Publications and Abstracts

CIMDRN Publications

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, and Potter BK on behalf of the Canadian Inherited Metabolic Diseases Research Network (CIMDRN). 'Experiences of caregivers of children with inherited metabolic diseases: a qualitative study'. Orphanet Journal of Rare Diseases 2016, 11:168.
doi: 10.1186/s13023-016-0548-2.

Karaceper MD, Chakraborty P, Coyle D, Wilson K, Kronick JB, Hawken S, Davies C, Brownell M, Dodds L, Feigenbaum A, Fell DB, Grosse SD, Guttmann A, Laberge AM, Mhanni A, Miller FA, Mitchell JJ, Nakhla M, Prasad C, Rockman-Greenberg C, Sparkes R, Wilson BJ, and Potter BK on behalf of the Canadian Inherited Metabolic Diseases Research Network. 'The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study'. Orphanet Journal of Rare Diseases 2016, 11:12. doi: 10.1186/s13023-016-0391-5.

Khangura SD, Tingley K, Chakraborty P, Coyle D, Kronick J, Laberge AM, Little J, Miller F, Mitchell JJ, Prasad C, Siddiq S, Siriwardena K, Sparkes R, Speechley KN, Stockler S, Trakadis Y, Wilson BJ, Wilson K, and Potter BK on behalf of the Canadian Inherited Metabolic Diseases Research Network (CIMDRN). ‘Child and family experiences with inborn errors of metabolism: a qualitative interview study with representatives of patient groups’. Journal of Inherited Metabolic Disease 2015, 39:139.
doi: 10.1007/s10545-015-9881-1.

Potter BK, Khangura SD, Tingley K, Chakraborty P, Little J, in collaboration with the Canadian Inherited Metabolic Diseases Research Network. 'Translating rare-disease therapies into improved care for patients and families: what are the right outcomes, designs, and engagement approaches in health-systems research?' Genetics In Medicine 2015, 18, 117–123. doi:10.1038/gim.2015.42.

Lamoureux MF, Tingley K, Kronick JB, Potter BK, Chan AKJ, Coyle D, Dodds L, Dyack S, Feigenbaum A, Geraghty MT, Gillis J, Rockman-Greenberg C, Khan A, Little J, MacKenzie J, Maranda B, Mhanni A, Mitchell JJ, Mitchell G, Laberge AM, Potter M, Prasad C, Siriwardena K, Speechley KN, Stockler S, Trakadis Y, Turner L, van Karnebeek C, Wilson K, Chakraborty P, on behalf of the Canadian Inherited Metabolic Diseases Research Network. 'Metabolic clinic atlas: Organization of care for children with inherited metabolic disease in Canada.' JIMD Reports 2015, 21, 15-22. doi: 10.1007/8904_2014_347.

Khangura SD, Karaceper MD, Trakadis Y, Mitchell JJ, Chakraborty P, Tingley K, Coyle D, Grosse SD, Kronick JB, Laberge AM, Little J, Prasad C, Sikora L, Siriwardena K, Sparkes R, Speechley KN, Stockler S, Wilson BJ, Wilson K, Zayed R, Potter BK, on behalf of the Canadian Inherited Metabolic Diseases Research Network (CIMDRN). 'Scoping review of patient- and family-oriented outcomes and measures for chronic pediatric disease.' BMC Pediatrics 2015; 15(7). doi:10.1186/s12887-015-0323-x

Trakadis YJ*, Alfares A, Bodamer OA, Buyukavci M, Christodoulou J, Connor P, Glamuzina E, Gonzalez-Fernandez F, Bibi H, Echenne B, Manoli I, Mitchell J*, Nordwall M, Prasad C*, Scaglia F, Schiff M, Schrewe B, Touati G, Tchan MC, Varet B, Venditti CP, Zafeiriou D, Rupar CA, Rosenblatt DS, Watkins D, Braverman N. 'Update on transcobalamin deficiency: clinical presentation, treatment and outcome'. Journal of Inherited Metabolic Disease 2014; 37(3): 461-473. doi:10.1007/s10545-013-9664-5
* denotes CIMDRN investigators

Potter, BK, Chakraborty, P., Kronick, J.B., Wilson, K., Coyle, D., Feigenbaum, A., Geraghty, M., Karaceper, M., Little, J., Mhanni, A., Mitchell, J., Siriwardena, S., Wilson, B.J., Syrowatka, A. on behalf of the Canadian Inherited Metabolic Diseases Research Network. ‘Achieving the “triple aim” for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence framework'. Genetics in Medicine 2012; 15(6): 415-422. doi: 10.1038/gim.2012.153

CIMDRN Abstracts

2017

Beth K. Potter, Michael Pugliese, Alana K. Fairfax, Laure Tessier, Monica Lamoureux, Pranesh Chakraborty, Doug Coyle, Jonathan B. Kronick, Kumanan Wilson, Alette Giezen, Robin Hayeems, Shailly Jain, Anne-Marie Laberge, Julian Little, John J. Mitchell, Chitra Prasad, Komudi Siriwardena, Rebecca Sparkes, Kathy N. Speechley, Sylvia Stockler, Kylie Tingley, Yannis Trakadis, Jagdeep Walia, Brenda J. Wilson. Parent-reported experiences with health care for children with inherited metabolic diseases in Canada: results from a multi-centre survey. Presented at the Society for Medical Decision Making 39th North American Meeting, Pittsburgh, Pennsylvania, United States of America, October 22-25th 2017. Poster.

