Concepedia

Fiona MacDonald

FM

86

Publications

6.3K

Citations

44

H-Index

1955

Active since

Affiliations

Birmingham Women's Hospital(Current)

University of Birmingham

Queen Elizabeth Hospital Birmingham

University of Glasgow

University Hospitals Birmingham NHS Foundation Trust

Fiona MacDonald is an author at Birmingham Women's Hospital specializing in medicine, pathology, and genetics.

ORCID

Top concepts

Publications per year

1955–2022

86

Publications

86

Tumor risks and genotypeâphenotypeâproteotype analysis in 358 patients with germline mutations in<i>SDHB</i>and<i>SDHD</i>

Christopher J. Ricketts, Julia Forman, Eleanor Rattenberry et al. · Human Mutation · 2009 · 336 citations

Molecular subtypes and phenotypic expression of Beckwith–Wiedemann syndrome

Wendy N. Cooper, Anita Luharia, Gail A Evans et al. · European Journal of Human Genetics · 2005 · 302 citations

, , +5

Pleiotropic Effects of CEP290 (NPHP6) Mutations Extend to Meckel Syndrome

Lekbir Baala, Sophie Audollent, Jelena Martinović et al. · The American Journal of Human Genetics · 2007 · 280 citations · Full text

, , +7

Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies

Derek H.K. Lim, Sarah Bowdin, Louise Tee et al. · Human Reproduction · 2008 · 274 citations

Genotype-phenotype correlations in von Hippel-Lindau disease

Kai Ren Ong, Emma R. Woodward, Pip Killick et al. · Human Mutation · 2006 · 254 citations · Full text

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