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Human genetics

Ten-year natural history of visual function in Japanese patients with Leber hereditary optic neuropathy: A retrospective cohort study

Yasuyuki Takai, Akiko Yamagami, Mayumi Iwasa, Kenji Inoue, Ryoma Yasumoto, Hitoshi Ishikawa, Masato Wakakura

published 28 Apr 2026

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

Åsa Schawlann Ølnes, Marianne Teigen, Thea Bismo Strøm, Erik Kristoffer Arnesen, Antoine Rimbert, Anne Elise Eggen, Katrine Bjune

published 20 Apr 2026

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Risk prediction for cardiovascular related diseases using PRS and EHR in the Framingham Heart Study

Taegun Kim, Jaeseung Song, Jong Wha J. Joo

published 17 Apr 2026

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Stage-specific screening reveals differential resilience response to cold stress in rice

Fahamida Akter, Partha S. Biswas, Abul Kalam Mohammad Aminul Islam, Mohammad Sharif Raihan, Md. Mizanur Rahman, Khandakar Md. Iftekharuddaula, Mohammad Rafiqul Islam, John Damien Platten

published 15 Apr 2026

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Genetic, clinical, and biochemical profiling of Gilbert syndrome in a Nepali cohort: High prevalence of the UGT1A1 c.-3279T>G polymorphism and correlation with hematological parameters

Pragya Gautam Ghimire, Prasanna Ghimire, Rajan Pande

published 13 Apr 2026

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Consistent MRI pattern in ADSS1 myopathy with variable clinical presentations: A Korean cohort study

Soo-Hyun Kim, Yunjung Choi, Hyung Jun Park, Ji-Man Hong, Young-Chul Choi

published 13 Apr 2026

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Genomic dissection of methane emission traits in cattle: A meta-GWAS and heritability analysis across populations

Sare Golpasand, Navid Ghavi Hossein-Zadeh, Shahrokh Ghovvati

published 10 Apr 2026

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Neurodevelopmental outcomes in preschool children with congenital heart defects: A case-control study using Ages & Stages Questionnaire

Simone Hansen, Cathrine Vedel, Jesper Steensberg, Gorm Greisen, Line Rode, Charlotte Kvist Ekelund, Niels Vejlstrup, Karin Sundberg, Olav Bjørn Petersen, Ditte S. Jørgensen

published 25 Mar 2026

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

Maria Grazia De Iorio, Michele Polli, Sara Ghilardi, Stefano Frattini, Mara Bagardi, Alessandra Paganelli, Maria Cristina Cozzi, Kenza Seghrouchni, Paola Giuseppina Brambilla, Giulietta Minozzi

published 24 Mar 2026

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Bayesian variable selection for genome-wide association study of grain traits in rice

Rupam Basu, Sabyasachi Mukhopadhyay, Kaustubh Adhikari

published 17 Mar 2026

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A new perspective on population genetics: Deciphering the relationship between genetic variants and disease prevalence in Psoriasis

Yuanjing Zhang, Weiran Li, Wanrong Wang, Kejia Wu, Feiran Zhou, Xiaodong Zheng

published 13 Mar 2026

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Psoriasis risk allele function in activated Th1/17 cells with “memory” to antigen exposure

Bayazit Yunusbayev, Sergei Ryakhovsky, Radick Altinbaev, Anastasia Kislova, Kseniya Danilko, Liudmila Kraeva, Milyausha Yunusbaeva

published 11 Mar 2026

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Habitual coffee consumption poorly correlates with sleep quality and daytime sleepiness: A cross-sectional study

Simon Söderholm, Martin Ulander, Vanessa William Toma, Sara Kaufmann, Xiangyu Qiao, Daniel Berglind, Susanna Calling, Bledar Daka, Ludger Grote, Mats Martinell, Frida Bergman, Pontus Henriksson, Carl-Johan Östgren, Wen Zhong, Claudio Cantù, Fredrik Iredahl

published 09 Mar 2026

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