Rezultati - Leora Witkowski

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  1. 1
    Molecular analyses reveal close similarities between small cell carcinoma of the ovary, hypercalcemic type and atypical teratoid/rhabdoid tumor

    Molecular analyses reveal close similarities between small cell carcinoma of the ovary, hypercalcemic type and atypical teratoid/rhabdoid tumor od Somayyeh Fahiminiya, Leora Witkowski, Javad Nadaf, Jian Carrot‐Zhang, Catherine Goudie, Martin Hasselblatt, Pascal D. Johann, Marcel Kool, Ryan S. Lee, Tenzin Gayden, Charles W.M. Roberts, Jaclyn A. Biegel, Nada Jabado, Jacek Majewski, William D. Foulkes

    Izdano 2015
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  2. 2
    DICER1 hotspot mutations in non-epithelial gonadal tumours

    DICER1 hotspot mutations in non-epithelial gonadal tumours od Leora Witkowski, James Mattina, Stefan Schönberger, Matthew J. Murray, David G. Huntsman, J. S. Reis-Filho, W. Glenn McCluggage, James C. Nicholson, Nicholas Coleman, Gabriele Calaminus, Dominik T. Schneider, Jocelyne Arseneau, Colin J.R. Stewart, William D. Foulkes

    Izdano 2013
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  3. 3
    Malignant teratoid tumor of the thyroid gland: an aggressive primitive multiphenotypic malignancy showing organotypical elements and frequent DICER1 alterations—is the term “thyroblastoma” more appropriate?

    Malignant teratoid tumor of the thyroid gland: an aggressive primitive multiphenotypic malignancy showing organotypical elements and frequent DICER1 alterations—is the term “thyrob... od Abbas Agaimy, Leora Witkowski, Robert Stoehr, Joseph Christopher Castillo Cuenca, Carlos Alberto González-Muller, A Brütting, Markus Bährle, Konstantinos Mantsopoulos, Randa Mahmoud Sobhy Amin, Arndt Hartmann, Markus Metzler, Samir S. Amr, William D. Foulkes, Manuel Sobrinho‐Simões, Catarina Eloy

    Izdano 2020
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  4. 4
    Loss of SMARCA4 (BRG1) protein expression as determined by immunohistochemistry in small‐cell carcinoma of the ovary, hypercalcaemic type distinguishes these tumours from their mimics

    Loss of SMARCA4 (BRG1) protein expression as determined by immunohistochemistry in small‐cell carcinoma of the ovary, hypercalcaemic type distinguishes these tumours from their mim... od Blaise Clarke, Leora Witkowski, Tuyet Nhung Ton Nu, Patricia A. Shaw, C. Blake Gilks, David G. Huntsman, Anthony N. Karnezis, Neil J. Sebire, Janez Lamovec, Lawrence M. Roth, Colin J.R. Stewart, Martin Hasselblatt, William D. Foulkes, W. Glenn McCluggage

    Izdano 2016
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  5. 5
    Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome With Disease Risk in Adults According to Family History

    Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome With Disease Risk in Adults Accordi... od Aniruddh P. Patel, Minxian Wang, Akl C. Fahed, Heather Mason‐Suares, Deanna Brockman, Renée C. Pelletier, Sami S. Amr, Kalotina Machini, Megan H. Hawley, Leora Witkowski, Christopher Koch, Anthony Philippakis, Christopher A. Cassa, Patrick T. Ellinor, Sekar Kathiresan, Kenney Ng, Matthew S. Lebo, Amit V. Khera

    Izdano 2020
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  6. 6
    Detection of Pathogenic Variants With Germline Genetic Testing Using Deep Learning vs Standard Methods in Patients With Prostate Cancer and Melanoma

    Detection of Pathogenic Variants With Germline Genetic Testing Using Deep Learning vs Standard Methods in Patients With Prostate Cancer and Melanoma od Saud H. AlDubayan, Jake R. Conway, Sabrina Y. Camp, Leora Witkowski, Eric Kofman, Brendan Reardon, Seunghun Han, Nicholas Moore, Haitham Elmarakeby, Keyan Salari, Hani Choudhry, Abdullah M. Al‐Rubaish, Abdulsalam A. Al-Sulaiman, Amein K. Al‐Ali, Amaro Taylor‐Weiner, Eliezer M. Van Allen

    Izdano 2020
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  7. 7
    Small-Cell Carcinoma of the Ovary, Hypercalcemic Type–Genetics, New Treatment Targets, and Current Management Guidelines

