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Genetic testing

Knowledge of genetic test results among caregivers and individuals with spinal muscular atrophy

Lisa Belter, Allison Mazzella, Shannon O’Brien, Jill Jarecki

Genomic findings of hypertrophic and dilated cardiomyopathy characterized in a Thai clinical genetics service

Objoon Trachoo, Teerapat Yingchoncharoen, [ ... ], Tarinee Tangcharoen

The prevalence of the ABCB1-1Δ variant in a clinical veterinary setting: The risk of not genotyping

Evy Beckers, Iris Casselman, [ ... ], Bart J. G. Broeckx

Medicalizing risk: How experts and consumers manage uncertainty in genetic health testing

Meghna Mukherjee, Margaret Eby, [ ... ], Althea Maya Earle

Quantifying the effect of Warmblood Fragile Foal Syndrome on foaling rates in the German riding horse population

Mirell Wobbe, Friedrich Reinhardt, [ ... ], Kathrin F. Stock

A randomized controlled trial comparing self-referred message to family-referred message promoting men’s adherence to evidence-based guidelines on BRCA1/2 germline genetic testing: A registered study protocol

Serena Petrocchi, Giulia Ongaro, [ ... ], Gabriella Pravettoni

Psychosocial outcome and health behaviour intent of breast cancer patients with BRCA1/2 and PALB2 pathogenic variants unselected by a priori risk

Heamanthaa Padmanabhan, Nur Tiara Hassan, [ ... ], Sook-Yee Yoon

Exploratory content analysis of direct-to-consumer pet genomics: What is being marketed and what are consumers saying?

Nikki E. Bennett, Silvio Ernesto Mirabal Torres, Peter B. Gray

The use of heuristics in genetic testing decision-making: A qualitative interview study

Bettina Maria Zimmermann, David Martin Shaw, Bernice Elger, Insa Koné

Direct-to-consumer genetic testing: Prospective users’ attitudes toward information about ancestry and biological relationships

James W. Hazel, Catherine Hammack-Aviran, [ ... ], Ellen Wright Clayton

Performance of anti-SARS-CoV-2 antibody testing in asymptomatic or mild COVID-19 patients: A retrospective study in outbreak on a cruise ship

Norihito Kaku, Fumitaka Nishimura, [ ... ], Katsunori Yanagihara

Clinical and molecular characterization of patients fulfilling Chompret criteria for Li-Fraumeni syndrome in Southern Brazil

Camila Matzenbacher Bittar, Yasminne Marinho de Araújo Rocha, [ ... ], Patricia Ashton-Prolla

Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis

Kimberly Gall, Emanuela Izzo, [ ... ], Tero-Pekka Alastalo

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