Glenda Mullan

Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease

Tony Roscioli, Simon T. Cliffe, Donald B. Bloch et al. · Nature Genetics · 2006 · 99 citations

Medicine, Immunology, Molecular Genetics +10

Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy

Peter J. Taylor, Sarah Maroulis, Glenda Mullan et al. · Journal of Medical Genetics · 2007 · 50 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Changing interpretation of chromosomal microarray over time in a community cohort with intellectual disability

H. J. L. Speirs, Peter J. Taylor, Glenda Mullan et al. · American Journal of Medical Genetics Part A · 2013 · 48 citations

Life Sciences, Genetics, Molecular Genetics +17

A comparison of molecular and cytogenetic techniques for the diagnosis of pregnancy loss

Melody Caramins, Toni Saville, Rebecca Shakeshaft et al. · Genetics in Medicine · 2010 · 23 citations

Life Sciences, Genetics, Molecular Biology +14

Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants

Lucy Loong, Cankut Çubuk, Subin Choi et al. · Genetics in Medicine · 2021 · 16 citations · Full text

Life Sciences, Bioinformatics, Molecular Genetics +14