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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

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, [ ... ], Thomas G. Schulze

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, [ ... ], on behalf of the Cardiac Inherited Disease Group New Zealand

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

Anne T. Berg, Samya Chakravorty, [ ... ], Madhuri Hegde

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

Tina Likar, Mensuda Hasanhodžić, [ ... ], Karin Writzl

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

Laura Ortega-Moreno, Beatriz G. Giráldez, [ ... ], Grupo Español de Genética de las Epilepsias de la Infancia (GEGEI)

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, [ ... ], Patricia Ashton-Prolla

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

Philipp Harter, Jan Hauke, [ ... ], Rita Schmutzler

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

Stéphanie De Rechter, Jonathan Kringen, [ ... ], Djalila Mekahli

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, [ ... ], Andreas Bollmann

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, [ ... ], Claire Julian-Reynier

Signification of distal urinary acidification defects in hypocitraturic patients

Valentina Forni Ogna, Anne Blanchard, [ ... ], Marie Courbebaisse

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

Tobias Haeusermann, Bastian Greshake, [ ... ], Effy Vayena

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