Livia Garavelli

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

J. K. J. VAN HOUDT, Beata Nowakowska, Sérgio B. Sousa et al. · Nature Genetics · 2012 · 243 citations

Mendelian Disorder, Genetic Disorder, Medicine +5

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

Ghayda Mirzaa, Andrew E. Timms, Valerio Conti et al. · JCI Insight · 2016 · 182 citations · Full text

Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, but Not Ollier Disease or Maffucci Syndrome

Margot E. Bowen, Eric D. Boyden, Ingrid A. Holm et al. · PLoS Genetics · 2011 · 165 citations · Full text

Multiple Enchondromatosis Syndromes, Genetics, Pathology +17

NANS-mediated synthesis of sialic acid is required for brain and skeletal development

Clara van Karnebeek, Luisa Bonafé, Xiao‐Yan Wen et al. · Nature Genetics · 2016 · 163 citations · Full text

Developmental Biology, Biochemistry, Brain Development +7

Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome

Mariëlle Alders, Lihadh Al‐Gazali, Isabelle Bezerra Cordeiro et al. · Human Genetics · 2014 · 160 citations

Hennekam Syndrome, Mendelian Disorder, Autoimmune Disease +9