Andrea Ciolfi

19PUBLICATIONS
225CO-AUTHORS
Neurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)Solid tumoursNeurogeneticsCentral nervous system
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Publications (19)

|Jul 16, 2025
Missense variants in TUBA4A cause myo-tubulinopathies.

Mridul Johari, Chiara Folland, Yoshihiko Saito

|May 23, 2025
Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci.

Mathis Hildonen, Andrea Ciolfi, Marco Ferilli

|May 19, 2025
Wnt/β-catenin activation by mutually exclusive FBXW11 and CTNNB1 hotspot mutations drives salivary basal cell adenoma.

Kim Wong, Justin A Bishop, Ilan Weinreb

|Feb 26, 2025
Expanding the mutational spectrum of ReNU syndrome: insights into 5' Stem-loop variants.

Alessandro Bruselles, Cecilia Mancini, Luigi Chiriatti

|Oct 31, 2024
Brain malformations and seizures by impaired chaperonin function of TRiC.

Florian Kraft, Piere Rodriguez-Aliaga, Weimin Yuan

|Jun 01, 2024
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.

Maria Lisa Dentici, Marcello Niceta, Francesca Romana Lepri

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Frequent Collaborators

17 joint publications

Marco Tartaglia

6 joint publications

Marcello Niceta

6 joint publications

Francesca Clementina Radio

3 joint publications

Zeynep Tümer