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Page 1
ABCB6 mutations cause ocular coloboma.
Wang L, He F, Bu J, Zhen Y, Liu X, Du W, Dong J, Cooney JD, Dubey SK, Shi Y, Gong B, Li J, McBride PF, Jia Y, Lu F, Soltis KA, Lin Y, Namburi P, Liang C, Sundaresan P, Paw BH, Li W, Li DY, Phillips JD, Yang Z. Wang L, et al. Among authors: cooney jd. Am J Hum Genet. 2012 Jan 13;90(1):40-8. doi: 10.1016/j.ajhg.2011.11.026. Epub 2012 Jan 5. Am J Hum Genet. 2012. PMID: 22226084 Free PMC article.
Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4.
Hildick-Smith GJ, Cooney JD, Garone C, Kremer LS, Haack TB, Thon JN, Miyata N, Lieber DS, Calvo SE, Akman HO, Yien YY, Huston NC, Branco DS, Shah DI, Freedman ML, Koehler CM, Italiano JE Jr, Merkenschlager A, Beblo S, Strom TM, Meitinger T, Freisinger P, Donati MA, Prokisch H, Mootha VK, DiMauro S, Paw BH. Hildick-Smith GJ, et al. Among authors: cooney jd. Am J Hum Genet. 2013 Nov 7;93(5):906-14. doi: 10.1016/j.ajhg.2013.09.011. Epub 2013 Oct 10. Am J Hum Genet. 2013. PMID: 24119684 Free PMC article.
Mutation mapping and identification by whole-genome sequencing.
Leshchiner I, Alexa K, Kelsey P, Adzhubei I, Austin-Tse CA, Cooney JD, Anderson H, King MJ, Stottmann RW, Garnaas MK, Ha S, Drummond IA, Paw BH, North TE, Beier DR, Goessling W, Sunyaev SR. Leshchiner I, et al. Among authors: cooney jd. Genome Res. 2012 Aug;22(8):1541-8. doi: 10.1101/gr.135541.111. Epub 2012 May 3. Genome Res. 2012. PMID: 22555591 Free PMC article.
TMEM14C is required for erythroid mitochondrial heme metabolism.
Yien YY, Robledo RF, Schultz IJ, Takahashi-Makise N, Gwynn B, Bauer DE, Dass A, Yi G, Li L, Hildick-Smith GJ, Cooney JD, Pierce EL, Mohler K, Dailey TA, Miyata N, Kingsley PD, Garone C, Hattangadi SM, Huang H, Chen W, Keenan EM, Shah DI, Schlaeger TM, DiMauro S, Orkin SH, Cantor AB, Palis J, Koehler CM, Lodish HF, Kaplan J, Ward DM, Dailey HA, Phillips JD, Peters LL, Paw BH. Yien YY, et al. Among authors: cooney jd. J Clin Invest. 2014 Oct;124(10):4294-304. doi: 10.1172/JCI76979. Epub 2014 Aug 26. J Clin Invest. 2014. PMID: 25157825 Free PMC article.
The role and regulation of friend of GATA-1 (FOG-1) during blood development in the zebrafish.
Amigo JD, Ackermann GE, Cope JJ, Yu M, Cooney JD, Ma D, Langer NB, Shafizadeh E, Shaw GC, Horsely W, Trede NS, Davidson AJ, Barut BA, Zhou Y, Wojiski SA, Traver D, Moran TB, Kourkoulis G, Hsu K, Kanki JP, Shah DI, Lin HF, Handin RI, Cantor AB, Paw BH. Amigo JD, et al. Among authors: cooney jd. Blood. 2009 Nov 19;114(21):4654-63. doi: 10.1182/blood-2008-12-189910. Epub 2009 Sep 3. Blood. 2009. PMID: 19729519 Free PMC article.
Mitochondrial Atpif1 regulates haem synthesis in developing erythroblasts.
Shah DI, Takahashi-Makise N, Cooney JD, Li L, Schultz IJ, Pierce EL, Narla A, Seguin A, Hattangadi SM, Medlock AE, Langer NB, Dailey TA, Hurst SN, Faccenda D, Wiwczar JM, Heggers SK, Vogin G, Chen W, Chen C, Campagna DR, Brugnara C, Zhou Y, Ebert BL, Danial NN, Fleming MD, Ward DM, Campanella M, Dailey HA, Kaplan J, Paw BH. Shah DI, et al. Among authors: cooney jd. Nature. 2012 Nov 22;491(7425):608-12. doi: 10.1038/nature11536. Epub 2012 Nov 7. Nature. 2012. PMID: 23135403 Free PMC article.
Snx3 regulates recycling of the transferrin receptor and iron assimilation.
Chen C, Garcia-Santos D, Ishikawa Y, Seguin A, Li L, Fegan KH, Hildick-Smith GJ, Shah DI, Cooney JD, Chen W, King MJ, Yien YY, Schultz IJ, Anderson H, Dalton AJ, Freedman ML, Kingsley PD, Palis J, Hattangadi SM, Lodish HF, Ward DM, Kaplan J, Maeda T, Ponka P, Paw BH. Chen C, et al. Among authors: cooney jd. Cell Metab. 2013 Mar 5;17(3):343-52. doi: 10.1016/j.cmet.2013.01.013. Epub 2013 Feb 14. Cell Metab. 2013. PMID: 23416069 Free PMC article.
15 results