Works matching AU Walker, Logan C.

Results: 29
    1

    Evaluation of a 5-Tier Scheme Proposed for Classification of Sequence Variants Using Bioinformatic and Splicing Assay Data: Inter-Reviewer Variability and Promotion of Minimum Reporting Guidelines.

    Published in:
    Human Mutation, 2013, v. 34, n. 10, p. 1424, doi. 10.1002/humu.22388
    By:
    • Walker, Logan C.;
    • Whiley, Phillip J.;
    • Houdayer, Claude;
    • Hansen, Thomas V. O.;
    • Vega, Ana;
    • Santamarina, Marta;
    • Blanco, Ana;
    • Fachal, Laura;
    • Southey, Melissa C.;
    • Lafferty, Alan;
    • Colombo, Mara;
    • De Vecchi, Giovanna;
    • Radice, Paolo;
    • Spurdle, Amanda B.
    Publication type:
    Article
    2

    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.

    Published in:
    Human Mutation, 2011, v. 32, n. 6, p. 678, doi. 10.1002/humu.21495
    By:
    • Whiley, Phillip J.;
    • Guidugli, Lucia;
    • Walker, Logan C.;
    • Healey, Sue;
    • Thompson, Bryony A.;
    • Lakhani, Sunil R.;
    • Da Silva, Leonard M.;
    • Investigators, kConFab;
    • Tavtigian, Sean V.;
    • Goldgar, David E.;
    • Brown, Melissa A.;
    • Couch, Fergus J.;
    • Spurdle, Amanda B.
    Publication type:
    Article
    3

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

    Published in:
    Human Mutation, 2010, v. 31, n. 6, p. E1484, doi. 10.1002/humu.21267
    By:
    • Walker, Logan C.;
    • Whiley, Phillip J.;
    • Couch, Fergus J.;
    • Farrugia, Daniel J.;
    • Healey, Sue;
    • Eccles, Diana M.;
    • Lin, Feng;
    • Butler, Samantha A.;
    • Goff, Sheila A.;
    • Thompson, Bryony A.;
    • Lakhani, Sunil R.;
    • Da Silva, Leonard M.;
    • Tavtigian, Sean V.;
    • Goldgar, David E.;
    • Brown, Melissa A.;
    • Spurdle, Amanda B.
    Publication type:
    Article
    4
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    Rare germline copy number variants (CNVs) and breast cancer risk.

    Published in:
    Communications Biology, 2022, v. 5, n. 1, p. 1, doi. 10.1038/s42003-021-02990-6
    By:
    • Dennis, Joe;
    • Tyrer, Jonathan P.;
    • Walker, Logan C.;
    • Michailidou, Kyriaki;
    • Dorling, Leila;
    • Bolla, Manjeet K.;
    • Wang, Qin;
    • Ahearn, Thomas U.;
    • Andrulis, Irene L.;
    • Anton-Culver, Hoda;
    • Antonenkova, Natalia N.;
    • Arndt, Volker;
    • Aronson, Kristan J.;
    • Freeman, Laura E. Beane;
    • Beckmann, Matthias W.;
    • Behrens, Sabine;
    • Benitez, Javier;
    • Bermisheva, Marina;
    • Bogdanova, Natalia V.;
    • Bojesen, Stig E.
    Publication type:
    Article
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    Differential Expression of BARD1 Isoforms in Melanoma.

    Published in:
    Genes, 2021, v. 12, n. 2, p. 320, doi. 10.3390/genes12020320
    By:
    • McDougall, Lorissa I.;
    • Powell, Ryan M.;
    • Ratajska, Magdalena;
    • Lynch-Sutherland, Chi F.;
    • Hossain, Sultana Mehbuba;
    • Wiggins, George A. R.;
    • Harazin-Lechowska, Agnieszka;
    • Cybulska-Stopa, Bożena;
    • Motwani, Jyoti;
    • Macaulay, Erin C.;
    • Reid, Glen;
    • Walker, Logan C.;
    • Ryś, Janusz;
    • Eccles, Michael R.;
    • Kumar, Rajiv;
    • Winqvist, Robert
    Publication type:
    Article
    9

    Genome-wide association study identifies a common variant associated with risk of endometrial cancer.

