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Genetic testing

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

Thomas M. Roston, Omid Haji-Ghassemi, [ ... ], Shubhayan Sanatani

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

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

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

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

Alberto Liñán, Barbara Lawrenz, [ ... ], Human M. Fatemi

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

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