Elevated Inflammatory Plasma Biomarkers in Patients With Fabry Disease: A Critical Link to Heart Failure With Preserved Ejection Fraction
Yogasundaram, Haran, Nikhanj, Anish, Putko, Brendan N, Boutin, Michel, Jain-Ghai, Shailly, Khan, Aneal, Auray-Blais, Christiane, West, Michael L, Oudit, Gavin Y
Published in Journal of the American Heart Association (06.11.2018)
Published in Journal of the American Heart Association (06.11.2018)
Get full text
Journal Article
Family‐centred care interventions for children with chronic conditions: A scoping review
Chow, Andrea J., Saad, Ammar, Al‐Baldawi, Zobaida, Iverson, Ryan, Skidmore, Becky, Jordan, Isabel, Pallone, Nicole, Smith, Maureen, Chakraborty, Pranesh, Brehaut, Jamie, Cohen, Eyal, Dyack, Sarah, Gillis, Jane, Goobie, Sharan, Greenberg, Cheryl R., Hayeems, Robin, Hutton, Brian, Inbar‐Feigenberg, Michal, Jain‐Ghai, Shailly, Khangura, Sara, MacKenzie, Jennifer J., Mitchell, John J., Moazin, Zeinab, Nicholls, Stuart G., Pender, Amy, Prasad, Chitra, Schulze, Andreas, Siriwardena, Komudi, Sparkes, Rebecca N., Speechley, Kathy N., Stockler, Sylvia, Taljaard, Monica, Teitelbaum, Mari, Trakadis, Yannis, Van Karnebeek, Clara, Walia, Jagdeep S., Wilson, Kumanan, Potter, Beth K.
Published in Health expectations : an international journal of public participation in health care and health policy (01.02.2024)
Published in Health expectations : an international journal of public participation in health care and health policy (01.02.2024)
Get full text
Journal Article
Pre‐school neurocognitive and functional outcomes after liver transplant in children with early onset urea cycle disorders, maple syrup urine disease, and propionic acidemia: An inception cohort matched‐comparison study
Jain‐Ghai, Shailly, Joffe, Ari R., Bond, Gwen Y., Siriwardena, Komudi, Chan, Alicia, Yap, Jason Y. K., Hajihosseini, Morteza, Dinu, Irina A., Acton, Bryan V., Robertson, Charlene M. T.
Published in JIMD reports (01.03.2020)
Published in JIMD reports (01.03.2020)
Get full text
Journal Article
PTPN11 gene mutation associated with abnormal gonadal determination
Jain Ghai, Shailly, Keating, Sarah, Chitayat, David
Published in American journal of medical genetics. Part A (01.05.2011)
Published in American journal of medical genetics. Part A (01.05.2011)
Get full text
Journal Article
Adult-onset presentation of a urea cycle disorder necessitating intensive care unit admission
Anderson, Dustin, Jain-Ghai, Shailly, Sligl, Wendy I.
Published in Canadian journal of anesthesia (01.08.2020)
Published in Canadian journal of anesthesia (01.08.2020)
Get full text
Journal Article
Diagnostic yield of clinical exome sequencing in adulthood in medical genetics clinics
Mainali, Apurba, Athey, Taryn, Bahl, Shalini, Hung, Clara, Caluseriu, Oana, Chan, Alicia, Eaton, Alison, Ghai, Shailly Jain, Kannu, Peter, MacPherson, Melissa, Niederhoffer, Karen Y., Siriwardena, Komudi, Mercimek‐Andrews, Saadet
Published in American journal of medical genetics. Part A (01.02.2023)
Published in American journal of medical genetics. Part A (01.02.2023)
Get full text
Journal Article
Outcomes of mitochondrial long chain fatty acid oxidation and carnitine defects from a single center metabolic genetics clinic
Ambrose, Anastasia, Sheehan, Melissa, Bahl, Shalini, Athey, Taryn, Ghai-Jain, Shailly, Chan, Alicia, Mercimek-Andrews, Saadet
Published in Orphanet journal of rare diseases (15.09.2022)
Published in Orphanet journal of rare diseases (15.09.2022)
Get full text
Journal Article
Core Outcome Sets for Medium-Chain Acyl-CoA Dehydrogenase Deficiency and Phenylketonuria
Pugliese, Michael, Tingley, Kylie, Chow, Andrea, Pallone, Nicole, Smith, Maureen, Chakraborty, Pranesh, Geraghty, Michael T, Irwin, Julie K, Mitchell, John J, Stockler, Sylvia, Nicholls, Stuart G, Offringa, Martin, Rahman, Alvi, Tessier, Laure A, Butcher, Nancy J, Iverson, Ryan, Lamoureux, Monica, Clifford, Tammy J, Hutton, Brian, Paik, Karen, Tao, Jessica, Skidmore, Becky, Coyle, Doug, Duddy, Kathleen, Dyack, Sarah, Greenberg, Cheryl R, Jain Ghai, Shailly, Karp, Natalya, Korngut, Lawrence, Kronick, Jonathan, MacKenzie, Alex, MacKenzie, Jennifer, Maranda, Bruno, Potter, Murray, Prasad, Chitra, Schulze, Andreas, Sparkes, Rebecca, Taljaard, Monica, Trakadis, Yannis, Walia, Jagdeep, Potter, Beth K
Published in Pediatrics (01.08.2021)
Published in Pediatrics (01.08.2021)
Get full text
Journal Article
Conference Proceeding
Clinical and biochemical phenotypes, genotypes, and long-term outcomes of individuals with galactosemia type I from a single metabolic genetics center in Alberta
