Francesca Clementina Radio

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Birte Zurek, Kornelia Ellwanger, Lisenka E.L.M. Vissers et al. · European Journal of Human Genetics · 2021 · 100 citations · Full text

Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum

Marialetizia Motta, Luca Pannone, Francesca Pantaleoni et al. · The American Journal of Human Genetics · 2020 · 94 citations · Full text

Neurodevelopmental Disorders, Developmental Biology, Genetic Disorder +10

Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome

Christiane K. Bauer, Paolo Calligari, Francesca Clementina Radio et al. · The American Journal of Human Genetics · 2018 · 91 citations · Full text

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

Francesca Clementina Radio, Kaifang Pang, Andrea Ciolfi et al. · The American Journal of Human Genetics · 2021 · 80 citations · Full text

Down Syndrome, Deletion Syndrome, Developmental Biology +11

SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype

Marialetizia Motta, Giulia Fasano, Sina Gredy et al. · The American Journal of Human Genetics · 2021 · 77 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +6