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Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication.

Dastan J, Chijiwa C, Tang F, Martell S, Qiao Y, Rajcan-Separovic E, Lewis ME.

BMC Med Genet. 2016 Nov 10;17(1):78.


Lessons from non-canonical splicing.

Sibley CR, Blazquez L, Ule J.

Nat Rev Genet. 2016 Jul;17(7):407-21. doi: 10.1038/nrg.2016.46. Epub 2016 May 31. Review.


Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants.

Vallée MP, Di Sera TL, Nix DA, Paquette AM, Parsons MT, Bell R, Hoffman A, Hogervorst FB, Goldgar DE, Spurdle AB, Tavtigian SV.

Hum Mutat. 2016 Jul;37(7):627-39. doi: 10.1002/humu.22973. Epub 2016 Apr 15.


The CYP19 RS4646 polymorphism IS related to the prognosis of stage I-II and operable stage III breast cancer.

Shao X, Guo Y, Xu X, Zheng Y, Wang J, Chen Z, Huang J, Huang P, Cai J, Wang X.

PLoS One. 2015 Mar 20;10(3):e0121535. doi: 10.1371/journal.pone.0121535. eCollection 2015.


Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Bodian DL, McCutcheon JN, Kothiyal P, Huddleston KC, Iyer RK, Vockley JG, Niederhuber JE.

PLoS One. 2014 Apr 11;9(4):e94554. doi: 10.1371/journal.pone.0094554. eCollection 2014.


Functional characterization of BRCA1 gene variants by mini-gene splicing assay.

Steffensen AY, Dandanell M, Jønson L, Ejlertsen B, Gerdes AM, Nielsen FC, Hansen Tv.

Eur J Hum Genet. 2014 Dec;22(12):1362-8. doi: 10.1038/ejhg.2014.40. Epub 2014 Mar 26.


Identification of novel point mutations in splicing sites integrating whole-exome and RNA-seq data in myeloproliferative diseases.

Spinelli R, Pirola A, Redaelli S, Sharma N, Raman H, Valletta S, Magistroni V, Piazza R, Gambacorti-Passerini C.

Mol Genet Genomic Med. 2013 Nov;1(4):246-59. doi: 10.1002/mgg3.23. Epub 2013 Jul 7. Erratum in: Mol Genet Genomic Med. 2014 Mar;2(2):204.


Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing.

Whiley PJ, de la Hoya M, Thomassen M, Becker A, Brandão R, Pedersen IS, Montagna M, Menéndez M, Quiles F, Gutiérrez-Enríquez S, De Leeneer K, Tenés A, Montalban G, Tserpelis D, Yoshimatsu T, Tirapo C, Raponi M, Caldes T, Blanco A, Santamariña M, Guidugli L, de Garibay GR, Wong M, Tancredi M, Fachal L, Ding YC, Kruse T, Lattimore V, Kwong A, Chan TL, Colombo M, De Vecchi G, Caligo M, Baralle D, Lázaro C, Couch F, Radice P, Southey MC, Neuhausen S, Houdayer C, Fackenthal J, Hansen TV, Vega A, Diez O, Blok R, Claes K, Wappenschmidt B, Walker L, Spurdle AB, Brown MA; ENIGMA consortium..

Clin Chem. 2014 Feb;60(2):341-52. doi: 10.1373/clinchem.2013.210658. Epub 2013 Nov 8.


Role of pseudoexons and pseudointrons in human cancer.

Romano M, Buratti E, Baralle D.

Int J Cell Biol. 2013;2013:810572. doi: 10.1155/2013/810572. Epub 2013 Sep 24. Review.


Effect of the novel Moroccan BRCA1 and BRCA2 frameshift mutations.

Tazzite A, Jouhadi H, Hamzi K, Benider A, Nadifi S.

Indian J Hum Genet. 2013 Apr;19(2):274-5. doi: 10.4103/0971-6866.116114. No abstract available.


Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations.

Colombo M, De Vecchi G, Caleca L, Foglia C, Ripamonti CB, Ficarazzi F, Barile M, Varesco L, Peissel B, Manoukian S, Radice P.

PLoS One. 2013;8(2):e57173. doi: 10.1371/journal.pone.0057173. Epub 2013 Feb 22.


Associations between aromatase CYP19 rs10046 polymorphism and breast cancer risk: from a case-control to a meta-analysis of 20,098 subjects.

Pineda B, García-Pérez MÁ, Cano A, Lluch A, Eroles P.

PLoS One. 2013;8(1):e53902. doi: 10.1371/journal.pone.0053902. Epub 2013 Jan 16.


Identifying breast cancer risk loci by global differential allele-specific expression (DASE) analysis in mammary epithelial transcriptome.

Gao C, Devarajan K, Zhou Y, Slater CM, Daly MB, Chen X.

BMC Genomics. 2012 Oct 30;13:570. doi: 10.1186/1471-2164-13-570.


Identification of activated cryptic 5' splice sites using structure profiles and odds measure.

Tsai KN, Wang D.

Nucleic Acids Res. 2012 May;40(10):e73. doi: 10.1093/nar/gks061. Epub 2012 Feb 9.


Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases.

Caputo S, Benboudjema L, Sinilnikova O, Rouleau E, Béroud C, Lidereau R; French BRCA GGC Consortium..

Nucleic Acids Res. 2012 Jan;40(Database issue):D992-1002. doi: 10.1093/nar/gkr1160. Epub 2011 Dec 5.


Proteomic consequences of a single gene mutation in a colorectal cancer model.

Halvey PJ, Zhang B, Coffey RJ, Liebler DC, Slebos RJ.

J Proteome Res. 2012 Feb 3;11(2):1184-95. doi: 10.1021/pr2009109. Epub 2011 Dec 13.


Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes.

Théry JC, Krieger S, Gaildrat P, Révillion F, Buisine MP, Killian A, Duponchel C, Rousselin A, Vaur D, Peyrat JP, Berthet P, Frébourg T, Martins A, Hardouin A, Tosi M.

Eur J Hum Genet. 2011 Oct;19(10):1052-8. doi: 10.1038/ejhg.2011.100. Epub 2011 Jun 15.


Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary.

Whiley PJ, Guidugli L, Walker LC, Healey S, Thompson BA, Lakhani SR, Da Silva LM; kConFab Investigators., Tavtigian SV, Goldgar DE, Brown MA, Couch FJ, Spurdle AB.

Hum Mutat. 2011 Jun;32(6):678-87. doi: 10.1002/humu.21495. Epub 2011 Apr 12.


Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity.

Walker LC, Whiley PJ, Couch FJ, Farrugia DJ, Healey S, Eccles DM, Lin F, Butler SA, Goff SA, Thompson BA, Lakhani SR, Da Silva LM; kConFab Investigators., Tavtigian SV, Goldgar DE, Brown MA, Spurdle AB.

Hum Mutat. 2010 Jun;31(6):E1484-505. doi: 10.1002/humu.21267.


Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study.

Caux-Moncoutier V, Pagès-Berhouet S, Michaux D, Asselain B, Castéra L, De Pauw A, Buecher B, Gauthier-Villars M, Stoppa-Lyonnet D, Houdayer C.

Eur J Hum Genet. 2009 Nov;17(11):1471-80. doi: 10.1038/ejhg.2009.89. Epub 2009 May 27.

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