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Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.
Hartley T, Soubry É, Acker M, Osmond M, Couse M, Gillespie MK, Ito Y, Marshall AE, Lemire G, Huang L, Chisholm C, Eaton AJ, Price EM, Dowling JJ, Ramani AK, Mendoza-Londono R, Costain G, Axford MM, Szuto A, McNiven V, Damseh N, Jobling R, de Kock L, Mojarad BA, Young T, Shao Z, Hayeems RZ, Graham ID, Tarnopolsky M, Brady L, Armour CM, Geraghty M, Richer J, Sawyer S, Lines M, Mercimek-Andrews S, Carter MT, Graham G, Kannu P, Lazier J, Li C, Aul RB, Balci TB, Dlamini N, Badalato L, Guerin A, Walia J, Chitayat D, Cohn R, Faghfoury H, Forster-Gibson C, Gonorazky H, Grunebaum E, Inbar-Feigenberg M, Karp N, Morel C, Rusnak A, Sondheimer N, Warman-Chardon J, Bhola PT, Bourque DK, Chacon IJ, Chad L, Chakraborty P, Chong K, Doja A, Goh ES, Saleh M; Care4Rare Canada; Potter BK, Marshall CR, Dyment DA, Kernohan K, Boycott KM. Hartley T, et al. Among authors: potter bk. Clin Genet. 2023 Mar;103(3):288-300. doi: 10.1111/cge.14262. Epub 2022 Nov 29. Clin Genet. 2023. PMID: 36353900
Metabolic Clinic Atlas: Organization of Care for Children with Inherited Metabolic Disease in Canada.
Lamoureux MF, Tingley K, Kronick JB, Potter BK, Chan AK, Coyle D, Dodds L, Dyack S, Feigenbaum A, Geraghty M, 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; Canadian Inherited Metabolic Diseases Research Network. Lamoureux MF, et al. Among authors: potter m, potter bk. JIMD Rep. 2015;21:15-22. doi: 10.1007/8904_2014_347. Epub 2015 Feb 26. JIMD Rep. 2015. PMID: 25716610 Free PMC article.
Accurate prediction of gestational age using newborn screening analyte data.
Wilson K, Hawken S, Potter BK, Chakraborty P, Walker M, Ducharme R, Little J. Wilson K, et al. Among authors: potter bk. Am J Obstet Gynecol. 2016 Apr;214(4):513.e1-513.e9. doi: 10.1016/j.ajog.2015.10.017. Epub 2015 Oct 28. Am J Obstet Gynecol. 2016. PMID: 26519781 Free article.
Consent for newborn screening: parents' and health-care professionals' experiences of consent in practice.
Etchegary H, Nicholls SG, Tessier L, Simmonds C, Potter BK, Brehaut JC, Pullman D, Hayeems R, Zelenietz S, Lamoureux M, Milburn J, Turner L, Chakraborty P, Wilson B. Etchegary H, et al. Among authors: potter bk. Eur J Hum Genet. 2016 Nov;24(11):1530-1534. doi: 10.1038/ejhg.2016.55. Epub 2016 Jun 15. Eur J Hum Genet. 2016. PMID: 27302842 Free PMC article.
414 results