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Nonsense mutation

Polymorphisms in K13 and Falcipain-2 Associated with Artemisinin Resistance Are Not Prevalent in Plasmodium falciparum Isolated from Ugandan Children

Melissa D. Conrad, Victor Bigira, James Kapisi, Mary Muhindo, Moses R. Kamya, Diane V. Havlir, Grant Dorsey, Philip J. Rosenthal

published 21 Aug 2014

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Gene-Specific Function Prediction for Non-Synonymous Mutations in Monogenic Diabetes Genes

Quan Li, Xiaoming Liu, Richard A. Gibbs, Eric Boerwinkle, Constantin Polychronakos, Hui-Qi Qu

published 19 Aug 2014

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The Mutational Spectrum of Lynch Syndrome in Cyprus

Maria A. Loizidou, Ioanna Neophytou, Demetris Papamichael, Panteleimon Kountourakis, Vassilios Vassiliou, Yiola Marcou, Eleni Kakouri, Georgios Ioannidis, Chrystalla Philippou, Elena Spanou, George A. Tanteles, Violetta Anastasiadou, Andreas Hadjisavvas, Kyriacos Kyriacou

published 18 Aug 2014

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Targeted Next-Generation Sequencing Reveals Novel USH2A Mutations Associated with Diverse Disease Phenotypes: Implications for Clinical and Molecular Diagnosis

Xue Chen, Xunlun Sheng, Xiaoxing Liu, Huiping Li, Yani Liu, Weining Rong, Shaoping Ha, Wenzhou Liu, Xiaoli Kang, Kanxing Zhao, Chen Zhao

published 18 Aug 2014

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Mutation Screening of Retinal Dystrophy Patients by Targeted Capture from Tagged Pooled DNAs and Next Generation Sequencing

Christopher M. Watson, Mohammed El-Asrag, David A. Parry, Joanne E. Morgan, Clare V. Logan, Ian M. Carr, Eamonn Sheridan, Ruth Charlton, Colin A. Johnson, Graham Taylor, Carmel Toomes, Martin McKibbin, Chris F. Inglehearn, Manir Ali

published 18 Aug 2014

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Association of CHRDL1 Mutations and Variants with X-linked Megalocornea, Neuhäuser Syndrome and Central Corneal Thickness

Alice E. Davidson, Sek-Shir Cheong, Pirro G. Hysi, Cristina Venturini, Vincent Plagnol, Jonathan B. Ruddle, Hala Ali, Nicole Carnt, Jessica C. Gardner, Hala Hassan, Else Gade, Lisa Kearns, Anne Marie Jelsig, Marie Restori, Tom R. Webb, David Laws, Michael Cosgrove, Jens M. Hertz, Isabelle Russell-Eggitt, Daniela T. Pilz, Christopher J. Hammond, Stephen J. Tuft, Alison J. Hardcastle

published 05 Aug 2014

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Novel Compound Heterozygous Mutations in MYO7A Associated with Usher Syndrome 1 in a Chinese Family

Xue Gao, Guo-Jian Wang, Yong-Yi Yuan, Feng Xin, Ming-Yu Han, Jing-Qiao Lu, Hui Zhao, Fei Yu, Jin-Cao Xu, Mei-Guang Zhang, Jiang Dong, Xi Lin, Pu Dai

published 31 Jul 2014

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Identification of Novel GRM1 Mutations and Single Nucleotide Polymorphisms in Prostate Cancer Cell Lines and Tissues

Shafat Ali, Mojgan Shourideh, Shahriar Koochekpour

published 25 Jul 2014

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Detecting Novel Genetic Variants Associated with Isoniazid-Resistant Mycobacterium tuberculosis

Sandhya Shekar, Zhen Xuan Yeo, Joshua C. L. Wong, Maurice K. L. Chan, Danny C. T. Ong, Pumipat Tongyoo, Sin-Yew Wong, Ann S. G. Lee

published 15 Jul 2014

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New Splice Site Acceptor Mutation in AIRE Gene in Autoimmune Polyendocrine Syndrome Type 1

Mireia Mora, Felicia A. Hanzu, Marta Pradas-Juni, Gloria B. Aranda, Irene Halperin, Manuel Puig-Domingo, Sira Aguiló, Eduardo Fernández-Rebollo

published 02 Jul 2014

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Integrated Analysis of Mutation Data from Various Sources Identifies Key Genes and Signaling Pathways in Hepatocellular Carcinoma

Yuannv Zhang, Zhaoping Qiu, Lin Wei, Ruqi Tang, Baofeng Lian, Yingjun Zhao, Xianghuo He, Lu Xie

published 02 Jul 2014

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Genetic Spectrum of Autosomal Recessive Non-Syndromic Hearing Loss in Pakistani Families

Sobia Shafique, Saima Siddiqi, Margit Schraders, Jaap Oostrik, Humaira Ayub, Ammad Bilal, Muhammad Ajmal, Celia Zazo Seco, Tim M. Strom, Atika Mansoor, Kehkashan Mazhar, Syed Tahir A. Shah, Alamdar Hussain, Maleeha Azam, Hannie Kremer, Raheel Qamar

published 20 Jun 2014

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Whole Exome Sequencing Identifies New Causative Mutations in Tunisian Families with Non-Syndromic Deafness

Zied Riahi, Crystel Bonnet, Rim Zainine, Malek Louha, Yosra Bouyacoub, Nadia Laroussi, Mariem Chargui, Rym Kefi, Laurence Jonard, Imen Dorboz, Jean-Pierre Hardelin, Sihem Belhaj Salah, Jacqueline Levilliers, Dominique Weil, Kenneth McElreavey, Odile Tanguy Boespflug, Ghazi Besbes, Sonia Abdelhak, Christine Petit

published 13 Jun 2014

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