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Frameshift mutation

Targeted Next-Generation Sequencing in Uyghur Families with Non-Syndromic Sensorineural Hearing Loss

Ying Chen, Zhentao Wang, Zhaoyan Wang, Dongye Chen, Yongchuan Chai, Xiuhong Pang, Lianhua Sun, Xiaowen Wang, Tao Yang, Hao Wu

published 26 May 2015

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Amplicon Sequencing of Colorectal Cancer: Variant Calling in Frozen and Formalin-Fixed Samples

Johannes Betge, Grainne Kerr, Thilo Miersch, Svenja Leible, Gerrit Erdmann, Christian L. Galata, Tianzuo Zhan, Timo Gaiser, Stefan Post, Matthias P. Ebert, Karoline Horisberger, Michael Boutros

published 26 May 2015

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Genetic Testing of Korean Familial Hypercholesterolemia Using Whole-Exome Sequencing

Soo Min Han, Byungjin Hwang, Tae-gun Park, Do-Il Kim, Moo-Yong Rhee, Byoung-Kwon Lee, Young Keun Ahn, Byung Ryul Cho, Jeongtaek Woo, Seung-Ho Hur, Jin-Ok Jeong, Sungha Park, Yangsoo Jang, Min Goo Lee, Duhee Bang, Ji Hyun Lee, Sang-Hak Lee

published 11 May 2015

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Exome Sequencing Identifies a Mutation in EYA4 as a Novel Cause of Autosomal Dominant Non-Syndromic Hearing Loss

Fei Liu, Jiongjiong Hu, Wenjun Xia, Lili Hao, Jing Ma, Duan Ma, Zhaoxin Ma

published 11 May 2015

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Atypical Role for PhoU in Mutagenic Break Repair under Stress in Escherichia coli

Janet L. Gibson, Mary-Jane Lombardo, Ildiko Aponyi, Diana Vera Cruz, Mellanie P. Ray, Susan M. Rosenberg

published 11 May 2015

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Analysis of Mutations in 7 Genes Associated with Neuronal Excitability and Synaptic Transmission in a Cohort of Children with Non-Syndromic Infantile Epileptic Encephalopathy

Anna Ka-Yee Kwong, Alvin Chi-Chung Ho, Cheuk-Wing Fung, Virginia Chun-Nei Wong

published 07 May 2015

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Dissecting Genomic Aberrations in Myeloproliferative Neoplasms by Multiplex-PCR and Next Generation Sequencing

Martin M. J. Kirschner, Mirle Schemionek, Claudia Schubert, Nicolas Chatain, Stephanie Sontag, Susanne Isfort, Nadina Ortiz-Brüchle, Karla Schmitt, Luisa Krüger, Klaus Zerres, Martin Zenke, Tim H. Brümmendorf, Steffen Koschmieder

published 20 Apr 2015

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Gene Editing by Co-Transformation of TALEN and Chimeric RNA/DNA Oligonucleotides on the Rice OsEPSPS Gene and the Inheritance of Mutations

Mugui Wang, Yujun Liu, Cuicui Zhang, Jianping Liu, Xin Liu, Liangchao Wang, Wenyi Wang, Hao Chen, Chuchu Wei, Xiufen Ye, Xinyuan Li, Jumin Tu

published 09 Apr 2015

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A Family with Atypical Hailey Hailey Disease- Is There More to the Underlying Genetics than ATP2C1?

Nina van Beek, Aikaterini Patsatsi, Yask Gupta, Steffen Möller, Miriam Freitag, Susanne Lemcke, Andreas Recke, Detlef Zillikens, Enno Schmidt, Saleh Ibrahim

published 02 Apr 2015

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Antithrombin III Deficiency in Indian Patients with Deep Vein Thrombosis: Identification of First India Based AT Variants Including a Novel Point Mutation (T280A) that Leads to Aggregation

Teena Bhakuni, Amit Sharma, Qudsia Rashid, Charu Kapil, Renu Saxena, Manoranjan Mahapatra, Mohamad Aman Jairajpuri

published 26 Mar 2015

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Whole Exome Sequencing Identifies Mutations in Usher Syndrome Genes in Profoundly Deaf Tunisian Patients

Zied Riahi, Crystel Bonnet, Rim Zainine, Saida Lahbib, Yosra Bouyacoub, Rym Bechraoui, Jihène Marrakchi, Jean-Pierre Hardelin, Malek Louha, Leila Largueche, Salim Ben Yahia, Moncef Kheirallah, Leila Elmatri, Ghazi Besbes, Sonia Abdelhak, Christine Petit

published 23 Mar 2015

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Canine Disorder Mirrors Human Disease: Exonic Deletion in HES7 Causes Autosomal Recessive Spondylocostal Dysostosis in Miniature Schnauzer Dogs

Cali E. Willet, Mariano Makara, George Reppas, George Tsoukalas, Richard Malik, Bianca Haase, Claire M. Wade

published 06 Feb 2015

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Whole Genome Sequencing Reveals a De Novo SHANK3 Mutation in Familial Autism Spectrum Disorder

Sergio I. Nemirovsky, Marta Córdoba, Jonathan J. Zaiat, Sabrina P. Completa, Patricia A. Vega, Dolores González-Morón, Nancy M. Medina, Mónica Fabbro, Soledad Romero, Bianca Brun, Santiago Revale, María Florencia Ogara, Adali Pecci, Marcelo Marti, Martin Vazquez, Adrián Turjanski, Marcelo A. Kauffman

published 03 Feb 2015

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