Care4Rare Canada Consortium

A novel mutation in LAMC3 associated with generalized polymicrogyria of the cortex and epilepsy

K. Boycott, T. Hartley, J. Parboosingh, 2017, neurogenetics.

A family segregating lethal neonatal coenzyme Q10 deficiency caused by mutations in COQ9

R. Rodenburg, K. Boycott, D. Bulman, 2018, Journal of inherited metabolic disease.

Whole‐transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy

Kevin S. Smith, S. Montgomery, Z. Zappala, 2017, Human mutation.

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

E. Zackai, J. Allanson, F. Quintero-Rivera, 2016, Human mutation.

Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype

E. Shoubridge, B. Brais, Woranontee Weraarpachai, 2017, neurogenetics.

Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome

John J. Mitchell, E. Shoubridge, H. Antonicka, 2015, Human Genetics.

Mutations in GALC cause late-onset Krabbe disease with predominant cerebellar ataxia

B. Brais, K. Boycott, M. Tétreault, 2016, neurogenetics.

Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

H. Mefford, W. Chung, R. Møller, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.