Maria Clara Bonaglia

10PUBLICATIONS
32CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Art history, theory and criticism not elsewhere classifiedNeurology and neuromuscular diseasesNeurogeneticsHaematological tumours
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Publications (10)

|Jun 26, 2026
TRAPPC9-Related Intellectual Developmental Disorder: A Systematic Review and a Novel Case of a Complex Structural Variant.

|Nov 27, 2025
Chromothriptic Translocation t(1;18): A Paradigm of Genomic Complexity in a Child with Normal Intellectual Development and Pyridoxine-Dependent Epilepsy.

Raffaele Falsaperla, Eliana Salvo, Annamaria Sapuppo

|Jun 04, 2025
Constitutional copy number amplifications: rare or under-evaluated? Revisiting a 25-year-old cold case.

Eliana Salvo, Romano Tenconi, Roberto Giorda

|Nov 27, 2024
Small Complex Rearrangement in HINT1-Related Axonal Neuropathy.

Alessandra Tessa, Mariapaola Schifino, Eliana Salvo

|Apr 11, 2024
Further evidence supporting the role of GTDC1 in glycine metabolism and neurodevelopmental disorders.

Edoardo Errichiello, Mauro Lecca, Chiara Vantaggiato

|Feb 22, 2023
Trait - driven analysis of the 2p15p16.1 microdeletion syndrome suggests a complex pattern of interactions between candidate genes.

Martina Miceli, Pinella Failla, Lucia Saccuzzo

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Frequent Collaborators

4 joint publications

Eliana Salvo

2 joint publications

Edoardo Errichiello

2 joint publications

Sara Bertuzzo

2 joint publications

Marco Fichera