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Frontiers in Genetics|May 29, 2019
Long-Read Sequencing Emerging in Medical GeneticsTuomo Mantere, Simone Kersten, Alexander Hoischen
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.
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.
Breast Cancer Research and Treatment|February 26, 2025
Population-based study of recurrent DNA damage response gene variants in breast cancer casesAnna Tervasmäki, Timo A Kumpula, Mervi Grip, et al.
Plos Genetics|January 29, 2016
Targeted Next-Generation Sequencing Identifies a Recurrent Mutation in MCPH1 Associating with Hereditary Breast Cancer SusceptibilityTuomo Mantere, Robert Winqvist, Saila Kauppila, 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|January 18, 2023
Evaluating the role of CHEK2 p.(Asp438Tyr) allele in inherited breast cancer predispositionTimo A Kumpula, Susanna Koivuluoma, Leila Soikkonen, et al.
Molecular Genetics & Genomic Medicine|September 19, 2020
Evaluating the role of NTHL1 p.Q90* allele in inherited breast cancer predispositionTimo Kumpula, Anna Tervasmäki, Tuomo Mantere, 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 Cytogenetics|December 7, 2025
Optical genome mapping identifies a balanced inversion disrupting DMD in a patient with Duchenne muscular dystrophyTuuni Turtinen, Pirjo Isohanni, Anna-Kaisa Anttonen, et al.
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