Pranesh Chakraborty, Kylie Tingley, Mike Kolwalski, Monica Lamoureux, Beth K. Potter, Doug Coyle, Kumanan Wilson, Valerie Austin, Catherine Brunel, Daniela Buhas, Maggie Chapman, Alicia K.J. Chan, Sarah Dyack, Annette Feigenbaum, Michael Geraghty, Alette Giezen, Jane Gillis, Sharan Goobie, Shailly Jain, Mariya Kozenko, Erica Langley, Julian Little, Jennifer MacKenzie, Bruno Maranda, Aizeddin Mhanni, Grant Mitchell, John J. Mitchell, Laura Nagy, Amy Pender, Murray Potter, Chitra Prasad, Suzanne Ratko, Ramona Salvarinova, Andreas Schulze, Komudi Siriwardena, Neal Sondheimer, Rebecca Sparkes, Sylvia Stockler, Yannis Trakadis, Lesley Turner, Keiko Ueda, Clara Van Karnebeek, Hilary Vallance, Anthony Vandersteen, Jagdeep Walia, Brenda J. Wilson, Nataliya Yuskiv, and Jonathan B. Kronick. Variation in diagnostic care and disease classification for PAH deficiency: Initial findings from the Canadian Inherited Metabolic Diseases Research Network (CIMDRN). Presented at the Garrod Symposium, Montreal, Quebec, Canada, May 4-6 2017.

Alana K. Fairfax, Jamie Brehaut, Ian Colman, Laure Tessier, Monica Lamoureux, Pranesh Chakraborty, Doug Coyle, Jonathan B. Kronick, Alette Giezen, Robin Hayeems, Shailly Jain, Sara Khangura, Anne-Marie Laberge, Julian Little, John J. Mitchell, Chitra Prasad, Komudi Siriwardena, Rebecca Sparkes, Kathy N. Speechley, Sylvia Stockler, Kylie Tingley, Yannis Trakadis, Jagdeep Walia, Brenda J. Wilson, Kumanan Wilson, Beth K. Potter . The role of coping on the association between caregiving complexity and quality of life among parents of children with inherited metabolic diseases. Presented at the Garrod Symposium, Montreal, Quebec, Canada, May 4-6 2017.

Alessia V. Kazakova, Pranesh Chakraborty, Michael T. Geraghty, Ian D. Graham, Jessie McGowan, Franco Momoli, Beth K. Potter. Systematic and scoping reviews to identify guidelines and actual practice for the diagnosis and management of MCADD and VLCADD. Presented at the Garrod Symposium, Montreal, Quebec, Canada, May 4-6 2017.

Alessia V. Kazakova, Michael Geraghty, Beth K. Potter, Franco Momoli, Ian D. Graham, Kylie Tingley, Mike Kowalski, Monica Lamoureux, Jonathan B. Kronick, Hilary Vallance, Doug Coyle, Kumanan Wilson, Catherine Brunel, Daniela Buhas, Maggie Chapman, Alicia K.J. Chan, Sarah Dyack, Annette Feigenbaum, Alette Giezen, Jane Gillis, Sharan Goobie, Shailly Jain, Mariya Kozenko, Erica Langley, Julian Little, Jennifer MacKenzie, Bruno Maranda, Aizeddin Mhanni, Grant Mitchell, John J. Mitchell, Laura Nagy, Amy Pender, Murray Potter, Chitra Prasad, Suzanne Ratko, Ramona Salvarinova, Andreas Schulze, Komudi Siriwardena, Neal Sondheimer, Rebecca Sparkes, Sylvia Stockler, Yannis Trakadis, Lesley Turner, Keiko Ueda, Clara Van Karnebeek, Anthony Vandersteen, Jagdeep Walia, Brenda J. Wilson, and Pranesh Chakraborty. Describing MCADD management using Canadian pediatric data: preliminary findings on genotype and phenotype. Presented at the Garrod Symposium, Montreal, Quebec, Canada, May 4-6 2017.

Karen Paik, Maureen Latocki, Matthew A. Lines, Sara D. Khangura, Pranesh Chakraborty, Walla Al-Hertani , Catherine Brunel-Guitton, Aneal Khan, Cheryl Rockman-Greenberg, Tony Rupar, Neal Sondheimer, Mark Tarnopolsky, Doug Coyle, Sarah Dyack, Annette Feigenbaum, Michael T. Geraghty, Jane Gillis, Clara van Karnebeek, Jonathan B. Kronick, Julian Little, Murray Potter, Komudi Siriwardena, Rebecca Sparkes, Lesley A. Turner, Kumanan Wilson, Beth K. Potter. Health care for mitochondrial disorders in Canada: A survey of physicians. Presented at the Garrod Symposium, Montreal, Quebec, Canada, May 4-6 2017.

