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Genomic medicine

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

Rano B. Alieva, Aleksandr B. Shek, Anastasiya V. Bahachova, Khurshid G. Fozilov, Guzal J. Abdullaeva, Alisher A. Abdullaev, Lilya E. Kan, Shavkat U. Khoshimov, Andrey R. Kim, Ulugbek I. Nizamov, Dilnora B. Yusupalieva

published 09 Jul 2026

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

Tone Hovda, Siim Sober, Peeter Padrik, Krista Kruuv-Kao, Eli Marie Grindedal, Tone Bøe Aaman Vamre, Eline Eikeland, Solveig Hofvind, Kristine Kleivi Sahlberg

published 08 Jul 2026

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

Cecilia Camacho-Hubner, Marcia Waddington-Cruz, María Juliana Rodríguez-González, Marcus Vinicius Simões, Juan David López-Ponce de León, Fabio Fernandes, Erika María Martínez-Carreño, Juan Pablo Costabel, Enrique A. Berrios-Bárcenas, Fabio Barroso, José Angel Cigarroa López, Rosa Ortega Reyes, Jaime Alvarez, Diego Pérez de Arenaza, Diana Buitrago, Constanza Otero, Claudenice Leite Bertoli de Souza, Juan Sebastián Molina Gómez, Guilherme Silva Julian

published 26 Jun 2026

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Benchmark of biomarker identification and prognostic modeling methods on diverse censored data

Wesley Fletcher, Samiran Sinha

published 16 Jun 2026

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A fusion-deletion genomic-event underlies poor prognosis in young patients with luminal breast cancer

Le-Wei Zheng, Yi-Ming Liu, Ke-Da Yu, Cui-Cui Liu

published 16 Jun 2026

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Cost-effectiveness of pre-emptive pharmacogenetic testing: An umbrella review

Taichi Ochi, Manon G. den Uil, Greta Piazza, Geert W. J. Frederix, Eelko Hak, Vera H. M. Deneer, Talitha L. Feenstra

published 16 Jun 2026

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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, Margot Lemaitre, Dominique Salvi, Isabelle Marchetti-Waternaux, Elisabeth Cudry, Emmanuel Simon, Nicolas Bourgon, Alexandra Benachi, Nhut-Thanh Van, Camille Coppola, Christine Binquet, Christel Thauvin-Robinet, Frédéric Huet, Christine Peyron

published 15 Jun 2026

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Cardiologists’ perspectives on pharmacogenomics implementation in a hybrid health system: A qualitative study from the United Arab Emirates

Maram O. Abbas, Azhar T. Rahma, Iffat Elbarazi, Bassam R. Ali, George P. Patrinos, Hana Ghadibah, Amna Al Muaini, Fatma Al-Maskari

published 12 Jun 2026

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Tumor hypoxia is associated with global copy-number alteration burden and subtype-dependent overall survival in breast cancer: Evidence from TCGA and METABRIC

Wenhan Yang

published 02 Jun 2026

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Pharmacogenomics knowledge and implementation readiness among community pharmacists in Jordan: A national cross-sectional study

Khalid Awad Al-Kubaisi, Derar H. Abdel-Qader, Nadia Al Mazrouei, Rana Ibrahim, Ahmed Alhusban

published 19 May 2026

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Factors that influence care for second and third trimester termination of pregnancy for medical reasons in Canada: A qualitative investigation

Madeleine Ennis, Elise Lavoie-Lebel, Regina Renner, Sarah Munro, Carmelina Barone, Elana Ilott, Jennifer Chisholm, Brigid Dineley, Liv Knutzen, Julie Robertson, Jessica Liauw

published 15 May 2026

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

Jasmijn E. Klapwijk, Vyne Van der Schoot, Marike G. Polak, Stina Lou, Ida Vogel, Iris M. Jansen-Bakkeren, Karin E. M. Diderich, Katinka Dijkstra, Sam R. Riedijk

published 14 May 2026

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

Worrawit Wanitsuwan, Kanet Kanjanapradit, Supakool Jearanai, Yuthasak Suphasynth, Pongsatorn Supaattagorn, Sukanya Vijasika, Surasak Wanram, Chumpol Ngamphiw, Vorthunju Nakhonsri, Sissades Tongsima, Palakorn Satsue, Natnaree Sangkeaw, Sukanya Horpaopan

published 11 May 2026

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