Kirsten Allan
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View article: De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome Open
View article: <i>De novo</i>variants in the non-coding spliceosomal snRNA gene<i>RNU4-2</i>are a frequent cause of syndromic neurodevelopmental disorders
<i>De novo</i>variants in the non-coding spliceosomal snRNA gene<i>RNU4-2</i>are a frequent cause of syndromic neurodevelopmental disorders Open
Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily of protein-coding genes 1 . Increasingly, large genome-sequenced cohorts are improving our ability to disco…
View article: Breast cancer specialists’ experiences and attitudes towards mainstream genetic testing for patients with breast cancer
Breast cancer specialists’ experiences and attitudes towards mainstream genetic testing for patients with breast cancer Open
Germline genetic testing is an increasingly important component of treatment decision-making for clinicians and patients with breast cancer. To address increased demand and expedite access to genetic testing for these patients, the Parkvil…
View article: PTP61F Mediates Cell Competition and Mitigates Tumorigenesis
PTP61F Mediates Cell Competition and Mitigates Tumorigenesis Open
Tissue homeostasis via the elimination of aberrant cells is fundamental for organism survival. Cell competition is a key homeostatic mechanism, contributing to the recognition and elimination of aberrant cells, preventing their malignant p…
View article: Differential regulation of protein tyrosine kinase signalling by Dock and the <scp>PTP</scp>61F variants
Differential regulation of protein tyrosine kinase signalling by Dock and the <span>PTP</span>61F variants Open
Tyrosine phosphorylation‐dependent signalling is coordinated by the opposing actions of protein tyrosine kinases ( PTK s) and protein tyrosine phosphatases ( PTP s). There is a growing list of adaptor proteins that interact with PTP s and …