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Genetic testing

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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BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer (HBOC) probands from Southern Brazil: Are international testing criteria appropriate for this specific population?

Bárbara Alemar, Cleandra Gregório, Josef Herzog, Camila Matzenbacher Bittar, Cristina Brinckmann Oliveira Netto, Osvaldo Artigalas, Ida Vanessa D. Schwartz, Jordy Coffa, Suzi Alves Camey, Jeffrey Weitzel, Patricia Ashton-Prolla

published 21 Nov 2017

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Prevalence of deleterious germline variants in risk genes including BRCA1/2 in consecutive ovarian cancer patients (AGO-TR-1)

Philipp Harter, Jan Hauke, Florian Heitz, Alexander Reuss, Stefan Kommoss, Frederik Marmé, André Heimbach, Katharina Prieske, Lisa Richters, Alexander Burges, Guido Neidhardt, Nikolaus de Gregorio, Ahmed El-Balat, Felix Hilpert, Werner Meier, Rainer Kimmig, Karin Kast, Jalid Sehouli, Klaus Baumann, Christian Jackisch, Tjoung-Won Park-Simon, Lars Hanker, Sandra Kröber, Jacobus Pfisterer, Heidrun Gevensleben, Andreas Schnelzer, Dimo Dietrich, Tanja Neunhöffer, Mathias Krockenberger, Sara Y. Brucker, Peter Nürnberg, Holger Thiele, Janine Altmüller, Josefin Lamla, Gabriele Elser, Andreas du Bois, Eric Hahnen, Rita Schmutzler

published 20 Oct 2017

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Clinicians’ attitude towards family planning and timing of diagnosis in autosomal dominant polycystic kidney disease

Stéphanie De Rechter, Jonathan Kringen, Peter Janssens, Max Christoph Liebau, Koenraad Devriendt, Elena Levtchenko, Carsten Bergmann, François Jouret, Bert Bammens, Pascal Borry, Franz Schaefer, Djalila Mekahli

published 29 Sep 2017

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Rare variants in genes encoding the cardiac sodium channel and associated compounds and their impact on outcome of catheter ablation of atrial fibrillation

Daniela Husser, Laura Ueberham, Gerhard Hindricks, Petra Büttner, Christie Ingram, Peter Weeke, M. Benjamin Shoemaker, Volker Adams, Arash Arya, Philipp Sommer, Dawood Darbar, Dan M. Roden, Andreas Bollmann

published 24 Aug 2017

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Validation of a scale for assessing attitudes towards outcomes of genetic cancer testing among primary care providers and breast specialists

Anne-Deborah Bouhnik, Khadim N’Diaye, D. Gareth Evans, Hilary Harris, Aad Tibben, Christi van Asperen, Joerg Schmidtke, Irmgard Nippert, Julien Mancini, Claire Julian-Reynier

published 01 Jun 2017

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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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