Pablo Villavicencio‐Lorini

Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits

Denise Horn, Johannes Kapeller, Núria Rivera‐Bruguès et al. · Human Mutation · 2010 · 138 citations · Full text

Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation

Karim Kouz, Stephanie Spranger, Diana Mitter et al. · Genetics in Medicine · 2016 · 104 citations · Full text

Mendelian Disorder, Autoimmune Disease, Genetic Disorder +7

Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4

Pablo Villavicencio‐Lorini, Eva Klopocki, Marc Trimborn et al. · European Journal of Human Genetics · 2012 · 90 citations · Full text

Mendelian Disorder, Psychiatry, Genetic Disorder +9

Homeobox genes d11–d13 and a13 control mouse autopod cortical bone and joint formation

Pablo Villavicencio‐Lorini, Pia Kuss, Julia Friedrich et al. · Journal of Clinical Investigation · 2010 · 86 citations · Full text

The GID ubiquitin ligase complex is a regulator of AMPK activity and organismal lifespan

Huaize Liu, Jie Ding, Karl Köhnlein et al. · Autophagy · 2019 · 70 citations · Full text