Advertisement

Browse Subject Areas

?

Click through the PLOS taxonomy to find articles in your field.

For more information about PLOS Subject Areas, click here.

Genetic testing

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

Robustness of meta-analyses in finding gene × environment interactions

Gang Shi, Arye Nehorai

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

Rebecca Bruu Carver, Jérémy Castéra, [ ... ], Charbel N. El-Hani

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, [ ... ], Trever Burgon

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, [ ... ], Martin R. Pollak

Advertisement

Create a weekly email alert for: Genetic testing

You can change these options by clicking profile then "Alerts and Notifications"