Concepedia
Statistics
Publications
9
Citations
528
H-Index
Active since
2012
Affiliations
University of Manchester(Current)
St Mary's Hospital
Manchester University NHS Foundation Trust
Henry Royce Institute
Manchester Academic Health Science Centre
Sara Cuvertino is an author at University of Manchester specializing in genetics, life sciences, and molecular genetics.
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 · 141 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia
Frédéric M. Vaz, John McDermott, Mariëlle Alders et al. · Brain · 2019 · 114 citations · Full text
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 · 70 citations · Full text
Life Sciences, Genetics, Molecular Genetics +16
Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine
Víctor Faùndes, Martin D. Jennings, Siobhan Crilly et al. · Nature Communications · 2021 · 65 citations · Full text
Life Sciences, Genetics, Molecular Biology +14
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 · 61 citations · Full text
Life Sciences, Cell Biology, Developmental Biology +17
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