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European Journal of Human Genetics : EJHG|June 12, 2014
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndromeMateusz Kolanczyk, Peter Krawitz, Jochen Hecht, et al.Clinical Cardiology|August 13, 2014
Total serum transforming growth factor-β1 is elevated in the entire spectrum of genetic aortic syndromesMathias Hillebrand, Nathalie Millot, Sara Sheikhzadeh, et al.BMJ Health & Care Informatics|May 8, 2021
User testing of a diagnostic decision support system with machine-assisted chart review to facilitate clinical genomic diagnosisAlanna Kulchak Rahm, Nephi A Walton, Lynn K Feldman, et al.American Journal of Medical Genetics. Part A|September 19, 2025
An ITPR1 Variant in the IP3-ITPR1 Binding Pocket Associated With a Clinical Phenotype of Athetoid Cerebral PalsyThania Ordaz, Jagadish Chandrabose Sundaramurthi, Adam S Arterbery, et al.Neuroimage. Clinical|June 25, 2023
The association of prediabetes and type 2 diabetes with hippocampal subfields volume: The Maastricht studyJennifer Monereo-Sánchez, Jacobus F A Jansen, Sebastian Köhler, et al.Journal of the American Geriatrics Society|October 27, 2016
The Patient Health Questionnaire-9 as a Screening Tool for Depression in Individuals with Type 2 Diabetes Mellitus: The Maastricht StudyEveline P C J Janssen, Sebastian Köhler, Coen D A Stehouwer, et al.Brain, Behavior, and Immunity|May 6, 2023
Correlations between kynurenines in plasma and CSF, and their relation to markers of Alzheimer's disease pathologyLieke Bakker, Sebastian Köhler, Simone J P M Eussen, et al.The American Journal of Cardiology|January 8, 2011
Predictors of outcome of mitral valve prolapse in patients with the Marfan syndromeMeike Rybczynski, Hendrik Treede, Sara Sheikhzadeh, et al.Nature Communications|December 5, 2019
Estimating heritability and genetic correlations from large health datasets in the absence of genetic dataGengjie Jia, Yu Li, Hanxin Zhang, et al.Genomics|January 25, 2022
Betacoronavirus-specific alternate splicingGuy Karlebach, Bruce Aronow, Stephen B Baylin, et al.Pageof 58