Contact information
Research groups
Stephan Sanders
Professor of Neurogenetics
Key publications
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Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease.
Martin-Geary AC. et al, (2023), medRxiv
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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
Recent publications
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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
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Targeted BDNF upregulation via upstream open reading frame disruption
Feng N. et al, (2025)
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Contribution of autosomal rare and de novo variants to sex differences in autism
Koko M. et al, (2025), American Journal of Human Genetics, 112, 599 - 614
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LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorder.
Chettle J. et al, (2024), HGG Adv, 5