Evolutionary dynamics of <i>Staphylococcus aureus</i> during progression from carriage to disease

Bernadette Young, Tanya Golubchik, Elizabeth M. Batty, +18

Proceedings of the National Academy of Sciences

Microbial PathogensMolecular EpidemiologyGeneticsBacterial PathogensMicrobial Evolution +20

Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3

M. Andrew Nesbit, Fadil Hannan, Sarah Howles, +13

Nature Genetics

Molecular PhysiologyMendelian DisorderGenetic DisorderGeneticsMolecular Genetics +2

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

Elise Ruark, Katie Snape, Peter Humburg, +58

Nature

Breast OncologyCancer PathologyTumor HeterogeneityGeneticsMosaic Ppm1d Mutations +6

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

Paul Newey, M. Andrew Nesbit, Andrew J. Rimmer, +11

The Journal of Clinical Endocrinology & Metabolism

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

Stefano Lise, Yvonne L. Clarkson, Emma Perkins, +29

PLoS Genetics

NeurogenomicsDevelopmental Cognitive NeuroscienceBrain DevelopmentGeneticsMotor Development +21

Whole-Exome Sequencing Studies of Nonfunctioning Pituitary Adenomas

Paul Newey, M. Andrew Nesbit, Andrew J. Rimmer, +11

The Journal of Clinical Endocrinology & Metabolism

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

H Bergmann, Mehmet Yabas, Alanna Short, +18

The Journal of Experimental Medicine

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

Benjamin Davies, Laurence A. Brown, Ondřej Cais, +23

Human Molecular Genetics

Sleep DisordersGeneticsGene CharacterizationMolecular GeneticsDisease Gene Identification +16

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

Katherine R. Bull, Andrew J. Rimmer, Owen M. Siggs, +14

PLoS Genetics

GeneticsForward Genetics ScreensDisease Gene IdentificationGenomicsHigh Throughput Sequencing +21