Michael P. Mackley

Phenotypic Overlap Between Familial Exudative Vitreoretinopathy and Microcephaly, Lymphedema, and Chorioretinal Dysplasia Caused by<i>KIF11</i>Mutations

Johane M. Robitaille, Roxanne M. Gillett, Marissa A. LeBlanc et al. · JAMA Ophthalmology · 2014 · 138 citations

Medicine, Genetics, Ophthalmology +16

“Not pathogenic until proven otherwise”: perspectives of UK clinical genomics professionals toward secondary findings in context of a Genomic Medicine Multidisciplinary Team and the 100,000 Genomes Project

Elizabeth Ormondroyd, Michael P. Mackley, Edward Blair et al. · Genetics in Medicine · 2017 · 72 citations · Full text

Life Sciences, Clinical Sciences, Genetics +15

Systematic review of diffuse hemispheric glioma, H3 G34-mutant: Outcomes and associated clinical factors

Cameron Crowell, Daddy Mata‐Mbemba, Julie Bennett et al. · Neuro-Oncology Advances · 2022 · 44 citations · Full text

Medicine, Neurology, Oncology +10

Views of rare disease participants in a UK whole-genome sequencing study towards secondary findings: a qualitative study

Michael P. Mackley, Edward Blair, Michael Parker et al. · European Journal of Human Genetics · 2018 · 34 citations · Full text

Life Sciences, Genetics, Health Policy +17

Insights from early experience of a Rare Disease Genomic Medicine Multidisciplinary Team: a qualitative study

Elizabeth Ormondroyd, Michael P. Mackley, Edward Blair et al. · European Journal of Human Genetics · 2017 · 32 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17