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Journal of Alzheimer'S Disease : JAD|August 6, 2019
Causative Mutations and Genetic Risk Factors in Sporadic Early Onset Alzheimer's Disease Before 51 YearsMorgane Lacour, Olivier Quenez, Anne Rovelet-Lecrux, et al.The Journal of Clinical Investigation|September 18, 2025
Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse developmentXiaoxia Peng, Xiangbin Jia, Hanying Wang, et al.Nature Genetics|August 6, 2013
Mutations in the gene encoding PDGF-B cause brain calcifications in humans and miceAnnika Keller, Ana Westenberger, Maria J Sobrido, et al.Medrxiv : the Preprint Server for Health Sciences|December 3, 2025
Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtypeIlaria Parenti, Alina Hesters, Marta Gil-Salvador, et al.Nature Communications|March 30, 2026
Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtypeIlaria Parenti, Alina Hesters, Marta Gil-Salvador, et al.Neurology|January 2, 2024
Molecular and Phenotypic Characterization of the RORB-Related DisorderZeynep Gokce-Samar, Annalisa Vetro, Julitta De Bellescize, et al.Science (New York, N.Y.)|October 31, 2024
Brain malformations and seizures by impaired chaperonin function of TRiCFlorian Kraft, Piere Rodriguez-Aliaga, Weimin Yuan, et al.JAMA Network Open|May 17, 2023
Genetic Associations Between Modifiable Risk Factors and Alzheimer Disease, Jiao Luo, Jesper Qvist Thomassen, et al.JAMA Neurology|May 31, 2022
Association of Rare APOE Missense Variants V236E and R251G With Risk of Alzheimer DiseaseYann Le Guen, Michael E Belloy, Benjamin Grenier-Boley, et al.Medrxiv : the Preprint Server for Health Sciences|August 6, 2025
Polygenic Hazard Score for Predicting Age-associated Risk of Alzheimer's Disease in European Populations: Development and ValidationBayram Cevdet Akdeniz, Shahram Bahrami, Espen Hagen, et al.Pageof 5