Concepedia

Valerio Conti

VC

Statistics

Publications

45

Citations

2.8K

H-Index

29

Active since

2006

Affiliations

Meyer Children's Hospital(Current)

University of Florence

Fondazione Stella Maris

University of Genoa

Istituti di Ricovero e Cura a Carattere Scientifico

Valerio Conti is an author at Meyer Children's Hospital specializing in genetics, life sciences, and medicine.

ORCID

Publications per year

2006–2023

45

Publications

45

Association of <i>MTOR</i> Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism

Ghayda Mirzaa, Catarina D. Campbell, Nadia Solovieff et al. · JAMA Neurology · 2016 · 276 citations · Full text

, , +17

The landscape of epilepsy-related GATOR1 variants

Sara Baldassari, Fabienne Picard, Nienke E. Verbeek et al. · Genetics in Medicine · 2018 · 239 citations · Full text

, , +17

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

Germline and somatic mutations in the <i>MTOR</i> gene in focal cortical dysplasia and epilepsy

Rikke S. Møller, Sarah Weckhuysen, Mathilde Chipaux et al. · Neurology Genetics · 2016 · 156 citations · Full text

, , +17

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly

Nataliya Di Donato, Andrew E. Timms, Kimberly A. Aldinger et al. · Genetics in Medicine · 2018 · 136 citations · Full text

, , +10

1–5 of 45