John A. McGrath

TL;DR: The Genomics England 100 000 Genomes Project, charged with completing genome sequencing on 100 000 people before the end of 2017, has four main aims: to create an ethical and transparent programme based on consent, to bring benefit to patients and set up a genomic medicine service for the NHS, to enable new scientific discovery and medical insights, and to kick start the development of a U.K. genomics industry.

TL;DR: Electron microscopy showed tonofilament aggregation and an intra-epidermal level of blister formation confirming a diagnosis of DM-EBS rather than an acquired immunobullous disorder, and mutations of basal cell keratin genes are thought to be of aetiopathological significance in this form of epidermolysis bullosa.

TL;DR: Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy and Pulmonary Fibrosis (POIKTMP) is a recently described autosomal dominant disorder due to missense mutations in the FAM111B gene.

TL;DR: Citing this paper Please note that where the full-text provided on King's Research Portal is the Author Accepted Manuscript or Post-Print version this may differ from the final Published version.

TL;DR: A male adult with IP, with survival being attributed to tissue mosaicism, who then fathered a female child with IP affecting her germline is described, which underlies ~80% of IP cases worldwide.