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Genetic testing

Views of ophthalmologists on the genetics of age-related macular degeneration: Results of a qualitative study

Julika Loss, Daniel Müller, Johannes Weigl, Horst Helbig, Caroline Brandl, Iris M. Heid, Robert P. Finger, Bernhard H. F. Weber, Janina Curbach

published 20 Dec 2018

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The magnitude of Yo-Yo test improvements following an aerobic training intervention are associated with total genotype score

C. Pickering, J. Kiely, B. Suraci, D. Collins

published 28 Nov 2018

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Workload measurement for molecular genetics laboratory: A survey study

Enrico Tagliafico, Isabella Bernardis, Marina Grasso, Maria Rosaria D’Apice, Cristina Lapucci, Annalisa Botta, Daniela Francesca Giachino, Maria Marinelli, Paola Primignani, Silvia Russo, Ilaria Sani, Manuela Seia, Sergio Fini, Paola Rimessi, Elena Tenedini, Anna Ravani, Maurizio Genuardi, Alessandra Ferlini, on behalf of the Molecular Genetics Working Group of the Italian Society of Human Genetics, SIGU

published 27 Nov 2018

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Catecholaminergic polymorphic ventricular tachycardia patients with multiple genetic variants in the PACES CPVT Registry

Thomas M. Roston, Omid Haji-Ghassemi, Martin J. LaPage, Anjan S. Batra, Yaniv Bar-Cohen, Chris Anderson, Yung R. Lau, Kathleen Maginot, Roman A. Gebauer, Susan P. Etheridge, James E. Potts, Filip Van Petegem, Shubhayan Sanatani

published 07 Nov 2018

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A systematic literature review of individuals’ perspectives on privacy and genetic information in the United States

Ellen W. Clayton, Colin M. Halverson, Nila A. Sathe, Bradley A. Malin

published 31 Oct 2018

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A canine identity crisis: Genetic breed heritage testing of shelter dogs

Lisa M. Gunter, Rebecca T. Barber, Clive D. L. Wynne

published 23 Aug 2018

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Clinical reassessment of human embryo ploidy status between cleavage and blastocyst stage by Next Generation Sequencing

Alberto Liñán, Barbara Lawrenz, Ibrahim El Khatib, Asina Bayram, Ana Arnanz, Carmen Rubio, Rupali Chopra, Human M. Fatemi

published 22 Aug 2018

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A hierarchical Bayesian model to predict APOE4 genotype and the age of Alzheimer’s disease onset

Francis Hane, Carolyn Augusta, Owen Bai

published 12 Jul 2018

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Genomic information and a person’s right not to know: A closer look at variations in hypothetical informational preferences in a German sample

Laura Flatau, Markus Reitt, Gunnar Duttge, Christian Lenk, Barbara Zoll, Wolfgang Poser, Alexandra Weber, Urs Heilbronner, Marcella Rietschel, Jana Strohmaier, Rebekka Kesberg, Jonas Nagel, Thomas G. Schulze

published 20 Jun 2018

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Long QT molecular autopsy in sudden unexplained death in the young (1-40 years old): Lessons learnt from an eight year experience in New Zealand

Luciana Marcondes, Jackie Crawford, Nikki Earle, Warren Smith, Ian Hayes, Paul Morrow, Tom Donoghue, Amanda Graham, Donald Love, Jonathan R. Skinner, on behalf of the Cardiac Inherited Disease Group New Zealand

published 19 Apr 2018

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Why West? Comparisons of clinical, genetic and molecular features of infants with and without spasms

Anne T. Berg, Samya Chakravorty, Sookyong Koh, Zachary M. Grinspan, Renée A. Shellhaas, Russell P. Saneto, Elaine C. Wirrell, Jason Coryell, Catherine J. Chu, John R. Mytinger, William D. Gaillard, Ignacio Valencia, Kelly G. Knupp, Tobias Loddenkemper, Joseph E. Sullivan, Annapurna Poduri, John J. Millichap, Cynthia Keator, Courtney Wusthoff, Nicole Ryan, William B. Dobyns, Madhuri Hegde

published 08 Mar 2018

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Diagnostic outcomes of exome sequencing in patients with syndromic or non-syndromic hearing loss

Tina Likar, Mensuda Hasanhodžić, Nataša Teran, Aleš Maver, Borut Peterlin, Karin Writzl

published 02 Jan 2018

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Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes

Laura Ortega-Moreno, Beatriz G. Giráldez, Victor Soto-Insuga, Rebeca Losada-Del Pozo, María Rodrigo-Moreno, Cristina Alarcón-Morcillo, Gema Sánchez-Martín, Esther Díaz-Gómez, Rosa Guerrero-López, José M. Serratosa, Grupo Español de Genética de las Epilepsias de la Infancia (GEGEI)

published 30 Nov 2017

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