A. M. Innes

PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes

F. Bernier, A. Innes, J. Vance, 2018, Life Science Alliance.

A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency.

A. Ekici, R. Abou Jamra, F. Bernier, 2014, American journal of human genetics.

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Michael J Parker, Katrina Tatton-Brown, Christian Gilissen, 2015, American journal of human genetics.

Skeletal Phenotypes Due to Abnormalities in Mitochondrial Protein Homeostasis and Import

Aneal Khan, A. Innes, S. Greenway, 2020, International journal of molecular sciences.

Expansion of the GLE1‐associated arthrogryposis multiplex congenita clinical spectrum

C. Bönnemann, K. Boycott, F. Bernier, 2017, Clinical genetics.

The R941L mutation in MYH14 disrupts mitochondrial fission and associates with peripheral neuropathy

O. Suchowersky, A. Innes, J. Parboosingh, 2019, EBioMedicine.