- Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy2002 | Second Faculty of Medicine
- A mutation in the c-Fos gene associated with congenital generalized lipodystrophy2013 | Second Faculty of Medicine
- Prevalence of mutations in AGPAT2 among human lipodystrophies2003 | Second Faculty of Medicine
- Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study2008 | Second Faculty of Medicine