Diana Walsh
Birmingham Women’s and Children’s NHS Foundation Trust(GB)
Publications by Year
Research Areas
Cancer, Hypoxia, and Metabolism, Pituitary Gland Disorders and Treatments, Adrenal and Paraganglionic Tumors, Skin and Cellular Biology Research, Protein Kinase Regulation and GTPase Signaling
Most-Cited Works
- → Germline FH Mutations Presenting With Pheochromocytoma(2014)175 cited
- → Profiling of Somatic Mutations in Phaeochromocytoma and Paraganglioma by Targeted Next Generation Sequencing Analysis(2015)90 cited
- → Acrocallosal syndrome: Identification of a novel KIF7 mutation and evidence for oligogenic inheritance(2012)34 cited
- → Evidence that autosomal recessive spastic cerebral palsy-1 (CPSQ1) is caused by a missense variant in HPDL(2021)17 cited
- → Localized autosomal recessive epidermolysis bullosa simplex arising from a novel homozygous frameshift mutation in DST ( BPAG1 )(2021)5 cited
- → A NovelABCA12Mutation in Two Families with Congenital Ichthyosis(2012)5 cited
- Project 1: The role of acetylation in the non-homologous end joining pathway & Project 2: The identification of human disease genes through the use of exome sequencing(2011)
- Exome sequencing and human disease : the molecular characterisation of genetic disorders(2016)