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P. Sztromwasser · SciRah

Researcher profile · Semantic Scholar

P. Sztromwasser

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P. Sztromwasser — researcher profile on SciRah

h-index: 13
Works: 48
Citations: 955

Most-cited papers

A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis
K. Fjeld, F. Weiss, Denise Lasher, J. Rosendahl +25 more
2015Nature Genetics177 citations Open access
Semantic Scholar
Targeted next-generation sequencing reveals MODY in up to 6.5% of antibody-negative diabetes cases listed in the Norwegian Childhood Diabetes Registry
B. Johansson, H. Irgens, J. Molnes, P. Sztromwasser +9 more
2017Diabetologia130 citations Open access
Semantic Scholar
A second update on mapping the human genetic architecture of COVID-19
Masahiro Shea J. Mattia Christine Benjamin M. Mark Andrea G Kanai Andrews Cordioli Stevens Neale Daly Ganna Pa, Masahiro Shea J. Mattia Christine Benjamin M. Mark Andrea Kanai Andrews Cordioli Stevens Neale Daly Ganna, Masahiro Kanai, S. Andrews +496 more
2022Nature108 citations Open access
Semantic Scholar
Occurrence and Characterization of mcr-1-Positive Escherichia coli Isolated From Food-Producing Animals in Poland, 2011–2016
M. Zając, P. Sztromwasser, V. Bortolaia, P. Leekitcharoenphon +4 more
2019Frontiers in Microbiology74 citations Open access
Semantic Scholar
Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration
D. Brunetti, Janniche Torsvik, C. Dallabona, P. Teixeira +17 more
2015EMBO Molecular Medicine69 citations Open access
Semantic Scholar
Rare genetic variation in mitochondrial pathways influences the risk for Parkinson's disease
Johannes J Gaare, G. Nido, P. Sztromwasser, P. Knappskog +8 more
2018Movement Disorders55 citations Open access
Semantic Scholar
Impact of processing method on donated human breast milk microRNA content
Urszula Smyczyńska, M. Bartłomiejczyk, M. Stańczak, P. Sztromwasser +4 more
2020PLoS ONE49 citations Open access
Semantic Scholar
ADCK3 mutations with epilepsy, stroke‐like episodes and ataxia: a POLG mimic?
O. Hikmat, C. Tzoulis, P. M. Knappskog, Stefan Johansson +6 more
2016European Journal of Neurology45 citations Open access
Semantic Scholar
The Thousand Polish Genomes—A Database of Polish Variant Allele Frequencies
E. Kaja, Adrian Lejman, D. Sielski, M. Sypniewski +26 more
2022International Journal of Molecular Sciences31 citations Open access
Semantic Scholar
A cross‐sectional study of patients referred for HNF1B‐MODY genetic testing due to cystic kidneys and diabetes
P. Sztromwasser, A. Michalak, Beata Małachowska, Paulina Młudzik +6 more
2019Pediatric Diabetes21 citations Open access
Semantic Scholar
Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy
I. Flønes, P. Sztromwasser, K. Haugarvoll, C. Dölle +8 more
2016PLoS ONE19 citations Open access
Semantic Scholar
PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema
C. Tzoulis, P. Sztromwasser, S. Johansson, I. O. Gjerde +2 more
2016Cerebellum17 citations Open access
Semantic Scholar
High myopia-excavated optic disc anomaly associated with a frameshift mutation in the MYC-binding protein 2 gene (MYCBP2).
C. Bredrup, S. Johansson, L. Bindoff, P. Sztromwasser +7 more
2015American journal of ophthalmology-glaucoma15 citations
Semantic Scholar
Corrigendum: Occurrence and Characterization of mcr-1-Positive Escherichia coli Isolated From Food-Producing Animals in Poland, 2011–2016
M. Zając, P. Sztromwasser, V. Bortolaia, P. Leekitcharoenphon +4 more
2019Frontiers in Microbiology13 citations Open access
Semantic Scholar
Defective PITRM 1 mitochondrial peptidase is associated with A amyloidotic neurodegeneration
D. Brunetti, Janniche Torsvik, C. Dallabona, P. Teixeira +17 more
201513 citations
Semantic Scholar
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, Barbara Jaklińska +1 more
