Author

Diana M. Walsh

Observed names: D. M. Walsh, D. Walsh, Diana Walsh

Institutions: Birmingham Women's Hospital, Birmingham Women’s and Children’s NHS Foundation Trust

Observed institutions: Birmingham Women's Hospital, Birmingham Women’s and Children’s NHS Foundation Trust, University of Birmingham

OpenAlex ID: A5083127488

Germline FH Mutations Presenting With Pheochromocytoma

2014 · Graeme R. Clark, Marco Sciacovelli, et al. · The Journal of Clinical Endocrinology & Metabolism · 187

Profiling of Somatic Mutations in Phaeochromocytoma and Paraganglioma by Targeted Next Generation Sequencing Analysis

2015 · Andrea Luchetti, Diana Walsh, et al. · International Journal of Endocrinology · 94

Acrocallosal syndrome: Identification of a novel KIF7 mutation and evidence for oligogenic inheritance

2012 · Diana M. Walsh, Stavit A. Shalev, et al. · European Journal of Medical Genetics · 34

Evidence that autosomal recessive spastic cerebral palsy-1 (CPSQ1) is caused by a missense variant in HPDL

2021 · Neil V Morgan, Bryndis Yngvadottir, et al. · Brain Communications · 19

Localized autosomal recessive epidermolysis bullosa simplex arising from a novel homozygous frameshift mutation in DST ( BPAG1 )

2021 · D. Wen, D. L. Balacco, et al. · Clinical and Experimental Dermatology · 5

A NovelABCA12Mutation in Two Families with Congenital Ichthyosis

2012 · D. M. Walsh, S. H. Shah, et al. · Scientifica · 5

Exome sequencing and human disease : the molecular characterisation of genetic disorders

2016 · Diana Walsh · University of Birmingham Institutional Research Archive (University of Birmingham)

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 · Diana Walsh · University of Birmingham Institutional Research Archive (University of Birmingham)

Works count: 8

Citation count: 344

H-index: 5

I10-index: 4