Search Results - Logan C. Walker

  • Showing 1 - 14 results of 14
Refine Results
  1. 1
    The Myocardial Ischaemia National Audit Project (MINAP)

    The Myocardial Ischaemia National Audit Project (MINAP) by Emily Herrett, Liam Smeeth, Logan C. Walker, Clive Weston

    Published 2010
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  2. 2
    Cytomegalovirus and Epstein-Barr Virus in Breast Cancer

    Cytomegalovirus and Epstein-Barr Virus in Breast Cancer by Ann Richardson, Margaret J. Currie, Bridget A. Robinson, Helen Morrin, Yen Phung, John F. Pearson, Trevor P. Anderson, John D. Potter, Logan C. Walker

    Published 2015
    Get full text Get full text
    Revisão
    Save to List
    Saved in:
  3. 3
    Nanopore sequencing of full-length BRCA1 mRNA transcripts reveals co-occurrence of known exon skipping events

    Nanopore sequencing of full-length BRCA1 mRNA transcripts reveals co-occurrence of known exon skipping events by Lucy C. de Jong, Simone L. Cree, Vanessa Lattimore, George A. R. Wiggins, Amanda B. Spurdle, Allison L. Miller, Martin A. Kennedy, Logan C. Walker

    Published 2017
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  4. 4
    Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity

    Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity by Logan C. Walker, Phillip J Whiley, Fergus J. Couch, Daniel J. Farrugia, Sue Healey, Diana Eccles, Feng Lin, Samantha Butler, Sheila Goff, Bryony A. Thompson, Sunil R. Lakhani, Leonard Da Silva, Sean V. Tavtigian, David E. Goldgar, Melissa A. Brown, Amanda B. Spurdle

    Published 2010
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  5. 5
    Loss of IDH2 Accelerates Age-related Hearing Loss in Male Mice

    Loss of IDH2 Accelerates Age-related Hearing Loss in Male Mice by Karessa White, Mi‐Jung Kim, Chul Ju Han, Hyo‐Jin Park, Dalian Ding, Kevin N. Boyd, Logan C. Walker, Paul J. Linser, Zaimary Meneses, Cole Slade, Jonathan J. Hirst, Katherine E. Santostefano, Naohiro Terada, Takuya Miyakawa, Masaru Tanokura, Richard Salvi, Shinichi Someya

    Published 2018
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  6. 6
    Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium

    Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium by Mara Colombo, Marinus J. Blok, Phillip J Whiley, Marta Santamariña, Sara Gutiérrez‐Enríquez, Atocha Romero, Pilar Garré, Alexandra Becker, Lindsay Smith, Giovanna De Vecchi, Rita D. Brandão, Demis Tserpelis, Melissa A. Brown, Ana Blanco, Sandra Bonache, Mireia Menéndez, Claude Houdayer, Claudia Foglia, James D. Fackenthal, Diana Baralle, Barbara Wappenschmidt, Eduardo Díaz‐Rubio, Trinidad Caldés, Logan C. Walker, Orland Dı́ez, Ana Vega, Amanda B. Spurdle, Paolo Radice, Miguel de la Hoya

    Published 2014
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  7. 7
    Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants

    Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants by Raphaël Leman, Hélène Tubeuf, Sabine Raad, Isabelle Tournier, Céline Derambure, Raphaël Lanos, Pascaline Gaildrat, G Castelain, Julie Hauchard, Audrey Killian, Stéphanie Baert‐Desurmont, Angélina Legros, Nicolas Goardon, Céline Quesnelle, Agathe Ricou, Laurent Castéra, Dominique Vaur, Gérald Le Gac, Chandran Ka, Yann Fichou, Françoise Bonnet‐Dorion, Nicolas Sévenet, Marine Guillaud-Bataille, Nadia Boutry‐Kryza, Inès Schultz, Virginie Caux‐Moncoutier, Maria Rossing, Logan C. Walker, Amanda B. Spurdle, Claude Houdayer, Alexandra Martins, Sophie Krieger

    Published 2020
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  8. 8
    Naturally occurring<i>BRCA2</i>alternative mRNA splicing events in clinically relevant samples

    Naturally occurring<i>BRCA2</i>alternative mRNA splicing events in clinically relevant samples by James D. Fackenthal, Toshio F. Yoshimatsu, Bifeng Zhang, Gorka Ruíz de Garibay, Mara Colombo, Giovanna De Vecchi, Samantha Ayoub, Kumar Lal, Olufunmilayo I. Olopade, Ana Vega, Marta Santamariña, Ana Blanco, Barbara Wappenschmidt, Alexandra Becker, Claude Houdayer, Logan C. Walker, Irene López‐Perolio, Mads Thomassen, Michael T. Parsons, Phillip J Whiley, Marinus J. Blok, Rita D. Brandão, Demis Tserpelis, Diana Baralle, Gemma Montalban, Sara Gutiérrez‐Enríquez, Orland Dı́ez, Conxi Lázaro, Amanda B. Spurdle, Paolo Radice, Miguel de la Hoya

