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Page 1
Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report.
Lopez-Perolio I, Leman R, Behar R, Lattimore V, Pearson JF, Castéra L, Martins A, Vaur D, Goardon N, Davy G, Garre P, García-Barberán V, Llovet P, Pérez-Segura P, Díaz-Rubio E, Caldés T, Hruska KS, Hsuan V, Wu S, Pesaran T, Karam R, Vallon-Christersson J, Borg A; kConFab Investigators; Valenzuela-Palomo A, Velasco EA, Southey M, Vreeswijk MPG, Devilee P, Kvist A, Spurdle AB, Walker LC, Krieger S, de la Hoya M. Lopez-Perolio I, et al. Among authors: pearson jf. J Med Genet. 2019 Jul;56(7):453-460. doi: 10.1136/jmedgenet-2018-105834. Epub 2019 Mar 19. J Med Genet. 2019. PMID: 30890586 Free PMC article.
Rare germline copy number deletions of likely functional importance are implicated in endometrial cancer predisposition.
Moir-Meyer GL, Pearson JF, Lose F; Australian National Endometrial Cancer Study Group; Scott RJ, McEvoy M, Attia J, Holliday EG; Hunter Community Study; Studies of Epidemiology and Risk Factors in Cancer Heredity; Pharoah PD, Dunning AM, Thompson DJ, Easton DF, Spurdle AB, Walker LC. Moir-Meyer GL, et al. Among authors: pearson jf. Hum Genet. 2015 Mar;134(3):269-78. doi: 10.1007/s00439-014-1507-4. Epub 2014 Nov 9. Hum Genet. 2015. PMID: 25381466
Cytomegalovirus and Epstein-Barr virus in breast cancer.
Richardson AK, Currie MJ, Robinson BA, Morrin H, Phung Y, Pearson JF, Anderson TP, Potter JD, Walker LC. Richardson AK, et al. Among authors: pearson jf. PLoS One. 2015 Feb 27;10(2):e0118989. doi: 10.1371/journal.pone.0118989. eCollection 2015. PLoS One. 2015. PMID: 25723522 Free PMC article. Review.
The Role of Constitutional Copy Number Variants in Breast Cancer.
Walker LC, Wiggins GA, Pearson JF. Walker LC, et al. Among authors: pearson jf. Microarrays (Basel). 2015 Sep 8;4(3):407-23. doi: 10.3390/microarrays4030407. Microarrays (Basel). 2015. PMID: 27600231 Free PMC article. Review.
Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers.
Walker LC, Marquart L, Pearson JF, Wiggins GA, O'Mara TA, Parsons MT; BCFR; Barrowdale D, McGuffog L, Dennis J, Benitez J, Slavin TP, Radice P, Frost D; EMBRACE; Godwin AK, Meindl A, Schmutzler RK; GEMO Study Collaborators; Isaacs C, Peshkin BN, Caldes T, Hogervorst FB; HEBON; Lazaro C, Jakubowska A, Montagna M; KConFab Investigators; Chen X, Offit K, Hulick PJ, Andrulis IL, Lindblom A, Nussbaum RL, Nathanson KL, Chenevix-Trench G, Antoniou AC, Couch FJ, Spurdle AB. Walker LC, et al. Among authors: pearson jf. Eur J Hum Genet. 2017 Apr;25(4):432-438. doi: 10.1038/ejhg.2016.203. Epub 2017 Feb 1. Eur J Hum Genet. 2017. PMID: 28145423 Free PMC article.
Investigation of Experimental Factors That Underlie BRCA1/2 mRNA Isoform Expression Variation: Recommendations for Utilizing Targeted RNA Sequencing to Evaluate Potential Spliceogenic Variants.
Lattimore VL, Pearson JF, Currie MJ, Spurdle AB; kConFab Investigators; Robinson BA, Walker LC. Lattimore VL, et al. Among authors: pearson jf. Front Oncol. 2018 May 3;8:140. doi: 10.3389/fonc.2018.00140. eCollection 2018. Front Oncol. 2018. PMID: 29774201 Free PMC article.
Correction: Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers.
Walker LC, Marquart L, Pearson JF, Wiggins GAR, O'Mara TA, Parsons MT; BCFR; Barrowdale D, McGuffog L, Dennis J, Benitez J, Slavin TP, Radice P, Frost D; EMBRACE; Godwin AK, Meindl A, Schmutzler RK; GEMO Study Collaborators; Isaacs C, Peshkin BN, Caldes T, Hogervorst FBL; HEBON; Lazaro C, Jakubowska A, Montagna M; KConFab Investigators; Chen X, Offit K, Hulick PJ, Andrulis IL, Lindblom A, Nussbaum RL, Nathanson KL, Chenevix-Trench G, Antoniou AC, Couch FJ, Spurdle AB. Walker LC, et al. Among authors: pearson jf. Eur J Hum Genet. 2019 Jan;27(1):167-168. doi: 10.1038/s41431-018-0216-1. Eur J Hum Genet. 2019. PMID: 30135485 Free PMC article.
Quantifying BRCA1 and BRCA2 mRNA Isoform Expression Levels in Single Cells.
Lattimore VL, Pearson JF, Morley-Bunker AE; kConFab Investigators; Spurdle AB, Robinson BA, Currie MJ, Walker LC. Lattimore VL, et al. Among authors: pearson jf. Int J Mol Sci. 2019 Feb 6;20(3):693. doi: 10.3390/ijms20030693. Int J Mol Sci. 2019. PMID: 30736279 Free PMC article.
172 results