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Dideoxy DNA sequencing

Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders

Dolores González-Morón, Sebastián Vishnopolska, Damián Consalvo, Nancy Medina, Marcelo Marti, Marta Córdoba, Cecilia Vazquez-Dusefante, Santiago Claverie, Sergio Alejandro Rodríguez-Quiroga, Patricia Vega, Walter Silva, Silvia Kochen, Marcelo Andrés Kauffman

published 27 Sep 2017

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Efficient generation of mutations mediated by CRISPR/Cas9 in the hairy root transformation system of Brassica carinata

Thomas W. Kirchner, Markus Niehaus, Thomas Debener, Manfred K. Schenk, Marco Herde

published 22 Sep 2017

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Optimized detection of insertions/deletions (INDELs) in whole-exome sequencing data

Bo-Young Kim, Jung Hoon Park, Hye-Yeong Jo, Soo Kyung Koo, Mi-Hyun Park

published 09 Aug 2017

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Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy

Irene Mademont-Soler, Jesus Mates, Raquel Yotti, Maria Angeles Espinosa, Alexandra Pérez-Serra, Ana Isabel Fernandez-Avila, Monica Coll, Irene Méndez, Anna Iglesias, Bernat del Olmo, Helena Riuró, Sofía Cuenca, Catarina Allegue, Oscar Campuzano, Ferran Picó, Carles Ferrer-Costa, Patricia Álvarez, Sergio Castillo, Pablo Garcia-Pavia, Esther Gonzalez-Lopez, Laura Padron-Barthe, Aranzazu Díaz de Bustamante, María Teresa Darnaude, José Ignacio González-Hevia, Josep Brugada, Francisco Fernandez-Aviles, Ramon Brugada

published 03 Aug 2017

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Contribution of exome sequencing for genetic diagnostic in arrhythmogenic right ventricular cardiomyopathy/dysplasia

Joel Fedida, Veronique Fressart, Philippe Charron, Elodie Surget, Tiphaine Hery, Pascale Richard, Erwan Donal, Boris Keren, Guillaume Duthoit, Françoise Hidden-Lucet, Eric Villard, Estelle Gandjbakhch

published 02 Aug 2017

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Increased genetic diversity and prevalence of co-infection with Trypanosoma spp. in koalas (Phascolarctos cinereus) and their ticks identified using next-generation sequencing (NGS)

Amanda D. Barbosa, Alexander W. Gofton, Andrea Paparini, Annachiara Codello, Telleasha Greay, Amber Gillett, Kristin Warren, Peter Irwin, Una Ryan

published 13 Jul 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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Prevalence and extent of heteroresistance by next generation sequencing of multidrug-resistant tuberculosis

Darwin J. Operario, Alexander F. Koeppel, Stephen D. Turner, Yongde Bao, Suporn Pholwat, Sayera Banu, Suporn Foongladda, Stellah Mpagama, Jean Gratz, Oleg Ogarkov, Svetlana Zhadova, Scott K. Heysell, Eric R. Houpt

published 18 May 2017

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Performance of TaqMan array card to detect TB drug resistance on direct specimens

Sayera Banu, Suporn Pholwat, Suporn Foongladda, Rattapha Chinli, Duangjai Boonlert, Sara Sabrina Ferdous, S. M. Mazidur Rahman, Arfatur Rahman, Shahriar Ahmed, Eric R. Houpt

published 04 May 2017

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Inheritance patterns of ATCCT repeat interruptions in spinocerebellar ataxia type 10 (SCA10) expansions

Ivette Landrian, Karen N. McFarland, Jilin Liu, Connie J. Mulligan, Astrid Rasmussen, Tetsuo Ashizawa

published 19 Apr 2017

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Deep sequencing is an appropriate tool for the selection of unique Hepatitis C virus (HCV) variants after single genomic amplification

Thibault Guinoiseau, Alain Moreau, Guillaume Hohnadel, Nicole Ngo-Giang-Huong, Celine Brulard, Patrick Vourc’h, Alain Goudeau, Catherine Gaudy-Graffin

published 31 Mar 2017

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Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO)

Allison J. Cox, Benjamin W. Darbro, Ronald M. Laxer, Gabriel Velez, Xinyu Bing, Alexis L. Finer, Albert Erives, Vinit B. Mahajan, Alexander G. Bassuk, Polly J. Ferguson

published 16 Mar 2017

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Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach

Denise Yan, Guangxin Xiang, Xingping Chai, Jie Qing, Haiqiong Shang, Bing Zou, Rahul Mittal, Jun Shen, Richard J. H. Smith, Yao-Shan Fan, Susan H. Blanton, Mustafa Tekin, Cynthia Morton, Wanli Xing, Jing Cheng, Xue Zhong Liu

published 08 Mar 2017

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