Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical SpectrumMarialetizia Motta, Marco Tartaglia, Francesca Clementina Radio et al.|The American Journal of Human Genetics|2020Cited by 95
Heterozygous nonsense <i>ARX</i> mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co‐inheritanceAlice Traversa, Viviana Caputo, Enrica Marchionni et al.|Molecular Genetics & Genomic Medicine|2020Cited by 4