Concepedia

Gillian Carpenter

GC

Statistics

Publications

14

Citations

802

H-Index

13

Active since

1996

Affiliations

University of Sussex(Current)

University of Cambridge

Wellcome/MRC Institute of Metabolic Science

Greenwood Genetic Center

Wellcome Sanger Institute

Gillian Carpenter is an author at University of Sussex specializing in life sciences, genetics, and genetic disorders.

Publications per year

1996–2016

14

Publications

14

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 · 115 citations · Full text

, , +16

Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance

Felicity Payne, Rita Colnaghi, Nuno Rocha et al. · Journal of Clinical Investigation · 2014 · 113 citations · Full text

, , +17

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

, , +17

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

Ghayda Mirzaa, Benjamin Vitre, Gillian Carpenter et al. · Human Genetics · 2014 · 94 citations · Full text

, , +14

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 · 79 citations · Full text

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