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A genome-wide association study on African-ancestry populations for asthma.
Mathias RA, Grant AV, Rafaels N, Hand T, Gao L, Vergara C, Tsai YJ, Yang M, Campbell M, Foster C, Gao P, Togias A, Hansel NN, Diette G, Adkinson NF, Liu MC, Faruque M, Dunston GM, Watson HR, Bracken MB, Hoh J, Maul P, Maul T, Jedlicka AE, Murray T, Hetmanski JB, Ashworth R, Ongaco CM, Hetrick KN, Doheny KF, Pugh EW, Rotimi CN, Ford J, Eng C, Burchard EG, Sleiman PM, Hakonarson H, Forno E, Raby BA, Weiss ST, Scott AF, Kabesch M, Liang L, Abecasis G, Moffatt MF, Cookson WO, Ruczinski I, Beaty TH, Barnes KC. Mathias RA, et al. J Allergy Clin Immunol. 2010 Feb;125(2):336-346.e4. doi: 10.1016/j.jaci.2009.08.031. Epub 2009 Nov 11. J Allergy Clin Immunol. 2010. PMID: 19910028 Free PMC article.
Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy.
Hoover-Fong J, Sobreira N, Jurgens J, Modaff P, Blout C, Moser A, Kim OH, Cho TJ, Cho SY, Kim SJ, Jin DK, Kitoh H, Park WY, Ling H, Hetrick KN, Doheny KF, Valle D, Pauli RM. Hoover-Fong J, et al. Am J Hum Genet. 2014 Jan 2;94(1):105-12. doi: 10.1016/j.ajhg.2013.11.018. Am J Hum Genet. 2014. PMID: 24387990 Free PMC article. No abstract available.
Mutations in Alström protein impair terminal differentiation of cardiomyocytes.
Shenje LT, Andersen P, Halushka MK, Lui C, Fernandez L, Collin GB, Amat-Alarcon N, Meschino W, Cutz E, Chang K, Yonescu R, Batista DA, Chen Y, Chelko S, Crosson JE, Scheel J, Vricella L, Craig BD, Marosy BA, Mohr DW, Hetrick KN, Romm JM, Scott AF, Valle D, Naggert JK, Kwon C, Doheny KF, Judge DP. Shenje LT, et al. Among authors: doheny kf. Nat Commun. 2014 Mar 4;5:3416. doi: 10.1038/ncomms4416. Nat Commun. 2014. PMID: 24595103 Free PMC article.
Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencing.
Scott AF, Mohr DW, Kasch LM, Barton JA, Pittiglio R, Ingersoll R, Craig B, Marosy BA, Doheny KF, Bromley WC, Roderick TH, Chassaing N, Calvas P, Prabhu SS, Jabs EW. Scott AF, et al. JAMA Ophthalmol. 2014 Oct;132(10):1215-20. doi: 10.1001/jamaophthalmol.2014.1731. JAMA Ophthalmol. 2014. PMID: 24993872
Lessons learned from whole exome sequencing in multiplex families affected by a complex genetic disorder, intracranial aneurysm.
Farlow JL, Lin H, Sauerbeck L, Lai D, Koller DL, Pugh E, Hetrick K, Ling H, Kleinloog R, van der Vlies P, Deelen P, Swertz MA, Verweij BH, Regli L, Rinkel GJ, Ruigrok YM, Doheny K, Liu Y, Broderick J, Foroud T; FIA Study Investigators. Farlow JL, et al. Among authors: doheny k. PLoS One. 2015 Mar 24;10(3):e0121104. doi: 10.1371/journal.pone.0121104. eCollection 2015. PLoS One. 2015. PMID: 25803036 Free PMC article.
174 results