Division of Clinical Genetics
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- 2018
- De novo activating mutations drive clonal evolution and enhance clonal fitness in KMT2A-rearranged leukemia
- Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility
- The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant : Breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium
- Inferior survival for patients with malignant peripheral nerve sheath tumors defined by aberrant TP53
- CD36 defines primitive chronic myeloid leukemia cells less responsive to imatinib but vulnerable to antibody-based therapeutic targeting
- Utvidgad anlagsbärartestning kan bredda fosterdiagnostiken - Recessiva sjukdomsanlag kan kartläggas hos friska personer inför planerad graviditet
- A field guide for cancer diagnostics using cell-free DNA : From principles to practice and clinical applications
- Generation of a human induced pluripotent stem cell line (CSC-40) from a Parkinson's disease patient with a PINK1 p.Q456X mutation
- Discontinuation of tyrosine kinase inhibitor therapy in chronic myeloid leukaemia (EURO-SKI) : a prespecified interim analysis of a prospective, multicentre, non-randomised, trial
- Four evolutionary trajectories underlie genetic intratumoral variation in childhood cancer