Fabio Sirchia

14PUBLICATIONS
91CO-AUTHORS
Photonics, optoelectronics and optical communicationsGene expression (incl. microarray and other genome-wide approaches)Gene mappingNeurology and neuromuscular diseasesHaematological tumours
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Publications (14)

|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

|Jun 23, 2025
A Novel Pathogenic Variant in CRB1 as the Cause of Non-Syndromic Retinitis Pigmentosa in a Geographical Isolate in Northern Italy.

Andrea Guala, Fabio Sirchia, Claudia Scotti

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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