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There are 23040 results for: content related to: Analysis of BRCA1 Variants in Double-Strand Break Repair by Homologous Recombination and Single-Strand Annealing

  1. Functional Analysis of BARD1 Missense Variants in Homology-Directed Repair of DNA Double Strand Breaks

    Human Mutation

    Volume 36, Issue 12, December 2015, Pages: 1205–1214, Cindy Lee, Tapahsama Banerjee, Jessica Gillespie, Amanda Ceravolo, Matthew R. Parvinsmith, Lea M. Starita, Stanley Fields, Amanda E. Toland and Jeffrey D. Parvin

    Version of Record online : 22 SEP 2015, DOI: 10.1002/humu.22902

  2. You have full text access to this OnlineOpen article
    Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants

    Human Mutation

    Volume 37, Issue 7, July 2016, Pages: 627–639, Maxime P. Vallée, Tonya L. Di Sera, David A. Nix, Andrew M. Paquette, Michael T. Parsons, Russel Bell, Andrea Hoffman, Frans B. L. Hogervorst, David E. Goldgar, Amanda B. Spurdle and Sean V. Tavtigian

    Version of Record online : 15 APR 2016, DOI: 10.1002/humu.22973

  3. Concurrent DNA Copy-Number Alterations and Mutations in Genes Related to Maintenance of Genome Stability in Uninvolved Mammary Glandular Tissue from Breast Cancer Patients

    Human Mutation

    Volume 36, Issue 11, November 2015, Pages: 1088–1099, Anna Ronowicz, Anna Janaszak-Jasiecka, Jarosław Skokowski, Piotr Madanecki, Rafal Bartoszewski, Magdalena Bałut, Barbara Seroczyńska, Kinga Kochan, Adam Bogdan, Małgorzata Butkus, Rafał Pęksa, Magdalena Ratajska, Alina Kuźniacka, Bartosz Wasąg, Magdalena Gucwa, Maciej Krzyżanowski, Janusz Jaśkiewicz, Zbigniew Jankowski, Lars Forsberg, J. Renata Ochocka, Janusz Limon, Michael R. Crowley, Patrick G. Buckley, Ludwine Messiaen, Jan P. Dumanski and Arkadiusz Piotrowski

    Version of Record online : 14 AUG 2015, DOI: 10.1002/humu.22845

  4. Functional Assays for Analysis of Variants of Uncertain Significance in BRCA2

    Human Mutation

    Volume 35, Issue 2, February 2014, Pages: 151–164, Lucia Guidugli, Aura Carreira, Sandrine M. Caputo, Asa Ehlen, Alvaro Galli, Alvaro N.A. Monteiro, Susan L. Neuhausen, Thomas V.O. Hansen, Fergus J. Couch, Maaike P.G. Vreeswijk and ; on behalf of the ENIGMA consortium

    Version of Record online : 3 DEC 2013, DOI: 10.1002/humu.22478

  5. Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations

    Human Mutation

    Volume 37, Issue 7, July 2016, Pages: 640–652, Natasha G. Caminsky, Eliseos J. Mucaki, Ami M. Perri, Ruipeng Lu, Joan H. M. Knoll and Peter K. Rogan

    Version of Record online : 18 MAR 2016, DOI: 10.1002/humu.22972

  6. You have full text access to this OnlineOpen article
    Novel BRCA1 and BRCA2 Tumor Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas

    Human Mutation

    Volume 38, Issue 2, February 2017, Pages: 226–235, Robbert D.A. Weren, Arjen R. Mensenkamp, Michiel Simons, Astrid Eijkelenboom, Aisha S. Sie, Hicham Ouchene, Monique van Asseldonk, Encarna B. Gomez-Garcia, Marinus J. Blok, Joanne A. de Hullu, Marcel R. Nelen, Alexander Hoischen, Johan Bulten, Bastiaan B.J. Tops, Nicoline Hoogerbrugge and Marjolijn J.L. Ligtenberg