Pranesh Chakraborty, Nataliya Yuskiv, Jonathan B. Kronick, Monica Lamoureux, Beth K. Potter, Kylie Tingley, on behalf of the Canadian Inherited Metabolic Diseases Research Network (CIMDRN). Data Quality Management and Results from a Pan-Canadian Chart Review Study of Children Affected by Inherited Metabolic Diseases. Presented at the 2017 ACMG Annual Clinical Genetics Meeting, Pheonix, Arizona, United States of America, March 21-25 2017.

Alessia Kazakova, Pranesh Chakraborty, Michael T Geraghty, Ian D Graham, Franco Momoli, Beth K Potter.. A Systematic Review on Diagnosis and Management Guidelines for Fatty Acid Oxidation Disorders. Presented at the 2017 ACMG Annual Clinical Genetics Meeting, Pheonix, Arizona, United States of America, March 21-25 2017.

Nataliya Yuskiv, Pranesh Chakraborty, Monica Lamoureux, Beth K. Potter, Sylvia Stockler, Kylie Tingley, on behalf of the Canadian Inherited Metabolic Diseases Research Network (CIMDRN). The Canadian Inherited Metabolic Diseases Research Network: Variation in Management of PAH Deficiency (PKU) in Canada. Findings from a Canadian Metabolic Dietitians’ Survey and CIMDRN Longitudinal Clinical Data Collection Study. Presented at the 2017 ACMG Annual Clinical Genetics Meeting, Pheonix, Arizona, United States of America, March 21-25 2017.

2016

Lamoureux M, Tessier L, Khangura S, Tingley K, Schellenberger S, Barr C, Bloomfield E, Henderson N, Lafrance G, Mohan C, Napier M, Pender A, Rideout K, Schellevis K, Wafa S, Wallace K, Wilson A, Yuskiv N, Chakraboty P, Coyle D, Kronick J, Wilson K, Potter BK, on behalf of the Canadian Inherited Metabolic Diseases Research Network (CIMDRN). ‘Building a national research network for inherited metabolic diseases: management & research coordination of the Canadian Inherited Metabolic Diseases Research Network (CIMDRN)’. Presented at the: Society of Clinical Research Associates (SOCRA) annual conference, September 29-October 2, 2016, Montreal QC (poster presentation).

Tessier L, Lamoureux M, Khangura S, Tingley K, Schellenberger S, Barr C, Bloomfield E, Henderson N, Lafrance G, Mohan C, Napier M, Pender A, Rideout K, Schellevis K, Wafa S, Wallace K, Wilson A, Yuskiv N, Chakraboty P, Coyle D, Kronick J, Wilson K, Potter BK, on behalf of the Canadian Inherited Metabolic Diseases Research Network (CIMDRN). ‘Obtaining research ethics board approval for a multi-centre study – the Canadian Inherited Metabolic Disease Research Network experience’. Presented at the: Society of Clinical Research Associates (SOCRA) annual conference, September 29-October 2, 2016, Montreal QC (poster presentation).

Davies C, Khangura SD, Karaceper MD, Chakraborty P, Coyle D, Wilson K, Ducharme R, Hawken S, and Potter BK in collaboration with the Canadian Inherited Metabolic Diseases Research Network (CIMDRN) and members of The Canadian Hemoglobinopathy Association (CanHaem). 'Health System Impact of Positive Newborn Screening Results'. Presented at the: 9th Annual International Society for Neonantal Screening Meeting, September 11-14, 2016, The Hague, Netherlands (platform presentation).

Chakraborty P, Tingley K. 'A Canadian IMD Cohort: Clinical Description and Research Potential'. Presented at the Garrod Symposium 2016: May 20, 2016, Halifax, NS (platform presentation).

Khangura S. 'The Health System Impact of Newborn Screening for IMD'. Presented at the Garrod Symposium 2016: May 20, 2016, Halifax, NS (platform presentation).

Potter B. 'Patient and Family Experiences with Health Care for IMD'. Presented at the Garrod Symposium 2016: May 20, 2016, Halifax, NS (platform presentation).

Tingley K. 'Synthesizing Evidence About Treatments for Rare Diseases'. Presented at the Garrod Symposium 2016: May 20, 2016, Halifax, NS (platform presentation).

Yuskiv N. 'A Comprehensive Perspective on the Canadian Experience of Modern PKU Management'. Presented at the Garrod Symposium 2016: May 20, 2016, Halifax, NS (platform presentation).

Khangura SD, Karaceper MD, Chakraborty P, Coyle D, Wilson K, Brownell M, Davies C, Dodds L, Ducharme R, Feigenbaum A, Fell D, Guttmann A, Hawken S, Hayeems R, Kronick JB, Laberge AM, Mhanni A, Nakhla M, Rockman-Greenberg C, Sparkes R, Ueda K, Wilson BJ, Potter BK, on behalf of the Canadian Inherited Metabolic Diseases Research Network (CIMDRN).'Health system impact of false-positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency and phenylketonuria in Ontario, Canada'. Presented at the: 2016 Canadian Newborn and Child Screening Symposium, April 22, 2016, Ottawa ON (platform presentation).

