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- 2017
- The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
- Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly
- 2016
- Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170
- Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants
- Genetic predisposition for beta cell fragility underlies type 1 and type 2 diabetes
- Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity
- 2015
- Identification of six new susceptibility loci for invasive epithelial ovarian cancer
- Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export
- The genome sequence of the orchid Phalaenopsis equestris
- Mutational dynamics between primary and relapse neuroblastomas