Marco Tartaglia

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Head

Ospedale Pediatrico Bambino Gesù

Italy

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About

Marco Tartaglia is the Head at Ospedale Pediatrico Bambino Gesù in Italy. His research focuses on various aspects of genetic disorders, particularly those affecting neurodevelopment and ocular pathology, as evidenced by his recent publications on Angelman Syndrome, retinitis pigmentosa, and RASopathies. He is actively involved in advancing molecular characterizations and proposing recommendations for patient care within the realm of genetic syndromes.

Recent Grants

Grant: Close

Discovery and functional characterization of novel molecular mechanisms and circuits causing RAS signaling upregulation

Open Date: 2019-01-01

Close Date: 2022-12-01

Grant: Close

Discovery and functional characterization of novel molecular mechanisms promoting RAS signaling upregulation

Open Date: 2016-01-01

Close Date: 2018-01-01

Grant: Close

European network on Noonan syndrome and related disorders

Open Date: 2016-01-01

Close Date: 2018-01-01

Grant: Close

From bench to bedside: an integrated approach to RASopathies

Open Date: 2015-01-01

Close Date: 2017-01-01

Grant: Close

Integrative genomics strategies to ascertain novel molecular mechanisms promoting oncogenic RAS signaling

Open Date: 2013-01-01

Close Date: 2015-01-01

Articles (10)

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2025

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2024

Collaborators (3)

Maria Luca

University of Turin

ITALY

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Zeynep Tumer

Professor

University of Copenhagen

DENMARK

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Roberta Onesimo

Agostino Gemelli University Polyclinic

ITALY

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Marco Tartaglia

Research Interests

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About

Recent Grants

Articles (10)

Diagnosis of Angelman Syndrome, With 66 Years of Delay, Using Hypothesis‐Free DNA Methylation Profiling

Biallelic <i>BAIAP3</i> Variants Are Associated with Isolated Retinitis Pigmentosa

FishCOLler: Pilot In Vivo Models of COL4A1/A2 Syndrome in Tractable Fish Embryos Recapitulate Neurovascular and Ocular Pathology and Demonstrate Utility for Whole-Organism Variant Testing and Mechanistic Investigation

Expanding the Phenotypic Spectrum Associated with DPH5-Related Diphthamide Deficiency

Molecular Dynamics Simulations of the SPRED2Leu100Pro EVH-1 Domain Complexed with the GAP-Related Domain of Neurofibromin

Recommendations on the Organization of Care for Bulgarian Patients with RASopathies, Adopted Within the Framework of The RASopathies – Unknown Problems and Future Perspectives International Scientific Meeting

Update on the Clinical and Molecular Characterization of Noonan Syndrome and Other RASopathies: A Retrospective Study and Systematic Review

Variable Ophthalmologic Phenotypes Associated with Biallelic Loss-of-Function Variants in <i>POMGNT1</i>

The Arg99Gln Substitution in HNRNPC Is Associated with a Distinctive Clinical Phenotype Characterized by Facial Dysmorphism and Ocular and Cochlear Anomalies

Nerve enlargement in patients with Noonan syndrome: A retrospective cohort study

Collaborators (3)

Maria Luca

Zeynep Tumer

Roberta Onesimo

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