Simone Pizzi

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

Erfan Aref‐Eshghi, Jennifer Kerkhof, Victor P. Pedro et al. · The American Journal of Human Genetics · 2020 · 309 citations · Full text

Neurodevelopmental Disorders, Mendelian Disorder, Epigenetic Change +11

Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases

Ludovica Grassi, Romina Alfonsi, Federica Francescangeli et al. · Cell Death and Disease · 2019 · 156 citations · Full text

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

Michael A. Levy, Haley McConkey, Jennifer Kerkhof et al. · Human Genetics and Genomics Advances · 2021 · 149 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