Khangura SD, Chakraborty P, Coyle D, Wilson K, Brownell M, Davies C, Dodds L, Ducharme R, Feigenbaum A, Fell D, Guttmann A, Hawken S, Hayeems R, Kronick JB, Laberge AM, Mhanni A, Nakhla M, Rockman-Greenberg C, Sparkes R, Ueda K, Wilson BJ and Potter BK on behalf of the Canadian Inherited Metabolic Diseases Research Network (CIMDRN).' Health services use among children diagnosed with phenylketonuria through newborn screening in Ontario, 2006-2012'. Presented at the: 2016 Canadian Newborn and Child Screening Symposium, April 21-22, 2016, Ottawa ON (poster presentation).

Tingley KT, Potter BK, Coyle D, Sikora L, Chakraborty P, Wilson K. 'Developing an evidence framework for establishing treatment effectiveness in rare diseases'. Presented at the: 2016 CADTH Symposium, April 11 2016, Ottawa ON (platform presentation).

Khangura SD, Chakraborty P, Coyle D, Wilson K, Brownell M, Dodds L, Feigenbaum A, Fell D, Guttmann A, Hayeems R, Kronick JB, Laberge AM, Mhanni A, Nakhla M, Rockman-Greenberg C, Sparkes R, Ueda K, Vallance H, Wilson BJ and Potter BK on behalf of the Canadian Inherited Metabolic Diseases Research Network (CIMDRN). 'Epidemiology and health system impact of false-positive newborn screening for phenylketonuria in Ontario, 2006-2012'. Presented at the: 2016 CADTH Symposium, April 10-12 2016, Ottawa ON (poster presentation).

Potter BK, Khangura SD, Chakraborty P, Davies C, Coyle D, Wilson K, Brownell M, Dodds L, Feigenbaum A, Fell D, Guttmann A, Hawken S, Hayeems R, Kronick JB, Laberge AM, Mhanni A, Nakhla M, Rockman-Greenberg C, Sparkes R, Ueda K, Vallance H, Wilson BJ on behalf of the Canadian Inherited Metabolic Diseases Research Network (CIMDRN). 'Epidemiology and health system impact of true-positive and false-positive newborn screening results for phenylketonuria in Ontario, 2006-2012'. Presented at the: 13th International Congress of Human Genetics, April 7, 2016, Kyoto JP (platform presentation).

Potter BK, Chakraborty P, Lamoureux M, Tingley K, Coyle D, Kronick JB, Wilson K, Austin V, Brunel C, Buhas D, Chapman M, Chan AKJ, Dyack S, Feigenbaum A, Geraghty M, Giezen A, Gillis J, Jain S, Langley E, Little J, MacKenzie J, Maranda B, Mhanni A, Mitchell G, Mitchell JJ, Nagy L, Pender A, Potter M, Prasad C, Siriwardena K, Sparkes R, Stockler S, Trakadis Y, Turner L, VanKarnebeek C, Vallance H, Walia J, Wilson BJ on behalf of the Canadian Inherited Metabolic Diseases Research Network (CIMDRN). 'The Canadian Inherited Metabolic Diseases Research Network: Initial findings from a pan-Canadian longitudinal study of affected children'. Presented at the: 13th International Congress of Human Genetics, April 7, 2016, Kyoto JP (platform presentation).

Potter BK, Siddiq S, Wilson BJ, Graham ID, Lamoureux M, Khangura SD, Tingley K, Tessier L, Wafa S, Yuskiv N, Chakraborty P, Laberge AM, Prasad C, Mitchell JJ, Speechley KN, Siriwardena K, Trakadis Y, Sparkes R, Giezen A, Walia J, Hayeems R, Jain S, Greenberg C, Stockler S, on behalf of the Canadian Inherited Metabolic Diseases Research Network (CIMDRN). 'The little things that matter: A qualitative study of the disease management experiences of caregivers of children with inherited metabolic diseases'. Presented at the: 13th International Congress of Human Genetics, April 4, 2016, Kyoto JP (poster presentation).

Feigenbaum A, Khangura SD, Karaceper MD, Chakraborty P, Coyle D, Wilson K, Brownell M, Davies C, Dodds L, Fell D, Guttmann A, Hawken S, Hayeems R, Kronick JB, Laberge AM, Mhanni A, Nakhla M, Rockman-Greenberg C, Sparkes R, Ueda K, Wilson BJ and Potter BK on behalf of the Canadian Inherited Metabolic Diseases Research Network (CIMDRN). 'Health system impact of false-positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency and phenylketonuria in Ontario, Canada'. Presented at the: 39th Annual Society for Inborn Errors of Metabolism Meeting, April 4, 2016, Ponte Vedra Beach FL (poster presentation).

Khangura SD, Karaceper MD, Chakraborty P, Coyle D, Wilson K, Brownell M, Davies C, Dodds L, Ducharme R, Feigenbaum A, Fell D, Guttmann A, Hawken S, Hayeems R, Kronick JB, Laberge AM, Mhanni A, Nakhla M, Rockman-Greenberg C, Sparkes R, Ueda K, Wilson BJ and Potter BK on behalf of the Canadian Inherited Metabolic Diseases Research Network (CIMDRN). 'Health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency and phenylketonuria in Ontario, Canada'. Presented at the: American College of Genetics and Genomics Annual Meeting, March 11, 2016, Tampa FL.

