Division of Clinical Genetics
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- 2019
- Clinicians’ use of breast cancer risk assessment tools according to their perceived importance of breast cancer risk factors : an international survey
- Massively Parallel Sequencing of Gene Fusion-Associated Sarcomas
- Genetic predisposition to B-cell acute lymphoblastic leukemia at 14q11.2 is mediated by a CEBPE promoter polymorphism
- The Iroquois homeobox proteins IRX3 and IRX5 have distinct roles in Wilms tumour development and human nephrogenesis
- 2018
- Patient-derived xenograft models reveal intratumor heterogeneity and temporal stability in neuroblastoma
- Whole-exome sequencing exploration of acquired uniparental disomies in B-cell precursor acute lymphoblastic leukemia
- 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
- BRCAsearch : written pre-test information and BRCA1/2 germline mutation testing in unselected patients with newly diagnosed breast cancer
- 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