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Paweł Sztromwasser

University of Bergen

20

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393

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1134P Personalized medicine in advanced breast cancer: AI-driven genomic test for CDK4/6 treatment response prediction

2021 Annals of Oncology
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The Thousand Polish Genomes Project- a national database of Polish variant allele frequencies

2021 bioRxiv
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Meta-analysis of whole-exome sequencing data from two independent cohorts finds no evidence for rare variant enrichment in Parkinson disease associated loci.

2020 PLOS ONE
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No evidence for rare TRAP1 mutations influencing the risk of idiopathic Parkinson’s disease

2018 Brain
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No evidence for rare TRAP1 mutations influencing the risk of idiopathic Parkinson’s disease

2018 Brain
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Rare genetic variation in mitochondrial pathways influences the risk for Parkinson's disease

2018 Movement Disorders
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PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema.

2017 The Cerebellum
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Targeted next-generation sequencing reveals MODY in up to 6.5% of antibody-negative diabetes cases listed in the Norwegian Childhood Diabetes Registry

2017 Diabetologia
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Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration

2016 Embo Molecular Medicine
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RareVariantVis: new tool for visualization of causative variants in rare monogenic disorders using whole genome sequencing data

2016 Bioinformatics
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