Shailly Jain Ghai

Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network

John J. Mitchell, J. Little, K. Wilson, 2020, Orphanet Journal of Rare Diseases.

Cockayne syndrome caused by paternally inherited 5 Mb deletion of 10q11.2 and a frameshift mutation of ERCC6.

M. Shago, M. Shroff, G. Yoon, 2011, European journal of medical genetics.

Diagnostic yield of clinical exome sequencing in adulthood in medical genetics clinics

O. Caluseriu, A. Chan, S. Mercimek-Andrews, 2022, American journal of medical genetics. Part A.

Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review

John J. Mitchell, L. Korngut, M. Taljaard, 2020, Orphanet Journal of Rare Diseases.