Massimiliano Rossi

20PUBLICATIONS
174CO-AUTHORS
Molecular targetsNeurology and neuromuscular diseasesGene expression (incl. microarray and other genome-wide approaches)Nutritional epidemiologyCross-sectional analysis
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Publications (20)

|May 18, 2026
Trametinib for multiple non-ossifying fibromas due to KRAS mosaic mutations: two case reports.

|Mar 30, 2026
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Elsa Leitão, Amandine Santini, Benjamin Cogne

|Mar 26, 2026
DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals.

Quentin Sabbagh, Camille Cenni, Sadegheh Haghshenas

|Jan 13, 2026
Biallelic variants in CELSR1 cause brain malformations, neurodevelopmental disorders and epilepsy in humans.

Claudia M Bonardi, Rikke S Møller, Nuria Ruiz-Reig

|Dec 21, 2024
Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG).

Mohammad-Reza Ghasemi, Sahand Tehrani Fateh, Afif Ben-Mahmoud

|Jul 01, 2024
Elastin turnover in Williams-Beuren and 7q11.23 microduplication syndromes.

Alexandre Guilhem, Severine Ruet, Patrick Edery

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Frequent Collaborators

7 joint publications

Nicolas Chatron

6 joint publications

Gaëtan Lesca

5 joint publications

Laurence Faivre

4 joint publications

Ange-Line Bruel