Tingley K, Potter BK, Coyle D, Sikora L, Chakraborty P, Wilson K, in collaboration with the Canadian Inherited Metabolic Diseases Research Network (CIMDRN). 'Developing an evidence framework for establishing treatment effectiveness in rare diseases'. Presented at the: American College of Genetics and Genomics Annual Meeting, March 11, 2016, Tampa FL.

Tingley K, Lamoureux M, Coyle D, Kronick JB, Wilson K, Austin V, Brunel C, Buhas D, Chapman M, Chan AKJ, Dyack S, Feigenbaum A, Geraghty M, Giezen A, Gillis J, Jain S, Kozenko M, Langley E, Little J, MacKenzie J, Maranda B, Mhanni A, Mitchell G, Mitchell JJ, Nagy L, Pender A, Potter M, Prasad C, Ratko S, Salvarinova R, Schulze A, Siriwardena K, Sondheimer N, Sparkes R, Stockler S, Trakadis Y, Turner L, Ueda K, van Karnebeek C, Vallance H, Walia J, Wilson BJ, Potter BK, and Chakraborty P, on behalf of the Canadian Inherited Metabolic Diseases Research Network (CIMDRN). 'The Canadian Inherited Metabolic Diseases Research Network: Initial findings from a pan-Canadian longitudinal study of affected children'. Presented at the: American College of Genetics and Genomics Annual Meeting, March 10, 2016, Tampa FL.

2015

Siddiq S, Wilson BJ, Graham ID, Khangura SD, Tingley K, Potter BK, on behalf of the Canadian Inherited Metabolic Diseases Research Network (CIMDRN). 'Integration of studies to identify patient-and family-oriented outcomes for children diagnosed with inherited metabolic diseases (IMD) in Canada: A Meta-Synthesis Approach'. Presented at the: Canadian Society for Epidemiology and Biostatistics (CSEB) 2015 Conference, June 1-4 2015, Mississauga ON (poster presentation)

Tingley K, Potter BK, Coyle D, Sikora L, in collaboration with the Canadian Inherited Metabolic Diseases Research Network (CIMDRN). Developing an evidence framework for establishing treatment effectiveness in rare diseases. Presented at the: Canadian Society for Epidemiology and Biostatistics (CSEB) 2015 Conference, June 1-4 2015, Mississauga ON (poster presentation)

Kronick JB, Potter BK, Chakraborty P, Lamoureux M, Tingley K, Coyle D, Wilson K, Austin V, Brunel C, Buhas D, Chapman M, Chan AKJ, Dyack S, Feigenbaum A, Geraghty M, Giezen A, Gillis J, Jain S, Khan A, Langley E, Little J, MacKenzie J, Maranda B, Mhanni A, Mitchell G, Mitchell JJ, Nagy L, Pender A, Potter M, Prasad C, Siriwardena K, Sparkes R, Stockler S, Trakadis Y, Turner L, Van Karnebeek C, Vallance H, Walia J, Wilson B, on behalf of the Canadian Inherited Metabolic Diseases Research Network (CIMDRN). 'The Canadian Inherited Metabolic Diseases Research Network: Initial findings from a pan-Canadian longitudinal study of affected children'. Presented at the: 2015 Garrod Symposium, May 21-23 2015, Vancouver BC (poster presentation)

Siddiq S, Wilson BJ, Graham ID, Lamoureux M, Khangura SD, Tingley K, Tessier L, Wafa S, Yuskiv N, Chakraborty P, Laberge AM, Prasad C, Miller FA, Mitchell JJ, Speechley KN, Siriwardena K, Grosse SD, Trakadis Y, Sparkes R, Giezend A, Walia J, Hayeems R, Jain S, Greenberg C, and Potter BK, on behalf of the Canadian Inherited Metabolic Diseases Research Network (CIMDRN). 'The little things that matter: A qualitative study of the disease management experiences of caregivers of children with inherited metabolic diseases.' Presented at the: 2015 Garrod Symposium, May 21-23 2015, Vancouver BC (poster presentation)

Tingley K, Potter BK, Geraghty MT, Little J, Sikora L, in collaboration with the Canadian Inherited Metabolic Diseases Research Network (CIMDRN). 'Examining the genotype-phenotype relationship for patients with very-long-chain acyl CoA dehydrogenase deficiency: A systematic review'. Presented at the: 2015 Garrod Symposium, May 21-23 2015, Vancouver BC (poster presentation)

Khangura SD, Karaceper MD, Trakadis Y, Mitchell JJ, Chakraborty P, Tingley K, Coyle D, Grosse SD, Kronick JB, Laberge AM, Little J, Prasad C, Sikora L, Siriwardena K, Sparkes R, Speechley KN, Stockler S, Wilson BJ, Wilson K, Zayed R, and Potter BK on behalf of the Canadian Inherited Metabolic Diseases Research Network (CIMDRN). 'Patient- and family-oriented outcomes and measures for research into pediatric inborn errors of metabolism: results from a scoping review'. Presented at the: Core Outcome Measures in Effectiveness Trials (COMET) V Meeting, May 20-21 2015, Calgary AB (poster presentation)

