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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 3
2004 3
2006 2
2007 6
2008 3
2009 1
2010 3
2011 1
2012 5
2013 3
2014 6
2015 11
2016 6
2017 10
2018 9
2019 4
2020 6
2021 13
2022 0
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81 results
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Page 1
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts.
Frésard L, Smail C, Ferraro NM, Teran NA, Li X, Smith KS, Bonner D, Kernohan KD, Marwaha S, Zappala Z, Balliu B, Davis JR, Liu B, Prybol CJ, Kohler JN, Zastrow DB, Reuter CM, Fisk DG, Grove ME, Davidson JM, Hartley T, Joshi R, Strober BJ, Utiramerur S; Undiagnosed Diseases Network; Care4Rare Canada Consortium, Lind L, Ingelsson E, Battle A, Bejerano G, Bernstein JA, Ashley EA, Boycott KM, Merker JD, Wheeler MT, Montgomery SB. Frésard L, et al. Nat Med. 2019 Jun;25(6):911-919. doi: 10.1038/s41591-019-0457-8. Epub 2019 Jun 3. Nat Med. 2019. PMID: 31160820 Free PMC article.
Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review.
Pugliese M, Tingley K, Chow A, Pallone N, Smith M, Rahman A, Chakraborty P, Geraghty MT, Irwin J, Tessier L, Nicholls SG, Offringa M, Butcher NJ, Iverson R, Clifford TJ, Stockler S, Hutton B, Paik K, Tao J, Skidmore B, Coyle D, Duddy K, Dyack S, Greenberg CR, Ghai SJ, Karp N, Korngut L, Kronick J, MacKenzie A, MacKenzie J, Maranda B, Mitchell JJ, Potter M, Prasad C, Schulze A, Sparkes R, Taljaard M, Trakadis Y, Walia J, Potter BK; Canadian Inherited Metabolic Diseases Research Network. Pugliese M, et al. Among authors: mackenzie a. Orphanet J Rare Dis. 2020 Jan 14;15(1):12. doi: 10.1186/s13023-019-1276-1. Orphanet J Rare Dis. 2020. PMID: 31937333 Free PMC article. Review.
Quantitative analysis of SARS-CoV-2 RNA from wastewater solids in communities with low COVID-19 incidence and prevalence.
D'Aoust PM, Mercier E, Montpetit D, Jia JJ, Alexandrov I, Neault N, Baig AT, Mayne J, Zhang X, Alain T, Langlois MA, Servos MR, MacKenzie M, Figeys D, MacKenzie AE, Graber TE, Delatolla R. D'Aoust PM, et al. Among authors: mackenzie ae. Water Res. 2021 Jan 1;188:116560. doi: 10.1016/j.watres.2020.116560. Epub 2020 Oct 23. Water Res. 2021. PMID: 33137526 Free PMC article.
Carrier testing for spinal muscular atrophy.
Gitlin JM, Fischbeck K, Crawford TO, Cwik V, Fleischman A, Gonye K, Heine D, Hobby K, Kaufmann P, Keiles S, MacKenzie A, Musci T, Prior T, Lloyd-Puryear M, Sugarman EA, Terry SF, Urv T, Wang C, Watson M, Yaron Y, Frosst P, Howell RR. Gitlin JM, et al. Among authors: mackenzie a. Genet Med. 2010 Oct;12(10):621-2. doi: 10.1097/GIM.0b013e3181ef6079. Genet Med. 2010. PMID: 20808230 Free PMC article.
Current and emerging treatment options for spinal muscular atrophy.
Farooq F, MacKenzie AE. Farooq F, et al. Among authors: mackenzie ae. Degener Neurol Neuromuscul Dis. 2015 Jul 17;5:75-81. doi: 10.2147/DNND.S48420. eCollection 2015. Degener Neurol Neuromuscul Dis. 2015. PMID: 32669914 Free PMC article. Review.
Core Outcome Sets for Medium-Chain Acyl-CoA Dehydrogenase Deficiency and Phenylketonuria.
Pugliese M, Tingley K, Chow A, Pallone N, Smith M, Chakraborty P, Geraghty MT, Irwin JK, Mitchell JJ, Stockler S, Nicholls SG, Offringa M, Rahman A, Tessier LA, Butcher NJ, Iverson R, Lamoureux M, Clifford TJ, Hutton B, Paik K, Tao J, Skidmore B, Coyle D, Duddy K, Dyack S, Greenberg CR, Jain Ghai S, Karp N, Korngut L, Kronick J, MacKenzie A, MacKenzie J, Maranda B, Potter M, Prasad C, Schulze A, Sparkes R, Taljaard M, Trakadis Y, Walia J, Potter BK; Canadian Inherited Metabolic Diseases Research Network. Pugliese M, et al. Among authors: mackenzie a. Pediatrics. 2021 Aug;148(2):e2020037747. doi: 10.1542/peds.2020-037747. Epub 2021 Jul 15. Pediatrics. 2021. PMID: 34266901
A generalizable pre-clinical research approach for orphan disease therapy.
Beaulieu CL, Samuels ME, Ekins S, McMaster CR, Edwards AM, Krainer AR, Hicks GG, Frey BJ, Boycott KM, Mackenzie AE. Beaulieu CL, et al. Among authors: mackenzie ae. Orphanet J Rare Dis. 2012 Jun 15;7:39. doi: 10.1186/1750-1172-7-39. Orphanet J Rare Dis. 2012. PMID: 22704758 Free PMC article. Review.
DLG4-related synaptopathy: a new rare brain disorder.
Rodríguez-Palmero A, Boerrigter MM, Gómez-Andrés D, Aldinger KA, Marcos-Alcalde Í, Popp B, Everman DB, Lovgren AK, Arpin S, Bahrambeigi V, Beunders G, Bisgaard AM, Bjerregaard VA, Bruel AL, Challman TD, Cogné B, Coubes C, de Man SA, Denommé-Pichon AS, Dye TJ, Elmslie F, Feuk L, García-Miñaúr S, Gertler T, Giorgio E, Gruchy N, Haack TB, Haldeman-Englert CR, Haukanes BI, Hoyer J, Hurst ACE, Isidor B, Soller MJ, Kushary S, Kvarnung M, Landau YE, Leppig KA, Lindstrand A, Kleinendorst L, MacKenzie A, Mandrile G, Mendelsohn BA, Moghadasi S, Morton JE, Moutton S, Müller AJ, O'Leary M, Pacio-Míguez M, Palomares-Bralo M, Parikh S, Pfundt R, Pode-Shakked B, Rauch A, Repnikova E, Revah-Politi A, Ross MJ, Ruivenkamp CAL, Sarrazin E, Savatt JM, Schlüter A, Schönewolf-Greulich B, Shad Z, Shaw-Smith C, Shieh JT, Shohat M, Spranger S, Thiese H, Mau-Them FT, van Bon B, van de Burgt I, van de Laar IMBH, van Drie E, van Haelst MM, van Ravenswaaij-Arts CM, Verdura E, Vitobello A, Waldmüller S, Whiting S, Zweier C, Prada CE, de Vries BBA, Dobyns WB, Reiter SF, Gómez-Puertas P, Pujol A, Tümer Z. Rodríguez-Palmero A, et al. Among authors: mackenzie a. Genet Med. 2021 May;23(5):888-899. doi: 10.1038/s41436-020-01075-9. Epub 2021 Feb 17. Genet Med. 2021. PMID: 33597769
81 results