Author

Andrew J. Rimmer

Observed names: Andrew J Rimmer, Andrew Rimmer, Rimmer, Andrew

Institution: Institute of Cancer Research

Observed institutions: Centre for Human Genetics, Institute of Cancer Research, University of Oxford

OpenAlex ID: A5107828178

Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3

2012 · M Andrew Nesbit, Fadil M Hannan, et al. · Nature Genetics · 280

Evolutionary dynamics of Staphylococcus aureus during progression from carriage to disease

2012 · Bernadette C. Young, Tanya Golubchik, et al. · Proceedings of the National Academy of Sciences · 274

Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer

2012 · Elise Ruark, Katie Snape, et al. · Nature · 250

Whole-Exome Sequencing Studies of Nonhereditary (Sporadic) Parathyroid Adenomas

2012 · Paul J. Newey, M. Andrew Nesbit, et al. · The Journal of Clinical Endocrinology & Metabolism · 148

Recessive Mutations in SPTBN2 Implicate β-III Spectrin in Both Cognitive and Motor Development

2012 · Stefano Lise, Yvonne Clarkson, et al. · PLoS Genetics · 115

Whole-Exome Sequencing Studies of Nonfunctioning Pituitary Adenomas

2013 · Paul J. Newey, M. Andrew Nesbit, et al. · The Journal of Clinical Endocrinology & Metabolism · 92

B cell survival, surface BCR and BAFFR expression, CD74 metabolism, and CD8− dendritic cells require the intramembrane endopeptidase SPPL2A

2012 · Hannes Bergmann, Mehmet Yabas, et al. · The Journal of Experimental Medicine · 91

A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability

2017 · Benjamin Davies, Laurence A Brown, et al. · Human Molecular Genetics · 50

Unlocking the Bottleneck in Forward Genetics Using Whole-Genome Sequencing and Identity by Descent to Isolate Causative Mutations

2013 · Katherine R. Bull, Andrew J. Rimmer, et al. · PLoS Genetics · 48

CoverView: a sequence quality evaluation tool for next generation sequencing data

2018 · Márton Münz, Shazia Mahamdallie, et al. · Wellcome Open Research · 6

Next‐generation sequencing to dissect hereditary nephrotic syndrome in mice identifies a hypomorphic mutation in Lamb2 and models Pierson's syndrome

2013 · Katherine R Bull, Thomas Mason, et al. · The Journal of Pathology · 6

Whole-exome sequencing studies of non-functioning pituitary adenomas

2013 · Paul Newey, M Andrew Nesbit, et al. · Endocrine Abstracts · 2

Familial hypocalciuric hypercalcaemia type 3 is caused by mutations in adaptor protein 2 sigma 1

2013 · M Andrew Nesbit, Fadil M Hannan, et al. · Endocrine Abstracts

Genomic analysis of sporadic neurological disease using family trios: learning to expect the unexpected

2012 · Alistair T. Pagnamenta, Howard Martin, et al. · Journal of Medical Genetics

Mutations in the Intramembrane Endopeptidase Sppl2a Affect Humoral Immunity and B-cell Survival by Reducing Surface Bcr and Baff-r Expression and Affecting Cd74 Metabolism

2012 · H Bergmann, Mehmet Yabas, et al. · Journal of Clinical Immunology

Works count: 16

Citation count: 1,364

H-index: 9

I10-index: 9