Associated Papers
Whole-exome sequencing identifies new pathogenic germline variants in patients with colorectal polyposis.
Dos Santos W et al.
World Journal of Gastroenterology, 2025
Beyond genomics: using RNA-seq from dried blood spots to unlock the clinical relevance of splicing variation in a diagnostic setting.
Bertoli-Avella AM et al.
European Journal of Human Genetics : Ejhg, 2025
Dysregulation of mTOR signalling is a converging mechanism in lissencephaly.
Zhang C et al.
Nature, 2025
Analysis of high-risk pedigrees identifies 11 candidate variants for Alzheimer's disease.
Teerlink CC et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2022
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