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Genetic testing

Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy

Juha W. Koskenvuo, Inka Saarinen, Saija Ahonen, Johanna Tommiska, Sini Weckström, Eija H. Seppälä, Sari Tuupanen, Tiia Kangas-Kontio, Jennifer Schleit, Krista Heliö, Julie Hathaway, Anders Gummesson, Pia Dahlberg, Tiina H. Ojala, Ville Vepsäläinen, Ville Kytölä, Mikko Muona, Johanna Sistonen, Pertteli Salmenperä, Massimiliano Gentile, Jussi Paananen, Samuel Myllykangas, Tero-Pekka Alastalo, Tiina Heliö

published 03 Feb 2021

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Association between prostate cancer characteristics and BRCA1/2-associated family cancer history in a Japanese cohort

Yudai Ishiyama, Masaki Shimbo, Junpei Iizuka, Gautam Deshpande, Kazunari Tanabe, Kazunori Hattori

published 22 Dec 2020

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Economic impact of medical genetic testing on clinical applications in Thailand

Jiraphun Jittikoon, Sermsiri Sangroongruangsri, Montarat Thavorncharoensap, Natthakan Chitpim, Usa Chaikledkaew

published 18 Dec 2020

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Factors influencing precision medicine knowledge and attitudes

Rohini Chakravarthy, Sarah C. Stallings, Michael Williams, Megan Hollister, Mario Davidson, Juan Canedo, Consuelo H. Wilkins

published 11 Nov 2020

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The mediating effects of public genomic knowledge in precision medicine implementation: A structural equation model approach

John Jules O. Mogaka, Moses J. Chimbari

published 14 Oct 2020

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Effects of genetic information on memory for severity of depressive symptoms

Woo-kyoung Ahn, Alma Bitran, Matthew Lebowitz

published 14 Oct 2020

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Physicians communicating with women at genetic risk of breast and ovarian cancer: Are we in the middle of the ford between contradictory messages and unshared decision making?

Marta Fadda, Pierre O. Chappuis, Maria C. Katapodi, Olivia Pagani, Christian Monnerat, Véronique Membrez, Sheila Unger, Maria Caiata Zufferey

published 08 Oct 2020

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Genetic testing offer for inherited neuromuscular diseases within the EURO-NMD reference network: A European survey study

Borut Peterlin, Francesca Gualandi, Ales Maver, Serenella Servidei, Silvère M. van der Maarel, Francoise Lamy, Alexander Mejat, Teresinha Evangelista, Alessandra Ferlini

published 18 Sep 2020

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Health and kinship matter: Learning about direct-to-consumer genetic testing user experiences via online discussions

Zhijun Yin, Lijun Song, Ellen W. Clayton, Bradley A. Malin

published 08 Sep 2020

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Inequity in access to personalized medicine in France: Evidences from analysis of geo variations in the access to molecular profiling among advanced non-small-cell lung cancer patients: Results from the IFCT Biomarkers France Study

Samuel Kembou Nzale, William B. Weeks, L’Houcine Ouafik, Isabelle Rouquette, Michèle Beau-Faller, Antoinette Lemoine, Pierre-Paul Bringuier, Anne-Gaëlle Le Coroller Soriano, Fabrice Barlesi, Bruno Ventelou

published 01 Jul 2020

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The difference in knowledge and concerns between healthcare professionals and patients about genetic-related issues: A questionnaire-based study

Basima A. Almomani, Nour A. Al-Sawalha, Maha S. Al-Keilani, Hatem A. Aman

published 19 Jun 2020

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Clinical heterogeneity of Pulmonary Arterial Hypertension associated with variants in TBX4

Ignacio Hernandez-Gonzalez, Jair Tenorio, Julian Palomino-Doza, Amaya Martinez Meñaca, Rafael Morales Ruiz, Mauro Lago-Docampo, María Valverde Gomez, Javier Gomez Roman, Ana Belén Enguita Valls, Carmen Perez-Olivares, Diana Valverde, Joan Gil Carbonell, Elvira Garrido-Lestache Rodríguez-Monte, Maria Jesus del Cerro, Pablo Lapunzina, Pilar Escribano-Subias

published 29 Apr 2020

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Genomics knowledge and attitudes among European public health professionals: Results of a cross-sectional survey

Annalisa Rosso, Erica Pitini, Elvira D’Andrea, Marco Di Marco, Brigid Unim, Valentina Baccolini, Corrado De Vito, Carolina Marzuillo, Floris Barnhoorn, Dineke Zeegers Paget, Paolo Villari

published 02 Apr 2020

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