    Small-Cell Carcinoma of the Ovary, Hypercalcemic Type–Genetics, New Treatment Targets, and Current Management Guidelines od Marc Tischkowitz, Sidong Huang, Susana Banerjee, Jennifer Hague, William P.D. Hendricks, David G. Huntsman, Jessica D. Lang, Krystal A. Orlando, Amit M. Oza, Patricia Pautier, Isabelle Ray‐Coquard, Jeffrey M. Trent, Michael Witcher, Leora Witkowski, W. Glenn McCluggage, Douglas A. Levine, William D. Foulkes, Bernard E. Weissman

    Izdano 2020
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  8. 8
    The influence of clinical and genetic factors on patient outcome in small cell carcinoma of the ovary, hypercalcemic type

    The influence of clinical and genetic factors on patient outcome in small cell carcinoma of the ovary, hypercalcemic type od Leora Witkowski, Catherine Goudie, Pilar Ramos, Talia Boshari, Jean‐Sébastien Brunet, Anthony N. Karnezis, Michel Longy, James A. Knost, Emmanouil Saloustros, W. Glenn McCluggage, Colin J.R. Stewart, William P.D. Hendricks, Heather E. Cunliffe, David G. Huntsman, Patricia Pautier, Douglas A. Levine, Jeffrey M. Trent, Andrew Berchuck, Martin Hasselblatt, William D. Foulkes

    Izdano 2016
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  9. 9
    Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes

    Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes od Jodie Ingles, Jennifer Goldstein, Courtney Thaxton, Colleen Caleshu, Edward W. Corty, Stephanie B. Crowley, Kristen Dougherty, Steven M. Harrison, Jennifer McGlaughon, Laura V. Milko, Ana Morales, Bryce A. Seifert, Natasha T. Strande, Kate Thomson, J. Peter van Tintelen, Kathleen Wallace, Roddy Walsh, Quinn S. Wells, Nicola Whiffin, Leora Witkowski, Christopher Semsarian, James S. Ware, Ray E. Hershberger, Birgit Funke

    Izdano 2019
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  10. 10
    Specifications of the ACMG/AMP variant interpretation guidelines for germline <i>TP53</i> variants

    Specifications of the ACMG/AMP variant interpretation guidelines for germline <i>TP53</i> variants od Cristina Fortuño, Kristy Lee, Magali Olivier, Tina Pesaran, L. Phuong, Kelvin C. de Andrade, Laura D. Attardi, Stephanie B. Crowley, D. Gareth Evans, Bing Feng, Ann Katherine M. Foreman, Megan N. Frone, Robert Huether, Paul A. James, Kelly McGoldrick, Jessica L. Mester, Bryce A. Seifert, Thomas P. Slavin, Leora Witkowski, Liying Zhang, Sharon E. Plon, Amanda B. Spurdle, Sharon A. Savage

    Izdano 2020
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  11. 11
    Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline <i>CDH1</i> sequence variants

    Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline <i>CDH1</i> sequence variants od Kristy Lee, Kate Krempely, Maegan E. Roberts, Michael J. Anderson, Fátima Carneiro, Elizabeth Chao, Katherine Dixon, Joana Figueiredo, Rajarshi Ghosh, David G. Huntsman, Pardeep Kaurah, Chimene Kesserwan, Tyler Landrith, Shuwei Li, Arjen R. Mensenkamp, Carla Oliveíra, Carolina Pardo‐Díaz, Tina Pesaran, Matthew Richardson, Thomas P. Slavin, Amanda B. Spurdle, Mackenzie Trapp, Leora Witkowski, Charles Sunghoon Yi, Liying Zhang, Sharon E. Plon, Kasmintan A. Schrader, Rachid Karam

    Izdano 2018
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  12. 12
    SMARCA4/2 loss inhibits chemotherapy-induced apoptosis by restricting IP3R3-mediated Ca2+ flux to mitochondria

    SMARCA4/2 loss inhibits chemotherapy-induced apoptosis by restricting IP3R3-mediated Ca2+ flux to mitochondria od Yibo Xue, Jordan L. Morris, Kangning Yang, Zheng Qing Fu, Xianbing Zhu, Fraser Johnson, Brian Meehan, Leora Witkowski, Amber Yasmeen, Tünde Golenár, Mackenzie Coatham, Geneviève Morin, Anie Monast, Virginie Pilon, Pierre Fiset, Sungmi Jung, Anne V. Gonzalez, Sophie Camilleri‐Bröet, Lili Fu, Lynne‐Marie Postovit, Jonathan Spicer, Walter H. Gotlieb, Marie‐Christine Guiot, Janusz Rak, Morag Park, William W. Lockwood, William D. Foulkes, Julien Prudent, Sidong Huang

    Izdano 2021
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  13. 13
    CDK4/6 inhibitors target SMARCA4-determined cyclin D1 deficiency in hypercalcemic small cell carcinoma of the ovary

