Mcgrath
St Thomas' Hospital
6 Papers
28 Citations
Mcgrath is an academic researcher from St Thomas' Hospital. The author has contributed to research in topics: Medicine & Gene. The author has an hindex of 3, co-authored 3 publications.
Chat about Author
Papers
Sequence variations in the flavin-containing mono-oxygenase 3 gene (FMO3) in fish odour syndrome
TL;DR: The mutation Pro153→Leu153 appears to be a recurrent cause of this distressing metabolic disorder, and two further missense mutations were identified on the other FMO3 allele.
29
A recurrent COL7A1 mutation, R2814X, in British patients with recessive dystrophic epidermolysis bullosa.
TL;DR: This work searched for recurrent mutations in genomic DNA from 38 British patients with recessive DEB using polymerase chain reaction (PCR), heteroduplex analysis and direct nucleotide sequencing and identified a recurrent premature termination codon, R2814X, on three out of 76 alleles.
15
BG05: More than skin deep: a life‐changing diagnosis from the 100,000 Genomes Project
Ebun Oluwole,Jemima E. Mellerio,John,Mcgrath,Daniel Greenblatt,Eduardo Calonje,Anoud Z. Zidan,Eglantine Lebas,S. Leech,Clarisse Ganier,N. Harun,Xinyi Du-Harpur,Fiona M. Watt,Magnus D. Lynch,Lucy Cliffe,Elizabeth M. McDermott,Mohnish Suri,Jane Ravenscroft +17 more
TL;DR: Four additional cases of epidermolysis bullosa-associated cutaneous VXs are presented and different therapeutic modalities and response to treatment are described, including cryotherapy and topical steroids, which appear to be safe and well tolerated.
BG04: Exploring the cellular and genetic composition of human basal cell carcinoma at single‐cell and spatial resolutions
Ebun Oluwole,Jemima E. Mellerio,John,Mcgrath,Daniel Greenblatt,Eduardo Calonje,Anoud Z. Zidan,Eglantine Lebas,S. Leech,Clarisse Ganier,N. Harun,Xinyi Du-Harpur,Fiona M. Watt +12 more
TL;DR: Four additional cases of epidermolysis bullosa-associated cutaneous VXs are presented and different therapeutic modalities and response to treatment are described, including cryotherapy and topical steroids, which appear to be safe and well tolerated.
BG03: Epidermolysis bullosa‐associated verruciform xanthomas: case series and review of the literature
Ebun Oluwole,Jemima E. Mellerio,John,Mcgrath,Daniel Greenblatt,Eduardo Calonje,Anoud Z. Zidan,Eglantine Lebas,S. Leech,Clarisse Ganier,N. Harun,Xinyi Du-Harpur,Fiona M. Watt +12 more
TL;DR: Four additional cases of epidermolysis bullosa-associated cutaneous VXs are presented and different therapeutic modalities and response to treatment are described, including cryotherapy and topical steroids, which appear to be safe and well tolerated.