Kronick JB, Potter BK, Chakraborty P, Lamoureux M, Tingley K, Coyle D, Wilson K, Austin V, Brunel C, Buhas D, Chapman M, Chan AKJ, Dyack S, Feigenbaum A, Geraghty M, Giezen A, Gillis J, Jain S, Khan A, Langley E, Little J, MacKenzie J, Maranda B, Mhanni A, Mitchell G, Mitchell JJ, Nagy L, Pender A, Potter M, Prasad C, Siriwardena K, Sparkes R, Stockler S, Trakadis Y, Turner L, Van Karnebeek C, Vallance H, Walia J, Wilson BJ, on behalf of the Canadian Inherited Metabolic Diseases Research Network. 'The Canadian Inherited Metabolic Diseases Research Network: Initial Findings From a Pan-Canadian Longitudinal Study of Affected Children'. Presented at the: 2015 Canadian Newborn & Child Screening Symposium, May 1 2015, Ottawa ON (platform presentation)

Tingley, K, Potter, BK, Coyle, D, Sikora, L in collaboration with the Canadian Inherited Metabolic Diseases Research Network. 'Developing an Evidence Framework for Establishing Treatment Effectiveness in Rare Diseases'. Presented at: the Canadian GE3LS and Health Services and Policy Research Conference, April 19-21, Vancouver, BC (poster presentation -- PDF file)

Khangura S, Chakraborty P, Coyle D, Kronick J, Laberge AM, Little J, Miller F, Mitchell J, Prasad C, Siriwardena K, Sparkes R, Speechley K, Stockler S, Tingley K, Trakadis Y, Wilson B, Wilson K, Potter B, on behalf of the Canadian Inherited Metabolic Diseases Research Network. 'Patient and Family Experiences with Inborn Errors of Metabolism: A Qualitative Interview Study with Patient Groups'. Presented at: the Canadian GE3LS and Health Services and Policy Research Conference, April 19-21, Vancouver, BC (poster presentation -- PDF file)

Chakraborty P, on behalf of the Canadian Inherited Metabolic Diseases Research Network. 'The Canadian Inherited Metabolic Diseases Research Network: Initial Findings from a Pan-Canadian Longitudinal Study of Affected Children'. Presented at the: American College of Genetics and Genomics Annual Meeting, March 26, 2015, Salt Lake City, UT (poster presentation -- PDF file).

Khangura S, Chakraborty P, Coyle D, Kronick J, Laberge AM, Little J, Miller F, Mitchell J, Prasad C, Siriwardena K, Sparkes R, Speechley K, Stockler S, Tingley K, Trakadis Y, Wilson B, Wilson K, Potter B, on behalf of the Canadian Inherited Metabolic Diseases Research Network. 'Patient and Family Experiences with Inborn Errors of Metabolism: Interviews with Patient Groups.' Presented at the: American College of Genetics and Genomics Annual Meeting, March 26, 2015, Salt Lake City, UT
(poster presentation -- PDF file).

2014

Hernandez M, Chakraborty P, Kronick JB, Potter BK, Chan AKJ, Coyle D, Dyack S, Feigenbaum A, Karaceper M, Khan A, Little J, MacKenzie J, Maranda B, Mhanni A, Mitchell G, Mitchell JJ, Potter M, Prasad C, Siriwardena K, Stockler S, Tingley K, Trakadis Y, Turner L, Van Karnebeek C, Vallance H, Wilson B, Wilson K, on behalf of CIMDRN. 'A REDCap Database to Support Longitudinal Follow-up of Pediatric Patients with Inborn Errors of Metabolism'. Clinical Biochemistry; 47(15): p. 138.
doi: 10.1016/j.clinbiochem.2014.07.040

Karaceper M, Brownell M, Casey R, Chakraborty P, Coyle D, Dodds L, Feigenbaum A, Fell D, Grosse S, Guttman A, Laberge AM, Mhanni A, Miller F, Nakhla M, Rockman-Greenberg C, Sparkes R, Vallance H, Wilson B, Wilson K, Potter BK, on behalf of the Canadian Inherited Metabolic Diseases Research Network. 'The epidemiology and health services impact of medium-chain acyl-CoA dehydrogenase deficiency among affected children and those with false positive newborn screening results in Ontario, Canada'. Clinical Biochemistry; 47(15): pp. 132-133.
doi: 10.1016/j.clinbiochem.2014.07.025

Khangura SD, Chakraborty P, Coyle D, Kronick JB, Laberge AM, Little J, Mitchell JJ, Prasad C, Siriwardena K, Sparkes R, Speechley KN, Stockler S, Tingley K, Trakadis Y, Wilson B, Wilson K, Potter BK on behalf of CIMDRN. 'Patient and family experiences with inborn errors of metabolism: the perspective of patient advocacy and support groups'. Clinical Biochemistry; 47(15): p. 145.
doi: 10.1016/j.clinbiochem.2014.07.062