    CDK4/6 inhibitors target SMARCA4-determined cyclin D1 deficiency in hypercalcemic small cell carcinoma of the ovary od Yibo Xue, Brian Meehan, Elizabeth Macdonald, Sriram Venneti, Xue Qing David Wang, Leora Witkowski, Petar Jelinic, Tim Kong, Daniel Martínez, Geneviève Morin, Michelle Firlit, Atefeh Abedini, Radia Marie Johnson, Regina Cencic, Jay R. Patibandla, Hongbo Chen, Andreas I. Papadakis, Aurélie Auguste, Iris de Rink, Ron Kerkhoven, Nicholas Bertos, Walter H. Gotlieb, Blaise Clarke, Alexandra Léary, Michael Witcher, Marie‐Christine Guiot, Jerry Pelletier, Josée Dostie, Morag Park, Alexander R. Judkins, Ralf Hass, Douglas A. Levine, Janusz Rak, Barbara C. Vanderhyden, William D. Foulkes, Sidong Huang

    Izdano 2019
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  14. 14
    Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases

    Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases od Chenjie Zeng, Lisa A. Bastarache, Ran Tao, Eric Venner, Scott J. Hebbring, Justin Andujar, Harris T. Bland, David R. Crosslin, Siddharth Pratap, Ayorinde Cooley, Jennifer A. Pacheco, Kurt D. Christensen, Emma Perez, Carrie L. Blout Zawatsky, Leora Witkowski, Hana Zouk, Chunhua Weng, Kathleen A. Leppig, Patrick Sleiman, Hákon Hákonarson, Marc S. Williams, Yuan Luo, Gail P. Jarvik, Robert C. Green, Wendy K. Chung, Ali G. Gharavi, Niall J. Lennon, Heidi L. Rehm, Richard A. Gibbs, Josh F. Peterson, Dan M. Roden, Georgia L. Wiesner, Joshua C. Denny

    Izdano 2022
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  15. 15
    Frequency of genomic secondary findings among 21,915 eMERGE network participants

    Frequency of genomic secondary findings among 21,915 eMERGE network participants od Allan Gordon, Hana Zouk, Eric Venner, Christine M. Eng, Birgit Funke, Laura M. Amendola, David Carrell, Rex L. Chisholm, Wendy K. Chung, Joshua C. Denny, Alexander Fedotov, Hákon Hákonarson, Iftikhar J. Kullo, Eric B. Larson, Magalie S. Leduc, Kathleen A. Leppig, Niall J. Lennon, Jodell E. Linder, Donna M. Muzny, Cynthia A. Prows, Laura J. Rasmussen‐Torvik, Hila Milo Rasouly, Dan M. Roden, Elisabeth A. Rosenthal, Maureen E. Smith, Ian B. Stanaway, Sara L. Van Driest, Kimberly Walker, Georgia L. Wiesner, Marc S. Williams, Leora Witkowski, David R. Crosslin, Richard A. Gibbs, Heidi L. Rehm, Gail P. Jarvik

    Izdano 2020
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  16. 16
    Performance of the McGill Interactive Pediatric OncoGenetic Guidelines for Identifying Cancer Predisposition Syndromes

    Performance of the McGill Interactive Pediatric OncoGenetic Guidelines for Identifying Cancer Predisposition Syndromes od Catherine Goudie, Leora Witkowski, Noelle Cullinan, Lara Reichman, Ian Schiller, Melissa Tachdjian, Linlea Armstrong, Katherine A Blood, Josée Brossard, Ledia Brunga, Chantel Cacciotti, Kimberly Caswell, Sonia Cellot, M. Clark, Catherine Clinton, Hallie Coltin, Kathleen Felton, Conrad V. Fernandez, Adam Fleming, Noemi Fuentes-Bolanos, Paul Gibson, Ronald Grant, Rawan Hammad, Lynn W. Harrison, Meredith S. Irwin, Donna L. Johnston, Sarah Kane, Lucie Lafay‐Cousin, Irene Lara‐Corrales, Valérie Larouche, Natalie Mathews, M. Stephen Meyn, Orli Michaeli, Renée Perrier, Meghan Pike, Angela Punnett, Vijay Ramaswamy, Jemma Say, Gino R. Somers, Uri Tabori, My Linh Thibodeau, Annie-Kim Toupin, Katherine Tucker, Kalene van Engelen, Stéphanie Vairy, Nicolas Waespe, Meera Warby, Jonathan D. Wasserman, James A. Whitlock, Daniel Sinnett, Nada Jabado, Paul C. Nathan, Adam Shlien, Junne Kamihara, Rebecca Deyell, David S. Ziegler, Kim E. Nichols, Nandini Dendukuri, David Malkin, Anita Villani, William D. Foulkes

    Izdano 2021
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