    Published 2016
    Get full text
    Artigo
    Save to List
    Saved in:
  9. 9
    Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup

    Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup by Logan C. Walker, Miguel de la Hoya, George A. R. Wiggins, Amanda Lindy, Lisa M. Vincent, Michael T. Parsons, Daffodil M. Canson, Dana M. Bis‐Brewer, Ashley Cass, Alexander Tchourbanov, Heather Zimmermann, Alicia B. Byrne, Tina Pesaran, Rachid Karam, Steven M. Harrison, Amanda B. Spurdle, Leslie G. Biesecker, Steven M. Harrison, Ahmad Abou Tayoun, Jonathan S. Berg, Steven E. Brenner, Garry R. Cutting, Sian Ellard, Marc S. Greenblatt, Peter B. Kang, Izabela Karbassi, Rachel Karchin, Jessica L. Mester, Anne O’Donnell‐Luria, Tina Pesaran, Sharon E. Plon, Heidi L. Rehm, Natasha T. Strande, Sean V. Tavtigian, Scott Topper

    Published 2023
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  10. 10
    Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel

    Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel by Michael T. Parsons, Miguel de la Hoya, Marcy E. Richardson, Emma Tudini, Michael G. Anderson, Windy Berkofsky‐Fessler, Sandrine M. Caputo, Raymond C. Chan, Melissa Cline, Bing Feng, Cristina Fortuño, E. Gómez, Johanna Hadler, Susan Hiraki, Megan Holdren, Claude Houdayer, Kathleen S. Hruska, Paul A. James, Rachid Karam, Huei San Leong, Alexandra Martins, Arjen R. Mensenkamp, Álvaro N.A. Monteiro, Vaishnavi Nathan, Robert O’Connor, Inge Søkilde Pedersen, Tina Pesaran, Paolo Radice, Gunnar Schmidt, Melissa C. Southey, Sean V. Tavtigian, Bryony A. Thompson, Amanda E. Toland, Clare Turnbull, Maartje J. Vogel, Jamie Weyandt, George A. R. Wiggins, Lauren Zec, Fergus J. Couch, Logan C. Walker, Maaike P.G. Vreeswijk, David E. Goldgar, Amanda B. Spurdle

    Published 2024
    Get full text
    Artigo
    Save to List
    Saved in:
  11. 11
    Genome-wide association study identifies a common variant associated with risk of endometrial cancer

    Genome-wide association study identifies a common variant associated with risk of endometrial cancer by Amanda B. Spurdle, Deborah J. Thompson, Shahana Ahmed, Kaltin Ferguson, Catherine S. Healey, Tracy A. O’Mara, Logan C. Walker, Stephen B. Montgomery, Emmanouil T. Dermitzakis, Paul Fahey, Grant W. Montgomery, Penelope M. Webb, Peter A. Fasching, Matthias W. Beckmann, Arif B. Ekici, Alexander Hein, Diether Lambrechts, Lieve Coenegrachts, Ignace Vergote, Frédéric Amant, Helga B. Salvesen, Jone Trovik, Tormund S. Njølstad, Harald Helland, Rodney J. Scott, Katie A. Ashton, Tony Proietto, Geoffrey Otton, Ian Tomlinson, Maggie Gorman, Kimberley Howarth, Shirley Hodgson, Montserrat García‐Closas, Nicolas Wentzensen, Hannah Yang, Stephen J. Chanock, Per Hall, Kamila Czene, Jianjun Liu, Jingmei Li, Xiao‐Ou Shu, Wei Zheng, Jirong Long, Yong‐Bing Xiang, Mitul Shah, Jonathan J. Morrison, Kyriaki Michailidou, Paul D.P. Pharoah, Alison M. Dunning, Douglas F. Easton

    Published 2011
    Get full text
    Artigo
    Save to List
    Saved in:
  12. 12
    Comparison of mRNA Splicing Assay Protocols across Multiple Laboratories: Recommendations for Best Practice in Standardized Clinical Testing

    Comparison of mRNA Splicing Assay Protocols across Multiple Laboratories: Recommendations for Best Practice in Standardized Clinical Testing by Phillip J Whiley, Miguel de la Hoya, Mads Thomassen, Alexandra Becker, Rita D. Brandão, Inge Søkilde Pedersen, Marco Montagna, Mireia Menéndez, Francisco Quiles, Sara Gutiérrez‐Enríquez, Kim De Leeneer, Anna Tenés, Gemma Montalban, Demis Tserpelis, Toshio F. Yoshimatsu, Carole Tirapo, Michela Raponi, Trinidad Caldés, Ana Blanco, Marta Santamariña, Lucia Guidugli, Gorka Ruíz de Garibay, Ming Wong, Mariella Tancredi, Laura Fachal, Yuan Chun Ding, Torben A. Kruse, Vanessa Lattimore, Ava Kwong, Tsun Leung Chan, Mara Colombo, Giovanni De Vecchi, Maria A. Caligo, Diana Baralle, Conxi Lázaro, Fergus J. Couch, Paolo Radice, Melissa C. Southey, Susan L. Neuhausen, Claude Houdayer, Jim Fackenthal, Thomas van Overeem Hansen, Ana Vega, Orland Dı́ez, Rien Blok, Kathleen Claes, Barbara Wappenschmidt, Logan C. Walker, Amanda B. Spurdle, Melissa A. Brown

