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Human genetics

Targeted analysis of KRAS and CREBBP mutations uncovers a potential population-specific signature in thai patients with liver fluke-associated cholangiocarcinoma

Rehab Osman Taha, Wanna Chaijaroenkul, Papichaya Phompradit, Kesara Na-Bangchang

Genetic variants and polygenic risk scores associated with paroxysmal atrial fibrillation in the Japanese population

Megumi Shiomi, Yuki Nagata, [ ... ], Toshihiro Tanaka

Single-cell transcriptomics of bronchoalveolar lavage reveals divergent macrophage subpopulations and trajectories in interstitial lung disease

Lai-Ying Zhang, Peter C. Allen, [ ... ], Brendan J. O’Sullivan

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

Yasuyuki Takai, Akiko Yamagami, [ ... ], Masato Wakakura

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

Åsa Schawlann Ølnes, Marianne Teigen, [ ... ], Katrine Bjune

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

Taegun Kim, Jaeseung Song, Jong Wha J. Joo

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

Fahamida Akter, Partha S. Biswas, [ ... ], John Damien Platten

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

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

Soo-Hyun Kim, Yunjung Choi, [ ... ], Young-Chul Choi

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

Sare Golpasand, Navid Ghavi Hossein-Zadeh, Shahrokh Ghovvati

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

Simone Hansen, Cathrine Vedel, [ ... ], Ditte S. Jørgensen

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

Maria Grazia De Iorio, Michele Polli, [ ... ], Giulietta Minozzi

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

Rupam Basu, Sabyasachi Mukhopadhyay, Kaustubh Adhikari

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