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Human genetics

The socioeconomic impact of inherited retinal dystrophies (IRDs) in Belgium: A cost-of-illness study

Ine Vandersmissen, Janice Geers, Tom Denee, Salla Oinasmaa, Dagmar Hoeben, Xinyi Zhang, Burcak Aydin, Simone Cheung, Lorenzo Billiet, Inge Joniau, Avril Daly, Steven Simoens, Bart P. Leroy

published 27 Jan 2026

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Integrative multi-omics analyses identify key genes and elucidate bidirectional regulatory mechanisms in thyroid dysfunction

Yilang Hu, Hong Hu, Lijun Xu, Xuzheng Tang, Chongyu Wang, Zhengyi Lian, Chenyu Xie, Zhiwan Xie, Qingqing Wang

published 22 Jan 2026

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Genetic and clinical determinants of neonatal jaundice and growth patterns in the Qingdao birth cohort: A genome-wide association study

Xu Chen, Peina Du, Shuo Li, Xiaohong Wang, Mengyang Xu, Zhaobin Chu, Yue Zhang, Zhengyang Yao, Xuejie Huan, Yushan Huang, Mingyan Fang, Ya Gao, Guangyi Fan, Xin Jin, Hui Huang, Silin Pan

published 16 Jan 2026

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GermVersity: A free and user-friendly interface to enhance the visualization and analysis of genebank data

Joaquin Guillermo Ramirez-Gil, Felipe López-Hernández, Diego Felipe Conejo-Rodriguez, Juan Camilo Henao-Rojas, Kevin Estiven Quiroga-Benavides, Andrés J. Cortés, Maria Isabel Chacón-Sánchez

published 12 Jan 2026

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Genetic mapping and candidate gene identification for key physiological traits associated with heat tolerance in wheat (Triticum aestivum L.) using a MAGIC population

Ananta Bag, Hari Krishna, Vinodh Kumar P.N, Shiwani Meena, Narayana Bhat Devate, Sudhir Kumar, Ravindra Patil, Uday Govinda Reddy, Amit Kumar Singh, Badal Singh, Neelu Jain, Pradeep Kumar Singh, Gyanendra Pratap Singh

published 02 Jan 2026

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Phenome-wide screening of the putative causal determinants of bipolar affective disorder using genetic data

Bin Hu, Qi Zhou, Hao Wu, Dejiang Yang, Chongyu Xiong, Xiaowei Zhang

published 02 Jan 2026

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Polygenic associations with clinical and neuropathological trait heterogeneity across TDP-43 proteinopathies

Barbara E. Spencer, David J. Irwin, Vivianna M. Van Deerlin, EunRan Suh, Edward B. Lee, Lauren Elman, Colin C. Quinn, Defne Amado, Michael Baer, Murray Grossman, David A. Wolk, Corey T. McMillan

published 30 Dec 2025

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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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