Lucia Pedace

Modeling medulloblastoma in vivo and with human cerebellar organoids

Claudio Ballabio, Marica Anderle, Matteo Gianesello et al. · Nature Communications · 2020 · 175 citations · Full text

Medicine, Molecular Biology, Oncology +17

ALS5/SPG11/<i>KIAA1840</i>mutations cause autosomal recessive axonal Charcot–Marie–Tooth disease

Celeste Montecchiani, Lucia Pedace, Temistocle Lo Giudice et al. · Brain · 2015 · 100 citations · Full text

Life Sciences, Genetics, Neurology +14

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 · 90 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature

Andrea Ciolfi, Erfan Aref‐Eshghi, Simone Pizzi et al. · Clinical Epigenetics · 2020 · 60 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Role of DNA Methylation Profile in Diagnosing Astroblastoma: A Case Report and Literature Review

Giuseppe Petruzzellis, Iside Alessi, Giovanna Stefania Colafati et al. · Frontiers in Genetics · 2019 · 58 citations · Full text

Medicine, Neurology, Oncology +16