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Using a meta-narrative literature review and focus groups with key stakeholders to identify perceived challenges and solutions for generating robust evidence on the effectiveness of treatments for rare diseases.
Tingley K, Coyle D, Graham ID, Sikora L, Chakraborty P, Wilson K, Mitchell JJ, Stockler-Ipsiroglu S, Potter BK; Canadian Inherited Metabolic Diseases Research Network. Tingley K, et al. Orphanet J Rare Dis. 2018 Jun 28;13(1):104. doi: 10.1186/s13023-018-0851-1. Orphanet J Rare Dis. 2018. PMID: 29954425 Free PMC article. Review.
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 K, Lamoureux M, Pugliese M, Geraghty MT, Kronick JB, Potter BK, Coyle D, Wilson K, Kowalski M, Austin V, Brunel-Guitton C, Buhas D, Chan AKJ, Dyack S, Feigenbaum A, Giezen A, Goobie S, Greenberg CR, Ghai SJ, Inbar-Feigenberg M, Karp N, Kozenko M, Langley E, Lines M, Little J, MacKenzie J, Maranda B, Mercimek-Andrews S, Mohan C, Mhanni A, Mitchell G, Mitchell JJ, Nagy L, Napier M, Pender A, Potter M, Prasad C, Ratko S, Salvarinova R, Schulze A, Siriwardena K, Sondheimer N, Sparkes R, Stockler-Ipsiroglu S, Trakadis Y, Turner L, Van Karnebeek C, Vallance H, Vandersteen A, Walia J, Wilson A, Wilson BJ, Yu AC, Yuskiv N, Chakraborty P; Canadian Inherited Metabolic Diseases Research Network. Tingley K, et al. Orphanet J Rare Dis. 2020 Apr 10;15(1):89. doi: 10.1186/s13023-020-01358-z. Orphanet J Rare Dis. 2020. PMID: 32276663 Free PMC article.
The genotypic and phenotypic spectrum of PIGA deficiency.
Tarailo-Graovac M, Sinclair G, Stockler-Ipsiroglu S, Van Allen M, Rozmus J, Shyr C, Biancheri R, Oh T, Sayson B, Lafek M, Ross CJ, Robinson WP, Wasserman WW, Rossi A, van Karnebeek CD. Tarailo-Graovac M, et al. Orphanet J Rare Dis. 2015 Feb 27;10:23. doi: 10.1186/s13023-015-0243-8. Orphanet J Rare Dis. 2015. PMID: 25885527 Free PMC article.
Toward the diagnosis of rare childhood genetic diseases: what do parents value most?
Pollard S, Weymann D, Dunne J, Mayanloo F, Buckell J, Buchanan J, Wordsworth S, Friedman JM, Stockler-Ipsiroglu S, Dragojlovic N, Elliott AM, Harrison M, Lynd LD, Regier DA. Pollard S, et al. Eur J Hum Genet. 2021 Oct;29(10):1491-1501. doi: 10.1038/s41431-021-00882-1. Epub 2021 Apr 26. Eur J Hum Genet. 2021. PMID: 33903739 Free PMC article.
Establishing a Core Outcome Set for Creatine Transporter Deficiency and Guanidinoacetate Methyltransferase Deficiency.
Nasseri Moghaddam Z, Reinhardt EK, Thurm A, Potter BK, Smith M, Graham C, Tiller BH, Baker SA, Bilder DA, Bogar R, Britz J, Cafferty R, Coller DP, DeGrauw TJ, Hall V, Lipshutz GS, Longo N, Mercimek-Andrews S, Miller JS, Pasquali M, Salomons GS, Schulze A, Wheaton CP, Williams KF, Young SP, Li J, Balog S, Selucky T, Stockler-Ipsiroglu S, Wallis H. Nasseri Moghaddam Z, et al. Among authors: stockler ipsiroglu s. medRxiv [Preprint]. 2024 Sep 10:2024.09.06.24313213. doi: 10.1101/2024.09.06.24313213. medRxiv. 2024. PMID: 39371127 Free PMC article. Preprint.
124 results