Projects per year
Personal profile
Expertise related to UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):
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Collaborations and top research areas from the last five years
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RareKids-CAN: Pediatric Rare Disease Clinical Trials and Treatment Network
Lacaze-masmonteil, T. T. (PI), Anagnostou, E. E. (CoPI), Baribeau, D. A. D. A. (CoPI), Batthish, M. (CoPI), Bernard, G. G. (CoPI), Bernier, F. (CoPI), Butcher, N. (CoPI), Campbell, C. G. N. (CoPI), Cross, A. A. (CoPI), Dyack, S. J. (CoPI), Gantt, S. M. S. M. (CoPI), Gravel, C. C. (CoPI), Haddad, E. (CoPI), Heath, A. A. (CoPI), Kelly, L. L. (CoPI), King, A. A. (CoPI), Klassen, T. P. (CoPI), Knisley, L. L. (CoPI), Lai, M. M. (CoPI), Lewis, T. R. T. R. (CoPI), Marwaha, A. K. A. K. (CoPI), Mcbride, K. K. (CoPI), Mitchell, J. J. (CoPI), Moore Hepburn, C. C. (CoPI), Mooser, V. E. V. E. (CoPI), Myers, K. A. K. A. (CoPI), Offringa, M. M. (CoPI), Oskoui, M. (CoPI), Portales-casamar, E. (CoPI), Pot, S. S. (CoPI), Potter, E. K. (CoPI), Richer, L. P. L. P. (CoPI), Round, J. J. (CoPI), Stewart, B. B. (CoPI), Subbarao, P. (CoPI), Thebaud, B. (CoPI), Turvey, S. E. (CoPI), Ward, L. M. (CoPI), Wong-rieger, D. D. (CoPI), Wright, N. A. N. A. (CoPI), Yeh, A. E. A. E. (CoPI), Croker, A. K. A. K. (CoPI), Mittmann, N. N. (CoPI), Adamko, D. J. D. J. (CoPI), Arsenault, J. J. (CoPI), Au, P. B. P. B. (CoPI), Banerjee, A. T. A. T. (CoPI), Barnes, R. O. R. O. (CoPI), Berman, J. N. J. N. (CoPI), Beyea, S. S. (CoPI), Bolduc, F. (CoPI), Bourque, G. G. (CoPI), Bourrier, L. L. (CoPI), Boycott, K. (CoPI), Brooks, S. S. (CoPI), Cabral, D. A. (CoPI), Cellucci, T. (CoPI), Chakraborty, P. (CoPI), Chan, A. K. C. A. K. (CoPI), Cheng, S. S. (CoPI), Chugh, A. A. (CoPI), Cunningham, K. A. K. A. (CoPI), Currie, M. G. M. G. (CoPI), Czarny, T. T. (CoPI), Dallaire, F. (CoPI), Davidge, S. T. (CoPI), Défossés, Y. (CoPI), Deliscar, S. S. (CoPI), Di Cara, F. F. (CoPI), Doan, Q. H. Q. H. (CoPI), Doherty-kirby, A. L. A. L. (CoPI), Dowling, J. J. (CoPI), Esser, M. J. M. J. (CoPI), De Soto Abdulrahin, Paola A, F. F. (CoPI), Gagnon, M. M. (CoPI), Gélinas, R. R. (CoPI), Greenberg, C. R. (CoPI), Heale, L. D. (CoPI), Hiraki, L. T. L. T. (CoPI), Kalashnikova, T. T. (CoPI), King, M. M. (CoPI), Klassen, A. F. (CoPI), Laxer, R. M. (CoPI), Lin, H. H. (CoPI), Li, P. T. P. T. (CoPI), Lochmüller, H. (CoPI), Mendonza, L. L. (CoPI), Micsinszki, S. S. (CoPI), Modi, B. P. B. P. (CoPI), Mosel, J. J. (CoPI), Osman, H. H. (CoPI), Piedboeuf, B. (CoPI), Rieder, M. J. M. (CoPI), Russell, K. E. K. E. (CoPI), Salami, B. O. B. O. (CoPI), Smith, M. M. M. M. (CoPI), Stratton, C. S. C. S. (CoPI), Syme, R. M. R. M. (CoPI), Thomas, M. A. M. A. (CoPI), Tsang, V. W. V. W. (CoPI), Tucker, L. B. (CoPI), Upton, J. J. (CoPI), Venkateswaran, S. S. (CoPI), Walia, J. S. (CoPI) & Yau, D. D. (CoPI)
10/1/23 → 9/30/28
Project: Research project
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An innovative registry-based trials platform to improve clinical care, outcomes, and health policy for children with treatable rare diseases
