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Genetic testing

To test or not to test? Study protocol for a best-worst scaling to understand decision-making and preferences for genetic testing in moderate-risk individuals

Carina Oedingen, Nicolle Hua, [ ... ], Deborah A. Marshall

Genetic testing in individuals with extreme HDL-C levels: Diagnostic yield and clinical implications from the Tromsø Study

Åsa Schawlann Ølnes, Marianne Teigen, [ ... ], Katrine Bjune

Prevalence and genotypic distribution of non-epidermolytic ichthyosis in Italian Golden Retrievers

Maria Grazia De Iorio, Michele Polli, [ ... ], Giulietta Minozzi

WGS identifies Lynch syndrome (LS) patients and uncovers a large family with MSH2-related LS in Southern Thailand

Worrawit Wanitsuwan, Kanet Kanjanapradit, [ ... ], Sukanya Horpaopan

Awareness, attitudes, and barriers toward Transthyretin Amyloid Cardiomyopathy in Latin America: A questionnaire-based cross-sectional study

Cecilia Camacho-Hubner, Marcia Waddington-Cruz, [ ... ], Guilherme Silva Julian

Genetic yield of next-generation sequencing for detecting monogenic familial hypercholesterolemia in uzbek patients with coronary artery disease

Rano B. Alieva, Aleksandr B. Shek, [ ... ], Dilnora B. Yusupalieva

Parental acceptability of newborn screening expansion in the genomic era: A nationwide French survey informed by the Theoretical Framework of Acceptability (SeDeN-p3)

Camille Level, Laurence Faivre, [ ... ], Christine Peyron

A clinical pilot study for personalized risk-based breast cancer screening utilizing a polygenic risk score

Tone Hovda, Siim Sober, [ ... ], Kristine Kleivi Sahlberg

The impact of uncertainty on disclosure of prenatal exome sequencing results: A vignette study among medical students

Jasmijn E. Klapwijk, Vyne Van der Schoot, [ ... ], Sam R. Riedijk

Performance of PREMM5, clinical criteria, and immunohistochemistry for MMR proteins in genetic risk assessment of Mexican patients with colorectal cancer

José Luis Rodríguez-Olivares, Dione Aguilar-y-Méndez, [ ... ], Yanin Chávarri-Guerra

The changing landscape of Fabry disease: Impact of the inclusion of the GLA-gene in broader NGS or WES based panels on the phenotypic spectrum

Laura van Dussen, Emilie V. Albers, [ ... ], Mirjam Langeveld

Modelling breeding strategies against genetic defects in a vulnerable cattle breed

Ebba Gustafsson, Anna M. Johansson, Martin Johnsson

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