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International Journal of Cancer|February 28, 2019
Tumor suppressor MCPH1 regulates gene expression profiles related to malignant conversion and chromosomal assemblyAnna Tervasmäki, Tuomo Mantere, Leila Eshraghi, 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.
Circulation|June 20, 2018
Primary Myocardial Fibrosis as an Alternative Phenotype Pathway of Inherited Cardiac Structural DisordersM Juhani Junttila, Lauri Holmström, Katri Pylkäs, et al.
International Journal of Cancer|January 18, 2018
Rare missense mutations in RECQL and POLG associate with inherited predisposition to breast cancerAnna Tervasmäki, Tuomo Mantere, Jaana M Hartikainen, et al.
Scientific Reports|October 6, 2018
Mutation of TP53, translocation analysis and immunohistochemical expression of MYC, BCL-2 and BCL-6 in patients with DLBCL treated with R-CHOPPekka Peroja, Mette Pedersen, Tuomo Mantere, et al.
American Journal of Human Genetics|July 8, 2021
Next-generation cytogenetics: Comprehensive assessment of 52 hematological malignancy genomes by optical genome mappingKornelia Neveling, Tuomo Mantere, Susan Vermeulen, 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.
International Journal of Cancer|August 21, 2016
FANCM c.5101C>T mutation associates with breast cancer survival and treatment outcomeJohanna I Kiiski, Rainer Fagerholm, Anna Tervasmäki, et al.
HGG Advances|May 22, 2023
A complex structural variant near <i>SOX3</i> causes X-linked split-hand/foot malformationElke de Boer, Carlo Marcelis, Kornelia Neveling, et al.
Breast Cancer Research and Treatment|July 14, 2017
FANCM mutation c.5791C>T is a risk factor for triple-negative breast cancer in the Finnish populationJohanna I Kiiski, Anna Tervasmäki, Liisa M Pelttari, et al.
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