Binik, A. (PI), Chakraborty, P. (CoPI), Inbar-feigenberg, M. M. (CoPI), Mccabe, C. C. (CoPI), Mitchell, J. J. J. J. (CoPI), Offringa, M. M. (CoPI), Oskoui, M. (CoPI), Potter, E. K. E. K. (CoPI), Smith, M. M. M. M. (CoPI), Stockler, S. (CoPI), Adams, J. (CoPI), Andrews, S. (CoPI), Angel, K. (CoPI), Butcher, N. (CoPI), Campbell, C. G. N. C. G. N. (CoPI), Campeau, P. M. P. M. (CoPI), Chan, A. (CoPI), Clarke, L. A. (CoPI), Coyle, D. A. D. (CoPI), De Guise, M. (CoPI), Dowling, J. J. (CoPI), Dyack, S. J. (CoPI), Défossés, Y. (CoPI), El Turk, F. (CoPI), Fergusson, D. A. D. A. (CoPI), Gentle, J. (CoPI), Geraghty, M. T. (CoPI), Gonorazky, H. (CoPI), Goobie, S. L. (CoPI), Greenberg, C. R. (CoPI), Hayeems, R. (CoPI), Ho, G. (CoPI), Korngut, L. W. L. W. (CoPI), Kozenko, M. (CoPI), Laberge, A. M. (CoPI), Lacaze-masmonteil, T. T. (CoPI), Little, J. J. (CoPI), Mackenzie, A. E. (CoPI), MacKenzie, J. (CoPI), Mah, J. K. J. K. (CoPI), Mamak, E. E. (CoPI), Mcmillan, H. J. H. J. (CoPI), Mhanni, A. (CoPI), Pallone, N. (CoPI), Pender, A. (CoPI), Potter, M. (CoPI), Ratko, S. (CoPI), Round, J. J. (CoPI), Rupar, A. (CoPI), Ruth, C. A. (CoPI), Salvarinova, R. R. (CoPI), Schulze, A. (CoPI), Selby, K. A. (CoPI), Sondheimer, N. (CoPI), Sparkes, R. L. (CoPI), Speechley, K. N. (CoPI), Taljaard, M. M. (CoPI), Thavorn, K. K. (CoPI), Trakadis, Y. (CoPI), Turgeon Desilets, S. (CoPI), Vandersteen, A. A. (CoPI), Walia, J. S. (CoPI), Wilson, B. J. B. (CoPI), Wilson, K. K. (CoPI) & Boudreault, I. (CoPI)
Institute of Human Development, Child and Youth Health
4/1/20 → 3/31/24
Project: Research project
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An innovative registry-based trials platform to improve clinical care, outcomes, and health policy for children with treatable rare diseases
Potter, E. K. (PI), Mccabe, C. C. (CoPI), Smith, M. M. M. M. (CoPI), Binik, A. (CoPI), Chakraborty, P. (CoPI), Inbar-feigenberg, M. M. (CoPI), Mitchell, J. J. (CoPI), Offringa, M. M. (CoPI), Oskoui, M. (CoPI), Stockler, S. (CoPI), Adams, J. (CoPI), Angel, K. (CoPI), Boudreault, I. (CoPI), De Guise, M. (CoPI), Défossés, Y. (CoPI), Gentle, J. (CoPI), Pallone, N. (CoPI), Andrews, S. (CoPI), Campbell, C. G. N. (CoPI), Chan, A. (CoPI), Clarke, L. A. (CoPI), Coyle, D. A. D. (CoPI), Dowling, J. J. (CoPI), Dyack, S. J. (CoPI), El Turk, F. (CoPI), Fergusson, D. A. D. A. (CoPI), Geraghty, M. T. (CoPI), Goobie, S. L. (CoPI), Greenberg, C. R. (CoPI), Hayeems, R. (CoPI), Ho, G. (CoPI), Korngut, L. W. L. W. (CoPI), Kozenko, M. (CoPI), Laberge, A. M. (CoPI), Lacaze-masmonteil, T. T. (CoPI), Little, J. J. (CoPI), Mackenzie, A. E. (CoPI), MacKenzie, J. (CoPI), Mah, J. K. J. K. (CoPI), McMillan, H. J. (CoPI), Mhanni, A. (CoPI), Pender, A. (CoPI), Potter, M. (CoPI), Ratko, S. (CoPI), Rupar, A. (CoPI), Ruth, C. A. (CoPI), Salvarinova, R. R. (CoPI), Schulze, A. (CoPI), Selby, K. A. (CoPI), Sondheimer, N. (CoPI), Sparkes, R. L. (CoPI), Speechley, K. N. (CoPI), Taljaard, M. M. (CoPI), Thavorn, K. K. (CoPI), Trakadis, Y. (CoPI), Turgeon Desilets, S. (CoPI), Vandersteen, A. A. (CoPI), Walia, J. S. (CoPI), Wilson, B. J. B. (CoPI) & Wilson, K. K. (CoPI)
11/1/19 → 10/31/23
Project: Research project
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Designing interventions to improve delivery of health care for children with inherited metabolic diseases: family and provider perspectives