    Published 2013
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  13. 13
    Combined genetic and splicing analysis of BRCA1 c.[594-2A&gt;C; 641A&gt;G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms

    Combined genetic and splicing analysis of BRCA1 c.[594-2A&gt;C; 641A&gt;G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant... by Miguel de la Hoya, Omar Soukarieh, Irene López‐Perolio, Ana Vega, Logan C. Walker, Yvette van Ierland, Diana Baralle, Marta Santamariña, Vanessa Lattimore, Juul Wijnen, Philip J. Whiley, Ana Blanco, Michela Raponi, Jan Hauke, Barbara Wappenschmidt, Alexandra Becker, Thomas van Overeem Hansen, Raquel Behar, kConFab Investigators, Diether Niederacher, Norbert Arnold, Bernd Dworniczak, Doris Steinemann, Ulrike Faust, Wendy S. Rubinstein, Peter J. Hulick, Claude Houdayer, Sandrine M. Caputo, Laurent Castéra, Tina Pesaran, Elizabeth Chao, Carole Brewer, Melissa C. Southey, Christi J. van Asperen, Christian F. Singer, Jan Sullivan, Nicola Poplawski, Phuong Mai, Julian Peto, Nichola Johnson, Barbara Burwinkel, Harald Surowy, Stig E. Bojesen, Henrik Flyger, Annika Lindblom, Sara Margolin, Jenny Chang‐Claude, Anja Rudolph, Paolo Radice, Laura Galastri, Janet E. Olson, Emily Hallberg, Graham G. Giles, Roger L. Milne, Irene L. Andrulis, Gord Glendon, Per Hall, Kamila Czene, Fiona M. Blows, Mitul Shah, Qin Wang, Joe Dennis, Kyriaki Michailidou, Lesley McGuffog, Manjeet K. Bolla, Antonis C. Antoniou, Douglas F. Easton, Fergus J. Couch, Sean V. Tavtigian, Maaike P.G. Vreeswijk, Michael T. Parsons, Huong Meeks, Alexandra Martins, David E. Goldgar, Amanda B. Spurdle

    Published 2016
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  14. 14
    Heritable DNA methylation marks associated with susceptibility to breast cancer

    Heritable DNA methylation marks associated with susceptibility to breast cancer by Jihoon E. Joo, James G. Dowty, Roger L. Milne, Ee Ming Wong, Pierre‐Antoine Dugué, Dallas R. English, John L. Hopper, David E. Goldgar, Graham G. Giles, Melissa C. Southey, Adrienne Sexton, Alice Christian, Alison H. Trainer, Allan D. Spigelman, Andrew Fellows, Andrew N. Shelling, Anna de Fazio, Anneke C. Blackburn, Ashley Crook, Bettina Meiser, Briony Patterson, Christine L. Clarke, Christobel Saunders, Clare Hunt, Clare L. Scott, David J. Amor, Deborah J. Marsh, Edward Edkins, Elizabeth Salisbury, Eric Haan, Eveline Neidermayr, Finlay Macrae, Gelareh Farshid, Geoffrey J. Lindeman, Georgia Chenevix‐Trench, Graham J. Mann, Grantley Gill, Heather Thorne, Ian Campbell, Ian B. Hickie, Ingrid Winship, Jack Goldblatt, James M. Flanagan, James Kollias, Jane E. Visvader, Jennifer Stone, Jessica Taylor, Jo Burke, Jodi M. Saunus, John Forbes, Jonathan Beesley, Judy Kirk, Juliet D. French, Kathy Tucker, Kathy H. C. Wu, Kelly‐Anne Phillips, Lara Lipton, Leslie Andrews, Elizabeth Lobb, Logan C. Walker, Maira Kentwell, Amanda B. Spurdle, Margaret C. Cummings, Margaret Gleeson, Marion Harris, Mark A. Jenkins, Mary Anne Young, Martin B. Delatycki, Mathew Wallis, Matthew Burgess, Melanie A. Price, Melissa A. Brown, Michael Bogwitz, Michael Field, Michael Friedlander, Michael Gattas, Mona Saleh, Nicholas K. Hayward, Nick Pachter, Paul A. Cohen, Pascal H. G. Duijf, Paul A. James, Peter T. Simpson, Peter C.C. Fong, Phyllis Butow, Rachael Williams, Richard Kefford, Rodney J. Scott, Rosemary L. Balleine, Sarah‐Jane Dawson, Sheau Wen Lok, Shona O’Connell, Sian Greening, Sophie Nightingale, Stacey L. Edwards, Stephen B. Fox, Sue‐Anne McLachlan, Sunil R. Lakhani, Susan N. Thomas, Yoland Antill

    Published 2018
    Get full text Get full text
    Artigo
    Save to List
    Saved in:

Search Tools: