for HNF1B‐MODY genetic testing due to cystic kidneys and diabetes P Sztromwasser, A Michalak, B Małachowska, P Młudzik, K Antosik, ... Pediatric Diabetes 21 (3), 422-430, 2020 | 16 | 2020 |
| A second update on mapping the human genetic architecture of COVID-19 M Kanai, SJ Andrews, M Cordioli, C Stevens, BM Neale, M Daly, A Ganna, ... Nature 621 (7977), E7-E26, 2023 | 15 | 2023 |
| High Myopia–Excavated Optic Disc Anomaly Associated With a Frameshift Mutation in the MYC-Binding Protein 2 Gene (MYCBP2) C Bredrup, S Johansson, LA Bindoff, P Sztromwasser, J Kråkenes, ... American journal of ophthalmology 159 (5), 973-979. e2, 2015 | 15 | 2015 |
| Meta-analysis of whole-exome sequencing data from two independent cohorts finds no evidence for rare variant enrichment in Parkinson disease associated loci JJ Gaare, G Nido, C Dölle, P Sztromwasser, G Alves, OB Tysnes, ... PloS one 15 (10), e0239824, 2020 | 10 | 2020 |
| The First Report of Biallelic Missense Mutations in the SFRP4 Gene Causing Pyle Disease in Two Siblings A Sowińska-Seidler, P Sztromwasser, K Zawadzka, D Sielski, ... Frontiers in Genetics 11, 593407, 2020 | 9 | 2020 |
| Spread of equine arteritis virus among Hucul horses with different EqCXCL16 genotypes and analysis of viral quasispecies from semen of selected stallions W Socha, P Sztromwasser, M Dunowska, B Jaklinska, J Rola Scientific Reports 10 (1), 2909, 2020 | 8 | 2020 |
| RareVariantVis: new tool for visualization of causative variants in rare monogenic disorders using whole genome sequencing data T Stokowy, M Garbulowski, T Fiskerstrand, R Holdhus, K Labun, ... Bioinformatics 32 (19), 3018-3020, 2016 | 8 | 2016 |
| Direct data transfer between SOAP web services in orchestration S Subramanian, P Sztromwasser, K Petersen, P Puntervoll Proceedings of the 14th International Conference on Information Integration …, 2012 | 7 | 2012 |
| Data partitioning enables the use of standard SOAP Web Services in genome-scale workflows P Sztromwasser, P Puntervoll, K Petersen J Integr Bioinform., 2011 | 7 | 2011 |
| No evidence for rare TRAP1 mutations influencing the risk of idiopathic Parkinson’s disease JJ Gaare, GS Nido, P Sztromwasser, PM Knappskog, O Dahl, ... Brain 141 (3), e16-e16, 2018 | 6 | 2018 |
| Pipelined data‐flow delegated orchestration for data‐intensive eScience workflows S Subramanian, P Sztromwasser, P Puntervoll, K Petersen International Journal of Web Information Systems 9 (3), 204-218, 2013 | 6 | 2013 |