Almenabawy, Nihal, Bahl, Shalini, Ostlund, Alyssa-Lyn, Ghai-Jain, Shailly, Sosova, Iveta, Chan, Alicia, Mercimek-Andrews, Saadet
Published in Molecular genetics and metabolism reports (01.03.2024)
Published in Molecular genetics and metabolism reports (01.03.2024)
Get full text
Journal Article
P206: Genetic landscape of primary mitochondrial disorders due to pathogenic variants in the mitochondrial and nuclear genome in childhood and adulthood
Ambrose, Anastasia, Sharma, Saloni, Zhang, Dan, Bhal, Shalini, Hung, Clara, Jain-Ghai, Shailly, Chan, Alicia, Andrews, Saadet
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
Get full text
Journal Article
Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review
Pugliese, Michael, Tingley, Kylie, Chow, Andrea, Pallone, Nicole, Smith, Maureen, Rahman, Alvi, Chakraborty, Pranesh, Geraghty, Michael T, Irwin, Julie, Tessier, Laure, Nicholls, Stuart G, Offringa, Martin, Butcher, Nancy J, Iverson, Ryan, Clifford, Tammy J, Stockler, Sylvia, Hutton, Brian, Paik, Karen, Tao, Jessica, Skidmore, Becky, Coyle, Doug, Duddy, Kathleen, Dyack, Sarah, Greenberg, Cheryl R, Ghai, Shailly Jain, Karp, Natalya, Korngut, Lawrence, Kronick, Jonathan, MacKenzie, Alex, MacKenzie, Jennifer, Maranda, Bruno, Mitchell, John J, Potter, Murray, Prasad, Chitra, Schulze, Andreas, Sparkes, Rebecca, Taljaard, Monica, Trakadis, Yannis, Walia, Jagdeep, Potter, Beth K
Published in Orphanet journal of rare diseases (14.01.2020)
Published in Orphanet journal of rare diseases (14.01.2020)
Get full text
Journal Article
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
Tingley, Kylie, Lamoureux, Monica, Pugliese, Michael, Geraghty, Michael T, Kronick, Jonathan B, Potter, Beth K, Coyle, Doug, Wilson, Kumanan, Kowalski, Michael, Austin, Valerie, Brunel-Guitton, Catherine, Buhas, Daniela, Chan, Alicia K J, Dyack, Sarah, Feigenbaum, Annette, Giezen, Alette, Goobie, Sharan, Greenberg, Cheryl R, Ghai, Shailly Jain, Inbar-Feigenberg, Michal, Karp, Natalya, Kozenko, Mariya, Langley, Erica, Lines, Matthew, Little, Julian, MacKenzie, Jennifer, Maranda, Bruno, Mercimek-Andrews, Saadet, Mohan, Connie, Mhanni, Aizeddin, Mitchell, Grant, Mitchell, John J, Nagy, Laura, Napier, Melanie, Pender, Amy, Potter, Murray, Prasad, Chitra, Ratko, Suzanne, Salvarinova, Ramona, Schulze, Andreas, Siriwardena, Komudi, Sondheimer, Neal, Sparkes, Rebecca, Stockler-Ipsiroglu, Sylvia, Trakadis, Yannis, Turner, Lesley, Van Karnebeek, Clara, Vallance, Hilary, Vandersteen, Anthony, Walia, Jagdeep, Wilson, Ashley, Wilson, Brenda J, Yu, Andrea C, Yuskiv, Nataliya, Chakraborty, Pranesh
Published in Orphanet journal of rare diseases (10.04.2020)
Published in Orphanet journal of rare diseases (10.04.2020)
Get full text
Journal Article
Hyperleucinosis during infections in maple syrup urine disease post liver transplantation
Guilder, Laura, Prada, Carlos E., Saenz, Sofia, Jain-Ghai, Shailly, Karp, Natalya, Mazariegos, George, Ratko, Suzanne, Salvarinova, Ramona, Mercimek-Andrews, Saadet
Published in Molecular genetics and metabolism reports (01.06.2021)
Published in Molecular genetics and metabolism reports (01.06.2021)
Get full text
Journal Article
Families’ healthcare experiences for children with inherited metabolic diseases: protocol for a mixed methods cohort study
Chow, Andrea J, Iverson, Ryan, Lamoureux, Monica, Tingley, Kylie, Jordan, Isabel, Pallone, Nicole, Smith, Maureen, Al-Baldawi, Zobaida, Chakraborty, Pranesh, Brehaut, Jamie, Chan, Alicia, Cohen, Eyal, Dyack, Sarah, Gillis, Lisa Jane, Goobie, Sharan, Graham, Ian D, Greenberg, Cheryl R, Grimshaw, Jeremy M, Hayeems, Robin Z, Jain-Ghai, Shailly, Jolly, Ann, Khangura, Sara, MacKenzie, Jennifer J, Major, Nathalie, Mitchell, John J, Nicholls, Stuart G, Pender, Amy, Potter, Murray, Prasad, Chitra, Prosser, Lisa A, Schulze, Andreas, Siriwardena, Komudi, Sparkes, Rebecca, Speechley, Kathy, Stockler, Sylvia, Taljaard, Monica, Teitelbaum, Mari, Trakadis, Yannis, van Karnebeek, Clara, Walia, Jagdeep S, Wilson, Brenda J, Wilson, Kumanan, Potter, Beth K
Published in BMJ open (22.02.2022)
Published in BMJ open (22.02.2022)
Get full text
Journal Article
Galsulfase treatment in two siblings with mucopolysaccharidosis type VI: A case report
Roston, Alexandra, Hung, Clara, Chan, Alicia, Jain-Ghai, Shailly
Published in Molecular genetics and metabolism (01.02.2019)
Published in Molecular genetics and metabolism (01.02.2019)
Get full text
Journal Article