Chakraborty, P. (PI), Potter, E. K. (CoPI), Brehaut, J. C. J. (CoPI), Cohen, E. (CoPI), Dyack, S. J. (CoPI), Gillis, J. (CoPI), Greenberg, C. R. C. R. (CoPI), Grimshaw, J. M. J. M. (CoPI), Hayeems, R. (CoPI), Jolly, A. M. (CoPI), Jordan, I. (CoPI), Khangura, S. D. (CoPI), MacKenzie, J. (CoPI), Major, N. (CoPI), Mitchell, J. J. J. J. (CoPI), Nicholls, S. G. S. G. (CoPI), Pallone, N. (CoPI), Schulze, A. (CoPI), Smith, M. M. M. M. (CoPI), Sparkes, R. L. (CoPI), Speechley, K. N. (CoPI), Stockler, S. (CoPI), Teitelbaum, M. (CoPI), Trakadis, Y. (CoPI), Walia, J. S. (CoPI), Wilson, B. J. B. (CoPI), Wilson, K. K. (CoPI) & Van Karnebeek, C. D. (CoPI)
4/1/17 → 3/31/20
Project: Research project
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inklusiv.nachhaltig.mobil - Nachhaltige Mobilität in der Praxis - KR20NM0K18076
Potter, E. K. (PI), Chakraborty, P. (CoPI), Brehaut, J. C. J. (CoPI), Cohen, E. E. (CoPI), Dyack, S. J. (CoPI), Gillis, J. (CoPI), Greenberg, C. R. (CoPI), Grimshaw, J. M. J. M. (CoPI), Hayeems, R. (CoPI), Jolly, A. M. (CoPI), Jordan, I. (CoPI), Khangura, S. D. (CoPI), MacKenzie, J. (CoPI), Major, N. (CoPI), Mitchell, J. J. (CoPI), Nicholls, S. G. S. G. (CoPI), Pallone, N. (CoPI), Schulze, A. (CoPI), Smith, M. M. M. M. (CoPI), Sparkes, R. L. (CoPI), Speechley, K. N. (CoPI), Stockler, S. (CoPI), Teitelbaum, M. (CoPI), Trakadis, Y. (CoPI), van Karnebeek, C. (CoPI), Walia, J. S. (CoPI), Wilson, B. J. B. (CoPI) & Wilson, K. K. (CoPI)
10/1/16 → 11/28/21
Project: Research project
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An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome
Choufani, S., McNiven, V., Cytrynbaum, C., Jangjoo, M., Adam, M. P., Bjornsson, H. T., Harris, J., Dyment, D. A., Graham, G. E., Nezarati, M. M., Aul, R. B., Castiglioni, C., Breckpot, J., Devriendt, K., Stewart, H., Banos-Pinero, B., Mehta, S., Sandford, R., Dunn, C., Mathevet, R., & 42 others, Oct 6 2022, In: American Journal of Human Genetics. 109, 10, p. 1867-1884 18 p.Research output: Contribution to journal › Article › peer-review
Open Access18 Citations (Scopus) -
Families' healthcare experiences for children with inherited metabolic diseases: Protocol for a mixed methods cohort study
Chow, A. J., Iverson, R., Lamoureux, M., Tingley, K., Jordan, I., Pallone, N., Smith, M., Al-Baldawi, Z., Chakraborty, P., Brehaut, J., Chan, A., Cohen, E., Dyack, S., Gillis, L. J., Goobie, S., Graham, I. D., Greenberg, C. R., Grimshaw, J. M., Hayeems, R. Z., Jain-Ghai, S., & 23 others, Feb 22 2022, In: BMJ Open. 12, 2, e055664.Research output: Contribution to journal › Article › peer-review
Open Access1 Citation (Scopus) -
Increased intracranial pressure in a patient with Congenital Heart Defect and Ectodermal Dysplasia (CHDED): Extension of phenotype and review of literature
Alghaith, F. A., Arts, H. H., Plourde, F. J., Boswall, A., Gulati, P., McNeely, P. D., Acott, P. D., Wong, K. K. & Dyack, S., 2022, (Accepted/In press) In: American Journal of Medical Genetics, Part A.Research output: Contribution to journal › Article › peer-review
3 Citations (Scopus) -
Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder
Genomics England Research Consortium & Care4Rare Canada Consortium, Jun 3 2021, In: American Journal of Human Genetics. 108, 6, p. 1069-1082 14 p.Research output: Contribution to journal › Article › peer-review
Open Access11 Citations (Scopus) -
Core outcome sets for medium-chain Acyl-CoA Dehydrogenase deficiency and phenylketonuria
Canadian Inherited Metabolic Diseases Research Network, Aug 1 2021, In: Pediatrics. 148, 2, e2020037747.Research output: Contribution to journal › Article › peer-review
21 Citations (Scopus)