Laura Castilla‐Vallmanya

Detecting and targeting senescent cells using molecularly imprinted nanoparticles

Akang E. Ekpenyong‐Akiba, Francesco Canfarotta, B. H. et al. · Nanoscale Horizons · 2019 · 101 citations · Full text

Nanoparticles, Nanomedicine, Engineering +12

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

Laura Castilla‐Vallmanya, Kaja Kristine Selmer, Clémantine Dimartino et al. · Genetics in Medicine · 2020 · 32 citations · Full text

Biology, Medicine, Genetics +12

Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum

Roser Urreizti, Estrella López‐Martín, Antonio Federico Martínez‐Monseny et al. · Orphanet Journal of Rare Diseases · 2020 · 31 citations · Full text

DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients

Roser Urreizti, Klaus Mayer, Gilad D. Evrony et al. · European Journal of Human Genetics · 2019 · 25 citations · Full text

Urology, Mendelian Disorder, Novel Variants +9

A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome

Roser Urreizti, Sarah Damanti, Carla Esteve et al. · Scientific Reports · 2018 · 16 citations · Full text