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The case for open science: rare diseases.
Rubinstein YR, Robinson PN, Gahl WA, Avillach P, Baynam G, Cederroth H, Goodwin RM, Groft SC, Hansson MG, Harris NL, Huser V, Mascalzoni D, McMurry JA, Might M, Nellaker C, Mons B, Paltoo DN, Pevsner J, Posada M, Rockett-Frase AP, Roos M, Rubinstein TB, Taruscio D, van Enckevort E, Haendel MA. Rubinstein YR, et al. Among authors: groft sc. JAMIA Open. 2020 Sep 11;3(3):472-486. doi: 10.1093/jamiaopen/ooaa030. eCollection 2020 Oct. JAMIA Open. 2020. PMID: 33426479 Free PMC article. Review.
Creating a global rare disease patient registry linked to a rare diseases biorepository database: Rare Disease-HUB (RD-HUB).
Rubinstein YR, Groft SC, Bartek R, Brown K, Christensen RA, Collier E, Farber A, Farmer J, Ferguson JH, Forrest CB, Lockhart NC, McCurdy KR, Moore H, Pollen GB, Richesson R, Miller VR, Hull S, Vaught J. Rubinstein YR, et al. Among authors: groft sc. Contemp Clin Trials. 2010 Sep;31(5):394-404. doi: 10.1016/j.cct.2010.06.007. Epub 2010 Jul 8. Contemp Clin Trials. 2010. PMID: 20609392 Free PMC article.
The case for a global rare-diseases registry.
Forrest CB, Bartek RJ, Rubinstein Y, Groft SC. Forrest CB, et al. Among authors: groft sc. Lancet. 2011 Mar 26;377(9771):1057-9. doi: 10.1016/S0140-6736(10)60680-0. Epub 2010 Jul 30. Lancet. 2011. PMID: 20674966 No abstract available.
Informed consent process for patient participation in rare disease registries linked to biorepositories.
Rubinstein YR, Groft SC, Chandros SH, Kaneshiro J, Karp B, Lockhart NC, Marshall PA, Moxley RT 3rd, Pollen GB, Miller VR, Schwartz J. Rubinstein YR, et al. Among authors: groft sc. Contemp Clin Trials. 2012 Jan;33(1):5-11. doi: 10.1016/j.cct.2011.10.004. Epub 2011 Oct 24. Contemp Clin Trials. 2012. PMID: 22036955 Free PMC article. Review. No abstract available.
The need for worldwide policy and action plans for rare diseases.
Forman J, Taruscio D, Llera VA, Barrera LA, Coté TR, Edfjäll C, Gavhed D, Haffner ME, Nishimura Y, Posada M, Tambuyzer E, Groft SC, Henter JI; International Conference for Rare Diseases and Orphan Drugs (ICORD). Forman J, et al. Among authors: groft sc. Acta Paediatr. 2012 Aug;101(8):805-7. doi: 10.1111/j.1651-2227.2012.02705.x. Epub 2012 May 11. Acta Paediatr. 2012. PMID: 22519914 Free PMC article.
Initiating an undiagnosed diseases program in the Western Australian public health system.
Baynam G, Broley S, Bauskis A, Pachter N, McKenzie F, Townshend S, Slee J, Kiraly-Borri C, Vasudevan A, Hawkins A, Schofield L, Helmholz P, Palmer R, Kung S, Walker CE, Molster C, Lewis B, Mina K, Beilby J, Pathak G, Poulton C, Groza T, Zankl A, Roscioli T, Dinger ME, Mattick JS, Gahl W, Groft S, Tifft C, Taruscio D, Lasko P, Kosaki K, Wilhelm H, Melegh B, Carapetis J, Jana S, Chaney G, Johns A, Owen PW, Daly F, Weeramanthri T, Dawkins H, Goldblatt J. Baynam G, et al. Orphanet J Rare Dis. 2017 May 3;12(1):83. doi: 10.1186/s13023-017-0619-z. Orphanet J Rare Dis. 2017. PMID: 28468665 Free PMC article.
51 results