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Telehealth for rare disease care, research, and education across the globe: A review of the literature by the IRDiRC telehealth task force.
Chen FH, Hartman AL, Letinturier MCV, Antoniadou V, Baynam G, Bloom L, Crimi M, Della Rocca MG, Didato G, Houge SD, Jonker A, Kawome M, Mueller F, O'Brien J, Puri RD, Ryan N, Thong MK, Tumienė B, Parisi MA. Chen FH, et al. Among authors: letinturier mcv. Eur J Med Genet. 2024 Dec;72:104977. doi: 10.1016/j.ejmg.2024.104977. Epub 2024 Oct 5. Eur J Med Genet. 2024. PMID: 39374775 Free article. Review.
Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases.
van Karnebeek CDM, O'Donnell-Luria A, Baynam G, Baudot A, Groza T, Jans JJM, Lassmann T, Letinturier MCV, Montgomery SB, Robinson PN, Sansen S, Mehrian-Shai R, Steward C, Kosaki K, Durao P, Sadikovic B. van Karnebeek CDM, et al. Among authors: letinturier mcv. Orphanet J Rare Dis. 2024 Sep 27;19(1):357. doi: 10.1186/s13023-024-03361-0. Orphanet J Rare Dis. 2024. PMID: 39334316 Free PMC article. Review.
Global health for rare diseases through primary care.
Baynam G, Hartman AL, Letinturier MCV, Bolz-Johnson M, Carrion P, Grady AC, Dong X, Dooms M, Dreyer L, Graessner H, Granados A, Groza T, Houwink E, Jamuar SS, Vasquez-Loarte T, Tumiene B, Wiafe SA, Bjornson-Pennell H, Groft S. Baynam G, et al. Among authors: letinturier mcv. Lancet Glob Health. 2024 Jul;12(7):e1192-e1199. doi: 10.1016/S2214-109X(24)00134-7. Lancet Glob Health. 2024. PMID: 38876765 Free article.
Advancing diagnosis and research for rare genetic diseases in Indigenous peoples.
Baynam G, Julkowska D, Bowdin S, Hermes A, McMaster CR, Prichep E, Richer É, van der Westhuizen FH, Repetto GM, Malherbe H, Reichardt JKV, Arbour L, Hudson M, du Plessis K, Haendel M, Wilcox P, Lynch SA, Rind S, Easteal S, Estivill X, Caron N, Chongo M, Thomas Y, Letinturier MCV, Vorster BC. Baynam G, et al. Among authors: letinturier mcv. Nat Genet. 2024 Feb;56(2):189-193. doi: 10.1038/s41588-023-01642-1. Nat Genet. 2024. PMID: 38332370 Free PMC article.
The IRDiRC Chrysalis Task Force: making rare disease research attractive to companies.
Beaverson KL, Julkowska D, Letinturier MCV, Aartsma-Rus A, Austin J, Bueren J, Frost S, Hamamura M, Larkindale J, LaRosa G, Magenheim R, Merico A, Pasmooij AMG, Pirard V, Ekow Thomford N, Wada M, Wong-Rieger D, Hartman AL. Beaverson KL, et al. Among authors: letinturier mcv. Ther Adv Rare Dis. 2023 Jul 29;4:26330040231188979. doi: 10.1177/26330040231188979. eCollection 2023 Jan-Dec. Ther Adv Rare Dis. 2023. PMID: 37529076 Free PMC article.