2020Scientific Reports12 citations Open access
Semantic Scholar
The First Report of Biallelic Missense Mutations in the SFRP4 Gene Causing Pyle Disease in Two Siblings
Anna Sowińska-Seidler, P. Sztromwasser, K. Zawadzka, D. Sielski +4 more
2020Frontiers in Genetics11 citations Open access
Semantic Scholar
Better safe than sorry—Whole-genome sequencing indicates that missense variants are significant in susceptibility to COVID-19
Dawid Słomian, J. Szyda, P. Dobosz, Joanna Stojak +9 more
2023PLoS ONE10 citations Open access
Semantic Scholar
Meta-analysis of whole-exome sequencing data from two independent cohorts finds no evidence for rare variant enrichment in Parkinson disease associated loci
Johannes J Gaare, G. Nido, C. Dölle, P. Sztromwasser +4 more
2020PLoS ONE10 citations Open access
Semantic Scholar
Compound heterozygous GLI3 variants in siblings with thyroid hemiagenesis
Ewelina Szczepanek-Parulska, B. Budny, M. Borowczyk, K. Zawadzka +2 more
2020Endocrine9 citations Open access
Semantic Scholar
Data partitioning enables the use of standard SOAP Web Services in genome-scale workflows
P. Sztromwasser, Kjell Petersen, P. Puntervoll
2011Journal of Integrative Bioinformatics8 citations Open access
Semantic Scholar
Beyond GWAS—Could Genetic Differentiation within the Allograft Rejection Pathway Shape Natural Immunity to COVID-19?
J. Szyda, P. Dobosz, Joanna Stojak, M. Sypniewski +9 more
2022International Journal of Molecular Sciences7 citations Open access
Semantic Scholar
RareVariantVis: new tool for visualization of causative variants in rare monogenic disorders using whole genome sequencing data
T. Stokowy, Mateusz Garbulowski, T. Fiskerstrand, Rita Holdhus +8 more
2016Bioinform.6 citations Open access
Semantic Scholar
Direct data transfer between SOAP web services in orchestration
Sattanathan Subramanian, P. Sztromwasser, Kjell Petersen, P. Puntervoll
2012International Conference on Information Integration and Web-based Applications & Services6 citations Open access
Semantic Scholar
Case report: The cardio-facio-cutaneous syndrome due to a novel germline mutation in MAP2K1: A multifaceted disease with immunodeficiency and short stature
A. Szczawińska-Popłonyk, Natalia Popłonyk, M. Niedziela, Anna Sowińska-Seidler +3 more
2022Frontiers in Pediatrics5 citations Open access
Semantic Scholar
‘The Thousand Polish Genomes Project’ - a national database of Polish variant allele frequencies
E. Kaja, Adrian Lejman, D. Sielski, M. Sypniewski +24 more
2021bioRxiv5 citations Open access
Semantic Scholar
No evidence for rare TRAP1 mutations influencing the risk of idiopathic Parkinson’s disease
Johannes J Gaare, G. Nido, P. Sztromwasser, P. Knappskog +7 more
2018Brain : a journal of neurology5 citations Open access
Semantic Scholar
Pipelined data-flow delegated orchestration for data-intensive eScience workflows
Sattanathan Subramanian, P. Sztromwasser, P. Puntervoll, Kjell Petersen
2013International Journal of Web Information Systems5 citations
Semantic Scholar
Optimizing the Data-Traffic of Centrally Coordinated Scientific Workflow Systems
Sattanathan Subramanian, P. Puntervoll, P. Sztromwasser
2010IEEE International Conference on Web Services5 citations
Semantic Scholar
Validation of HER2 Status in Whole Genome Sequencing Data of Breast Cancers with the Ploidy-Corrected Copy Number Approach
M. Wojtaszewska, Rafał Stępień, A. Woźna, M. Piernik +8 more
2021Molecular Diagnosis & Therapy3 citations Open access
Semantic Scholar
Throughput and robustness of bioinformatics pipelines for genome-scale data analysis
P. Sztromwasser
20143 citations
Semantic Scholar
Improved response prediction to immune checkpoint inhibition by combining TMB and WGS-based genomic features in NSCLC.
K. Pacewicz, A. Kraszewski, M. Medzin, P. Nawrocka-Muszynska +7 more
