Tommaso Pippucci

8PUBLICATIONS
63CO-AUTHORS
NeurogeneticsEpigenetics (incl. genome methylation and epigenomics)Gene expression (incl. microarray and other genome-wide approaches)NeonatologyNeurology and neuromuscular diseases
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Publications (8)

|Jul 08, 2026
The NeuroWES project: lessons learned from comprehensive phenotyping and genetic analysis of neurodevelopmental disorders over a decade.

|Jul 04, 2026
Diagnostic yield and copy number variants findings in 219 adult patients with developmental and epileptic encephalopathy.

|Oct 08, 2024
Two novel families with RUNX1 variants indicate glycine 168 as a new mutational hotspot: Implications for FPD/AML diagnosis.

Laureano J Kamiya, Serena Barozzi, Federica Isidori

|May 03, 2024
COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction.

Ilaria Pettenuzzo, Sara Carli, Ana Sánchez-Cuesta

|Mar 06, 2023
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes.

Chiara Giovenino, Slavica Trajkova, Lisa Pavinato

|Mar 06, 2021
Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review.

Lisa Pavinato, Slavica Trajkova, Enrico Grosso

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Frequent Collaborators

3 joint publications

Joseph D Buxbaum

3 joint publications

Silvia De Rubeis

3 joint publications

Alfredo Brusco

3 joint publications

Marco Tartaglia