Johanna Tommiska
Blueprint Genetics (Finland)(FI)
Publications by Year
Research Areas
Hypothalamic control of reproductive hormones, Cancer-related Molecular Pathways, DNA Repair Mechanisms, Cardiomyopathy and Myosin Studies, BRCA gene mutations in cancer
Most-Cited Works
- → 53BP1 loss rescues BRCA1 deficiency and is associated with triple-negative and BRCA-mutated breast cancers(2010)1,017 cited
- → The combined status of ATM and p53 link tumor development with therapeutic response(2009)299 cited
- → Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy(2011)252 cited
- → NAD(P)H:quinone oxidoreductase 1 NQO1*2 genotype (P187S) is a strong prognostic and predictive factor in breast cancer(2008)208 cited
- → Incidence, Phenotypic Features and Molecular Genetics of Kallmann Syndrome in Finland(2011)192 cited
- → Breast Cancer Patients with p53 Pro72 Homozygous Genotype Have a Poorer Survival(2005)166 cited
- → Genetic Overlap in Kallmann Syndrome, Combined Pituitary Hormone Deficiency, and Septo-Optic Dysplasia(2012)162 cited
- → Aberrations of the MRE11–RAD50–NBS1 DNA damage sensor complex in human breast cancer: MRE11 as a candidate familial cancer‐predisposing gene(2008)160 cited
- → The DNA damage signalling kinase ATM is aberrantly reduced or lost in BRCA1/BRCA2-deficient and ER/PR/ERBB2-triple-negative breast cancer(2007)113 cited
- → The single-nucleotide polymorphism 309 in the MDM2 gene contributes to the Li–Fraumeni syndrome and related phenotypes(2006)100 cited