2022Journal of Clinical Oncology2 citations
Semantic Scholar
Population WGS-based spinal muscular atrophy carrier screening in a cohort of 1076 healthy Polish individuals
M. Sypniewski, Dominika Kresa, P. Dobosz, P. Topolski +3 more
2022Journal of Applied Genetics2 citations Open access
Semantic Scholar
Analysis of Single Nucleotide Variants (SNVs) Induced by Passages of Equine Influenza Virus H3N8 in Embryonated Chicken Eggs
W. Rożek, M. Kwaśnik, W. Socha, P. Sztromwasser +1 more
2021Viruses2 citations Open access
Semantic Scholar
DBFE: distribution-based feature extraction from structural variants in whole-genome data
M. Piernik, D. Brzeziński, P. Sztromwasser, K. Pacewicz +6 more
2022Bioinform.1 citations
Semantic Scholar
Remus: A Web Application for Prioritization of Regulatory Regions and Variants in Monogenic Diseases
P. Sztromwasser, Damian Skrzypczak, A. Michalak, W. Fendler
2021Frontiers in Genetics1 citations Open access
Semantic Scholar
Accuracy of somatic variant detection workflows for whole genome sequencing experiments
R. Jaksik, Jacek Rosiak, P. Zawadzki, P. Sztromwasser
2021bioRxiv1 citations Open access
Semantic Scholar
Microhomology-Driven Genomic Alterations in Cancer Genomes: Patterns, Prevalence, and Clinical Implications
D. Kostka, P. Sztromwasser, Marek Kimmel, R. Jaksik
2026bioRxiv0 citations Open access
Semantic Scholar
The cancer-risk variant frequency among Polish population reported by the first national whole-genome sequencing study
M. Mroczek, Jakub Liu, M. Sypniewski, T. Pieńkowski +14 more
2023Frontiers in Oncology0 citations Open access
Semantic Scholar
Clinical and laboratory diversity of diffuse large B-cell lymphomas in children with Nijmegen breakage syndrome
A. Pastorczak, B. Szmyd, Marcin Braun, J. Madzio +13 more
2023Haematologica0 citations Open access
Semantic Scholar
1082P Improved response prediction to immune checkpoint inhibitors by combining TMB and WGS-driven genomic features in NSCLC
P. Nawrocka-Muszynska, K. Pacewicz, M. Medzin, P. Sztromwasser +9 more
2022Annals of Oncology0 citations Open access
Semantic Scholar
15P Integration of whole genome data with machine learning technology in breast cancer subtyping
W. Majer-Burman, K. Pacewicz, M. Meler, M. Gniot +5 more
2022Annals of Oncology0 citations Open access
Semantic Scholar
WHOLE GENOME SEQUENCING REVEALS MOLECULAR HETEROGENEITY OF DIFFUSE B-CELL LYMPHOMAS IN CHILDREN WITH NIJMEGEN BREAKAGE SYNDROME
A. Pastorczak, P. Sztromwasser, M. Wojtaszewska, J. Madzio +10 more
2022Leukemia research : a Forum for Studies on Leukemia and Normal Hemopoiesis0 citations
Semantic Scholar
DBFE: Distribution-based feature extraction from copy number and structural variants in whole-genome data
M. Piernik, D. Brzeziński, P. Sztromwasser, K. Pacewicz +5 more
2022bioRxiv0 citations Open access
Semantic Scholar
Validation of HER2 Status in Whole Genome Sequencing Data of Breast Cancers with the Ploidy-Corrected Copy Number Approach
M. Wojtaszewska, Rafał Stępień, A. Woźna, M. Piernik +8 more
2021Molecular Diagnosis & Therapy0 citations Open access
Semantic Scholar
1134P Personalized medicine in advanced breast cancer: AI-driven genomic test for CDK4/6 treatment response prediction
P. Zawadzki, A. Woźna, P. Sztromwasser, W. Majer-Burman +7 more
2021Annals of Oncology0 citations Open access
Semantic Scholar
1209P A new, whole-genome-based PARPi profiler (_ALICE) demonstrates unprecedented efficiency in patient selection for PARPi therapy
P. Zawadzki, A. Piotrowska, M. Wojtaszewska, P. Sztromwasser
20200 citations Open access
Semantic Scholar
PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema
C. Tzoulis, P. Sztromwasser, S. Johansson, I. O. Gjerde +2 more
2016Cerebellum0 citations Open access
Semantic Scholar

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