Fabio Sirchia

15PUBLICATIONS
106CO-AUTHORS
Fairness, accountability, transparency, trust and ethics of computer systemsPhotonics, optoelectronics and optical communicationsGene expression (incl. microarray and other genome-wide approaches)Gene mappingNeurology and neuromuscular diseases
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Publications (15)

|Nov 04, 2026
Comprehensive classification of HCN1 variants linked to neurodevelopmental disorders with and without epilepsy.

|Aug 10, 2026
Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum.

|Oct 29, 2025
Expanding Clinical and Genetic Landscape of SATB2-Associated Syndrome.

Verdiana Pullano, Federico Rondot, Ilaria Carelli

|Oct 29, 2025
Bridging Genotype to Phenotype in KMT5B-Related Syndrome: Evidence from RNA-Seq, 18FDG-PET, Clinical Deep Phenotyping in Two New Cases, and a Literature Review.

Davide Politano, Renato Borgatti, Giulia Borgonovi

|Jul 29, 2025
Expanding the Phenotypic Spectrum Associated with DPH5-Related Diphthamide Deficiency.

Davide Politano, Cecilia Mancini, Massimiliano Celario

|Jul 04, 2025
Pulmonary Arterial Hypertension Onset in an Adult Woman With a TBX4 Likely Pathogenic Variant Following Imatinib Administration: A Case Report.

Simone Carbonera, Laura Scelsi, Alessandra Greco

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Frequent Collaborators

3 joint publications

Silvia Kalantari

3 joint publications

Enza Maria Valente

3 joint publications

Davide Politano

2 joint publications

Cesare Danesino