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Mutation

Whole Exome Sequencing of Growing and Non-Growing Cutaneous Neurofibromas from a Single Patient with Neurofibromatosis Type 1

Daniel L. Faden, Saurabh Asthana, Tarik Tihan, Joseph DeRisi, Michel Kliot

published 18 Jan 2017

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Polymorphisms and Mutational Covariation Associated with Death in a Prospective Cohort of HIV/AIDS Patients Receiving Long-Term ART in China

Pengtao Liu, Yi Feng, Jianjun Wu, Suian Tian, Bin Su, Zhe Wang, Lingjie Liao, Hui Xing, Yinghui You, Yiming Shao, Yuhua Ruan

published 18 Jan 2017

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Different Phenotypes of the Two Chinese Probands with the Same c.889G>A (p.C162Y) Mutation in COCH Gene Verify Different Mechanisms Underlying Autosomal Dominant Nonsyndromic Deafness 9

Qi Wang, Peipei Fei, Hongbo Gu, Yanmei Zhang, Xiaomei Ke, Yuhe Liu

published 18 Jan 2017

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Rare Synaptogenesis-Impairing Mutations in SLITRK5 Are Associated with Obsessive Compulsive Disorder

Minseok Song, Carol A. Mathews, S. Evelyn Stewart, Sergey V. Shmelkov, Jason G. Mezey, Juan L. Rodriguez-Flores, Steven A. Rasmussen, Jennifer C. Britton, Yong-Seok Oh, John T. Walkup, Francis S. Lee, Charles E. Glatt

published 13 Jan 2017

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Genetic and Clinical Analyses of DOA and LHON in 304 Chinese Patients with Suspected Childhood-Onset Hereditary Optic Neuropathy

Yadi Li, Jie Li, Xiaoyun Jia, Xueshan Xiao, Shiqiang Li, Xiangming Guo

published 12 Jan 2017

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Deletion of ssnA Attenuates the Pathogenicity of Streptococcus suis and Confers Protection against Serovar 2 Strain Challenge

Miao Li, Ru-Jian Cai, Chun-Ling Li, Shuai Song, Yan Li, Zhi-Yong Jiang, Dong-Xia Yang

published 12 Jan 2017

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Assessment of a 96-Well Plate Assay of Quantitative Drug Susceptibility Testing for Mycobacterium Tuberculosis Complex in China

Hui Xia, Yang Zheng, Bing Zhao, Susan van den Hof, Frank Cobelens, YanLin Zhao

published 12 Jan 2017

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Sensitization of TRPA1 by Protein Kinase A

Jannis E. Meents, Michael J. M. Fischer, Peter A. McNaughton

published 11 Jan 2017

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Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families

Caroline Van Cauwenbergh, Frauke Coppieters, Dimitri Roels, Sarah De Jaegere, Helena Flipts, Julie De Zaeytijd, Sophie Walraedt, Charlotte Claes, Erik Fransen, Guy Van Camp, Fanny Depasse, Ingele Casteels, Thomy de Ravel, Bart P. Leroy, Elfride De Baere

published 11 Jan 2017

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The Effect of a Novel c.820C>T (Arg274Trp) Mutation in the Mitofusin 2 Gene on Fibroblast Metabolism and Clinical Manifestation in a Patient

Małgorzata Beręsewicz, Anna Boratyńska-Jasińska, Łukasz Charzewski, Maria Kawalec, Dagmara Kabzińska, Andrzej Kochański, Krystiana A. Krzyśko, Barbara Zabłocka

published 11 Jan 2017

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Identification of a Novel Mutation in BRD4 that Causes Autosomal Dominant Syndromic Congenital Cataracts Associated with Other Neuro-Skeletal Anomalies

Hyun-Seok Jin, Jeonhyun Kim, Woori Kwak, Hyeonsoo Jeong, Gyu-Bin Lim, Cha Gon Lee

published 11 Jan 2017

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Accurate Breakpoint Mapping in Apparently Balanced Translocation Families with Discordant Phenotypes Using Whole Genome Mate-Pair Sequencing

Constantia Aristidou, Costas Koufaris, Athina Theodosiou, Mads Bak, Mana M. Mehrjouy, Farkhondeh Behjati, George Tanteles, Violetta Christophidou-Anastasiadou, Niels Tommerup, Carolina Sismani

published 10 Jan 2017

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Examining Sources of Error in PCR by Single-Molecule Sequencing

Vladimir Potapov, Jennifer L. Ong

published 06 Jan 2017

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