Francois P. Bernier

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

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

MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement

Beryl B. Cummings, Carol J. Saunders, C. Saunders, 2019, Acta Neuropathologica.

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.

Bowen–Conradi syndrome: A clinical and genetic study

F. Bernier, A. Innes, C. Greenberg, 2003, American journal of medical genetics. Part A.

Prevalence rates study of selected isolated non‐Mendelian congenital anomalies in the Hutterite population of Alberta, 1980–2016

F. Bernier, S. Crawford, R. Lowry, 2020, American journal of medical genetics. Part A.

Validation of congenital anomaly coding in Canada's administrative databases compared with a congenital anomaly registry.

S. Tough, R. Lowry, B. Sibbald, 2014, Birth defects research. Part A, Clinical and molecular teratology.

Expansion of the GLE1‐associated arthrogryposis multiplex congenita clinical spectrum

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

Whole‐exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families

M. Tarnopolsky, K. Boycott, D. Bulman, 2018, Clinical genetics.