Khangura SD, Chakraborty P, Coyle D, Karaceper M, Kronick JB, Laberge AM, Little J, Mitchell JJ, Prasad C, Sikora L, Siriwardena K, Sparkes R, Speechley KN, Stockler S, Tingley K, Trakadis Y, Wilson B, Wilson K, Zayed R, Potter BK on behalf of CIMDRN. 'Patient- and family-oriented outcomes for inborn errors of metabolism: A scoping review'. Clinical Biochemistry; 47(15): p. 149. doi: 10.1016/j.clinbiochem.2014.07.073

Kronick JB, Hernandez M, Tingley K, Potter BK, Chan A, Coyle D, Dodds L, Dyack S, Feigenbaum A, Geraghty M, Rockman-Greenberg C, Khan A, Little J, MacKenzie J, Maranda B, Mhanni A, Mitchell JJ, Mitchell G, Laberge AM, Potter M, Prasad C, Siriwardena K, Speechley KN, Stockler S, Turner L, VanKarnebeek C, Wilson K, Chakraborty P, on behalf of the Canadian Inherited Metabolic Diseases Research Network. 'Metabolic clinic atlas: Organization of care for pediatric metabolic patients in Canada'. Clinical Biochemistry; 47(15): p. 149.
doi: 10.1016/j.clinbiochem.2014.07.082

Potter BK, Chakraborty P, Coyle D, Kronick JB, Wilson K, Brownell M, Chan A, Dodds L, Dyack S, Feigenbaum A, Fell D, Geraghty M, Gillis J, Rockman-Greenberg C, Guttman A, Hernandez M, Karaceper M, Khan A, Khangura SD, Laberge AM, Little J, MacKenzie J, Maranda B, Mhanni A, Miller FA, Mitchell JJ, Mitchell G, Nakhla M, Potter M, Prasad C, Siriwardena K, Sparkes R, Speechley KN, Stockler S, Tingley K, Trakadis Y, Turner L, Vallance H, VanKarnebeek C, Wilson B, Yuskiv N, on behalf of CIMDRN. 'Building a pan-Canadian practice-based research network for inherited metabolic diseases: the first two years of the Canadian Inherited Metabolic Diseases Research Network (CIMDRN)'. Clinical Biochemistry; 47(15): pp. 137-138.
doi: 10.1016/j.clinbiochem.2014.07.039 [PDF version of poster]

Stockler-Ipsiroglu S, the Canadian GAMT Consortium (Clara van Karnebeek, Catherine Brunel Guitton, Michael Geraghty, Alina Levtova, Jennifer MacKenzie, Bruno Maranda, Alicia Chan, SaadetMercimek-Mahmutoglu, Aizeddin A. Mhanni, Grant Mitchell, and Andreas Schulze), and CIMDRN (Pranesh Chakraborty, Monica Hernandez, Sara Khangura, Beth Potter). 'Outcomes in 48 individuals with guanidinoacetatemethyltransferase (GAMT) deficiency and establishment of a Canadian longitudinal database'. Clinical Biochemistry; 47(15): p. 151.
doi:10.1016/j.clinbiochem.2014.07.080

Tingley K, Potter BK, Geraghty M, Little J, Sikora L, in collaboration with CIMDRN. 'Examining the genotype-phenotype relationship for patients with very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD): Preliminary results'. Clinical Biochemistry; 47(15): pp. 137.
doi: 10.1016/j.clinbiochem.2014.07.038

2013

Kronick JB, Chakraborty P, Coyle D, Wilson K, Dyack S, Feigenbaum A, Hernandez M, Khan A, Khangura SD, Mitchell JJ, Potter M, Prasad C, Siriwardena K, Sparkes R, Speechley KN, Potter BK on behalf of the Canadian Inherited Metabolic Diseases Research Network (CIMDRN). 'The Canadian Inherited Metabolic Diseases Research Network (CIMDRN): A National, Practice-Based Research Network for Inborn Errors of Metabolism'. Presented at the 2013 International Congress of Inborn Errors of Metabolism , September 3-6, 2013, Barcelona, Spain (poster presentation).

Karaceper M, Chakraborty P, Coyle D, Wilson K, Potter BK, on behalf of the Canadian Inherited Metabolic Diseases Research Network. 'The epidemiology and health system impact of medium-chain acyl-CoA dehydrogenase deficiency among affected children and those with false positive newborn screening results in Ontario, Canada'. Presented at the 2013 Canadian Society for Epidemiology and Biostatistics Biennial Conference, June 27, 2013, St. John's, Newfoundland (platform presentation).

Potter BK, Chakraborty P, Brownell M, Coyle D, Hernandez M, Karaceper M, Khangura SD, Kronick J, Little J, MacKenzie J, Mitchell JJ, Potter M, Speechley K, Stockler S, Trakadis Y, Vallance H, Wilson K on behalf of the Canadian Inherited Metabolic Diseases Research Network (CIMDRN). 'The Canadian Inherited Metabolic Diseases Research Network: A Pan-Canadian, Practice-Based Research Network for Inborn Errors of Metabolism'. Presented at the 2013 Canadian Society for Epidemiology and Biostatistics Biennial Conference, June 26, 2013, St. John's, Newfoundland (platform presentation).

