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Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases.
Wang CM, Whiting AH, Rath A, Anido R, Ardigò D, Baynam G, Dawkins H, Hamosh A, Le Cam Y, Malherbe H, Molster CM, Monaco L, Padilla CD, Pariser AR, Robinson PN, Rodwell C, Schaefer F, Weber S, Macchia F. Wang CM, et al. Among authors: le cam y. Orphanet J Rare Dis. 2024 Sep 11;19(1):334. doi: 10.1186/s13023-024-03322-7. Orphanet J Rare Dis. 2024. PMID: 39261914 Free PMC article.
Progress in Rare Diseases Research 2010-2016: An IRDiRC Perspective.
Dawkins HJS, Draghia-Akli R, Lasko P, Lau LPL, Jonker AH, Cutillo CM, Rath A, Boycott KM, Baynam G, Lochmüller H, Kaufmann P, Le Cam Y, Hivert V, Austin CP; International Rare Diseases Research Consortium (IRDiRC). Dawkins HJS, et al. Among authors: le cam y. Clin Transl Sci. 2018 Jan;11(1):11-20. doi: 10.1111/cts.12501. Epub 2017 Oct 23. Clin Transl Sci. 2018. PMID: 28796411 Free PMC article. Review. No abstract available.
The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact.
Lochmüller H, Torrent I Farnell J, Le Cam Y, Jonker AH, Lau LP, Baynam G, Kaufmann P, Dawkins HJ, Lasko P, Austin CP, Boycott KM; IRDiRC Consortium Assembly. Lochmüller H, et al. Among authors: le cam y. Eur J Hum Genet. 2017 Dec;25(12):1293-1302. doi: 10.1038/s41431-017-0008-z. Epub 2017 Nov 20. Eur J Hum Genet. 2017. PMID: 29158551 Free PMC article.
Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.
Baynam G, Bowman F, Lister K, Walker CE, Pachter N, Goldblatt J, Boycott KM, Gahl WA, Kosaki K, Adachi T, Ishii K, Mahede T, McKenzie F, Townshend S, Slee J, Kiraly-Borri C, Vasudevan A, Hawkins A, Broley S, Schofield L, Verhoef H, Groza T, Zankl A, Robinson PN, Haendel M, Brudno M, Mattick JS, Dinger ME, Roscioli T, Cowley MJ, Olry A, Hanauer M, Alkuraya FS, Taruscio D, Posada de la Paz M, Lochmüller H, Bushby K, Thompson R, Hedley V, Lasko P, Mina K, Beilby J, Tifft C, Davis M, Laing NG, Julkowska D, Le Cam Y, Terry SF, Kaufmann P, Eerola I, Norstedt I, Rath A, Suematsu M, Groft SC, Austin CP, Draghia-Akli R, Weeramanthri TS, Molster C, Dawkins HJS. Baynam G, et al. Among authors: le cam y. Adv Exp Med Biol. 2017;1031:55-94. doi: 10.1007/978-3-319-67144-4_4. Adv Exp Med Biol. 2017. PMID: 29214566 Review.
Reply to E. Vicente et al.
Rath A, Lambert DM, Olry A, Rodwell C, Le Cam Y. Rath A, et al. Among authors: le cam y. Eur J Hum Genet. 2021 Jun;29(6):1034-1035. doi: 10.1038/s41431-020-00764-y. Epub 2020 Dec 1. Eur J Hum Genet. 2021. PMID: 33262444 Free PMC article. No abstract available.
Recommendations from the European Working Group for Value Assessment and Funding Processes in Rare Diseases (ORPH-VAL).
Annemans L, Aymé S, Le Cam Y, Facey K, Gunther P, Nicod E, Reni M, Roux JL, Schlander M, Taylor D, Tomino C, Torrent-Farnell J, Upadhyaya S, Hutchings A, Le Dez L. Annemans L, et al. Among authors: le cam y, le dez l. Orphanet J Rare Dis. 2017 Mar 10;12(1):50. doi: 10.1186/s13023-017-0601-9. Orphanet J Rare Dis. 2017. PMID: 28283046 Free PMC article.
Patients, payers and developers of Orphan Medicinal Products: lessons learned from 10 years' multi-stakeholder dialogue on improving access in Europe via MoCA.
Cavaller-Bellaubi M, Hughes-Wilson W, Kubinová Š, Van de Casteele M, Van Lente EJ, Degortes E, Pontén J, Eichler HG, Le Cam Y, Boselli S, Bucsics A. Cavaller-Bellaubi M, et al. Among authors: le cam y. Orphanet J Rare Dis. 2023 Jun 12;18(1):144. doi: 10.1186/s13023-023-02774-7. Orphanet J Rare Dis. 2023. PMID: 37308991 Free PMC article.
28 results