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Publications

Each day our team contributes to the world of discovery and science. It is a vast database of expertise that has a tremendous impact on the world of biotechnology, personalised medicine, genome discovery and cancer treatment.

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Diagnostics

The First Report of Biallelic Missense Mutations in the SFRP4 Gene Causing Pyle Disease in Two Siblings

A. Sowińska-Seidler, P. Sztromwasser, K. Zawadzka, P. Zawadzki, K. Kozłowski, A. Jamsheer et al.

DOI

https://doi.org/10.3389/fgene.2020.593407

Rare Disease

Diagnostics

WGS

Journal

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

B.B. Johansson, P. Sztromwasser, S.Johansson & P.R. Njolstad et al.

DOI

https://doi.org/10.1007/s00125-016-4167-1

Journal

Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathyons regarding using clustering as feature extraction for classification.

I.Flones, P. Sztromwasser, L. A. Bindoff, C. Tzoulis et al.

DOI

https://doi.org/10.1371/journal.pone.0149055

Journal

Variant-specific discrepancy when quantitating BCR-ABL1 e13a2 and e14a2 transcripts using the Europe Against Cancer qPCR assay

L. Kjaer, M. Gniot, H. Hasselbalch, N. Pallisgaard et al.

DOI

https://doi.org/10.1111/ejh.13238

Journal

Potential Approaches and Recent Advances in Biomarker Discovery in Clear-Cell Renal Cell Carcinomay applicable in the detection and monitoring of renal cancer and its subtypes.

W. Majer-Burmann, K. Kluzek, H. Bluyssen and J. Wesoly

DOI

http://10.7150/jca.12145

Journal

Compound heterozygous GLI3 variants in siblings with thyroid hemiagenesis

E. Szczepanek-Parulska, K. Zawadzka, P. Sztromwasser, M. Ruchala et al.

DOI

https://doi.org/10.1007/s12020-020-02422-1