Concepedia
Statistics
Publications
9
Citations
504
H-Index
Active since
2012
Affiliations
University of Manchester(Current)
St Mary's Hospital
Henry Royce Institute
Manchester Academic Health Science Centre
Manchester University NHS Foundation Trust
Sara Cuvertino is an author at University of Manchester specializing in genetics, medicine, and molecular neuroscience.
Top concepts
GeneticsMedicineCell BiologyNeurogeneticsDevelopmental BiologyMolecular NeuroscienceAutismBiologyChromatinNeurology
Publications per year
2012–2022
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder
Sara Cuvertino, Helen M. Stuart, Kate Chandler et al. · The American Journal of Human Genetics · 2017 · 135 citations · Full text
Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia
Frédéric M. Vaz, John McDermott, Mariëlle Alders et al. · Brain · 2019 · 108 citations · Full text
Biology, Neurodegenerative Diseases, Etherlipid Homeostasis +15
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct fromKabuki syndrome
Sara Cuvertino, Verity Hartill, Alice Colyer et al. · Genetics in Medicine · 2020 · 64 citations · Full text
Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine
Víctor Faúndes, Martin D. Jennings, Siobhan Crilly et al. · Nature Communications · 2021 · 63 citations · Full text
In Vivo Repopulating Activity Emerges at the Onset of Hematopoietic Specification during Embryonic Stem Cell Differentiation
Stella Pearson, Sara Cuvertino, Maud Fleury et al. · Stem Cell Reports · 2015 · 60 citations · Full text
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