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Genes, Chromosomes & Cancer|January 26, 2025
Structural Variant Analysis of Complex Karyotype Myelodysplastic Neoplasia Through Optical Genome MappingAndriana Valkama, Sandra Vorimo, Anna Tervasmäki, et al.
Familial Cancer|January 18, 2023
Evaluating the role of CHEK2 p.(Asp438Tyr) allele in inherited breast cancer predispositionTimo A Kumpula, Susanna Koivuluoma, Leila Soikkonen, et al.
Cancers|February 25, 2023
Optical Genome Mapping as an Alternative to FISH-Based Cytogenetic Assessment in Chronic Lymphocytic LeukemiaAndriana Valkama, Sandra Vorimo, Timo A Kumpula, et al.
International Journal of Cancer|May 14, 2026
Optical Genome Mapping Reveals Frequent Cryptic Structural Aberrations in Normal Karyotype Acute Myeloid LeukemiaTuuni Turtinen, Andriana Valkama, Christopher Wray, et al.
Familial Cancer|May 19, 2022
Truncating TINF2 p.Tyr312Ter variant and inherited breast cancer susceptibilitySusanna Koivuluoma, Sandra Vorimo, Tiina M Mattila, et al.
Molecular Genetics & Genomic Medicine|September 21, 2024
Optical Genome Mapping Identifies a Second Xq27.1 Rearrangement Associated With Charcot-Marie-Tooth Neuropathy CMTX3Elisa Rahikkala, Jonna Komulainen-Ebrahim, Jussi-Pekka Tolonen, et al.
Plos Genetics|August 14, 2023
Exome sequencing identified rare recurrent copy number variants and hereditary breast cancer susceptibilityTimo A Kumpula, Sandra Vorimo, Taneli T Mattila, et al.
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