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Robust gene expression and mutation analyses of RNA-sequencing of formalin-fixed diagnostic tumor samples 由 Stefan Graw, Richard Meier, Kay Minn, Clark Bloomer, Andrew K. Godwin, Brooke L. Fridley, Anda Vlad, Peter Beyerlein, Jeremy Chien

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The Presence of ASXL1 Mutations As Well As a Total Number of Myeloid Driver Mutations Higher Than Two Is Strongly Associated with the Diagnosis of Primary Myelofibrosis As Opposed... 由 Paulo Vidal Campregher, Ricardo Helman, Welbert Oliveira Pereira, Renato Puga, Bianca Cristina Garcia Lisbôa, Evelyn Helena Ascendino, Mariana Yasue Saito Miyagi, Sandra Nakashima Yoshida, Isabel Bello, Michelli Silva Diniz, Guilherme Fleury Perini, Tarcila Santos Datoguia, Elvira Deolinda Rodrigues Pereira Velloso, Joao Carlos Guerra, Paulo Augusto Achucarro Silveira, Nydia Strachman Bacal, Roberta Cardoso Petroni, Juliane Musacchio, Rodrigo Santucci, Ana Fernandes Schriefer, Marco Aurélio Salvino, Rodolfo Daniel de Almeida Soares, Manuela Pinto Tibúrcio, Leila Martins Perobelli, Eizabeth Xisto Souto, Danielle Leão Cordeiro de Farias, Marcia Higashi, Adriana Valente Fadel, Carolina Kassab, Leandro Padua, Patricia W Bollman, Denise da Cunha Pasqualin, Alanna Mara Pinheiro Sobreira Bezerra, Marinus de Moraes Lima, Erika MM Costa, Vinicius R. P. Mattos, Fernando Ferreira Costa, Nelson Hamerschlak, Fábio Pires de Souza Santos

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Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies 由 Avigail Beryozkin, Elia Shevah, Adva Kimchi, Liliana Mizrahi‐Meissonnier, Samer Khateb, Rinki Ratnapriya, Csilla H. Lazar, Anat Blumenfeld, Tamar Ben‐Yosef, Yitzhak Hemo, Jacob Pe’er, Eduard Averbuch, Michal Sagi, Alexis Boleda, Linn Gieser, Abraham Zlotogorski, Tzipora C. Falik‐Zaccai, Ola Alimi-Kasem, Samuel G. Jacobson, Itay Chowers, Anand Swaroop, Eyal Banin, Dror Sharon

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MSIseq: Software for Assessing Microsatellite Instability from Catalogs of Somatic Mutations 由 Mi Ni Huang, John R. McPherson, Ioana Cutcutache, Bin Tean Teh, Patrick Tan, Steve Rozen

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Clinical Tumor Sequencing: Opportunities and Challenges for Precision Cancer Medicine 由 Senthilkumar Damodaran, Michael F. Berger, Sukla Roychowdhury

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Personalized therapy for breast cancer 由 Francine B. de Abreu, Gary N. Schwartz, Wendy A. Wells, Gregory J. Tsongalis

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STAG3 truncating variant as the cause of primary ovarian insufficiency 由 Polona Le Quesne Stabej, Hywel Williams, Chela James, Mehmet Tekman, Horia Stanescu, Robert Kleta, Louise Ocaka, Francesco Lescai, Helen L. Storr, Maria Bitner‐Glindzicz, Chiara Bacchelli, Gerard S. Conway

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Loss-of-function variants in HIVEP2 are a cause of intellectual disability 由 Siddharth Srivastava, Hartmut Engels, Ina Schanze, Kirsten Cremer, Thomas Wieland, Moritz Menzel, Max Schubach, Saskia Biskup, Martina Kreiß, Sabine Endele, Tim M. Strom, Dagmar Wieczorek, Martin Zenker, Siddharth Gupta, Julie S. Cohen, Alexander M. Zink, Sakkubai Naidu

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<i>WDR73</i>Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease 由 Julia Vodopiutz, Rainer Seidl, Daniela Prayer, Muhammad Imran Khan, Johannes A. Mayr, Berthold Streubel, Jens-Oliver Steiß, Andreas Hahn, Dagmar Csaicsich, Christel Castro, Mirna Assoum, Thomas Müller, Dagmar Wieczorek, Grazia M.S. Mancini, Carolin E. Sadowski, Nicolas Lévy, André Mégarbané, Koumudi Godbole, Denny Schanze, Friedhelm Hildebrandt, Valérie Delague, Andreas Janecke, Martin Zenker

