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- 2015
- An abnormally glycosylated isoform of erythropoietin in hemangioblastoma is associated with polycythemia
- 2014
- DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers
- A vestibular schwannoma in a patient with Birt-Hogg-Dube syndrome
- Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder
- Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations
- 2013
- Lhermitte-Duclos disease with obstructive hydrocephalus: an illustrative case treated with endoscopic ventriculo-cisternostomy
- Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk
- Radiation-induced myosin IIA expression stimulates collagen type I matrix reorganization
- Development of an S-G2 micronucleus assay for the detection of in vitro chromosomal radiosensitivity in high-risk women subjected to early mammography screening for breast cancer
- Variant ataxia telangiectasia: clinical and molecular findings and evaluation of radiosensitive phenotypes in a patient and relatives