Guessing
no more

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.

Filter by tag:

Rare Disease

Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples

M.H. Bailey, D. Glodzik, L. Ding & PCAWG Consortium et al.

DOI

https://doi.org/10.1038/s41467-020-18151-y

WGS

WES

Cancer Genomics

Rare Disease

Journal

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

Advances in therapeutic use of a drug-stimulated translational readthrough of premature termination codons

M. Dabrowski, Z. Bukowy-Bieryllo & E. Zietkiewicz

DOI

Translational readthrough

Rare Disease

personalized therapy

nonsense suppression

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