A Rare Hemoglobin Variant (β51Pro → His) Causing Misleading Measurements of Hemoglobin A(1c)

por Mackley, Michael P, Morgenthau, Ari, Elnenaei, Manal, MacKenzie, Heather
Publicado 2022

Rare Disease Education Outside of the Classroom and Clinic: Evaluation of the RARE Compassion Program for Undergraduate Medical Students

por Morgenthau, Ari, Margus, Colton, Mackley, Michael P., Miller, Ashley P.
Publicado 2022

Stakeholder views on secondary findings in whole-genome and whole-exome sequencing: a systematic review of quantitative and qualitative studies

por Mackley, Michael P., Fletcher, Benjamin, Parker, Michael, Watkins, Hugh, Ormondroyd, Elizabeth
Publicado 2017

HGG-05. Systematic review of diffuse hemispheric glioma, H3 G34-mutant and clinical factors influencing outcomes

por Crowell, Cameron, Mata-Mbemba, Daddy, Bennett, Julie, Matheson, Kara, Mackley, Michael, Erker, Craig
Publicado 2022

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

por Mackley, Michael P, Blair, Edward, Parker, Michael, Taylor, Jenny C, Watkins, Hugh, Ormondroyd, Elizabeth
Publicado 2018

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

por Crowell, Cameron, Mata-Mbemba, Daddy, Bennett, Julie, Matheson, Kara, Mackley, Michael, Perreault, Sébastien, Erker, Craig
Publicado 2022

“Not pathogenic until proven otherwise”: perspectives of UK clinical genomics professionals toward secondary findings in context of a Genomic Medicine Multidisciplinary Team and th...

por Ormondroyd, Elizabeth, Mackley, Michael P, Blair, Edward, Craft, Judith, Knight, Julian C, Taylor, Jenny C, Taylor, John, Watkins, Hugh
Publicado 2017

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

por Ormondroyd, Elizabeth, Mackley, Michael P, Blair, Edward, Craft, Jude, Knight, Julian C, Taylor, John, Taylor, Jenny C, Wilkie, Andrew OM, Watkins, Hugh
Publicado 2017

Secondary findings in inherited heart conditions: a genotype-first feasibility study to assess phenotype, behavioural and psychosocial outcomes

por Ormondroyd, Elizabeth, Harper, Andrew R., Thomson, Kate L., Mackley, Michael P., Martin, Jennifer, Penkett, Christopher J., Salatino, Silvia, Stark, Hannah, Stephens, Jonathan, Watkins, Hugh
Publicado 2020