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Frameshift mutation

Systematic genomic and translational efficiency studies of uveal melanoma

Chelsea Place Johnson, Ivana K. Kim, Bita Esmaeli, Ali Amin-Mansour, Daniel J. Treacy, Scott L. Carter, Eran Hodis, Nikhil Wagle, Sara Seepo, Xiaoxing Yu, Anne Marie Lane, Evangelos S. Gragoudas, Francisca Vazquez, Elizabeth Nickerson, Kristian Cibulskis, Aaron McKenna, Stacey B. Gabriel, Gad Getz, Eliezer M. Van Allen, Peter A. C. ‘t Hoen, Levi A. Garraway, Scott E. Woodman

published 08 Jun 2017

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Reanalysis of BRCA1/2 negative high risk ovarian cancer patients reveals novel germline risk loci and insights into missing heritability

Jaime L. Stafford, Gregory Dyson, Nancy K. Levin, Sophia Chaudhry, Rita Rosati, Hasini Kalpage, Courtney Wernette, Nancie Petrucelli, Michael S. Simon, Michael A. Tainsky

published 07 Jun 2017

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Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling

Swati Tomar, Raman Sethi, Gangadhara Sundar, Thuan Chong Quah, Boon Long Quah, Poh San Lai

published 02 Jun 2017

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Characterization of 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione resistance in pyomelanogenic Pseudomonas aeruginosa DKN343

Laura M. Ketelboeter, Sonia L. Bardy

published 01 Jun 2017

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A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family

Zhijie Niu, Yong Feng, Lingyun Mei, Jie Sun, Xueping Wang, Juncheng Wang, Zhengmao Hu, Yunpeng Dong, Hongsheng Chen, Chufeng He, Yalan Liu, Xinzhang Cai, Xuezhong Liu, Lu Jiang

published 25 May 2017

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Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome

Jian-Hong Liu, Xiu-Xiu Wei, Ang Li, Ying-Xia Cui, Xin-Yi Xia, Wei-Song Qin, Ming-Chao Zhang, Er-Zhi Gao, Jun Sun, Chun-Lin Gao, Feng-Xia Liu, Qiu-Yue Wu, Wei-Wei Li, Asan, Zhi-Hong Liu, Xiao-Jun Li

published 18 May 2017

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Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss

Amina Bakhchane, Majida Charif, Amale Bousfiha, Redouane Boulouiz, Halima Nahili, Hassan Rouba, Hicham Charoute, Guy Lenaers, Abdelhamid Barakat

published 04 May 2017

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New NR5A1 mutations and phenotypic variations of gonadal dysgenesis

Ralf Werner, Isabel Mönig, Ralf Lünstedt, Lutz Wünsch, Christoph Thorns, Benedikt Reiz, Alexandra Krause, Karl Otfried Schwab, Gerhard Binder, Paul-Martin Holterhus, Olaf Hiort

published 01 May 2017

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Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing

Meng Yu, Yiming Zheng, Suqin Jin, Qiang Gang, Qingqing Wang, Peng Yu, He Lv, Wei Zhang, Yun Yuan, Zhaoxia Wang

published 12 Apr 2017

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Investigation of mutations in the HBB gene using the 1,000 genomes database

Tânia Carlice-dos-Reis, Jaime Viana, Fabiano Cordeiro Moreira, Greice de Lemos Cardoso, João Guerreiro, Sidney Santos, Ândrea Ribeiro-dos-Santos

published 05 Apr 2017

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Rare mutations and potentially damaging missense variants in genes encoding fibrillar collagens and proteins involved in their production are candidates for risk for preterm premature rupture of membranes

Bhavi P. Modi, Maria E. Teves, Laurel N. Pearson, Hardik I. Parikh, Piya Chaemsaithong, Nihar U. Sheth, Timothy P. York, Roberto Romero, Jerome F. Strauss III

published 27 Mar 2017

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Mechanisms of glycosylase induced genomic instability

Daniel E. Eyler, Kylie A. Burnham, Thomas E. Wilson, Patrick J. O’Brien

published 23 Mar 2017

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A spontaneous mutation in kdsD, a biosynthesis gene for 3 Deoxy-_D-manno-Octulosonic Acid, occurred in a ciprofloxacin resistant strain of Francisella tularensis and caused a high level of attenuation in murine models of tularemia

Taylor Chance, Jennifer Chua, Ronald G. Toothman, Jason T. Ladner, Jonathan E. Nuss, Jo Lynne Raymond, Fabrice V. Biot, Samandra Demons, Lynda Miller, Stephanie Halasohoris, Sherry Mou, Galina Koroleva, Sean Lovett, Gustavo Palacios, Nicholas J. Vietri, Patricia L. Worsham, Christopher K. Cote, Todd M. Kijek, Joel A. Bozue

published 22 Mar 2017

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