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Items: 1 to 20 of 34

1.

GWASdb v2: an update database for human genetic variants identified by genome-wide association studies.

Li MJ, Liu Z, Wang P, Wong MP, Nelson MR, Kocher JP, Yeager M, Sham PC, Chanock SJ, Xia Z, Wang J.

Nucleic Acids Res. 2016 Jan 4;44(D1):D869-76. doi: 10.1093/nar/gkv1317.

2.

Mutation screening of SCN2A in schizophrenia and identification of a novel loss-of-function mutation.

Carroll LS, Woolf R, Ibrahim Y, Williams HJ, Dwyer S, Walters J, Kirov G, O'Donovan MC, Owen MJ.

Psychiatr Genet. 2016 Apr;26(2):60-5. doi: 10.1097/YPG.0000000000000110.

3.

Determinants of the Usage of Splice-Associated cis-Motifs Predict the Distribution of Human Pathogenic SNPs.

Wu X, Hurst LD.

Mol Biol Evol. 2016 Feb;33(2):518-29. doi: 10.1093/molbev/msv251.

4.

The functional relevance of somatic synonymous mutations in melanoma and other cancers.

Gotea V, Gartner JJ, Qutob N, Elnitski L, Samuels Y.

Pigment Cell Melanoma Res. 2015 Nov;28(6):673-84. doi: 10.1111/pcmr.12413. Review.

5.

Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies.

Saqib MA, Nikopoulos K, Ullah E, Sher Khan F, Iqbal J, Bibi R, Jarral A, Sajid S, Nishiguchi KM, Venturini G, Ansar M, Rivolta C.

Sci Rep. 2015 May 6;5:9965. doi: 10.1038/srep09965.

6.

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

Xiong HY, Alipanahi B, Lee LJ, Bretschneider H, Merico D, Yuen RK, Hua Y, Gueroussov S, Najafabadi HS, Hughes TR, Morris Q, Barash Y, Krainer AR, Jojic N, Scherer SW, Blencowe BJ, Frey BJ.

Science. 2015 Jan 9;347(6218):1254806. doi: 10.1126/science.1254806.

7.

Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer.

Maxwell KN, Wubbenhorst B, D'Andrea K, Garman B, Long JM, Powers J, Rathbun K, Stopfer JE, Zhu J, Bradbury AR, Simon MS, DeMichele A, Domchek SM, Nathanson KL.

Genet Med. 2015 Aug;17(8):630-8. doi: 10.1038/gim.2014.176.

8.

SNPlice: variants that modulate Intron retention from RNA-sequencing data.

Mudvari P, Movassagh M, Kowsari K, Seyfi A, Kokkinaki M, Edwards NJ, Golestaneh N, Horvath A.

Bioinformatics. 2015 Apr 15;31(8):1191-8. doi: 10.1093/bioinformatics/btu804.

9.

Expanding the computational toolbox for mining cancer genomes.

Ding L, Wendl MC, McMichael JF, Raphael BJ.

Nat Rev Genet. 2014 Aug;15(8):556-70. doi: 10.1038/nrg3767. Review.

10.

Genomic approaches for the discovery of genes mutated in inherited retinal degeneration.

Siemiatkowska AM, Collin RW, den Hollander AI, Cremers FP.

Cold Spring Harb Perspect Med. 2014 Jun 17;4(8). pii: a017137. doi: 10.1101/cshperspect.a017137. Review.

11.

Lineage-specific splicing of a brain-enriched alternative exon promotes glioblastoma progression.

Ferrarese R, Harsh GR 4th, Yadav AK, Bug E, Maticzka D, Reichardt W, Dombrowski SM, Miller TE, Masilamani AP, Dai F, Kim H, Hadler M, Scholtens DM, Yu IL, Beck J, Srinivasasainagendra V, Costa F, Baxan N, Pfeifer D, von Elverfeldt D, Backofen R, Weyerbrock A, Duarte CW, He X, Prinz M, Chandler JP, Vogel H, Chakravarti A, Rich JN, Carro MS, Bredel M.

J Clin Invest. 2014 Jul;124(7):2861-76. doi: 10.1172/JCI68836.

12.

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.

Mort M, Sterne-Weiler T, Li B, Ball EV, Cooper DN, Radivojac P, Sanford JR, Mooney SD.

Genome Biol. 2014 Jan 13;15(1):R19. doi: 10.1186/gb-2014-15-1-r19.

13.

The evolution, impact and properties of exonic splice enhancers.

Cáceres EF, Hurst LD.

Genome Biol. 2013 Dec 20;14(12):R143. doi: 10.1186/gb-2013-14-12-r143.

14.

Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome.

Miller KA, Ah-Cann CJ, Welfare MF, Tan TY, Pope K, Caruana G, Freckmann ML, Savarirayan R, Bertram JF, Dobbie MS, Bateman JF, Farlie PG.

PLoS Genet. 2013 Aug;9(8):e1003746. doi: 10.1371/journal.pgen.1003746.

15.

Towards precision medicine: advances in computational approaches for the analysis of human variants.

Peterson TA, Doughty E, Kann MG.

J Mol Biol. 2013 Nov 1;425(21):4047-63. doi: 10.1016/j.jmb.2013.08.008. Review.

16.

Global regulation of alternative splicing by adenosine deaminase acting on RNA (ADAR).

Solomon O, Oren S, Safran M, Deshet-Unger N, Akiva P, Jacob-Hirsch J, Cesarkas K, Kabesa R, Amariglio N, Unger R, Rechavi G, Eyal E.

RNA. 2013 May;19(5):591-604. doi: 10.1261/rna.038042.112.

17.

Bidirectional promoters as important drivers for the emergence of species-specific transcripts.

Gotea V, Petrykowska HM, Elnitski L.

PLoS One. 2013;8(2):e57323. doi: 10.1371/journal.pone.0057323.

18.

Clinical implications of human population differences in genome-wide rates of functional genotypes.

Torkamani A, Pham P, Libiger O, Bansal V, Zhang G, Scott-Van Zeeland AA, Tewhey R, Topol EJ, Schork NJ.

Front Genet. 2012 Nov 1;3:211. doi: 10.3389/fgene.2012.00211.

19.

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.

20.

Functional analysis of synonymous substitutions predicted to affect splicing of the CFTR gene.

Scott A, Petrykowska HM, Hefferon T, Gotea V, Elnitski L.

J Cyst Fibros. 2012 Dec;11(6):511-7. doi: 10.1016/j.jcf.2012.04.009.

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