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Genetic testing

Signification of distal urinary acidification defects in hypocitraturic patients

Valentina Forni Ogna, Anne Blanchard, Rosa Vargas-Poussou, Adam Ogna, Stéphanie Baron, Jean-Philippe Bertocchio, Caroline Prot-Bertoye, Jérôme Nevoux, Julie Dubourg, Gérard Maruani, Margarida Mendes, Alejandro Garcia-Castaño, Cyrielle Treard, Nelly Lepottier, Pascal Houillier, Marie Courbebaisse

published 19 May 2017

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Open sharing of genomic data: Who does it and why?

Tobias Haeusermann, Bastian Greshake, Alessandro Blasimme, Darja Irdam, Martin Richards, Effy Vayena

published 09 May 2017

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Robustness of meta-analyses in finding gene × environment interactions

Gang Shi, Arye Nehorai

published 31 Mar 2017

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Young Adults’ Belief in Genetic Determinism, and Knowledge and Attitudes towards Modern Genetics and Genomics: The PUGGS Questionnaire

Rebecca Bruu Carver, Jérémy Castéra, Niklas Gericke, Neima Alice Menezes Evangelista, Charbel N. El-Hani

published 23 Jan 2017

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Clinical Utility of a Comprehensive, Whole Genome CMA Testing Platform in Pediatrics: A Prospective Randomized Controlled Trial of Simulated Patients in Physician Practices

John Peabody, Megan Martin, Lisa DeMaria, Jhiedon Florentino, David Paculdo, Michael Paul, Rena Vanzo, E. Robert Wassman, Trever Burgon

published 30 Dec 2016

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Functional Validation of an Alpha-Actinin-4 Mutation as a Potential Cause of an Aggressive Presentation of Adolescent Focal Segmental Glomerulosclerosis: Implications for Genetic Testing

Di Feng, Julia M. Steinke, Ramaswamy Krishnan, Gabriel Birrane, Martin R. Pollak

published 15 Dec 2016

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Technical Evaluation: Identification of Pathogenic Mutations in PKD1 and PKD2 in Patients with Autosomal Dominant Polycystic Kidney Disease by Next-Generation Sequencing and Use of a Comprehensive New Classification System

Moritoshi Kinoshita, Eiji Higashihara, Haruna Kawano, Ryo Higashiyama, Daisuke Koga, Takafumi Fukui, Nobuhisa Gondo, Takehiko Oka, Kozo Kawahara, Krisztina Rigo, Tim Hague, Kiyonori Katsuragi, Kimiyoshi Sudo, Masahiko Takeshi, Shigeo Horie, Kikuo Nutahara

published 11 Nov 2016

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Social Health Insurance-Based Simultaneous Screening for 154 Mutations in 19 Deafness Genes Efficiently Identified Causative Mutations in Japanese Hearing Loss Patients

Kentaro Mori, Hideaki Moteki, Maiko Miyagawa, Shin-ya Nishio, Shin-ichi Usami

published 14 Sep 2016

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Cost-Effectiveness Analysis of Different Genetic Testing Strategies for Lynch Syndrome in Taiwan

Ying-Erh Chen, Sung-Shuo Kao, Ren-Hua Chung

published 02 Aug 2016

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Quality of Life and Psychological State in Chinese Breast Cancer Patients Who Received BRCA1/2 Genetic Testing

Jiajia Qiu, Jiaqin Guan, Xiaochen Yang, Jiong Wu, Guangyu Liu, Genhong Di, Canming Chen, Yifeng Hou, Qixia Han, Zhenzhou Shen, Zhimin Shao, Zhen Hu

published 18 Jul 2016

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Calmodulin 2 Mutation N98S Is Associated with Unexplained Cardiac Arrest in Infants Due to Low Clinical Penetrance Electrical Disorders

Juan Jiménez-Jáimez, Julián Palomino Doza, Ángeles Ortega, Rosa Macías-Ruiz, Francesca Perin, M. Mar Rodríguez-Vázquez del Rey, Martín Ortiz-Genga, Lorenzo Monserrat, Roberto Barriales-Villa, Enrique Blanca, Miguel Álvarez, Luis Tercedor

published 21 Apr 2016

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Improving Decision Making about Genetic Testing in the Clinic: An Overview of Effective Knowledge Translation Interventions

France Légaré, Hubert Robitaille, Claire Gane, Jessica Hébert, Michel Labrecque, François Rousseau

published 03 Mar 2016

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Factors Motivating Individuals to Consider Genetic Testing for Type 2 Diabetes Risk Prediction

Jennifer Wessel, Jyoti Gupta, Mary de Groot

published 20 Jan 2016

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