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Defects in Nicotinamide-adenine Dinucleotide Phosphate Oxidase Genes NOX1 and DUOX2 in Very Early Onset Inflammatory Bowel Disease 由 Patti Hayes, Sandeep Dhillon, Kim O’Neill, Cornelia Thoeni, Ken Y. Hui, Abdul Elkadri, Conghui Guo, Lidija Kovačič, Gabriella Aviello, Luis Álvarez, Anne M. Griffiths, Scott B. Snapper, Steven R. Brant, James H. Doroshow, Mark S. Silverberg, Inga Peter, Dermot McGovern, Judy H. Cho, John H. Brumell, Holm H. Uhlig, Billy Bourke, Aleixo A Muise, Ulla G. Knaus

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Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center’s Experience 由 C. Alexander Valencia, Ammar Husami, Jennifer Holle, Judith A. Johnson, Yaping Qian, Abhinav Mathur, Chao Wei, Subba Rao Indugula, Fanggeng Zou, Haiying Meng, Lijun Wang, Xia Li, Rachel S. Fisher, Tony Tan, Amber Begtrup, Kathleen Collins, Katie Wusik, Derek Neilson, Thomas Andrew Burrow, Elizabeth K. Schorry, Robert J. Hopkin, Mehdi Keddache, John B. Harley, Kenneth M. Kaufman, Kejian Zhang

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Genetics of cleft lip and cleft palate 由 Elizabeth J. Leslie, Mary L. Marazita

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Mutations in human IFT140 cause non-syndromic retinal degeneration 由 Mingchu Xu, Lizhu Yang, Feng Wang, Huajin Li, Xia Wang, Weichen Wang, Zhongqi Ge, Keqing Wang, Li Zhao, Hui Li, Yumei Li, Ruifang Sui, Rui Chen

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Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families 由 Hanan E. Shamseldin, Maha Tulbah, Wesam Kurdi, Maha Nemer, Nada Alsahan, Elham Al Mardawi, Ola Khalifa, Amal Hashem, Ahmed M Kurdi, Zainab Babay, Dalal Bubshait, Niema Ibrahim, Firdous Abdulwahab, Zuhair Rahbeeni, Mais Hashem, Fowzan S. Alkuraya

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Mutations in gamma adducin are associated with inherited cerebral palsy 由 Michael C. Kruer, Tyler Jepperson, Sudeshna Dutta, Robert D. Steiner, Ellen Cottenie, Lynn Sanford, Mark Merkens, Barry S. Russman, Peter A. Blasco, Guang Fan, Jeffrey M. Pollock, Sarah Green, Randall L. Woltjer, Catherine Mooney, Doris Kretzschmar, Coro Paisán‐Ruiz, Henry Houlden

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Brief Report: Cryopyrin‐Associated Periodic Syndrome Caused by a Myeloid‐Restricted Somatic <i>NLRP3</i> Mutation 由 Qing Zhou, Ivona Aksentijevich, Geryl Wood, Avram Walts, Patrycja Hoffmann, Elaine F. Remmers, Daniel L. Kastner, Amanda K. Ombrello

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Leveraging the Power of High Performance Computing for Next Generation Sequencing Data Analysis: Tricks and Twists from a High Throughput Exome Workflow 由 Amit Kawalia, Susanne Motameny, Stephan Wonczak, Hölger Thiele, Lech Nieroda, Kamel Jabbari, Stefan Borowski, Vishal Sinha, Wilfried Gunia, Ulrich Lang, Viktor Achter, Peter Nürnberg

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Identification of driver genes in hepatocellular carcinoma by exome sequencing 由 Sean P. Cleary, William R. Jeck, Xiaobei Zhao, Kui Chen, Sara R. Selitsky, Gleb L. Savich, Ting Xu Tan, Michael C. Wu, Gad Getz, Michael S. Lawrence, Joel S. Parker, Jinyu Li, Scott Powers, Hyeja Kim, Sandra E. Fischer, Maha Guindi, Anand Ghanekar, Derek Y. Chiang

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Mutational profiles in triple-negative breast cancer defined by ultradeep multigene sequencing show high rates of PI3K pathway alterations and clinically relevant entity subgroup s... 由 Mark Kriegsmann, Volker Endris, Thomas Wolf, Nicole Pfarr, Albrecht Stenzinger, Sibylle Loibl, Carsten Denkert, Andreas Schneeweiß, Jan Budczies, Hans‐Peter Sinn, Wilko Weichert

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Mendel,MD: a user-friendly online program for clinical exome analysis 由 Raony Guimarães Corrêa Do Carmo Lis Cardenas, Natália D. Linhares, Sérgio D.J. Pena

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