Stockler S, Vallance H, Brownell M, Chakraborty P, Coyle D, Hernandez M, Karaceper M, Khangura SD, Kronick J, Little J, MacKenzie J, Mitchell JJ, Potter M, Speechley K, Trakadis Y, Wilson K, Potter BK on behalf of the Canadian Inherited Metabolic Diseases Research Network (CIMDRN). 'The Canadian Inherited Metabolic Diseases Research Network: Achieving the triple aim for inborn errors of metabolism'. Presented at the: 2013 Annual Canadian Association of Health Services and Policy Research Conference, May 29, 2013, Vancouver BC (poster presentation)

Potter BK, Chakraborty P, Coyle D, Kronick JB, Wilson K, Greenberg C, Hernandez M, Khangura S, Laberge AM, Little J, MacKenzie J, Mhanni A, Mitchell JJ, Prasad C, Speechley K, Stockler S, Wilson BJ, on behalf of the Canadian Inherited Metabolic Diseases Research Network. 'The Canadian Inherited Metabolic Diseases Research Network: A Pan-Canadian, Practice-Based Research Network for Inborn Errors of Metabolism'. Presented at the: International Rare Diseases Research Consortium (IRDiRC) Conference, April 16-17, 2013, Dublin, Ireland (poster presentation).

Hernandez M, Chakraborty P, Kronick J, Potter BK, Chan AKJ, Coyle D, Dyack S, Feigenbaum A, Geraghty MT, Karaceper M, Khan A, Little J, MacKenzie J, Maranda B, Mhanni A, Mitchell G, Mitchell JJ, Potter M, Prasad C, Siriwardena K, Stockler S, Trakadis Y, Turner L, Wilson B, Wilson K on behalf of CIMDRN. ‘A Framework for Developing Clinical Measures to Support Long-term Follow-up of Patients with Inborn Errors of Metabolism’. Presented at the: Canadian Newborn and Child Screening Symposium. Apr 12 2013, Ottawa ON (poster presentation) -- PDF file).

Potter BK, Chakraborty P, Coyle D, Dyack S, Feigenbaum A, Hernandez M, Karaceper M, Khangura SD, Kronick J, MacKenzie J, Mitchell JJ, Prasad C, Stockler S, Trakadis Y, Wilson B, Wilson K on behalf of CIMDRN. ‘The Canadian Inherited Metabolic Diseases Research Network: Development of a Pan-Canadian Practice-Based Research Network for Inborn Errors of Metabolism’. Presented at the: American College of Genetics and Genomics Annual Meeting, March 22, 2013, Phoenix, AZ (poster presentation -- PDF file).

Chakraborty P, Kronick J, Potter BK, Vallance H, Karaceper M, Chan AKJ, Coyle D, Dyack S, Feigenbaum A, Geraghty MT, Hernandez M, Khan A, Little J, MacKenzie J, Maranda B, Mhanni A, Mitchell G, Mitchell J, Potter M, Prasad C, Siriwardena K, Stockler S, Trakadis Y, Turner L, Wilson B, Wilson K, on behalf of CIMDRN. ‘A Framework for Developing Case Definitions and Clinical Measures to Support Longitudinal Research on Outcomes for Inborn Errors of Metabolism’. Presented at the: American College of Genetics and Genomics Annual Meeting, March 22, 2013, Phoenix, AZ (poster presentation -- PDF file).

Karaceper M, Brownell M, Casey R, Chakraborty P, Coyle D, Davies C, Dodds L, Feigenbaum A, Fell D, Greenberg C, Guttmann A, Khan A, Kronick J, Laberge AM, Mhanni A, Miller F, Nakhla M, Prasad C, Vallance H, Wilson B, Wilson K, Potter BK. ‘The epidemiology and health system impact of medium-chain acyl-CoA dehydrogenase deficiency among affected children and those with false positive newborn screening results in Ontario, Canada’. Presented at the: American College of Genetics and Genomics Annual Meeting, March 21, 2013, Phoenix, AZ (poster presentation -- PDF file).

Khangura SD, Chakraborty P, Coyle D, Karaceper M, Kronick J, Laberge AM, Little J, Miller F, Mitchell JJ, Prasad C, Sikora L, Siriwardena K, Speechley K, Trakadis Y, Wilson B, Wilson K, Potter BK, on behalf of CIMDRN. ‘Patient- and Family-Oriented Outcomes for Inborn Errors of Metabolism: A systematic review’. Presented at the: American College of Genetics and Genomics Annual Meeting, March 21, 2013, Phoenix, AZ (poster presentation -- PDF file).

2012

Khangura S, Potter B, Chakraborty P, Feigenbaum A, Hernandez M, Kronick J, Little J, MacKenzie J, Mitchell JJ, Prasad C, Rockman-Greenberg C, Wilson B, on behalf of the Canadian Inherited Metabolic Diseases Research Network (CIMDRN). Establishing a Multidisciplinary, Practice-Based Research Network to Improve Health Care and Outcomes for Paediatric Inborn Errors of Metabolism. International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR) and Canadian Congenital Anomalies Surveillance Network (CCASN) Joint Annual Meeting, Oct 30 – Nov 1, 2012, Ottawa, ON (poster presentation).

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Last updated: 27-October-2017