Giacomo Maria Bacci

13PUBLICATIONS
108CO-AUTHORS
NeurogeneticsInfant and child healthGene mappingCellular nervous systemEpigenetics (incl. genome methylation and epigenomics)
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Publications (13)

|Mar 05, 2025
Genotype-phenotype relationship in <i>RDH12</i> retinopathy: a perspective from a pediatric age group.

Giacomo Maria Bacci, Pina Fortunato, Silvia Cestaro

|Jan 07, 2025
Phosphoribosyl pyrophosphate synthetase 1 (<i>PRPS1</i>) associated retinal degeneration: an international study.

Ogul E Uner, Radwa Elsharawi, Margaret Reynolds

|Jul 31, 2024
Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations.

Hélène Dollfus, Marc R Lilien, Pietro Maffei

|Apr 25, 2024
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.

Daniel O Dodd, Sabrina Mechaussier, Patricia L Yeyati

|Apr 09, 2024
Broadening the ocular phenotypic spectrum of ultra-rare <i>BRPF1</i> variants: report of two cases.

Elisa Marziali, Samuela Landini, Erika Fiorentini

|Oct 28, 2023
The New Era of Therapeutic Strategies for the Treatment of Retinitis Pigmentosa: A Narrative Review of Pathomolecular Mechanisms for the Development of Cell-Based Therapies.

Valentina Becherucci, Giacomo Maria Bacci, Elisa Marziali

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Frequent Collaborators

6 joint publications

Elisa Marziali

4 joint publications

Roberto Caputo

3 joint publications

Lucia Tiberi

3 joint publications

Sara Bargiacchi