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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: lasko p. 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.
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: lasko p. 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.
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. Among authors: lasko p. 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.
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: lasko p. 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 Undiagnosed Diseases Network International: Five years and more!
Taruscio D, Baynam G, Cederroth H, Groft SC, Klee EW, Kosaki K, Lasko P, Melegh B, Riess O, Salvatore M, Gahl WA. Taruscio D, et al. Among authors: lasko p. Mol Genet Metab. 2020 Apr;129(4):243-254. doi: 10.1016/j.ymgme.2020.01.004. Epub 2020 Jan 17. Mol Genet Metab. 2020. PMID: 32033911
Global implementation of genomic medicine: We are not alone.
Manolio TA, Abramowicz M, Al-Mulla F, Anderson W, Balling R, Berger AC, Bleyl S, Chakravarti A, Chantratita W, Chisholm RL, Dissanayake VH, Dunn M, Dzau VJ, Han BG, Hubbard T, Kolbe A, Korf B, Kubo M, Lasko P, Leego E, Mahasirimongkol S, Majumdar PP, Matthijs G, McLeod HL, Metspalu A, Meulien P, Miyano S, Naparstek Y, O'Rourke PP, Patrinos GP, Rehm HL, Relling MV, Rennert G, Rodriguez LL, Roden DM, Shuldiner AR, Sinha S, Tan P, Ulfendahl M, Ward R, Williams MS, Wong JE, Green ED, Ginsburg GS. Manolio TA, et al. Among authors: lasko p. Sci Transl Med. 2015 Jun 3;7(290):290ps13. doi: 10.1126/scitranslmed.aab0194. Sci Transl Med. 2015. PMID: 26041702 Free PMC article. Review.
Human genome meeting 2016 : Houston, TX, USA. 28 February - 2 March 2016.
Srivastava AK, Wang Y, Huang R, Skinner C, Thompson T, Pollard L, Wood T, Luo F, Stevenson R, Polimanti R, Gelernter J, Lin X, Lim IY, Wu Y, Teh AL, Chen L, Aris IM, Soh SE, Tint MT, MacIsaac JL, Yap F, Kwek K, Saw SM, Kobor MS, Meaney MJ, Godfrey KM, Chong YS, Holbrook JD, Lee YS, Gluckman PD, Karnani N; GUSTO study group; Kapoor A, Lee D, Chakravarti A, Maercker C, Graf F, Boutros M, Stamoulis G, Santoni F, Makrythanasis P, Letourneau A, Guipponi M, Panousis N, Garieri M, Ribaux P, Falconnet E, Borel C, Antonarakis SE, Kumar S, Curran J, Blangero J, Chatterjee S, Kapoor A, Akiyama J, Auer D, Berrios C, Pennacchio L, Chakravarti A, Donti TR, Cappuccio G, Miller M, Atwal P, Kennedy A, Cardon A, Bacino C, Emrick L, Hertecant J, Baumer F, Porter B, Bainbridge M, Bonnen P, Graham B, Sutton R, Sun Q, Elsea S, Hu Z, Wang P, Zhu Y, Zhao J, Xiong M, Bennett DA, Hidalgo-Miranda A, Romero-Cordoba S, Rodriguez-Cuevas S, Rebollar-Vega R, Tagliabue E, Iorio M, D’Ippolito E, Baroni S, Kaczkowski B, Tanaka Y, Kawaji H, Sandelin A, Andersson R, Itoh M, Lassmann T; The FANTOM5 Consortium; Hayashizaki Y, Carninci P, Forrest ARR, Semple CA, Rosenthal EA, Shirts B, Amendola L, Gallego C, Horike-Pyne… See abstract for full author list ➔ Srivastava AK, et al. Among authors: lasko p. Hum Genomics. 2016 May 26;10 Suppl 1(Suppl 1):12. doi: 10.1186/s40246-016-0063-5. Hum Genomics. 2016. PMID: 27294413 Free PMC article.
Rosenthal, B. Shirts, L. Amendola, C. Gallego, M. Horike-Pyne, A. Burt, P. Robertson, P. Beyers, C. Nefcy, D. Veenstra, F. Hisama, R. Bennett, M. ...J. Mulvihill, G. Baynam, W. Gahl, S. C. Groft, K. Kosaki, P. Lasko, B. Melegh, D. Taruscio O36 Performa …
Rosenthal, B. Shirts, L. Amendola, C. Gallego, M. Horike-Pyne, A. Burt, P. Robertson, P. Beyers, C. Nefcy, D. Veenstra, F. His …
143 results