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Human genetics

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, Karen V. MacDonald, Julien Marcadier, Renee Perrier, Lindsay Tuer, Brenda McInnes, Francois Bernier, Deborah A. Marshall

published 29 Dec 2025

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Diagnostic yield of exome sequencing in nonobstructive azoospermia (NOA): A systematic review and meta-analysis

Fan Zhou, Yaqian Li, Jiani Zhang, Xiaodong Wang

published 16 Dec 2025

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Coping with rejection as a sperm donor: A qualitative study of the personal impact of rejection and new health information

Lina Thirup, Anne-Bine Skytte, Ulrik Schiøler Kesmodel, Ida Vogel, Guido Pennings, Allan Pacey, Stina Lou

published 12 Dec 2025

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Gender difference in self-reported empathy: Effects of task instructions and exposure to gender essentialism primes

Namitha Rajasekhar, Anna Redly, Shevantika Nanda, Gillian R. Brown

published 12 Dec 2025

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Exploring the genetic frontier: Unraveling ANRIL, PAI-1, and HNF1α in stroke progression

Abdullah Hamadi, Rashid Mir, Osama M. Al-Amer, Mohammed Alasseiri, Gasim Dobie, Imadeldin Elfaki, Waseem AlZamzami, Sael Alatawi, Atif Abdulwahab A. Oyouni, Mohammad A. Alanazi, Saravanan Muthupandian

published 11 Dec 2025

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Utilization of genomic services among physicians in Kenya

Hillary Sigilai, Elijah Ogola, Syokau Ilovi

published 10 Dec 2025

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Association between Anti-Helicobacter pylori IgG seropositivity on coronary heart disease and potential pathogenesis: a Mendelian randomization study

Jing Wang, Tianying Chang, Yiqiang Wang, Jinling Zhang, Rui Chen, Le Liu, Yingzi Cui, Hongguang Jin

published 09 Dec 2025

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A protocol for using human genetic data to identify circulating protein level changes that are the causal consequence of cancer processes

Lisa M. Hobson, Richard M. Martin, Karl Smith-Byrne, George Davey Smith, Gibran Hemani, Joseph H. Gilbody, James Yarmolinsky, Sarah E.R. Bailey, Lucy J. Goudswaard, Philip C. Haycock

published 05 Dec 2025

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Targeted fetal NGS panel reveals genetic conditions in sonographically normal fetuses: Insights from a large cohort study

Han-Ying Chen, Yi-Ting Wang, Jessica Kang, Yi-Yun Tai, Ti-Jia Yuan, Shin-Yu Lin, Shi-Ming Lin, Chien-Nan Lee, Tsang-Ming Ko

published 02 Dec 2025

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Multi-omics analysis indicates an association between TAPBP and prostate cancer

Xinlong Wang, Aimin Jiang, Chao Li, Zhiyong Liu

published 21 Nov 2025

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A multilayered genetic structure analysis between inflammatory bowel disease and bone density/osteoporosis

Mengting Qin, Xinhong Liu, Qinghua Luo, Ruyun Cai

published 20 Nov 2025

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Identification of pathogenic variants for the development of ultra-long axial length in myopic children

YanYing Zhu, XueYan Li, YueXin Chen, HaiYan Xie, YuKun Liu, XiaoChen Xu, Jing Wang

published 19 Nov 2025

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Genome- and transcriptome-wide association meta-analysis reveals new insights into genes affecting coronary and peripheral artery disease

Michael Rode, Maciej Rosolowski, Katrin Horn, Sylvia Henger, Andrej Teren, Kerstin Wirkner, Joachim Thiery, Markus Loeffler, Janne Pott, Holger Kirsten, Markus Scholz

published 18 Nov 2025

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