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Items: 1 to 20 of 22


Enhancer-promoter interactions are encoded by complex genomic signatures on looping chromatin.

Whalen S, Truty RM, Pollard KS.

Nat Genet. 2016 May;48(5):488-96. doi: 10.1038/ng.3539. Epub 2016 Apr 4.


A Dual Model for Prioritizing Cancer Mutations in the Non-coding Genome Based on Germline and Somatic Events.

Li J, Poursat MA, Drubay D, Motz A, Saci Z, Morillon A, Michiels S, Gautheret D.

PLoS Comput Biol. 2015 Nov 20;11(11):e1004583. doi: 10.1371/journal.pcbi.1004583. eCollection 2015 Nov.


Weak negative and positive selection and the drift load at splice sites.

Denisov SV, Bazykin GA, Sutormin R, Favorov AV, Mironov AA, Gelfand MS, Kondrashov AS.

Genome Biol Evol. 2014 May 14;6(6):1437-47. doi: 10.1093/gbe/evu100.


HPA axis genetic variation, cortisol and psychosis in major depression.

Schatzberg AF, Keller J, Tennakoon L, Lembke A, Williams G, Kraemer FB, Sarginson JE, Lazzeroni LC, Murphy GM.

Mol Psychiatry. 2014 Feb;19(2):220-7. doi: 10.1038/mp.2013.129. Epub 2013 Oct 29. Erratum in: Mol Psychiatry. 2014 Oct;19(10):1151.


The impact of cis-acting polymorphisms on the human phenotype.

Jones BL, Swallow DM.

Hugo J. 2011 Dec;5(1-4):13-23. doi: 10.1007/s11568-011-9155-4. Epub 2011 Jul 20.


From expression pattern to genetic association in asthma and asthma-related phenotypes.

Vaillancourt VT, Bordeleau M, Laviolette M, Laprise C.

BMC Res Notes. 2012 Nov 13;5:630. doi: 10.1186/1756-0500-5-630.


Genetic variations and alternative splicing: the Glioma associated oncogene 1, GLI1.

Zaphiropoulos PG.

Front Genet. 2012 Jul 6;3:119. doi: 10.3389/fgene.2012.00119. eCollection 2012.


Mining Functional Elements in Messenger RNAs: Overview, Challenges, and Perspectives.

Ahmed F, Benedito VA, Zhao PX.

Front Plant Sci. 2011 Nov 30;2:84. doi: 10.3389/fpls.2011.00084. eCollection 2011.


Association of OPRD1 polymorphisms with heroin dependence in a large case-control series.

Nelson EC, Lynskey MT, Heath AC, Wray N, Agrawal A, Shand FL, Henders AK, Wallace L, Todorov AA, Schrage AJ, Madden PA, Degenhardt L, Martin NG, Montgomery GW.

Addict Biol. 2014 Jan;19(1):111-21. doi: 10.1111/j.1369-1600.2012.00445.x. Epub 2012 Apr 13.


Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile encephalopathy.

Cartault F, Munier P, Benko E, Desguerre I, Hanein S, Boddaert N, Bandiera S, Vellayoudom J, Krejbich-Trotot P, Bintner M, Hoarau JJ, Girard M, Génin E, de Lonlay P, Fourmaintraux A, Naville M, Rodriguez D, Feingold J, Renouil M, Munnich A, Westhof E, Fähling M, Lyonnet S, Henrion-Caude A.

Proc Natl Acad Sci U S A. 2012 Mar 27;109(13):4980-5. doi: 10.1073/pnas.1111596109. Epub 2012 Mar 12.


Novel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus.

Czugala M, Karolak JA, Nowak DM, Polakowski P, Pitarque J, Molinari A, Rydzanicz M, Bejjani BA, Yue BY, Szaflik JP, Gajecka M.

Eur J Hum Genet. 2012 Apr;20(4):389-97. doi: 10.1038/ejhg.2011.203. Epub 2011 Nov 2.


SLC6A4 methylation modifies the effect of the number of traumatic events on risk for posttraumatic stress disorder.

Koenen KC, Uddin M, Chang SC, Aiello AE, Wildman DE, Goldmann E, Galea S.

Depress Anxiety. 2011 Aug;28(8):639-47. doi: 10.1002/da.20825. Epub 2011 May 23.


Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconus.

Karolak JA, Kulinska K, Nowak DM, Pitarque JA, Molinari A, Rydzanicz M, Bejjani BA, Gajecka M.

Mol Vis. 2011 Mar 30;17:827-43.


Global assessment of genetic variation influencing response to retinoid chemoprevention in head and neck cancer patients.

Lee JJ, Wu X, Hildebrandt MA, Yang H, Khuri FR, Kim E, Gu J, Ye Y, Lotan R, Spitz MR, Hong WK.

Cancer Prev Res (Phila). 2011 Feb;4(2):185-93. doi: 10.1158/1940-6207.CAPR-10-0125.


Predicting functionally important SNP classes based on negative selection.

Levenstien MA, Klein RJ.

BMC Bioinformatics. 2011 Jan 19;12:26. doi: 10.1186/1471-2105-12-26.


Context-dependent robustness to 5' splice site polymorphisms in human populations.

Lu ZX, Jiang P, Cai JJ, Xing Y.

Hum Mol Genet. 2011 Mar 15;20(6):1084-96. doi: 10.1093/hmg/ddq553. Epub 2010 Dec 28.


RNA editing of nuclear transcripts in Arabidopsis thaliana.

Meng Y, Chen D, Jin Y, Mao C, Wu P, Chen M.

BMC Genomics. 2010 Dec 2;11 Suppl 4:S12. doi: 10.1186/1471-2164-11-S4-S12.


Extending rare-variant testing strategies: analysis of noncoding sequence and imputed genotypes.

Zawistowski M, Gopalakrishnan S, Ding J, Li Y, Grimm S, Zöllner S.

Am J Hum Genet. 2010 Nov 12;87(5):604-17. doi: 10.1016/j.ajhg.2010.10.012.


Late onset sporadic dilated cardiomyopathy caused by a cardiac troponin T mutation.

Morales A, Pinto JR, Siegfried JD, Li D, Norton N, Hofmeyer M, Vallin M, Morales AR, Potter JD, Hershberger RE.

Clin Transl Sci. 2010 Oct;3(5):219-26. doi: 10.1111/j.1752-8062.2010.00228.x.

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