Juliette Pulman
Paris, France
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 11 publications
Gene editing by direct delivery of Cas9 protein in the retina
Journal: Medecine sciences : M/S
Published: July 07, 2025
Retinal organoids mirror CRISPR-Cas9 gene editing efficiency observed in vivo.
Journal: Molecular therapy. Methods & clinical development
Published: December 26, 2024
Direct delivery of Cas9 or base editor protein and guide RNA complex enables genome editing in the retina.
Journal: Molecular therapy. Nucleic acids
Published: July 22, 2024
New Editing Tools for Gene Therapy in Inherited Retinal Dystrophies.
Journal: The CRISPR journal
Published: May 04, 2022
Biallelic mutations in the SARS2 gene presenting as congenital sideroblastic anemia.
Journal: Haematologica
Published: May 11, 2021
Variants in the MIPEP gene presenting with complex neurological phenotype without cardiomyopathy, impair OXPHOS protein maturation and lead to a reduced OXPHOS abundance in patient cells.
Journal: Molecular genetics and metabolism
Published: April 20, 2021
Early and late stage gene therapy interventions for inherited retinal degenerations.
Journal: Progress in retinal and eye research
Published: February 18, 2021
Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein bS1m in a patient with intrauterine growth retardation, craniofacial dysmorphism and multisystemic involvement.
Journal: Human molecular genetics
Published: November 13, 2018
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.
Journal: American journal of human genetics
Published: April 07, 2018
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.
Journal: American journal of human genetics
Published: May 16, 2017
Showing 1-11 of 11
Last Updated: 09/26/2026