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Planning the human variome project: the Spain report.
Kaput J, Cotton RG, Hardman L, Watson M, Al Aqeel AI, Al-Aama JY, Al-Mulla F, Alonso S, Aretz S, Auerbach AD, Bapat B, Bernstein IT, Bhak J, Bleoo SL, Blöcker H, Brenner SE, Burn J, Bustamante M, Calzone R, Cambon-Thomsen A, Cargill M, Carrera P, Cavedon L, Cho YS, Chung YJ, Claustres M, Cutting G, Dalgleish R, den Dunnen JT, Díaz C, Dobrowolski S, dos Santos MR, Ekong R, Flanagan SB, Flicek P, Furukawa Y, Genuardi M, Ghang H, Golubenko MV, Greenblatt MS, Hamosh A, Hancock JM, Hardison R, Harrison TM, Hoffmann R, Horaitis R, Howard HJ, Barash CI, Izagirre N, Jung J, Kojima T, Laradi S, Lee YS, Lee JY, Gil-da-Silva-Lopes VL, Macrae FA, Maglott D, Marafie MJ, Marsh SG, Matsubara Y, Messiaen LM, Möslein G, Netea MG, Norton ML, Oefner PJ, Oetting WS, O'Leary JC, de Ramirez AM, Paalman MH, Parboosingh J, Patrinos GP, Perozzi G, Phillips IR, Povey S, Prasad S, Qi M, Quin DJ, Ramesar RS, Richards CS, Savige J, Scheible DG, Scott RJ, Seminara D, Shephard EA, Sijmons RH, Smith TD, Sobrido MJ, Tanaka T, Tavtigian SV, Taylor GR, Teague J, Töpel T, Ullman-Cullere M, Utsunomiya J, van Kranen HJ, Vihinen M, Webb E, Weber TK, Yeager M, Yeom YI, Yim SH, Yoo HS; Contributors to the Human Va… See abstract for full author list ➔ Kaput J, et al. Among authors: phillips ir. Hum Mutat. 2009 Apr;30(4):496-510. doi: 10.1002/humu.20972. Hum Mutat. 2009. PMID: 19306394 Free PMC article.
Trimethylaminuria and a human FMO3 mutation database.
Hernandez D, Addou S, Lee D, Orengo C, Shephard EA, Phillips IR. Hernandez D, et al. Among authors: phillips ir. Hum Mutat. 2003 Sep;22(3):209-13. doi: 10.1002/humu.10252. Hum Mutat. 2003. PMID: 12938085 Review.
Clinical utility gene card for: trimethylaminuria.
Shephard EA, Treacy EP, Phillips IR. Shephard EA, et al. Among authors: phillips ir. Eur J Hum Genet. 2012 Mar;20(3). doi: 10.1038/ejhg.2011.214. Epub 2011 Nov 30. Eur J Hum Genet. 2012. PMID: 22126753 Free PMC article. No abstract available.
Clinical utility gene card for: Trimethylaminuria - update 2014.
Shephard EA, Treacy EP, Phillips IR. Shephard EA, et al. Among authors: phillips ir. Eur J Hum Genet. 2015 Sep;23(9). doi: 10.1038/ejhg.2014.226. Epub 2014 Oct 22. Eur J Hum Genet. 2015. PMID: 25335494 Free PMC article. No abstract available.
460 results