Alana Ward

Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia

F. Clot, David Grabli, C. Cazeneuve et al. · Brain · 2009 · 144 citations

Exhaustive Analysis, Mendelian Disorder, Genetic Disorder +14

Mutation screening and genotype:phenotype correlation in familial hypercholesterolaemia

Colin A. Graham, E. McClean, Alana Ward et al. · Atherosclerosis · 1999 · 60 citations

Human Polymorphism, Genetics, Genetic Epidemiology +1

A novel single base deletion in the LDLR gene (211delG): Effect on serum lipid profiles and the influence of other genetic polymorphisms in the ACE, APOE and APOB genes

Alana Ward, Maurice O’Kane, DP Nicholls et al. · Atherosclerosis · 1996 · 36 citations

Genetics, Genetic Epidemiology, Human Polymorphism +8

Identification of a single base pair deletion (40 del G) in exon 1 of the ferrochelatase gene in patients with erythropoietic protoporphyria

David Todd, Anne E. Hughes, Kevin T. Ennls et al. · Human Molecular Genetics · 1993 · 32 citations

Genetics, Molecular Genetics, Disease Gene Identification +20

Designing rare disease care pathways in the Republic of Ireland: a co-operative model

Alana Ward, Daniel N. Murphy, Rita Marron et al. · Orphanet Journal of Rare Diseases · 2022 · 20 citations · Full text