Emanuele Agolini

Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia

Michail Spiliopoulos, Francesco Brancati, Eric Powell et al. · The American Journal of Human Genetics · 2011 · 262 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas

Valentina Pinna, Paola Daniele, Federica Consoli et al. · European Journal of Human Genetics · 2014 · 135 citations · Full text

Medicine, Genetics, Molecular Genetics +9

Mutations in PVRL4, Encoding Cell Adhesion Molecule Nectin-4, Cause Ectodermal Dysplasia-Syndactyly Syndrome

Francesco Brancati, Paola Fortugno, Irene Bottillo et al. · The American Journal of Human Genetics · 2010 · 122 citations · Full text

Medicine, Genetics, Molecular Genetics +12

COVID-19 and Genetic Variants of Protein Involved in the SARS-CoV-2 Entry into the Host Cells

Andrea Latini, Emanuele Agolini, Antonio Novelli et al. · Genes · 2020 · 114 citations · Full text

Life Sciences, Genetics, Infectious Diseases +13

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

Holly K. Harris, Tojo Nakayama, Jenny Lai et al. · Genetics in Medicine · 2021 · 91 citations · Full text

Medicine, Genetics, Molecular Genetics +16