Maja Di Rocco

Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i>

Yanick J. Crow, Diana Chase, Johanna L. Schmidt et al. · American Journal of Medical Genetics Part A · 2015 · 589 citations · Full text

Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II.

E. Natt, Kaichi Kida, M Odièvre et al. · Proceedings of the National Academy of Sciences · 1992 · 85 citations

Genetics, Genetic Epidemiology, Molecular Biology +24

<i>EXTL3</i> mutations cause skeletal dysplasia, immune deficiency, and developmental delay

Stefano Volpi, Yasuhiro Yamazaki, Patrick M. Brauer et al. · The Journal of Experimental Medicine · 2017 · 82 citations · Full text

Clinical and genetic characterization of Chanarin–Dorfman syndrome

Claudio Bruno, Enrico Bertini, Maja Di Rocco et al. · Biochemical and Biophysical Research Communications · 2008 · 78 citations

Genetic Disorder, Genetics, Chanarin–dorfman Syndrome +4

Cholesteryl Ester Storage Disease (CESD) due to novel mutations in the LIPA gene

Livia Pisciotta, Raffaele Fresa, Antonella Bellocchio et al. · Molecular Genetics and Metabolism · 2009 · 77 citations · Full text

Biochemistry, Genetics, Novel Mutations +6