    Published in:
    Nature Genetics, 2011, v. 43, n. 5, p. 451, doi. 10.1038/ng.812
    By:
    • Spurdle, Amanda B.;
    • Thompson, Deborah J.;
    • Ahmed, Shahana;
    • Ferguson, Kaltin;
    • Healey, Catherine S.;
    • O'Mara, Tracy;
    • Walker, Logan C.;
    • Montgomery, Stephen B.;
    • Dermitzakis, Emmanouil T.;
    • Fahey, Paul;
    • Montgomery, Grant W.;
    • Webb, Penelope M.;
    • Fasching, Peter A.;
    • Beckmann, Matthias W.;
    • Ekici, Arif B.;
    • Hein, Alexander;
    • Lambrechts, Diether;
    • Coenegrachts, Lieve;
    • Vergote, Ignace;
    • Amant, Frederic
    Publication type:
    Article
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    Cytomegalovirus and Epstein-Barr Virus in Breast Cancer.

    Published in:
    PLoS ONE, 2015, v. 10, n. 2, p. 1, doi. 10.1371/journal.pone.0118989
    By:
    • Richardson, Ann K.;
    • Currie, Margaret J.;
    • Robinson, Bridget A.;
    • Morrin, Helen;
    • Phung, Yen;
    • Pearson, John F.;
    • Anderson, Trevor P.;
    • Potter, John D.;
    • Walker, Logan C.
    Publication type:
    Article
    14
    15

    Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.

    Published in:
    Human Molecular Genetics, 2016, v. 25, n. 11, p. 2256, doi. 10.1093/hmg/ddw094
    By:
    • de la Hoya, Miguel;
    • Soukarieh, Omar;
    • López-Perolio, Irene;
    • Vega, Ana;
    • Walker, Logan C.;
    • van Ierland, Yvette;
    • Baralle, Diana;
    • Santamariña, Marta;
    • Lattimore, Vanessa;
    • Wijnen, Juul;
    • Whiley, Philip;
    • Blanco, Ana;
    • Raponi, Michela;
    • Hauke, Jan;
    • Wappenschmidt, Barbara;
    • Becker, Alexandra;
    • Hansen, Thomas V. O.;
    • Behar, Raquel;
    • Niederacher, Diether;
    • Arnold, Norbert
    Publication type:
    Article
    16
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    Targeted RNA‐seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes.

    Published in:
    International Journal of Cancer, 2019, v. 145, n. 2, p. 401, doi. 10.1002/ijc.32114
    By:
    • Brandão, Rita D.;
    • Mensaert, Klaas;
    • López‐Perolio, Irene;
    • Tserpelis, Demis;
    • Xenakis, Markos;
    • Lattimore, Vanessa;
    • Walker, Logan C.;
    • Kvist, Anders;
    • Vega, Ana;
    • Gutiérrez‐Enríquez, Sara;
    • Díez, Orland;
    • Hoya, Miguel;
    • Spurdle, Amanda B.;
    • De Meyer, Tim;
    • Blok, Marinus J.
    Publication type:
    Article
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    Quantifying BRCA1 and BRCA2 mRNA Isoform Expression Levels in Single Cells.

    Published in:
    International Journal of Molecular Sciences, 2019, v. 20, n. 3, p. 693, doi. 10.3390/ijms20030693
    By:
    • Lattimore, Vanessa L.;
    • Pearson, John F.;
    • Morley-Bunker, Arthur E.;
    • Investigators, kConFab;
    • Spurdle, Amanda B.;
    • Robinson, Bridget A.;
    • Currie, Margaret J.;
    • Walker, Logan C.
    Publication type:
    Article
    23

    Comprehensive Assessment of BARD1 Messenger Ribonucleic Acid Splicing With Implications for Variant Classification.

    Published in:
    Frontiers in Genetics, 2019, v. 10, p. 1, doi. 10.3389/fgene.2019.01139
    By:
    • Walker, Logan C.;
    • Lattimore, Vanessa Lilian;
    • Kvist, Anders;
    • Kleiblova, Petra;
    • Zemankova, Petra;
    • de Jong, Lucy;
    • Wiggins, George A. R.;
    • Hakkaart, Christopher;
    • Cree, Simone L.;
    • Behar, Raquel;
    • Houdayer, Claude;
    • Investigators, kConFab;
    • Parsons, Michael T.;
    • Kennedy, Martin A.;
    • Spurdle, Amanda B.;
    • de la Hoya, Miguel
    Publication type:
    Article
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