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  1. 361
  2. 362

    Feasibility of Collecting and Linking Digital Phenotyping, Clinical, and Genetics Data for Mental Health Research: Pilot Observational Study by Joanne R Beames, Omar Dabash, Michael J Spoelma, Artur Shvetcov, Wu Yi Zheng, Aimy Slade, Jin Han, Leonard Hoon, Joost Funke Kupper, Richard Parker, Brittany Mitchell, Nicholas G Martin, Jill M Newby, Alexis E Whitton, Helen Christensen

    Published 2025-06-01
    “… Abstract BackgroundDigital phenotyping—the use of digital data to measure and understand behavior and internal states—shows promise for advancing predictive analytics in mental health, particularly when combined with other data sources. …”
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    Article
  3. 363

    ZFinfer: A novel chemical-phenotype inference system for zebrafish for filling data gaps in environmental pollutant research by Hung-Lin Kan, Shan-Shan Wang, Chun-Wei Tung

    Published 2025-09-01
    “…In silico models can facilitate prioritizing chemicals prior to further experimental evaluations and providing potential underlying mechanisms. Chemical-phenotype inference system for zebrafish (ZFinfer), an enrichment analysis tool that can predict affected endpoints, was developed by integrating chemical-protein interaction data from the Search Tool for Interacting Chemicals (STITCH) database and gene-phenotype annotation data from the Zebrafish Information Network (ZFIN). …”
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  4. 364

    Trade-offs in relative limb length among Peruvian children: extending the thrifty phenotype hypothesis to limb proportions. by Emma Pomeroy, Jay T Stock, Sanja Stanojevic, J Jaime Miranda, Tim J Cole, Jonathan C K Wells

    Published 2012-01-01
    “…Temperature adaptation predicts a gradient of decreased size along the limbs reflecting decreasing tissue temperature/blood flow. …”
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  5. 365
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    Long-read sequencing of 945 Han individuals identifies structural variants associated with phenotypic diversity and disease susceptibility by Jiao Gong, Huiru Sun, Kaiyuan Wang, Yanhui Zhao, Yechao Huang, Qinsheng Chen, Hui Qiao, Yang Gao, Jialin Zhao, Yunchao Ling, Ruifang Cao, Jingze Tan, Qi Wang, Yanyun Ma, Jing Li, Jingchun Luo, Sijia Wang, Jiucun Wang, Guoqing Zhang, Shuhua Xu, Feng Qian, Fang Zhou, Huiru Tang, Dali Li, Chinese Pangenome Consortium (CPC), Fritz J. Sedlazeck, Li Jin, Yuting Guan, Shaohua Fan

    Published 2025-02-01
    “…Here, through long-read sequencing of 945 Han Chinese genomes, we identify 111,288 SVs, including 24.56% unreported variants, many with predicted functional importance. By integrating human population-level phenotypic and multi-omics data as well as two humanized mouse models, we demonstrate the causal roles of two SVs: one SV that emerges at the common ancestor of modern humans, Neanderthals, and Denisovans in GSDMD for bone mineral density and one modern-human-specific SV in WWP2 impacting height, weight, fat, craniofacial phenotypes and immunity. …”
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  7. 367

    Antibiotic resistance genotype, phenotype, and clinical outcomes in patients with Gram-negative infections at Rabin Medical Center in Israel by Rachelle E. Koch, Jackson Barth, Andrew E. Clark, Dhara Desai, Jiwoong Kim, Christine A. Pybus, Xiaowei Zhan, Leonard Leibovici, Dafna Yahav, David E. Greenberg

    Published 2025-01-01
    “…However, a better understanding of the relationship between bacterial genetic markers, phenotypic resistance, and clinical outcomes is needed. …”
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    Systematic analysis of genetic and phenotypic characteristics reveals antisense oligonucleotide therapy potential for one-third of neurodevelopmental disorders by Kim N. Wijnant, Nael Nadif Kasri, Lisenka E.L.M. Vissers

    Published 2025-05-01
    “…This involved examining the presence of a combination of critical factors including disease-gene properties, such as regulatory elements, effects of pathogenic variants, and disease-associated phenotypic features. Results Through the systematic evaluation of the presence of targetable characteristic for each NDD and AON strategy, we identified 711 NDDs (38% of the total) with characteristics favorable for at least one AON strategy and predicted that 18% of affected individuals could benefit from AON therapy. …”
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  10. 370

