Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement

• Dr. Andrea Gangfuß with Dr. Hanns Lochmüller (lead investigator) as a co-author.

Immune Checkpoint Inhibitor-Associated Myocarditis With Persistent Troponin Elevation Despite Abatacept and Prolonged Immunosuppression

• Dr. Shiying Liu, with Dr. Aaron Izenberg (collaborator) as a co-author.

Epilepsy in children with cerebral palsy: a data linkage study

• Dr. Aliya Szpindel, with Dr. Maryam Oskoui (investigator) as a co-author.

Progressive Neurochemical Abnormalities in Cognitive and Motor Subgroups of Amyotrophic Lateral Sclerosis: A Prospective Multicenter Study

• Dr. Daniel Ta with Dr. Lawrence Korngut (investigator) as a co-author.

Whole genome sequencing identifies pathogenic RNU4ATAC variants in a child with recurrent encephalitis, microcephaly, and normal stature

• Dr. Hugh McMillan (investigator).

Genetic testing for amyotrophic lateral sclerosis in Canada - an assessment of current practices

• Dr. Kristiana Salmon, with Dr. Aaron Izenberg (collaborator) as a co-author.

Lysosomes and the pathogenesis of merosin-deficient congenital muscular dystrophy

• Dr. Sarah Smith, with Dr. James Dowling (steering committee) as a co-author.

Characterization of sleep-disordered breathing in children with Duchenne muscular dystrophy by the American Academy of Sleep Medicine criteria versus disease specific criteria: what are the differences?

• Dr. Manju Hurvitz with Dr. Reshma Amin (investigator) as a co-author.