Shirley McQuaid

Differences in presentation and progression between severe FIC1 and BSEP deficiencies

Ludmila Pawlikowska, Sandra Strautnieks, Irena Jankowska et al. · Journal of Hepatology · 2010 · 197 citations · Full text

Clinical Disorders, Bsep Deficiencies, Disease Progression +5

“True” sporadic ALS associated with a novel SOD‐1 mutation

Michael Alexander, Bryan J. Traynor, Nicole Miller et al. · Annals of Neurology · 2002 · 104 citations

EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders

Valérie Biancalana, Dieter Glaeser, Shirley McQuaid et al. · European Journal of Human Genetics · 2014 · 84 citations · Full text

Typical Friedreich's ataxia without GAA expansions and GAA expansions without typical Friedreich's ataxia

Dominick J. H. McCabe, F Ryan, David P. Moore et al. · Journal of Neurology · 2000 · 43 citations · Full text

Typical Friedreich, Applied Physics, Gaa Expansions +1

Fine-resolution mapping by haplotype evaluation: the examples of PFIC1 and BRIC

Laura N. Bull, Jenneke A. Juijn, Mira Liao et al. · Human Genetics · 1999 · 36 citations

Haplotype Determination, Allelic Variant, Genotype-phenotype Association +9