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Journal of Biomedical Informatics|March 30, 2022
PhenoRerank: A re-ranking model for phenotypic concept recognition pre-trained on human phenotype ontologyShankai Yan, Ling Luo, Po-Ting Lai, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 17, 2024
Lethal phenotypes in Mendelian disordersPilar Cacheiro, Samantha Lawson, Ignatia B Van den Veyver, et al.
Alzheimer'S Research & Therapy|July 2, 2018
Modifiable dementia risk score to study heterogeneity in treatment effect of a dementia prevention trial: a post hoc analysis in the preDIVA trial using the LIBRA indexTessa van Middelaar, Marieke P Hoevenaar-Blom, Willem A van Gool, et al.
BMC Public Health|December 13, 2025
Evaluation of a public awareness campaign for dementia risk reduction in the Netherlands: a mixed methods studyDominique Paauw, Irene Heger, Dorothee Horstkötter, et al.
Alzheimer'S & Dementia (Amsterdam, Netherlands)|July 30, 2025
Loneliness trajectories and dementia risk: Insights from the HUNT cohort studyRagnhild Holmberg Aunsmo, Bjørn Heine Strand, Sverre Bergh, et al.
The Journal of Prevention of Alzheimer'S Disease|January 12, 2025
Maintaining level of modifiable dementia risk scores is associated with better cognitive outcomes than increasing risk scores: A population-based prospective cohort studyStephanie Van Asbroeck, Md Hamidul Huque, Scherazad Kootar, et al.
Human Molecular Genetics|August 31, 2004
A molecular pathogenesis for transcription factor associated poly-alanine tract expansionsAndrea N Albrecht, Uwe Kornak, Annett Böddrich, et al.
Journal of Cellular and Molecular Medicine|January 25, 2019
An integrative systems approach identifies novel candidates in Marfan syndrome-related pathophysiologyRaghu Bhushan, Lukas Altinbas, Marten Jäger, et al.
American Journal of Human Genetics|April 9, 2013
PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndromePeter M Krawitz, Yoshiko Murakami, Angelika Rieß, et al.
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