    Version of Record online : 9 NOV 2016, DOI: 10.1002/humu.23137

  7. Somatic Alterations Contributing to Metastasis of a Castration-Resistant Prostate Cancer

    Human Mutation

    Volume 34, Issue 9, September 2013, Pages: 1231–1241, Michael L. Nickerson, Kate M. Im, Kevin J. Misner, Wei Tan, Hong Lou, Bert Gold, David W. Wells, Hector C. Bravo, Karin M. Fredrikson, Timothy T. Harkins, Patrice Milos, Berton Zbar, W. Marston Linehan, Meredith Yeager, Thorkell Andresson, Michael Dean and G. Steven Bova

    Version of Record online : 3 JUN 2013, DOI: 10.1002/humu.22346

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    Variation Interpretation Predictors: Principles, Types, Performance, and Choice

    Human Mutation

    Volume 37, Issue 6, June 2016, Pages: 579–597, Abhishek Niroula and Mauno Vihinen

    Version of Record online : 15 APR 2016, DOI: 10.1002/humu.22987

  9. A Multifactorial Likelihood Model for MMR Gene Variant Classification Incorporating Probabilities Based on Sequence Bioinformatics and Tumor Characteristics: A Report from the Colon Cancer Family Registry

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 200–209, Bryony A. Thompson, David E. Goldgar, Carol Paterson, Mark Clendenning, Rhiannon Walters, Sven Arnold, Michael T. Parsons, Walsh Michael D., Steven Gallinger, Robert W. Haile, John L. Hopper, Mark A. Jenkins, Loic LeMarchand, Noralane M. Lindor, Polly A. Newcomb, Stephen N. Thibodeau, Colon Cancer Family Registry, Joanne P. Young, Daniel D. Buchanan, Sean V. Tavtigian and Amanda B. Spurdle

    Version of Record online : 11 OCT 2012, DOI: 10.1002/humu.22213

  10. Mutants TP53 p.R273H and p.R273C but not p.R273G Enhance Cancer Cell Malignancy

    Human Mutation

    Volume 35, Issue 5, May 2014, Pages: 575–584, Jie Li, Lixin Yang, Shikha Gaur, Keqiang Zhang, Xiwei Wu, Yate-Ching Yuan, Hongzhi Li, Shuya Hu, Yaguang Weng and Yun Yen

    Version of Record online : 7 APR 2014, DOI: 10.1002/humu.22528

  11. Functional Analysis of a Large set of BRCA2 exon 7 Variants Highlights the Predictive Value of Hexamer Scores in Detecting Alterations of Exonic Splicing Regulatory Elements

    Human Mutation

    Volume 34, Issue 11, November 2013, Pages: 1547–1557, Daniela Di Giacomo, Pascaline Gaildrat, Anna Abuli, Julie Abdat, Thierry Frébourg, Mario Tosi and Alexandra Martins

    Version of Record online : 18 SEP 2013, DOI: 10.1002/humu.22428

  12. Nonoptical Massive Parallel DNA Sequencing of BRCA1 and BRCA2 Genes in a Diagnostic Setting

    Human Mutation

    Volume 34, Issue 4, April 2013, Pages: 629–635, José Luis Costa, Sónia Sousa, Ana Justino, Teresa Kay, Susana Fernandes, Luis Cirnes, Fernando Schmitt and José Carlos Machado

    Version of Record online : 11 FEB 2013, DOI: 10.1002/humu.22272

  13. You have full text access to this OnlineOpen article
    Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 57–65, Hashem A. Shihab, Julian Gough, David N. Cooper, Peter D. Stenson, Gary L. A. Barker, Keith J. Edwards, Ian N. M. Day and Tom R. Gaunt