    Long-term outcomes and clinical phenotypes associated with best response to low dose alemtuzumab in cutaneous T-cell lymphoma by Cecilia Larocca, Ai-Tram N. Bui, John T. O’Malley, Anita Giobbie-Hurder, Marianne Tawa, Jessica E. Teague, Rachael A. Clark, Corey Cutler, Eric Jacobsen, David C. Fisher, Thomas S. Kupper, Nicole R. LeBoeuf

    Published 2025-04-01
    “…As a surrogate for a central memory T-cell (TCM) clinical phenotype, we evaluated whether the absence of a history of papules, plaques, and tumors (PPT) predicts better global and skin response. …”
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  11. 371

    Case Report: Phenotypic and genetic characterization of a presumptive sporadic hypothalamic hamartoma in a standard Schnauzer dog by Theofanis Liatis, Elizabeth Attree, Laura Ruiz De Alejos Blanco, Patrick Santens, Alberta De Stefani, Androniki Psifidi

    Published 2025-05-01
    “…The aim of this study was to phenotypically and genetically characterize presumptive sporadic HH in a dog.Case presentationA 7-month-old male Schnauzer was presented with chronic left head tilt, episodes of imbalance, circling to the left, and continuous repetitive movements of the head and neck to the left. …”
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  12. 372

    Precision Feeding of Feedlot Calves Based on Phenotypic Production Profiles II. The Economic Value in a Feedlot Model by Andreas H. R. Hentzen, Dietmar E. Holm

    Published 2025-06-01
    “…Incoming feeder calf production potential can be predicted based on phenotypic appearance, and nutrient supply can be optimized to match each animal’s specific production profile. …”
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    Intragenomic conflict associated with extreme phenotypic plasticity in queen-worker caste determination in honey bees (Apis mellifera) by Sean T. Bresnahan, Shaun Mahony, Kate Anton, Brock Harpur, Christina M. Grozinger

    Published 2025-06-01
    “…In honey bees, the Kinship Theory of Intragenomic Conflict predicts selection on patrigenes to favor traits enhancing individual fitness, such as accelerated growth or increased body size—traits more active in queen-destined larvae. …”
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    A Novel Mutation of VPS33B Gene Associated with Incomplete Arthrogryposis-Renal Dysfunction-Cholestasis Phenotype by Eleni Agakidou, Charalampos Agakidis, Marios Kambouris, Nicoleta Printza, Maria Farini, Elina Vourda, Spyridon Gerou, Kosmas Sarafidis

    Published 2020-01-01
    “…Her parents were heterozygous for the same VPS33B mutation. The prognosis was predictably poor in the context of the intractable polyuria necessitating long-term parenteral fluid administration via indwelling central catheter leading to catheter-related sepsis, to which she eventually succumbed at the age of 7 months. …”
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  17. 377

    Relationship of Clinical Picture, Phenotype of Oxidative Metabolism, Accentuation of Temperament Properties and Compliance in Patients with Gastroesophageal Reflux Disease by A. A. Kalugin, A. A. Stepchenko, M. A. Stepchenko

    Published 2022-12-01
    “…By oxidative metabolism phenotype, 156 patients were divided into rapid (n = 51; 33 %), intermediate (n = 82; 52 %) and slow metabolizers (n = 23; 15 %). …”
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    Signs of apoptosis in circulating tumor cell subpopulations with phenotypes associated with stemness and epithelial-mesenchymal transition in breast carcinoma by V. M. Perelmuter, E. S. Grigorieva, M. V. Zavyalova, L. A. Tashireva, V. V. Alifanov, O. E. Saveleva, S. V. Vtorushin, E. L. Choynzonov, N. V. Cherdyntsevа

    Published 2022-12-01
    “…Ability of circulating tumor cells (CTC) initiate metastases in distant sites is associated primarily with their resistance to apoptosis which allows them to retain viability in the blood. Knowledge of phenotypical signs associated with this ability would allow to predict the risk of metastases and optimize adjuvant therapy.Aim. …”
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  20. 380

    Clinical phenotype of ARDS based on K-means cluster analysis: A study from the eICU database by Wei Zhang, Linlin Wu, Shucheng Zhang

    Published 2024-10-01
    “…Purpose: To explore the characteristics of the clinical phenotype of ARDS based on Machine Learning. Methods: This is a study on Machine Learning. …”
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