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Human genetics

Multivariate genetic architecture of age-related eye disease

Luqi Gao, Qihao Wang, Chao Zhu

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

Jasmijn E. Klapwijk, Vyne Van der Schoot, [ ... ], Sam R. Riedijk

Collection of autologous CD34+ hematopoietic progenitor cells (HPC) in multiple myeloma: CD34 + cell collection yield in relation to molecular subtype, karyotype, and FISH results

Anwar Rjoop, Ivette Perez, [ ... ], Gina Drobena

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

Worrawit Wanitsuwan, Kanet Kanjanapradit, [ ... ], Sukanya Horpaopan

Using deep learning to identify inherited retinal diseases based on wide-field retinal imaging data

Leo Joskowicz, Tim Buchbinder, [ ... ], Jaime Levy

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

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