Livia Garavelli
Azienda Sanitaria Unità Locale di Reggio Emilia(IT)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Congenital gastrointestinal and neural anomalies, Congenital heart defects research
Most-Cited Works
- → Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome(2012)243 cited
- → PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution(2016)185 cited
- → Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, but Not Ollier Disease or Maffucci Syndrome(2011)166 cited
- → NANS-mediated synthesis of sialic acid is required for brain and skeletal development(2016)164 cited
- → Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome(2014)160 cited
- → Mowat-Wilson syndrome(2007)158 cited
- → PRKACB and Carney Complex(2014)