    Version of Record online : 2 NOV 2012, DOI: 10.1002/humu.22225

  14. Mutation Update for GNE Gene Variants Associated with GNE Myopathy

    Human Mutation

    Volume 35, Issue 8, August 2014, Pages: 915–926, Frank V. Celeste, Thierry Vilboux, Carla Ciccone, John Karl de Dios, May Christine V. Malicdan, Petcharat Leoyklang, John C. McKew, William A. Gahl, Nuria Carrillo-Carrasco and Marjan Huizing

    Version of Record online : 17 JUL 2014, DOI: 10.1002/humu.22583

  15. Correlating Multiallelic Copy Number Polymorphisms with Disease Susceptibility

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 1–13, Stuart Cantsilieris and Stefan J. White

    Version of Record online : 23 AUG 2012, DOI: 10.1002/humu.22172

  16. BRCA Share: A Collection of Clinical BRCA Gene Variants

    Human Mutation

    Volume 37, Issue 12, December 2016, Pages: 1318–1328, Christophe Béroud, Stanley I. Letovsky, Corey D. Braastad, Sandrine M. Caputo, Olivia Beaudoux, Yves Jean Bignon, Brigitte Bressac-De Paillerets, Myriam Bronner, Crystal M. Buell, Gwenaëlle Collod-Béroud, Florence Coulet, Nicolas Derive, Christina Divincenzo, Christopher D. Elzinga, Céline Garrec, Claude Houdayer, Izabela Karbassi, Sarab Lizard, Angela Love, Danièle Muller, Narasimhan Nagan, Camille R. Nery, Ghadi Rai, Françoise Revillion, David Salgado, Nicolas Sévenet, Olga Sinilnikova, Hagay Sobol, Dominique Stoppa-Lyonnet, Christine Toulas, Edwin Trautman, Dominique Vaur, Paul Vilquin, Katelyn S. Weymouth, Alecia Willis, Laboratory Corporation of America Variant Classification Group, Quest Diagnostics Variant Classification Group, UNICANCER Genetic Group BRCA Laboratory Network, Marcia Eisenberg and Charles M Strom

    Version of Record online : 28 SEP 2016, DOI: 10.1002/humu.23113

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    The Mdm Network and Its Regulation of p53 Activities: A Rheostat of Cancer Risk

    Human Mutation

    Volume 35, Issue 6, June 2014, Pages: 728–737, Christine M. Eischen and Guillermina Lozano

    Version of Record online : 6 MAR 2014, DOI: 10.1002/humu.22524

  18. Genotyping by Induced Förster Resonance Energy Transfer (iFRET) Mechanism and Simultaneous Mutation Scanning

    Human Mutation

    Volume 34, Issue 4, April 2013, Pages: 636–643, Bartłomiej Masojć, Bohdan Górski, Thierry van de Wetering, Tadeusz Dębniak, Cezary Cybulski, Anna Jakubowska, Krzysztof Mędrek, Helena Rudnicka, Zachary Lawrence Dwight and Jan Lubiński

    Version of Record online : 18 FEB 2013, DOI: 10.1002/humu.22281

  19. 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

    Human Mutation

    Volume 34, Issue 10, October 2013, Pages: 1424–1431, Logan C. Walker, Phillip J. Whiley, Claude Houdayer, Thomas V. O. Hansen, Ana Vega, Marta Santamarina, Ana Blanco, Laura Fachal, Melissa C. Southey, Alan Lafferty, Mara Colombo, Giovanna De Vecchi, Paolo Radice, Amanda B. Spurdle and on behalf of the ENIGMA consortium

    Version of Record online : 13 AUG 2013, DOI: 10.1002/humu.22388

  20. TARDBP and FUS Mutations Associated with Amyotrophic Lateral Sclerosis: Summary and Update

    Human Mutation

    Volume 34, Issue 6, June 2013, Pages: 812–826, Serena Lattante, Guy A. Rouleau and Edor Kabashi

    Version of Record online : 29 APR 2013, DOI: 10.1002/humu.22319