Concepedia

Livia Garavelli

LG

Statistics

Publications

95

Citations

4.3K

H-Index

35

Active since

1999

Affiliations

Istituti di Ricovero e Cura a Carattere Scientifico(Current)

Azienda Sanitaria Unità Locale di Reggio Emilia

University of Modena and Reggio Emilia

Santa Maria Nuova Hospital

University of Parma

Livia Garavelli is an author at Istituti di Ricovero e Cura a Carattere Scientifico specializing in genetics, human genetics, and life sciences.

ORCID

Publications per year

1999–2024

95

Publications

95

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

J. K. J. VAN HOUDT, Beata Nowakowska, Sérgio B. Sousa et al. · Nature Genetics · 2012 · 244 citations

, , +10

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 · 190 citations · Full text

, , +17

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 · 168 citations · Full text

, , +16

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 · 166 citations · Full text

, , +8

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 · 165 citations

, , +5

1–5 of 95