Concepedia
Statistics
Publications
15
Citations
1K
H-Index
14
Active since
2003
Affiliations
University of Cambridge(Current)
Wellcome/MRC Institute of Metabolic Science
University College London
Wellcome Trust
University of Edinburgh
Rachel Knox is an author at University of Cambridge specializing in life sciences, genetics, and molecular genetics.
Publications per year
2003–2024
Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy
Lara Al-Olabi, Satyamaanasa Polubothu, Katherine Dowsett et al. · Journal of Clinical Investigation · 2018 · 286 citations · Full text
Medicine, Genetics, Molecular Genetics +17
Somatic activating mutations in <i>Pik3ca</i> cause sporadic venous malformations in mice and humans
Sandra D. Castillo, Elena Tzouanacou, May Zaw Thin et al. · Science Translational Medicine · 2016 · 192 citations · Full text
Life Sciences, Genetics, Molecular Genetics +12
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency
Clare V. Logan, Jennie Murray, David Parry et al. · The American Journal of Human Genetics · 2018 · 106 citations · Full text
Life Sciences, Genetics, Molecular Genetics +16
Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression
Nuno Rocha, David A. Bulger, Andrea Frontini et al. · eLife · 2017 · 94 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
Oncogenic <i>PIK3CA</i> promotes cellular stemness in an allele dose-dependent manner
Ralitsa R. Madsen, Rachel Knox, Wayne Pearce et al. · Proceedings of the National Academy of Sciences · 2019 · 65 citations · Full text
Medicine, Genetics, Oncology +17
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