Publications by authors named "Sandra Vorimo"

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Structural Variant Analysis of Complex Karyotype Myelodysplastic Neoplasia Through Optical Genome Mapping.
Andriana Valkama, Sandra Vorimo, Anna Tervasmäki, Hannele Räsänen, Eeva-Riitta Savolainen

Genes Chromosomes Cancer· January 2025

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Optical Genome Mapping Identifies a Second Xq27.1 Rearrangement Associated With Charcot-Marie-Tooth Neuropathy CMTX3.
Elisa Rahikkala, Jonna Komulainen-Ebrahim, Jussi-Pekka Tolonen, Sandra Vorimo, Maria Suo-Palosaari

Mol Genet Genomic Med· September 2024

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Exome sequencing identified rare recurrent copy number variants and hereditary breast cancer susceptibility.
Timo A Kumpula, Sandra Vorimo, Taneli T Mattila, Luke O'Gorman, Galuh Astuti

PLoS Genet· August 2023

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Evaluating the role of CHEK2 p.(Asp438Tyr) allele in inherited breast cancer predisposition.
Timo A Kumpula, Susanna Koivuluoma, Leila Soikkonen, Sandra Vorimo, Jukka Moilanen

Fam Cancer· July 2023

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Optical Genome Mapping as an Alternative to FISH-Based Cytogenetic Assessment in Chronic Lymphocytic Leukemia.
Andriana Valkama, Sandra Vorimo, Timo A Kumpula, Hannele Räsänen, Eeva-Riitta Savolainen

Cancers (Basel)· February 2023

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Truncating TINF2 p.Tyr312Ter variant and inherited breast cancer susceptibility.
Susanna Koivuluoma, Sandra Vorimo, Tiina M Mattila, Anna Tervasmäki, Timo Kumpula

Fam Cancer· January 2023

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