Gillian Carpenter

Identification of the First ATRIP–Deficient Patient and Novel Mutations in ATR Define a Clinical Spectrum for ATR–ATRIP Seckel Syndrome

Tomoo Ogi, Sarah Walker, Tom Stiff et al. · PLoS Genetics · 2012 · 112 citations · Full text

Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance

Felicity Payne, Rita Colnaghi, Nuno Rocha et al. · Journal of Clinical Investigation · 2014 · 110 citations · Full text

Metabolic Disorder, Genetics, Metabolic Remodeling +23

Disruption of the Interaction of Mammalian Protein Synthesis Eukaryotic Initiation Factor 4B with the Poly(A)-binding Protein by Caspase- and Viral Protease-mediated Cleavages

Martin Bushell, Wendy Wood, Gillian Carpenter et al. · Journal of Biological Chemistry · 2001 · 101 citations · Full text

Protein Function, Signal Transduction, Signaling Pathway +15

Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism

Ghayda Mirzaa, Benjamin Vitre, Gillian Carpenter et al. · Human Genetics · 2014 · 92 citations · Full text

Developmental Biology, Cell Division, Genetic Disorder +6

Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome

Akio Tanaka, Sarah Weinel, Nikoletta Nagy et al. · The American Journal of Human Genetics · 2012 · 78 citations · Full text

Somatic Variant, Medicine, Genetics +7