A. Rimmer

发表

Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications

G. McVean, Z. Iqbal, I. Mathieson, 2014, Nature Genetics.

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

Davis J. McCarthy, Calliope A. Dendrou, Lisa J. Murray, 2015, Nature Genetics.

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

Peter Donnelly, Gilean McVean, Jean-Baptiste Cazier, 2012, PLoS genetics.

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

Peter Donnelly, Gil McVean, Jean-Baptiste Cazier, 2014, Human molecular genetics.

Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3

G. McVean, D. Buck, Lorna Gregory, 2012, Nature Genetics.

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

Panagiotis, P. Donnelly, M. McCarthy, 2018 .

Whole-exome sequencing studies of nonfunctioning pituitary adenomas.

G. McVean, D. Buck, Lorna Gregory, 2013, The Journal of clinical endocrinology and metabolism.

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

S. Seal, N. Rahman, S. Mahamdallie, 2018, Wellcome open research.

An integrated map of genetic variation from 1,092 human genomes

Kenny Q. Ye, Mauricio O. Carneiro, Francisco M. De La Vega, 2012, Nature.

Whole-genome sequencing of bladder cancers reveals somatic CDKN1A mutations and clinicopathological associations with mutation burden

Peter Donnelly, Gil McVean, Paolo Piazza, 2014, Nature Communications.

Whole-exome sequencing studies of nonhereditary (sporadic) parathyroid adenomas.

G. McVean, D. Buck, Lorna Gregory, 2012, The Journal of clinical endocrinology and metabolism.

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

A. Rimmer, C. Goodnow, T. Hough, 2013, The Journal of pathology.

Erythrocytosis associated with a novel missense mutation in the BPGM gene

Davis J. McCarthy, Lisa J. Murray, P. Donnelly, 2010, Haematologica.

Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies

A. Pagnamenta, D. Keays, I. Mathieson, 2011, Journal of Human Genetics.

Evolutionary dynamics of Staphylococcus aureus during progression from carriage to disease

Peter Donnelly, Zamin Iqbal, Richard G. Everitt, 2012, Proceedings of the National Academy of Sciences.

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

T. Andrews, M. Field, A. Rimmer, 2013, The Journal of experimental medicine.

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

Peter Donnelly, Mark I. McCarthy, Nazneen Rahman, 2012, Nature.

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

Steve D. M. Brown, Ann-Marie Mallon, Gerton Lunter, 2013, PLoS genetics.

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

P. Donnelly, G. McVean, A. Bhomra, 2017, Human molecular genetics.

NOX1 loss-of-function genetic variants in patients with inflammatory bowel disease

Jimmy D Bell, J. Danesh, G. McVean, 2017, Mucosal Immunology.

Evolutionary dynamics of Staphylococcus aureus during progression from carriage to disease Major category: BIOLOGICAL SCIENCES Minor category: Evolution

Z. Iqbal, R. Everitt, X. Didelot, 2011 .

Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies

A. Pagnamenta, D. Keays, I. Mathieson, 2011, Journal of Human Genetics.