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Frameshift mutation

Novel genetic mutations detected by multigene panel are associated with hereditary colorectal cancer predisposition

Lorena Martin-Morales, Paula Rofes, Eduardo Diaz-Rubio, Patricia Llovet, Victor Lorca, Inmaculada Bando, Pedro Perez-Segura, Miguel de la Hoya, Pilar Garre, Vanesa Garcia-Barberan, Trinidad Caldes

published 26 Sep 2018

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Clinical molecular testing for ASXL1 c.1934dupG p.Gly646fs mutation in hematologic neoplasms in the NGS era

Santiago Montes-Moreno, Mark J. Routbort, Elijah J. Lohman, Bedia A. Barkoh, Rashmi Kanagal-Shamanna, Carlos E. Bueso-Ramos, Rajesh R. Singh, L. Jeffrey Medeiros, Raja Luthra, Keyur P. Patel

published 17 Sep 2018

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Prevalence and spectrum of AKT1, PIK3CA, PTEN and TP53 somatic mutations in Chinese breast cancer patients

Guoli Li, Xinwu Guo, Ming Chen, Lili Tang, Hui Jiang, Julia X. Day, Yueliang Xie, Limin Peng, Xunxun Xu, Jinliang Li, Shouman Wang, Zhi Xiao, Lizhong Dai, Jun Wang

published 13 Sep 2018

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Differences in the viral genome between HPV-positive cervical and oropharyngeal cancer

Bailey A. LeConte, Peter Szaniszlo, Susan M. Fennewald, Dianne I. Lou, Suimin Qiu, Nai-Wei Chen, John H. Lee, Vicente A. Resto

published 30 Aug 2018

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Genetic heterogeneity and mutational signature in Chinese Epstein-Barr virus-positive diffuse large B-cell lymphoma

Fang Liu, Zhe Wang, Xiaoge Zhou, Qing Liu, Gang Chen, Hualiang Xiao, Weihua Yin, Shigeo Nakamura, Huilan Rao

published 14 Aug 2018

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BRCA1 founder mutations and beyond in the Polish population: A single-institution BRCA1/2 next-generation sequencing study

Artur Kowalik, Monika Siołek, Janusz Kopczyński, Kamila Krawiec, Joanna Kalisz, Sebastian Zięba, Beata Kozak-Klonowska, Elżbieta Wypiórkiewicz, Jowita Furmańczyk, Ewelina Nowak-Ozimek, Małgorzata Chłopek, Paweł Macek, Jolanta Smok-Kalwat, Stanisław Góźdź

published 24 Jul 2018

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Understanding variable disease severity in X-linked retinoschisis: Does RS1 secretory mechanism determine disease severity?

Dhandayuthapani Sudha, Srividya Neriyanuri, Ramya Sachidanandam, Srikrupa N. Natarajan, Mamatha Gandra, Arokiasamy Tharigopala, Muthukumaran Sivashanmugam, Mohammed Alameen, Umashankar Vetrivel, Lingam Gopal, Vikas Khetan, Rajiv Raman, Parveen Sen, Subbulakshmi Chidambaram, Jayamuruga Pandian Arunachalam

published 31 May 2018

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ENTPRISE-X: Predicting disease-associated frameshift and nonsense mutations

Hongyi Zhou, Mu Gao, Jeffrey Skolnick

published 03 May 2018

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Systematic evaluation of a targeted gene capture sequencing panel for molecular diagnosis of retinitis pigmentosa

Hui Huang, Yanhua Chen, Huishuang Chen, Yuanyuan Ma, Pei-Wen Chiang, Jing Zhong, Xuyang Liu, Asan, Jing Wu, Yan Su, Xin Li, Jianlian Deng, Yingping Huang, Xinxin Zhang, Yang Li, Ning Fan, Ying Wang, Lihui Tang, Jinting Shen, Meiyan Chen, Xiuqing Zhang, Deng Te, Santasree Banerjee, Hui Liu, Ming Qi, Xin Yi

published 11 Apr 2018

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ARMC5 mutations in familial and sporadic primary bilateral macronodular adrenal hyperplasia

Liping Yu, Junqing Zhang, Xiaohui Guo, Xiaoyu Chen, Zhisong He, Qun He

published 25 Jan 2018

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Acute multi-sgRNA knockdown of KEOPS complex genes reproduces the microcephaly phenotype of the stable knockout zebrafish model

Tilman Jobst-Schwan, Johanna Magdalena Schmidt, Ronen Schneider, Charlotte A. Hoogstraten, Jeremy F. P. Ullmann, David Schapiro, Amar J. Majmundar, Amy Kolb, Kaitlyn Eddy, Shirlee Shril, Daniela A. Braun, Annapurna Poduri, Friedhelm Hildebrandt

published 18 Jan 2018

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Clinical characteristics and registry-validated extended pedigrees of germline TP53 mutation carriers in Denmark

Ulrik Stoltze, Anne-Bine Skytte, Henriette Roed, Henrik Hasle, Bent Ejlertsen, Thomas van Overeem Hansen, Kjeld Schmiegelow, Anne-Marie Gerdes, Karin Wadt

published 11 Jan 2018

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Identification of metastasis driver genes by massive parallel sequencing of successive steps of breast cancer progression

Anne Bruun Krøigård, Martin Jakob Larsen, Anne-Vibeke Lænkholm, Ann S. Knoop, Jeanette Dupont Jensen, Martin Bak, Jan Mollenhauer, Mads Thomassen, Torben A. Kruse

published 02 Jan 2018

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