Juliette Pulman

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome

Nicole J. Lake, Bryn D. Webb, David A. Stroud et al. · The American Journal of Human Genetics · 2017 · 126 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Mutations in the <i>MRPS28</i> gene encoding the small mitoribosomal subunit protein bS1m in a patient with intrauterine growth retardation, craniofacial dysmorphism and multisystemic involvement

Juliette Pulman, Benedetta Ruzzenente, L Bianchi et al. · Human Molecular Genetics · 2018 · 26 citations

Life Sciences, Molecular Biology, Molecular Genetics +15

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

Juliette Pulman, Benedetta Ruzzenente, Martin Hořák et al. · Molecular Genetics and Metabolism · 2021 · 13 citations

Life Sciences, Genetics, Molecular Genetics +14

Direct delivery of Cas9 or base editor protein and guide RNA complex enables genome editing in the retina

Juliette Pulman, Catherine Botto, Hugo Malki et al. · Molecular Therapy — Nucleic Acids · 2024 · 11 citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +17