Shailly Jain Ghai

Portrait of Shailly Jain Ghai

Associate Professor (Special Continuing)

Research:

Dr. Jain's main focus of research is clinical with interest in liver transplantation in inborn errors of metabolism and newborn screening for inborn errors of metabolism. She is local PI for Canadian Inherited Metabolic Diseases Research Network (CIMDRN) and has been sub-investigator in Fabry Disease clinical trials.


Selected Publications:

Hypertryptophanemia due to tryptophan 2,3-dioxygenase deficiency.
Ferreira P, Shin I, Sosova I, Dornevil K, Jain S, Dewey D, Liu F, Liu A.
Mol Genet Metab 2017, 120(4):317-324.

Experiences of caregivers of children with inherited metabolic diseases: a qualitative study.
Siddiq S, Wilson BJ, Graham ID, Lamoureux M, Khangura SD, Tingley K, Tessier L, Chakraborty P, Coyle D, Dyack S, Gillis J, Greenberg C, Hayeems RZ, Jain-Ghai S, Kronick JB, Laberge AM, Little J, Mitchell JJ, Prasad C, Siriwardena K, Sparkes R, Speechley KN, Stockler S, Trakadis Y, Wafa S, Walia J, Wilson K, Yuskiv N, Potter BK; Canadian Inherited Metabolic Diseases Research Network (CIMDRN).
Orphanet Journal of Rare Diseases 2016 7;11(1): 168.

Contiguous gene deletion of chromosome Xp in three families encompassing OTC, RPGR, and TSPAN7 genes.
Shailly Jain-Ghai, Stephanie Skinner, Jessica Hartley, Stephanie Fox, Daniela Buhas, Cheryl Rockman-Greenberg, Alicia Chan.
Journal of rare disorders: Diagnosis and Therapy 2015; 1:3

Fetal onset of ventriculmegaly due to subependymal cysts in a patient with pyridoxine dependent epilepsy.
Shailly Jain-Ghai, Navin Mishra, Cecil Hahn, Susan Blaser, Saadet Mercimek-Mahmutoglu.
Pediatrics 2014; 133:e 1092-e1096

Complex II deficiency - A case report and review of literature.
Shailly Jain-Ghai, Jessie Cameron, Almundher Al-Maawali, Susan Blaser, Nevena MacKay, Brian Robinson, Julian Raiman.
Am J Med Genet Part A 2013, 9999:1-10.